Mutagenetix > Incidental Mutations

Incidental Mutation 'R2508:Neb'

251439

Institutional Source

Beutler Lab

Gene Symbol

Neb

Ensembl Gene

ENSMUSG00000026950

Gene Name

nebulin

Synonyms

MMRRC Submission

040414-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52136647-52378474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52195521 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1521 (I1521V)

Ref Sequence

ENSEMBL: ENSMUSP00000028320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028320] [ENSMUST00000036934] [ENSMUST00000075301] [ENSMUST00000148356]

Predicted Effect

probably benign
Transcript: ENSMUST00000028320
AA Change: I1521V

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028320
Gene: ENSMUSG00000026950
AA Change: I1521V

Domain	Start	End	E-Value	Type
low complexity region	8	26	N/A	INTRINSIC
low complexity region	27	36	N/A	INTRINSIC
NEBU	103	134	9.67e-1	SMART
NEBU	137	167	6.6e-7	SMART
NEBU	172	202	9.7e-5	SMART
NEBU	208	238	3.48e-6	SMART
NEBU	246	276	2.66e-2	SMART
NEBU	281	311	5.32e-2	SMART
NEBU	312	342	2.94e-4	SMART
NEBU	346	377	1.34e1	SMART
NEBU	380	410	2.06e-8	SMART
NEBU	415	445	1.67e-8	SMART
NEBU	450	480	8.57e-6	SMART
NEBU	487	518	8.47e0	SMART
NEBU	523	553	5.2e-5	SMART
NEBU	554	584	1.07e-6	SMART
NEBU	589	619	9.55e-4	SMART
NEBU	622	652	6.21e-3	SMART
NEBU	657	686	4.89e-1	SMART
NEBU	692	722	4.7e-3	SMART
NEBU	730	760	1.16e-2	SMART
NEBU	765	795	5.32e-2	SMART
NEBU	796	826	3.62e-4	SMART
NEBU	831	861	1.88e-2	SMART
NEBU	866	896	1.59e-9	SMART
NEBU	901	931	2.7e-3	SMART
NEBU	937	967	4.93e0	SMART
NEBU	975	1005	2.89e1	SMART
NEBU	1010	1040	1.94e-4	SMART
NEBU	1041	1071	3.2e-5	SMART
NEBU	1076	1106	3.71e-1	SMART
NEBU	1111	1141	1.52e-6	SMART
NEBU	1146	1176	4.56e-1	SMART
NEBU	1182	1212	2.39e-4	SMART
NEBU	1220	1250	1.59e1	SMART
NEBU	1255	1285	4.32e-2	SMART
NEBU	1286	1316	4.39e0	SMART
NEBU	1321	1351	5.04e-3	SMART
NEBU	1356	1386	8.78e-3	SMART
NEBU	1392	1422	6.02e-1	SMART
NEBU	1427	1457	5.24e-1	SMART
NEBU	1463	1493	1.53e-2	SMART
NEBU	1498	1528	1.94e-4	SMART
NEBU	1533	1563	1.16e-2	SMART
NEBU	1568	1598	2.51e1	SMART
NEBU	1603	1633	2.81e-1	SMART
NEBU	1638	1668	7.64e-3	SMART
NEBU	1673	1703	5.62e-1	SMART
NEBU	1708	1738	1.49e-5	SMART
NEBU	1743	1773	3.97e-1	SMART
NEBU	1778	1808	1.47e-4	SMART
NEBU	1813	1843	6.45e-1	SMART
NEBU	1848	1878	1.28e-4	SMART
NEBU	1883	1913	9.33e-7	SMART
NEBU	1918	1948	7.58e-7	SMART
NEBU	1954	1984	1.94e-4	SMART
NEBU	1989	2019	9.93e-2	SMART
NEBU	2024	2054	2.45e-1	SMART
NEBU	2059	2089	8.39e-1	SMART
NEBU	2094	2124	1e-6	SMART
NEBU	2131	2161	7.35e-5	SMART
NEBU	2168	2198	1.37e-4	SMART
NEBU	2202	2232	2.83e-6	SMART
NEBU	2237	2267	1.52e-6	SMART
NEBU	2274	2304	5.21e0	SMART
NEBU	2309	2339	7.53e-2	SMART
NEBU	2344	2374	2.5e-7	SMART
NEBU	2377	2409	1.16e-2	SMART
NEBU	2416	2446	1.47e-4	SMART
NEBU	2453	2483	3.2e-5	SMART
NEBU	2491	2521	8.07e-2	SMART
NEBU	2526	2556	1.92e-8	SMART
NEBU	2561	2591	1.08e-2	SMART
NEBU	2596	2626	7.07e-7	SMART
NEBU	2627	2657	2.39e-4	SMART
NEBU	2658	2688	2.39e-4	SMART
NEBU	2689	2719	5.97e-5	SMART
NEBU	2720	2750	2.08e-4	SMART
NEBU	2751	2781	1.02e-3	SMART
NEBU	2787	2817	2.14e-6	SMART
NEBU	2822	2852	1.66e0	SMART
low complexity region	2902	2916	N/A	INTRINSIC
SH3	2988	3044	5.11e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036934
AA Change: I5536V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047763
Gene: ENSMUSG00000026950
AA Change: I5536V

Domain	Start	End	E-Value	Type
low complexity region	4	39	N/A	INTRINSIC
low complexity region	47	60	N/A	INTRINSIC
NEBU	71	102	3.88e-4	SMART
NEBU	108	138	4e-6	SMART
NEBU	143	173	2.3e-6	SMART
NEBU	178	208	2.06e-8	SMART
NEBU	213	243	1.58e-4	SMART
NEBU	248	278	6.01e-10	SMART
NEBU	284	313	1.14e-1	SMART
NEBU	319	349	6.5e-6	SMART
NEBU	358	388	4.39e-3	SMART
NEBU	393	423	6.01e0	SMART
NEBU	429	459	5.12e-4	SMART
NEBU	497	527	5.74e-7	SMART
NEBU	532	562	5.83e-8	SMART
NEBU	568	598	7.69e-8	SMART
NEBU	606	636	2.87e-7	SMART
NEBU	676	706	3.1e-3	SMART
NEBU	744	774	4.59e-6	SMART
NEBU	779	809	9.47e-8	SMART
NEBU	815	845	7.69e-8	SMART
NEBU	853	883	1.17e-7	SMART
NEBU	888	918	4.74e-8	SMART
NEBU	919	949	9.47e-8	SMART
NEBU	954	985	2.05e-3	SMART
NEBU	988	1018	2.11e-5	SMART
NEBU	1023	1053	8.7e-7	SMART
NEBU	1059	1089	8.7e-7	SMART
NEBU	1097	1127	8.25e-8	SMART
NEBU	1132	1162	8e-6	SMART
NEBU	1163	1193	3.79e-7	SMART
NEBU	1199	1229	8.65e-2	SMART
NEBU	1232	1262	1.05e-9	SMART
NEBU	1267	1297	1.92e-8	SMART
NEBU	1303	1333	7.35e-5	SMART
NEBU	1341	1371	9.33e-7	SMART
NEBU	1376	1406	1.18e-3	SMART
NEBU	1407	1437	7.88e-5	SMART
NEBU	1443	1473	1.33e-2	SMART
NEBU	1476	1506	9.47e-8	SMART
NEBU	1511	1541	7.18e-8	SMART
NEBU	1547	1577	7.46e-6	SMART
NEBU	1585	1615	1.07e-6	SMART
NEBU	1620	1650	3.56e-3	SMART
NEBU	1651	1681	9.33e-7	SMART
NEBU	1687	1717	5.36e-7	SMART
NEBU	1720	1750	1.4e-1	SMART
NEBU	1755	1785	3.59e-8	SMART
NEBU	1791	1821	8e-6	SMART
NEBU	1829	1859	1.92e-8	SMART
NEBU	1864	1894	1.61e-1	SMART
NEBU	1895	1925	6.15e-7	SMART
NEBU	1931	1961	2.02e-2	SMART
NEBU	1964	1994	1.77e-7	SMART
NEBU	1999	2029	1.02e-7	SMART
NEBU	2035	2065	3.25e-6	SMART
NEBU	2073	2103	1.18e-8	SMART
NEBU	2108	2138	2.7e-3	SMART
NEBU	2139	2169	4.85e-5	SMART
NEBU	2175	2205	1.22e-1	SMART
NEBU	2208	2238	2.94e-4	SMART
NEBU	2243	2273	1.67e-8	SMART
NEBU	2279	2309	5.12e-4	SMART
NEBU	2317	2347	1.36e-8	SMART
NEBU	2352	2382	4.85e-5	SMART
NEBU	2383	2413	8.57e-6	SMART
NEBU	2418	2448	1.24e-2	SMART
NEBU	2451	2481	2.09e-9	SMART
NEBU	2486	2516	4e-6	SMART
NEBU	2522	2552	6.5e-6	SMART
NEBU	2560	2590	4.06e-7	SMART
NEBU	2595	2625	2.39e-4	SMART
NEBU	2626	2656	3.43e-5	SMART
NEBU	2661	2691	1.48e0	SMART
NEBU	2694	2724	1.84e-5	SMART
NEBU	2729	2759	3.53e-7	SMART
NEBU	2765	2795	3.15e-4	SMART
NEBU	2803	2833	1.23e-6	SMART
NEBU	2838	2868	2.39e-4	SMART
NEBU	2869	2899	5.97e-5	SMART
NEBU	2904	2934	1.33e-2	SMART
NEBU	2937	2967	1.21e-5	SMART
NEBU	2972	3002	8.32e-4	SMART
NEBU	3008	3038	1.04e-4	SMART
NEBU	3046	3076	4.06e-7	SMART
NEBU	3081	3111	3.73e-6	SMART
NEBU	3112	3142	1.28e-4	SMART
NEBU	3147	3177	3.76e-2	SMART
NEBU	3180	3210	3.25e-6	SMART
NEBU	3215	3245	5.97e-5	SMART
NEBU	3251	3281	2.39e-4	SMART
NEBU	3289	3319	3.3e-7	SMART
NEBU	3324	3354	3.94e-5	SMART
NEBU	3355	3385	1.28e-4	SMART
NEBU	3390	3420	3.76e-2	SMART
NEBU	3423	3453	3.25e-6	SMART
NEBU	3458	3488	2.94e-4	SMART
NEBU	3494	3524	1.84e-5	SMART
NEBU	3532	3562	5.2e-5	SMART
NEBU	3567	3597	3.53e-7	SMART
NEBU	3598	3628	1.32e-6	SMART
NEBU	3633	3663	2.32e-2	SMART
NEBU	3666	3696	5.2e-5	SMART
NEBU	3701	3731	1.15e-6	SMART
NEBU	3737	3767	1.81e-4	SMART
NEBU	3775	3805	4.06e-7	SMART
NEBU	3810	3840	3.73e-6	SMART
NEBU	3841	3871	1.97e-5	SMART
NEBU	3876	3906	2.66e-2	SMART
NEBU	3909	3939	8.12e-7	SMART
NEBU	3944	3974	1.1e-8	SMART
NEBU	3980	4010	2.99e-5	SMART
NEBU	4018	4048	1.07e-6	SMART
NEBU	4053	4083	3.94e-5	SMART
NEBU	4084	4114	2.42e-5	SMART
NEBU	4118	4149	2.66e-2	SMART
NEBU	4152	4182	3.64e-9	SMART
NEBU	4187	4217	1.44e-7	SMART
NEBU	4223	4253	2.87e-7	SMART
NEBU	4261	4291	2.83e-6	SMART
NEBU	4296	4326	5.66e-6	SMART
NEBU	4327	4357	6.06e-6	SMART
NEBU	4361	4392	1.34e1	SMART
NEBU	4395	4425	2.06e-8	SMART
NEBU	4430	4460	1.67e-8	SMART
NEBU	4465	4495	8.57e-6	SMART
NEBU	4502	4533	8.47e0	SMART
NEBU	4538	4568	5.2e-5	SMART
NEBU	4569	4599	1.07e-6	SMART
NEBU	4604	4634	9.55e-4	SMART
NEBU	4637	4667	6.21e-3	SMART
NEBU	4672	4701	4.89e-1	SMART
NEBU	4707	4737	4.7e-3	SMART
NEBU	4745	4775	1.16e-2	SMART
NEBU	4780	4810	5.32e-2	SMART
NEBU	4811	4841	3.62e-4	SMART
NEBU	4846	4876	1.88e-2	SMART
NEBU	4881	4911	1.59e-9	SMART
NEBU	4916	4946	2.7e-3	SMART
NEBU	4952	4982	4.93e0	SMART
NEBU	4990	5020	2.89e1	SMART
NEBU	5025	5055	1.94e-4	SMART
NEBU	5056	5086	3.2e-5	SMART
NEBU	5091	5121	3.71e-1	SMART
NEBU	5126	5156	1.52e-6	SMART
NEBU	5161	5191	4.56e-1	SMART
NEBU	5197	5227	2.39e-4	SMART
NEBU	5235	5265	1.59e1	SMART
NEBU	5270	5300	4.32e-2	SMART
NEBU	5301	5331	4.39e0	SMART
NEBU	5336	5366	5.04e-3	SMART
NEBU	5371	5401	8.78e-3	SMART
NEBU	5407	5437	6.02e-1	SMART
NEBU	5442	5472	5.24e-1	SMART
NEBU	5478	5508	1.53e-2	SMART
NEBU	5513	5543	1.94e-4	SMART
NEBU	5548	5578	1.16e-2	SMART
NEBU	5583	5613	2.51e1	SMART
NEBU	5618	5648	2.81e-1	SMART
NEBU	5653	5683	7.64e-3	SMART
NEBU	5688	5718	5.62e-1	SMART
NEBU	5723	5753	1.49e-5	SMART
NEBU	5758	5788	3.97e-1	SMART
NEBU	5793	5823	1.47e-4	SMART
NEBU	5828	5858	6.45e-1	SMART
NEBU	5863	5893	1.28e-4	SMART
NEBU	5898	5928	9.33e-7	SMART
NEBU	5933	5963	7.58e-7	SMART
NEBU	5969	5999	1.94e-4	SMART
NEBU	6004	6034	9.93e-2	SMART
NEBU	6039	6069	2.45e-1	SMART
NEBU	6074	6104	8.39e-1	SMART
NEBU	6109	6139	1e-6	SMART
NEBU	6146	6176	7.35e-5	SMART
NEBU	6183	6213	1.37e-4	SMART
NEBU	6217	6247	2.83e-6	SMART
NEBU	6252	6282	1.52e-6	SMART
NEBU	6289	6319	5.21e0	SMART
NEBU	6324	6354	7.53e-2	SMART
NEBU	6359	6389	2.5e-7	SMART
NEBU	6392	6424	1.16e-2	SMART
NEBU	6431	6461	1.47e-4	SMART
NEBU	6468	6498	3.2e-5	SMART
NEBU	6506	6536	8.07e-2	SMART
NEBU	6541	6571	1.92e-8	SMART
NEBU	6576	6606	1.08e-2	SMART
NEBU	6611	6641	7.07e-7	SMART
NEBU	6642	6672	2.39e-4	SMART
NEBU	6673	6703	2.39e-4	SMART
NEBU	6704	6734	5.97e-5	SMART
NEBU	6735	6765	4.46e-4	SMART
NEBU	6766	6796	2.18e-7	SMART
NEBU	6797	6827	2.64e-6	SMART
NEBU	6828	6858	6.96e-6	SMART
NEBU	6859	6889	6.3e-4	SMART
NEBU	6895	6925	2.14e-6	SMART
NEBU	6930	6960	1.66e0	SMART
low complexity region	7010	7024	N/A	INTRINSIC
SH3	7096	7152	5.11e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075301
AA Change: I5293V

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074773
Gene: ENSMUSG00000026950
AA Change: I5293V

Domain	Start	End	E-Value	Type
low complexity region	4	39	N/A	INTRINSIC
low complexity region	47	60	N/A	INTRINSIC
NEBU	71	102	3.88e-4	SMART
NEBU	108	138	4e-6	SMART
NEBU	143	173	2.3e-6	SMART
NEBU	178	208	2.06e-8	SMART
NEBU	213	243	1.58e-4	SMART
NEBU	248	278	6.01e-10	SMART
NEBU	284	313	1.14e-1	SMART
NEBU	319	349	6.5e-6	SMART
NEBU	358	388	4.39e-3	SMART
NEBU	393	423	6.01e0	SMART
NEBU	429	459	5.12e-4	SMART
NEBU	497	527	5.74e-7	SMART
NEBU	532	562	5.83e-8	SMART
NEBU	568	598	7.69e-8	SMART
NEBU	606	636	2.87e-7	SMART
NEBU	676	706	3.1e-3	SMART
NEBU	744	774	4.59e-6	SMART
NEBU	779	809	9.47e-8	SMART
NEBU	815	845	7.69e-8	SMART
NEBU	853	883	1.17e-7	SMART
NEBU	888	918	4.74e-8	SMART
NEBU	919	949	9.47e-8	SMART
NEBU	954	985	2.05e-3	SMART
NEBU	988	1018	2.11e-5	SMART
NEBU	1023	1053	8.7e-7	SMART
NEBU	1059	1089	8.7e-7	SMART
NEBU	1097	1127	8.25e-8	SMART
NEBU	1132	1162	8e-6	SMART
NEBU	1163	1193	3.79e-7	SMART
NEBU	1199	1229	8.65e-2	SMART
NEBU	1232	1262	1.05e-9	SMART
NEBU	1267	1297	1.92e-8	SMART
NEBU	1303	1333	7.35e-5	SMART
NEBU	1341	1371	9.33e-7	SMART
NEBU	1376	1406	1.18e-3	SMART
NEBU	1407	1437	7.88e-5	SMART
NEBU	1443	1473	1.33e-2	SMART
NEBU	1476	1506	9.47e-8	SMART
NEBU	1511	1541	7.18e-8	SMART
NEBU	1547	1577	7.46e-6	SMART
NEBU	1585	1615	1.07e-6	SMART
NEBU	1620	1650	3.56e-3	SMART
NEBU	1651	1681	9.33e-7	SMART
NEBU	1687	1717	5.36e-7	SMART
NEBU	1720	1750	1.4e-1	SMART
NEBU	1755	1785	3.59e-8	SMART
NEBU	1791	1821	8e-6	SMART
NEBU	1829	1859	1.92e-8	SMART
NEBU	1864	1894	1.61e-1	SMART
NEBU	1895	1925	6.15e-7	SMART
NEBU	1931	1961	2.02e-2	SMART
NEBU	1964	1994	1.77e-7	SMART
NEBU	1999	2029	1.02e-7	SMART
NEBU	2035	2065	3.25e-6	SMART
NEBU	2073	2103	1.18e-8	SMART
NEBU	2108	2138	2.7e-3	SMART
NEBU	2139	2169	4.85e-5	SMART
NEBU	2175	2205	1.22e-1	SMART
NEBU	2208	2238	2.94e-4	SMART
NEBU	2243	2273	1.67e-8	SMART
NEBU	2279	2309	5.12e-4	SMART
NEBU	2317	2347	1.36e-8	SMART
NEBU	2352	2382	4.85e-5	SMART
NEBU	2383	2413	8.57e-6	SMART
NEBU	2418	2448	1.24e-2	SMART
NEBU	2451	2481	2.09e-9	SMART
NEBU	2486	2516	4e-6	SMART
NEBU	2522	2552	6.5e-6	SMART
NEBU	2560	2590	4.06e-7	SMART
NEBU	2595	2625	2.39e-4	SMART
NEBU	2626	2656	3.43e-5	SMART
NEBU	2661	2691	1.48e0	SMART
NEBU	2694	2724	1.84e-5	SMART
NEBU	2729	2759	3.53e-7	SMART
NEBU	2765	2795	3.15e-4	SMART
NEBU	2803	2833	1.23e-6	SMART
NEBU	2838	2868	2.39e-4	SMART
NEBU	2869	2899	5.97e-5	SMART
NEBU	2904	2934	1.33e-2	SMART
NEBU	2937	2967	1.21e-5	SMART
NEBU	2972	3002	8.32e-4	SMART
NEBU	3008	3038	1.04e-4	SMART
NEBU	3046	3076	4.06e-7	SMART
NEBU	3081	3111	3.73e-6	SMART
NEBU	3112	3142	1.28e-4	SMART
NEBU	3147	3177	3.76e-2	SMART
NEBU	3180	3210	3.25e-6	SMART
NEBU	3215	3245	5.97e-5	SMART
NEBU	3251	3281	2.39e-4	SMART
NEBU	3289	3319	3.3e-7	SMART
NEBU	3324	3354	3.94e-5	SMART
NEBU	3355	3385	1.28e-4	SMART
NEBU	3390	3420	3.76e-2	SMART
NEBU	3423	3453	3.25e-6	SMART
NEBU	3458	3488	2.94e-4	SMART
NEBU	3494	3524	1.84e-5	SMART
NEBU	3532	3562	5.2e-5	SMART
NEBU	3567	3597	3.53e-7	SMART
NEBU	3598	3628	1.32e-6	SMART
NEBU	3633	3663	2.32e-2	SMART
NEBU	3666	3696	5.2e-5	SMART
NEBU	3701	3731	1.15e-6	SMART
NEBU	3737	3767	1.81e-4	SMART
NEBU	3775	3805	4.06e-7	SMART
NEBU	3810	3840	3.73e-6	SMART
NEBU	3841	3871	1.97e-5	SMART
NEBU	3876	3906	2.66e-2	SMART
NEBU	3909	3939	8.12e-7	SMART
NEBU	3944	3974	1.1e-8	SMART
NEBU	3980	4010	2.99e-5	SMART
NEBU	4018	4048	1.07e-6	SMART
NEBU	4053	4083	3.94e-5	SMART
NEBU	4084	4114	2.83e-6	SMART
NEBU	4118	4149	1.34e1	SMART
NEBU	4152	4182	2.06e-8	SMART
NEBU	4187	4217	1.67e-8	SMART
NEBU	4222	4252	8.57e-6	SMART
NEBU	4259	4290	8.47e0	SMART
NEBU	4295	4325	5.2e-5	SMART
NEBU	4326	4356	1.07e-6	SMART
NEBU	4361	4391	9.55e-4	SMART
NEBU	4394	4424	6.21e-3	SMART
NEBU	4429	4458	4.89e-1	SMART
NEBU	4464	4494	4.7e-3	SMART
NEBU	4502	4532	1.16e-2	SMART
NEBU	4537	4567	5.32e-2	SMART
NEBU	4568	4598	3.62e-4	SMART
NEBU	4603	4633	1.88e-2	SMART
NEBU	4638	4668	1.59e-9	SMART
NEBU	4673	4703	2.7e-3	SMART
NEBU	4709	4739	4.93e0	SMART
NEBU	4747	4777	2.89e1	SMART
NEBU	4782	4812	1.94e-4	SMART
NEBU	4813	4843	3.2e-5	SMART
NEBU	4848	4878	3.71e-1	SMART
NEBU	4883	4913	1.52e-6	SMART
NEBU	4918	4948	4.56e-1	SMART
NEBU	4954	4984	2.39e-4	SMART
NEBU	4992	5022	1.59e1	SMART
NEBU	5027	5057	4.32e-2	SMART
NEBU	5058	5088	4.39e0	SMART
NEBU	5093	5123	5.04e-3	SMART
NEBU	5128	5158	8.78e-3	SMART
NEBU	5164	5194	6.02e-1	SMART
NEBU	5199	5229	5.24e-1	SMART
NEBU	5235	5265	1.53e-2	SMART
NEBU	5270	5300	1.94e-4	SMART
NEBU	5305	5335	1.16e-2	SMART
NEBU	5340	5370	2.51e1	SMART
NEBU	5375	5405	2.81e-1	SMART
NEBU	5410	5440	7.64e-3	SMART
NEBU	5445	5475	5.62e-1	SMART
NEBU	5480	5510	1.49e-5	SMART
NEBU	5515	5545	3.97e-1	SMART
NEBU	5550	5580	1.47e-4	SMART
NEBU	5585	5615	6.45e-1	SMART
NEBU	5620	5650	1.28e-4	SMART
NEBU	5655	5685	9.33e-7	SMART
NEBU	5690	5720	7.58e-7	SMART
NEBU	5726	5756	1.94e-4	SMART
NEBU	5761	5791	9.93e-2	SMART
NEBU	5796	5826	2.45e-1	SMART
NEBU	5831	5861	8.39e-1	SMART
NEBU	5866	5896	1e-6	SMART
NEBU	5903	5933	7.35e-5	SMART
NEBU	5940	5970	1.37e-4	SMART
NEBU	5974	6004	2.83e-6	SMART
NEBU	6009	6039	1.52e-6	SMART
NEBU	6046	6076	5.21e0	SMART
NEBU	6081	6111	7.53e-2	SMART
NEBU	6116	6146	2.5e-7	SMART
NEBU	6149	6181	1.16e-2	SMART
NEBU	6188	6218	1.47e-4	SMART
NEBU	6225	6255	3.2e-5	SMART
NEBU	6263	6293	8.07e-2	SMART
NEBU	6298	6328	1.92e-8	SMART
NEBU	6333	6363	1.08e-2	SMART
NEBU	6368	6398	7.07e-7	SMART
NEBU	6399	6429	2.39e-4	SMART
NEBU	6430	6460	2.39e-4	SMART
NEBU	6461	6491	5.97e-5	SMART
NEBU	6492	6522	2.08e-4	SMART
NEBU	6523	6553	2.68e-7	SMART
NEBU	6554	6584	2.64e-6	SMART
NEBU	6585	6615	6.96e-6	SMART
NEBU	6616	6646	6.3e-4	SMART
NEBU	6652	6682	2.14e-6	SMART
NEBU	6687	6717	1.66e0	SMART
low complexity region	6767	6781	N/A	INTRINSIC
SH3	6853	6909	5.11e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148356

SMART Domains

Protein: ENSMUSP00000133401
Gene: ENSMUSG00000026950

Domain	Start	End	E-Value	Type
NEBU	2	26	1.23e1	SMART
NEBU	31	61	1.49e-5	SMART
NEBU	66	96	3.97e-1	SMART
NEBU	101	131	1.47e-4	SMART
NEBU	136	166	6.45e-1	SMART
NEBU	171	201	1.76e0	SMART
NEBU	207	236	2.62e-1	SMART
NEBU	241	271	7.58e-7	SMART
NEBU	277	307	1.94e-4	SMART
NEBU	312	342	9.93e-2	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,393	T20I	probably benign	Het
Adamts2	C	T	11: 50,788,689	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,589,550		probably null	Het
Ankrd61	T	C	5: 143,897,076		probably benign	Het
Anpep	T	G	7: 79,838,291	Y506S	possibly damaging	Het
Aox2	T	A	1: 58,343,673	H1037Q	probably benign	Het
Auh	G	A	13: 52,898,719	R47*	probably null	Het
B4galt5	T	A	2: 167,306,638	M187L	probably benign	Het
Bub1	A	T	2: 127,801,423	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,626,448		probably null	Het
Cdh3	T	C	8: 106,552,407	L667P	probably damaging	Het
Cenpe	A	T	3: 135,241,073	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,073,341	M136L	possibly damaging	Het
Cfap54	T	C	10: 92,997,374	E1130G	possibly damaging	Het
Chd9	C	T	8: 91,033,987	P2120L	probably benign	Het
Clu	T	C	14: 65,975,003	V135A	probably damaging	Het
Cmip	T	A	8: 117,436,693	S388T	probably benign	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cox4i1	T	A	8: 120,673,290	V51E	possibly damaging	Het
Crym	T	C	7: 120,201,827	N33S	probably benign	Het
Ctcf	T	A	8: 105,671,384	V434E	probably damaging	Het
D430042O09Rik	T	A	7: 125,795,343	V197D	probably benign	Het
Daam1	G	A	12: 71,975,223	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,145,152	Y383C	probably benign	Het
Dock2	T	C	11: 34,312,485	T957A	probably benign	Het
Duox1	A	G	2: 122,333,138	D817G	probably benign	Het
Fads3	A	G	19: 10,056,454	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,528,854		probably null	Het
Fbxw21	C	A	9: 109,145,485	K322N	probably benign	Het
Fdxr	G	A	11: 115,271,980	T100I	probably damaging	Het
Galnt11	C	G	5: 25,247,612	P41A	probably damaging	Het
Glb1l	T	C	1: 75,201,829	T322A	probably damaging	Het
Gm6803	T	C	12: 88,018,488	Y95C	probably damaging	Het
Gm6871	T	A	7: 41,547,990	T149S	probably benign	Het
Gpr26	C	T	7: 131,967,094	T56I	probably damaging	Het
Grik4	C	A	9: 42,622,142	G361C	probably damaging	Het
Gsr	T	G	8: 33,680,288	D200E	probably benign	Het
Igsf5	T	A	16: 96,364,047	D7E	probably benign	Het
Inpp5e	T	A	2: 26,399,343	I522F	probably damaging	Het
Insm2	C	A	12: 55,600,311	T280K	probably benign	Het
Itih4	T	C	14: 30,895,478	V585A	probably damaging	Het
Knl1	A	T	2: 119,058,368	R17*	probably null	Het
Lag3	G	T	6: 124,911,309	L15I	possibly damaging	Het
Lepr	T	A	4: 101,790,896	S861T	probably damaging	Het
Mcur1	A	T	13: 43,544,465	Y320N	probably damaging	Het
Mgam	A	T	6: 40,759,783	D872V	probably damaging	Het
Mlycd	T	C	8: 119,407,707		probably null	Het
Mpl	C	A	4: 118,455,757	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,131,245	A4142S	probably damaging	Het
Myh1	T	A	11: 67,213,598	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,790,061	D11E	probably benign	Het
Notch1	A	G	2: 26,465,473	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,995,524	S236P	possibly damaging	Het
Olfr1056	A	G	2: 86,356,364	L6P	possibly damaging	Het
Olfr1181	T	C	2: 88,423,456	T190A	possibly damaging	Het
Olfr798	T	A	10: 129,625,915	I49L	probably benign	Het
Otogl	A	G	10: 107,874,500	L576P	probably damaging	Het
P2ry1	C	T	3: 61,003,479	T13M	probably damaging	Het
Pak6	A	T	2: 118,694,569	R559*	probably null	Het
Papd4	A	G	13: 93,184,218	L109S	probably damaging	Het
Parvb	A	T	15: 84,297,970	M234L	probably benign	Het
Pcdha11	T	C	18: 37,012,854	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,526,857	Y775*	probably null	Het
Pgam5	A	G	5: 110,266,003	L98P	probably damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Pkib	T	G	10: 57,728,109	D4E	probably damaging	Het
Plcb1	A	T	2: 135,260,508	I202F	probably benign	Het
Pold3	A	G	7: 100,121,383	V14A	probably damaging	Het
Prdm1	T	A	10: 44,446,807	T249S	probably benign	Het
Prpf39	T	A	12: 65,057,815	F551L	probably benign	Het
Prune2	A	G	19: 17,122,622	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,718,201	P889S	probably damaging	Het
Rassf2	A	T	2: 131,998,243		probably null	Het
Rnf185	A	G	11: 3,418,067	Y204H	probably benign	Het
Rpap1	A	G	2: 119,780,054		probably null	Het
Rufy3	T	C	5: 88,649,898	S645P	probably damaging	Het
Scn11a	T	A	9: 119,765,529	Y1266F	probably damaging	Het
Senp7	T	A	16: 56,151,362	H287Q	probably benign	Het
Sgsm3	T	C	15: 81,003,872		probably null	Het
Slc25a11	A	T	11: 70,645,832	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190	T175I	probably benign	Het
Slc26a3	T	A	12: 31,470,903	F702Y	probably damaging	Het
Smco2	T	A	6: 146,859,967	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,965,607	C90S	probably damaging	Het
Sspo	T	C	6: 48,464,364	S1835P	probably damaging	Het
Stk35	A	G	2: 129,801,515	T140A	probably damaging	Het
Syngr1	C	T	15: 80,111,740	T160M	probably damaging	Het
Tgfb1i1	A	G	7: 128,248,913		probably null	Het
Thoc1	T	A	18: 9,977,947	V296E	probably damaging	Het
Timp2	C	T	11: 118,310,586	C75Y	probably damaging	Het
Tlr1	T	C	5: 64,925,296	Y646C	probably damaging	Het
Tprn	G	A	2: 25,268,928	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,135,490	I74L	probably benign	Het
Trbv5	T	A	6: 41,062,621	Y53*	probably null	Het
Trpm5	T	C	7: 143,088,919	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,955,567	D88G	probably damaging	Het
Ucp2	A	T	7: 100,498,413	I200F	probably benign	Het
Unc45a	G	A	7: 80,338,875	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,360,870	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,223,572	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,733,967	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,257,474	M225K	probably benign	Het
Wdr24	A	T	17: 25,824,299	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,624,783	T529S	probably benign	Het
Zc3h4	A	G	7: 16,434,339	H791R	unknown	Het
Zfp24	A	G	18: 24,017,870	L73P	probably damaging	Het
Zfp616	T	C	11: 74,083,295	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,677,430		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,677,431		probably benign	Het

Other mutations in Neb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Neb	APN	2	52308747	missense	possibly damaging	0.55
IGL00232:Neb	APN	2	52235556	missense	possibly damaging	0.83
IGL00501:Neb	APN	2	52295344	missense	probably benign	0.02
IGL00548:Neb	APN	2	52243972	missense	probably benign	0.33
IGL00556:Neb	APN	2	52191949	missense	probably benign	0.16
IGL00561:Neb	APN	2	52206105	missense	probably benign	0.00
IGL00598:Neb	APN	2	52208301	missense	possibly damaging	0.62
IGL00788:Neb	APN	2	52205732	splice site	probably benign
IGL00817:Neb	APN	2	52243195	missense	probably damaging	1.00
IGL00926:Neb	APN	2	52270317	splice site	probably benign
IGL00975:Neb	APN	2	52212728	missense	probably benign	0.01
IGL01012:Neb	APN	2	52196361	missense	probably benign
IGL01014:Neb	APN	2	52287158	missense	probably benign	0.11
IGL01419:Neb	APN	2	52226533	nonsense	probably null
IGL01420:Neb	APN	2	52157377	missense	probably damaging	1.00
IGL01459:Neb	APN	2	52176792	missense	probably damaging	1.00
IGL01467:Neb	APN	2	52159487	missense	possibly damaging	0.55
IGL01474:Neb	APN	2	52328905	missense	unknown
IGL01506:Neb	APN	2	52247190	missense	probably damaging	1.00
IGL01544:Neb	APN	2	52292905	missense	possibly damaging	0.62
IGL01608:Neb	APN	2	52170536	missense	probably damaging	1.00
IGL01681:Neb	APN	2	52201486	missense	probably damaging	1.00
IGL01717:Neb	APN	2	52189867	missense	probably damaging	1.00
IGL01743:Neb	APN	2	52225667	missense	probably damaging	1.00
IGL01774:Neb	APN	2	52222970	nonsense	probably null
IGL01787:Neb	APN	2	52296355	missense	possibly damaging	0.56
IGL01822:Neb	APN	2	52258746	missense	possibly damaging	0.68
IGL01844:Neb	APN	2	52170549	missense	probably benign	0.01
IGL01871:Neb	APN	2	52153069	missense	probably damaging	0.99
IGL01878:Neb	APN	2	52169840	splice site	probably benign
IGL01886:Neb	APN	2	52183845	splice site	probably benign
IGL01897:Neb	APN	2	52280575	missense	possibly damaging	0.88
IGL02025:Neb	APN	2	52307739	missense	probably benign	0.17
IGL02133:Neb	APN	2	52212804	splice site	probably null
IGL02143:Neb	APN	2	52291199	missense	probably damaging	0.99
IGL02212:Neb	APN	2	52308311	missense	probably damaging	1.00
IGL02216:Neb	APN	2	52226490	missense	probably benign	0.00
IGL02260:Neb	APN	2	52205656	missense	probably damaging	1.00
IGL02364:Neb	APN	2	52296254	nonsense	probably null
IGL02424:Neb	APN	2	52264191	missense	probably damaging	1.00
IGL02449:Neb	APN	2	52201906	missense	probably benign	0.00
IGL02465:Neb	APN	2	52193165	unclassified	probably benign
IGL02475:Neb	APN	2	52292819	missense	probably damaging	1.00
IGL02486:Neb	APN	2	52282603	missense	possibly damaging	0.86
IGL02527:Neb	APN	2	52263947	missense	probably damaging	1.00
IGL02527:Neb	APN	2	52149213	missense	probably benign	0.36
IGL02547:Neb	APN	2	52188730	missense	probably damaging	1.00
IGL02648:Neb	APN	2	52271081	missense	possibly damaging	0.79
IGL02685:Neb	APN	2	52175301	missense	possibly damaging	0.93
IGL02695:Neb	APN	2	52255591	missense	probably damaging	1.00
IGL02695:Neb	APN	2	52211596	splice site	probably benign
IGL02731:Neb	APN	2	52160703	missense	probably damaging	1.00
IGL02738:Neb	APN	2	52243850	missense	probably damaging	0.99
IGL02750:Neb	APN	2	52291055	missense	probably benign	0.00
IGL02879:Neb	APN	2	52256685	missense	possibly damaging	0.95
IGL02887:Neb	APN	2	52200721	missense	possibly damaging	0.67
IGL02975:Neb	APN	2	52298867	missense	probably damaging	0.99
IGL03009:Neb	APN	2	52179456	splice site	probably benign
IGL03036:Neb	APN	2	52244153	missense	probably damaging	1.00
IGL03076:Neb	APN	2	52169088	missense	probably damaging	0.99
IGL03091:Neb	APN	2	52271312	missense	probably benign	0.08
IGL03095:Neb	APN	2	52169088	missense	probably damaging	0.99
IGL03096:Neb	APN	2	52249472	missense	possibly damaging	0.59
IGL03107:Neb	APN	2	52183825	missense	probably benign	0.41
IGL03171:Neb	APN	2	52216364	splice site	probably benign
IGL03179:Neb	APN	2	52176641	missense	probably damaging	1.00
IGL03186:Neb	APN	2	52169088	missense	probably damaging	0.99
IGL03186:Neb	APN	2	52210659	splice site	probably benign
IGL03187:Neb	APN	2	52169088	missense	probably damaging	0.99
IGL03209:Neb	APN	2	52290819	missense	probably damaging	1.00
IGL03214:Neb	APN	2	52159548	missense	probably damaging	1.00
IGL03214:Neb	APN	2	52197844	missense	possibly damaging	0.75
IGL03233:Neb	APN	2	52308301	missense	possibly damaging	0.93
IGL03287:Neb	APN	2	52137323	missense	probably damaging	1.00
IGL03349:Neb	APN	2	52278952	missense	possibly damaging	0.88
IGL03369:Neb	APN	2	52178037	missense	probably benign
IGL03382:Neb	APN	2	52325708	missense	probably benign	0.00
IGL03410:Neb	APN	2	52319705	missense	probably benign	0.00
IGL03411:Neb	APN	2	52292878	missense	probably benign
Fraulein	UTSW	2	52298894	missense	probably damaging	1.00
mademoiselle	UTSW	2	52207725	missense	probably damaging	0.99
monsieur	UTSW	2	52305283	critical splice donor site	probably null
old_folks	UTSW	2	52211556	missense	probably damaging	0.96
teenage	UTSW	2	52271297	critical splice donor site	probably null
wedding	UTSW	2	52292695	missense	possibly damaging	0.89
IGL03054:Neb	UTSW	2	52271322	missense	probably damaging	1.00
PIT4354001:Neb	UTSW	2	52245318	missense	probably damaging	0.99
PIT4495001:Neb	UTSW	2	52212736	missense	probably benign	0.00
PIT4581001:Neb	UTSW	2	52288802	missense	probably damaging	0.98
R0014:Neb	UTSW	2	52287156	missense	probably damaging	0.99
R0014:Neb	UTSW	2	52287156	missense	probably damaging	0.99
R0025:Neb	UTSW	2	52222774	missense	probably damaging	0.99
R0049:Neb	UTSW	2	52170467	missense	possibly damaging	0.86
R0049:Neb	UTSW	2	52170467	missense	possibly damaging	0.86
R0052:Neb	UTSW	2	52273980	missense	possibly damaging	0.62
R0066:Neb	UTSW	2	52306530	missense	probably damaging	1.00
R0066:Neb	UTSW	2	52306530	missense	probably damaging	1.00
R0097:Neb	UTSW	2	52204894	missense	probably damaging	1.00
R0097:Neb	UTSW	2	52204894	missense	probably damaging	1.00
R0110:Neb	UTSW	2	52290743	splice site	probably benign
R0147:Neb	UTSW	2	52249376	missense	probably damaging	0.99
R0148:Neb	UTSW	2	52249376	missense	probably damaging	0.99
R0173:Neb	UTSW	2	52243847	missense	probably damaging	1.00
R0201:Neb	UTSW	2	52206878	splice site	probably benign
R0254:Neb	UTSW	2	52243390	missense	probably damaging	1.00
R0295:Neb	UTSW	2	52284285	missense	possibly damaging	0.90
R0314:Neb	UTSW	2	52243331	missense	probably benign	0.01
R0316:Neb	UTSW	2	52195470	missense	possibly damaging	0.96
R0380:Neb	UTSW	2	52232202	missense	probably damaging	1.00
R0389:Neb	UTSW	2	52161477	critical splice acceptor site	probably null
R0394:Neb	UTSW	2	52177559	unclassified	probably null
R0401:Neb	UTSW	2	52188677	splice site	probably benign
R0413:Neb	UTSW	2	52290739	splice site	probably benign
R0427:Neb	UTSW	2	52243884	missense	possibly damaging	0.83
R0427:Neb	UTSW	2	52244069	missense	probably damaging	0.98
R0443:Neb	UTSW	2	52161477	critical splice acceptor site	probably null
R0453:Neb	UTSW	2	52313890	splice site	probably null
R0468:Neb	UTSW	2	52211556	missense	probably damaging	0.96
R0510:Neb	UTSW	2	52290743	splice site	probably benign
R0513:Neb	UTSW	2	52308687	missense	probably damaging	0.98
R0590:Neb	UTSW	2	52137290	missense	probably damaging	0.99
R0605:Neb	UTSW	2	52264026	missense	possibly damaging	0.92
R0608:Neb	UTSW	2	52326757	missense	probably benign	0.19
R0622:Neb	UTSW	2	52212951	missense	probably benign	0.09
R0639:Neb	UTSW	2	52256124	missense	possibly damaging	0.47
R0656:Neb	UTSW	2	52225558	splice site	probably benign
R0670:Neb	UTSW	2	52256124	missense	possibly damaging	0.47
R0673:Neb	UTSW	2	52256124	missense	possibly damaging	0.47
R0732:Neb	UTSW	2	52258681	missense	probably damaging	1.00
R0732:Neb	UTSW	2	52291268	missense	probably damaging	1.00
R0736:Neb	UTSW	2	52192012	missense	probably damaging	1.00
R0764:Neb	UTSW	2	52216867	unclassified	probably benign
R0811:Neb	UTSW	2	52292695	missense	possibly damaging	0.89
R0812:Neb	UTSW	2	52292695	missense	possibly damaging	0.89
R0839:Neb	UTSW	2	52277548	missense	probably damaging	0.99
R0960:Neb	UTSW	2	52212983	missense	probably benign	0.17
R1026:Neb	UTSW	2	52264110	missense	possibly damaging	0.93
R1076:Neb	UTSW	2	52204892	missense	probably damaging	1.00
R1170:Neb	UTSW	2	52196357	missense	probably damaging	1.00
R1184:Neb	UTSW	2	52263947	missense	probably damaging	1.00
R1185:Neb	UTSW	2	52296298	missense	probably damaging	1.00
R1185:Neb	UTSW	2	52296298	missense	probably damaging	1.00
R1185:Neb	UTSW	2	52296298	missense	probably damaging	1.00
R1200:Neb	UTSW	2	52167645	missense	probably damaging	1.00
R1205:Neb	UTSW	2	52222984	missense	probably damaging	0.97
R1208:Neb	UTSW	2	52303900	nonsense	probably null
R1208:Neb	UTSW	2	52303900	nonsense	probably null
R1229:Neb	UTSW	2	52243943	missense	probably damaging	1.00
R1240:Neb	UTSW	2	52296309	missense	possibly damaging	0.92
R1374:Neb	UTSW	2	52243389	missense	probably damaging	1.00
R1381:Neb	UTSW	2	52260532	missense	probably damaging	1.00
R1397:Neb	UTSW	2	52243943	missense	probably damaging	1.00
R1398:Neb	UTSW	2	52289646	missense	probably damaging	1.00
R1404:Neb	UTSW	2	52183275	missense	possibly damaging	0.95
R1404:Neb	UTSW	2	52183275	missense	possibly damaging	0.95
R1452:Neb	UTSW	2	52271297	critical splice donor site	probably null
R1467:Neb	UTSW	2	52230047	missense	probably damaging	1.00
R1467:Neb	UTSW	2	52230047	missense	probably damaging	1.00
R1477:Neb	UTSW	2	52264122	missense	probably damaging	0.99
R1478:Neb	UTSW	2	52175607	missense	probably benign	0.29
R1496:Neb	UTSW	2	52328734	missense	probably damaging	0.99
R1503:Neb	UTSW	2	52298620	missense	probably damaging	0.96
R1513:Neb	UTSW	2	52227244	missense	probably damaging	1.00
R1600:Neb	UTSW	2	52271604	missense	probably damaging	1.00
R1601:Neb	UTSW	2	52287252	nonsense	probably null
R1638:Neb	UTSW	2	52249281	missense	probably benign	0.05
R1712:Neb	UTSW	2	52243389	missense	probably damaging	1.00
R1717:Neb	UTSW	2	52308747	missense	possibly damaging	0.55
R1720:Neb	UTSW	2	52207721	missense	probably benign	0.02
R1722:Neb	UTSW	2	52256745	missense	probably damaging	1.00
R1765:Neb	UTSW	2	52204664	missense	probably damaging	1.00
R1772:Neb	UTSW	2	52235677	missense	probably damaging	1.00
R1782:Neb	UTSW	2	52284345	nonsense	probably null
R1834:Neb	UTSW	2	52236895	missense	probably damaging	1.00
R1847:Neb	UTSW	2	52196295	missense	possibly damaging	0.80
R1852:Neb	UTSW	2	52228542	missense	probably damaging	0.98
R1862:Neb	UTSW	2	52162187	splice site	probably null
R1864:Neb	UTSW	2	52212760	nonsense	probably null
R1868:Neb	UTSW	2	52326744	missense	probably damaging	0.99
R1880:Neb	UTSW	2	52258731	missense	probably damaging	0.98
R1906:Neb	UTSW	2	52308526	missense	probably damaging	1.00
R1926:Neb	UTSW	2	52279635	missense	probably damaging	1.00
R1944:Neb	UTSW	2	52228850	missense	probably benign	0.23
R1962:Neb	UTSW	2	52272937	nonsense	probably null
R1970:Neb	UTSW	2	52263905	missense	possibly damaging	0.77
R1978:Neb	UTSW	2	52287345	missense	probably damaging	1.00
R1995:Neb	UTSW	2	52298732	missense	probably damaging	1.00
R2000:Neb	UTSW	2	52212970	nonsense	probably null
R2006:Neb	UTSW	2	52199444	missense	probably null	1.00
R2019:Neb	UTSW	2	52232276	nonsense	probably null
R2034:Neb	UTSW	2	52280611	missense	possibly damaging	0.78
R2067:Neb	UTSW	2	52284263	missense	probably benign	0.16
R2104:Neb	UTSW	2	52256814	missense	probably benign	0.14
R2104:Neb	UTSW	2	52271558	missense	probably damaging	1.00
R2111:Neb	UTSW	2	52284263	missense	probably benign	0.16
R2112:Neb	UTSW	2	52328764	missense	probably damaging	1.00
R2120:Neb	UTSW	2	52264064	missense	probably damaging	1.00
R2121:Neb	UTSW	2	52264064	missense	probably damaging	1.00
R2124:Neb	UTSW	2	52264064	missense	probably damaging	1.00
R2125:Neb	UTSW	2	52310638	missense	probably damaging	1.00
R2126:Neb	UTSW	2	52310638	missense	probably damaging	1.00
R2139:Neb	UTSW	2	52212588	missense	probably damaging	0.99
R2207:Neb	UTSW	2	52211567	nonsense	probably null
R2228:Neb	UTSW	2	52232995	missense	probably benign	0.19
R2352:Neb	UTSW	2	52287336	missense	probably damaging	1.00
R2374:Neb	UTSW	2	52263657	missense	probably damaging	1.00
R2413:Neb	UTSW	2	52210632	missense	probably damaging	1.00
R2424:Neb	UTSW	2	52209659	splice site	probably benign
R2426:Neb	UTSW	2	52169053	splice site	probably null
R2512:Neb	UTSW	2	52210831	missense	probably damaging	0.99
R2518:Neb	UTSW	2	52249511	nonsense	probably null
R2899:Neb	UTSW	2	52185323	missense	probably benign
R3500:Neb	UTSW	2	52325785	missense	probably damaging	1.00
R3690:Neb	UTSW	2	52137385	missense	probably damaging	1.00
R3716:Neb	UTSW	2	52277470	missense	probably damaging	1.00
R3717:Neb	UTSW	2	52277470	missense	probably damaging	1.00
R3718:Neb	UTSW	2	52277470	missense	probably damaging	1.00
R3786:Neb	UTSW	2	52201915	missense	probably damaging	1.00
R3809:Neb	UTSW	2	52256789	missense	possibly damaging	0.73
R3840:Neb	UTSW	2	52207660	critical splice donor site	probably null
R3841:Neb	UTSW	2	52207660	critical splice donor site	probably null
R3956:Neb	UTSW	2	52201963	missense	possibly damaging	0.62
R3958:Neb	UTSW	2	52263629	missense	probably damaging	1.00
R4057:Neb	UTSW	2	52206699	missense	possibly damaging	0.89
R4057:Neb	UTSW	2	52237108	missense	probably benign	0.32
R4110:Neb	UTSW	2	52148766	missense	probably benign	0.10
R4110:Neb	UTSW	2	52244125	missense	probably damaging	1.00
R4128:Neb	UTSW	2	52292700	missense	probably damaging	1.00
R4195:Neb	UTSW	2	52271559	missense	probably damaging	1.00
R4195:Neb	UTSW	2	52290835	missense	probably damaging	1.00
R4288:Neb	UTSW	2	52259300	missense	probably damaging	1.00
R4323:Neb	UTSW	2	52264110	missense	possibly damaging	0.93
R4394:Neb	UTSW	2	52187513	nonsense	probably null
R4463:Neb	UTSW	2	52279722	frame shift	probably null
R4527:Neb	UTSW	2	52193237	missense	probably benign	0.42
R4561:Neb	UTSW	2	52286155	missense	probably damaging	1.00
R4612:Neb	UTSW	2	52287243	missense	probably damaging	0.99
R4621:Neb	UTSW	2	52271039	nonsense	probably null
R4628:Neb	UTSW	2	52308350	nonsense	probably null
R4655:Neb	UTSW	2	52227299	missense	probably damaging	0.98
R4660:Neb	UTSW	2	52255588	missense	possibly damaging	0.85
R4683:Neb	UTSW	2	52244062	missense	possibly damaging	0.89
R4687:Neb	UTSW	2	52304035	missense	possibly damaging	0.95
R4690:Neb	UTSW	2	52244075	missense	probably benign	0.25
R4710:Neb	UTSW	2	52260598	missense	probably benign	0.32
R4729:Neb	UTSW	2	52263662	missense	possibly damaging	0.80
R4732:Neb	UTSW	2	52279079	missense	probably damaging	1.00
R4733:Neb	UTSW	2	52279079	missense	probably damaging	1.00
R4738:Neb	UTSW	2	52187482	missense	probably damaging	1.00
R4744:Neb	UTSW	2	52150577	missense	probably benign	0.29
R4755:Neb	UTSW	2	52220209	missense	probably damaging	1.00
R4756:Neb	UTSW	2	52193231	missense	probably damaging	0.96
R4763:Neb	UTSW	2	52237040	nonsense	probably null
R4763:Neb	UTSW	2	52326720	nonsense	probably null
R4770:Neb	UTSW	2	52149153	missense	probably benign	0.00
R4801:Neb	UTSW	2	52200703	missense	possibly damaging	0.65
R4802:Neb	UTSW	2	52200703	missense	possibly damaging	0.65
R4824:Neb	UTSW	2	52204879	missense	possibly damaging	0.86
R4830:Neb	UTSW	2	52192520	missense	probably damaging	0.99
R4855:Neb	UTSW	2	52298894	missense	probably damaging	1.00
R4857:Neb	UTSW	2	52201980	missense	probably damaging	1.00
R4878:Neb	UTSW	2	52219394	missense	probably damaging	1.00
R4885:Neb	UTSW	2	52286046	missense	probably damaging	1.00
R4888:Neb	UTSW	2	52296307	missense	probably benign	0.17
R4928:Neb	UTSW	2	52212975	missense	possibly damaging	0.79
R4954:Neb	UTSW	2	52177518	unclassified	probably null
R4974:Neb	UTSW	2	52246859	missense	probably damaging	1.00
R4979:Neb	UTSW	2	52189909	missense	probably damaging	1.00
R4983:Neb	UTSW	2	52216261	missense	probably damaging	0.99
R4990:Neb	UTSW	2	52255546	missense	probably benign
R5026:Neb	UTSW	2	52204880	missense	possibly damaging	0.94
R5030:Neb	UTSW	2	52334492	start gained	probably benign
R5062:Neb	UTSW	2	52280501	missense	possibly damaging	0.94
R5063:Neb	UTSW	2	52223212	intron	probably benign
R5099:Neb	UTSW	2	52195448	missense	probably damaging	1.00
R5102:Neb	UTSW	2	52226570	missense	possibly damaging	0.70
R5124:Neb	UTSW	2	52281498	missense	probably damaging	1.00
R5150:Neb	UTSW	2	52169118	missense	probably benign	0.09
R5217:Neb	UTSW	2	52162130	nonsense	probably null
R5280:Neb	UTSW	2	52147156	missense	probably damaging	1.00
R5288:Neb	UTSW	2	52189861	missense	probably damaging	0.99
R5314:Neb	UTSW	2	52281503	missense	probably benign	0.22
R5340:Neb	UTSW	2	52223048	missense	probably damaging	1.00
R5375:Neb	UTSW	2	52212584	missense	possibly damaging	0.75
R5385:Neb	UTSW	2	52189861	missense	probably damaging	0.99
R5411:Neb	UTSW	2	52295372	missense	probably damaging	0.98
R5470:Neb	UTSW	2	52249438	missense	possibly damaging	0.88
R5500:Neb	UTSW	2	52162067	critical splice donor site	probably null
R5523:Neb	UTSW	2	52278815	missense	probably benign
R5527:Neb	UTSW	2	52334453	missense	unknown
R5622:Neb	UTSW	2	52270269	missense	probably damaging	0.96
R5625:Neb	UTSW	2	52177535	nonsense	probably null
R5688:Neb	UTSW	2	52196327	missense	probably damaging	1.00
R5715:Neb	UTSW	2	52251768	missense	probably damaging	1.00
R5716:Neb	UTSW	2	52210584	missense	probably benign
R5760:Neb	UTSW	2	52183818	missense	probably damaging	1.00
R5779:Neb	UTSW	2	52245301	missense	probably damaging	0.99
R5782:Neb	UTSW	2	52264047	nonsense	probably null
R5862:Neb	UTSW	2	52179542	nonsense	probably null
R5905:Neb	UTSW	2	52193231	missense	probably damaging	0.99
R5918:Neb	UTSW	2	52197894	missense	probably damaging	1.00
R5939:Neb	UTSW	2	52257594	missense	probably benign
R5959:Neb	UTSW	2	52156377	missense	probably benign	0.22
R5976:Neb	UTSW	2	52216916	missense	possibly damaging	0.88
R5987:Neb	UTSW	2	52295294	missense	probably benign	0.10
R6020:Neb	UTSW	2	52257827	missense	probably benign	0.05
R6028:Neb	UTSW	2	52193231	missense	probably damaging	0.99
R6045:Neb	UTSW	2	52194425	unclassified	probably null
R6062:Neb	UTSW	2	52185281	missense	probably benign	0.05
R6088:Neb	UTSW	2	52209342	missense	probably damaging	1.00
R6093:Neb	UTSW	2	52251770	nonsense	probably null
R6119:Neb	UTSW	2	52220931	missense	probably benign	0.36
R6167:Neb	UTSW	2	52147237	missense	probably benign	0.12
R6192:Neb	UTSW	2	52256790	missense	probably benign	0.00
R6216:Neb	UTSW	2	52224552	missense	probably benign	0.45
R6220:Neb	UTSW	2	52270972	missense	probably null	0.00
R6239:Neb	UTSW	2	52273988	missense	probably benign
R6242:Neb	UTSW	2	52176812	missense	probably damaging	1.00
R6254:Neb	UTSW	2	52222961	missense	probably benign	0.01
R6262:Neb	UTSW	2	52308687	missense	probably damaging	0.98
R6305:Neb	UTSW	2	52251763	nonsense	probably null
R6319:Neb	UTSW	2	52163011	critical splice acceptor site	probably null
R6333:Neb	UTSW	2	52258263	missense	probably damaging	1.00
R6341:Neb	UTSW	2	52209474	missense	probably damaging	1.00
R6362:Neb	UTSW	2	52212692	missense	probably benign	0.01
R6378:Neb	UTSW	2	52293721	missense	probably damaging	1.00
R6385:Neb	UTSW	2	52185299	missense	probably damaging	0.99
R6404:Neb	UTSW	2	52207725	missense	probably damaging	0.99
R6416:Neb	UTSW	2	52185328	missense	probably benign	0.10
R6437:Neb	UTSW	2	52257557	splice site	probably null
R6448:Neb	UTSW	2	52148814	missense	probably damaging	1.00
R6450:Neb	UTSW	2	52194469	nonsense	probably null
R6452:Neb	UTSW	2	52179483	missense	probably benign	0.00
R6455:Neb	UTSW	2	52167644	nonsense	probably null
R6474:Neb	UTSW	2	52280612	missense	probably benign	0.00
R6497:Neb	UTSW	2	52258289	missense	possibly damaging	0.53
R6502:Neb	UTSW	2	52291082	missense	probably benign	0.34
R6572:Neb	UTSW	2	52278847	missense	probably damaging	1.00
R6617:Neb	UTSW	2	52207747	missense	probably damaging	1.00
R6659:Neb	UTSW	2	52234353	missense	probably damaging	1.00
R6667:Neb	UTSW	2	52147189	missense	probably damaging	1.00
R6701:Neb	UTSW	2	52291208	missense	probably damaging	1.00
R6711:Neb	UTSW	2	52223064	missense	probably benign	0.22
R6711:Neb	UTSW	2	52256287	missense	probably damaging	1.00
R6861:Neb	UTSW	2	52195720	missense	probably damaging	1.00
R6872:Neb	UTSW	2	52293645	missense	probably damaging	0.99
R6886:Neb	UTSW	2	52220224	missense	probably damaging	1.00
R6923:Neb	UTSW	2	52186064	missense	probably damaging	0.97
R7025:Neb	UTSW	2	52296273	missense	possibly damaging	0.94
R7050:Neb	UTSW	2	52222876	missense	possibly damaging	0.67
R7091:Neb	UTSW	2	52256112	missense
R7095:Neb	UTSW	2	52177623	missense	possibly damaging	0.95
R7102:Neb	UTSW	2	52304055	missense	probably damaging	1.00
R7114:Neb	UTSW	2	52192559	missense	probably damaging	1.00
R7152:Neb	UTSW	2	52263545	missense	probably damaging	1.00
R7156:Neb	UTSW	2	52305283	critical splice donor site	probably null
R7161:Neb	UTSW	2	52271592	missense	probably damaging	1.00
R7165:Neb	UTSW	2	52270306	missense	probably damaging	1.00
R7199:Neb	UTSW	2	52220200	missense	probably benign	0.01
R7205:Neb	UTSW	2	52196356	missense	probably damaging	1.00
R7224:Neb	UTSW	2	52334659	intron	probably null
R7247:Neb	UTSW	2	52258741	missense	probably damaging	1.00
R7252:Neb	UTSW	2	52324961	critical splice donor site	probably null
R7275:Neb	UTSW	2	52206944	missense	probably benign	0.30
R7284:Neb	UTSW	2	52258792	missense	probably damaging	0.97
R7316:Neb	UTSW	2	52271438	missense	possibly damaging	0.80
R7330:Neb	UTSW	2	52189703	missense	possibly damaging	0.89
R7342:Neb	UTSW	2	52281667	missense	probably damaging	1.00
R7451:Neb	UTSW	2	52201454	missense	probably benign
R7464:Neb	UTSW	2	52193890	missense	probably benign	0.02
R7488:Neb	UTSW	2	52220221	missense	probably benign
R7498:Neb	UTSW	2	52258176	missense	probably damaging	1.00
R7513:Neb	UTSW	2	52209540	missense	possibly damaging	0.83
R7527:Neb	UTSW	2	52176623	missense	probably damaging	1.00
R7533:Neb	UTSW	2	52224566	missense
R7535:Neb	UTSW	2	52165103	intron	probably null
R7538:Neb	UTSW	2	52256575	splice site	probably null
R7547:Neb	UTSW	2	52282625	missense	probably benign	0.00
R7552:Neb	UTSW	2	52247190	missense
R7582:Neb	UTSW	2	52334492	start gained	probably benign
R7590:Neb	UTSW	2	52243842	missense	probably damaging	1.00
R7606:Neb	UTSW	2	52226444	missense
R7619:Neb	UTSW	2	52296426	missense	possibly damaging	0.53
R7629:Neb	UTSW	2	52273961	missense	possibly damaging	0.96
R7660:Neb	UTSW	2	52249439	missense
R7663:Neb	UTSW	2	52230047	missense
R7678:Neb	UTSW	2	52206702	missense	probably damaging	1.00
R7693:Neb	UTSW	2	52299569	missense	probably damaging	0.96
R7728:Neb	UTSW	2	52183299	missense	probably damaging	1.00
R7776:Neb	UTSW	2	52207701	missense	possibly damaging	0.72
R7784:Neb	UTSW	2	52235488	missense
R7808:Neb	UTSW	2	52192023	missense	probably damaging	1.00
R7814:Neb	UTSW	2	52137380	missense	probably damaging	1.00
R7830:Neb	UTSW	2	52165189	missense	probably benign	0.04
R7835:Neb	UTSW	2	52150577	missense	probably benign	0.29
R7851:Neb	UTSW	2	52153064	missense	probably benign
R7857:Neb	UTSW	2	52222984	missense	probably damaging	0.97
R7870:Neb	UTSW	2	52325749	missense	probably damaging	1.00
R7889:Neb	UTSW	2	52147669	missense	probably benign	0.00
R7912:Neb	UTSW	2	52220985	missense	possibly damaging	0.51
R7918:Neb	UTSW	2	52150577	missense	probably benign	0.29
R7934:Neb	UTSW	2	52153064	missense	probably benign
R7940:Neb	UTSW	2	52222984	missense	probably damaging	0.97
R7953:Neb	UTSW	2	52325749	missense	probably damaging	1.00
R7972:Neb	UTSW	2	52147669	missense	probably benign	0.00
R7993:Neb	UTSW	2	52220985	missense	possibly damaging	0.51
RF001:Neb	UTSW	2	52195421	missense	probably damaging	1.00
X0021:Neb	UTSW	2	52270300	missense	probably benign
X0026:Neb	UTSW	2	52243904	missense	probably benign	0.34
X0027:Neb	UTSW	2	52227314	missense	probably damaging	1.00
X0065:Neb	UTSW	2	52249304	missense	possibly damaging	0.95
Z1088:Neb	UTSW	2	52169872	missense	possibly damaging	0.68
Z1088:Neb	UTSW	2	52223152	missense	probably benign	0.00
Z1088:Neb	UTSW	2	52308567	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGAGTATCTTAAATGCTGAAAGC -3'
(R):5'- GTTTCTCCTTCACTGCAGAGAC -3'

Sequencing Primer
(F):5'- GCAATGCTATTTCTCAGTTGGAC -3'
(R):5'- TCCTTCACTGCAGAGACTATATCGAG -3'

Posted On

2014-12-04