Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Plec'

84346

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plec

Ensembl Gene

ENSMUSG00000022565

Gene Name

plectin

Synonyms

Plec1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.802) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

76170974-76232574 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76179297 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2213 (V2213A)

Ref Sequence

ENSEMBL: ENSMUSP00000126526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023226] [ENSMUST00000054449] [ENSMUST00000071869] [ENSMUST00000072692] [ENSMUST00000073418] [ENSMUST00000074834] [ENSMUST00000076442] [ENSMUST00000080857] [ENSMUST00000089610] [ENSMUST00000169108] [ENSMUST00000171562] [ENSMUST00000169438] [ENSMUST00000169714]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023226
AA Change: V2213A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023226
Gene: ENSMUSG00000022565
AA Change: V2213A

Domain	Start	End	E-Value	Type
CH	44	143	4.57e-28	SMART
CH	160	258	3.52e-20	SMART
internal_repeat_2	293	375	1.47e-5	PROSPERO
internal_repeat_2	369	451	1.47e-5	PROSPERO
SPEC	516	613	3.08e-5	SMART
SPEC	616	716	1.29e-7	SMART
SPEC	722	884	3.01e0	SMART
low complexity region	963	977	N/A	INTRINSIC
SPEC	980	1086	3.48e0	SMART
SPEC	1089	1200	7.63e-1	SMART
SPEC	1207	1367	2.59e-1	SMART
low complexity region	1371	1411	N/A	INTRINSIC
low complexity region	1438	1455	N/A	INTRINSIC
low complexity region	1468	1499	N/A	INTRINSIC
low complexity region	1510	1559	N/A	INTRINSIC
low complexity region	1601	1630	N/A	INTRINSIC
low complexity region	1655	1680	N/A	INTRINSIC
low complexity region	1718	1739	N/A	INTRINSIC
low complexity region	1766	1830	N/A	INTRINSIC
low complexity region	1846	1871	N/A	INTRINSIC
low complexity region	1932	1946	N/A	INTRINSIC
low complexity region	1960	1986	N/A	INTRINSIC
low complexity region	2016	2050	N/A	INTRINSIC
low complexity region	2056	2070	N/A	INTRINSIC
low complexity region	2077	2105	N/A	INTRINSIC
low complexity region	2114	2163	N/A	INTRINSIC
low complexity region	2180	2195	N/A	INTRINSIC
low complexity region	2283	2299	N/A	INTRINSIC
low complexity region	2322	2340	N/A	INTRINSIC
low complexity region	2391	2404	N/A	INTRINSIC
low complexity region	2442	2472	N/A	INTRINSIC
low complexity region	2525	2546	N/A	INTRINSIC
low complexity region	2550	2565	N/A	INTRINSIC
low complexity region	2567	2608	N/A	INTRINSIC
PLEC	2647	2684	2.99e1	SMART
PLEC	2685	2722	4.49e-7	SMART
PLEC	2723	2760	4.49e-7	SMART
PLEC	2761	2798	3.54e-5	SMART
PLEC	2799	2836	3.27e-9	SMART
PLEC	2840	2874	6.31e-2	SMART
low complexity region	2945	2963	N/A	INTRINSIC
PLEC	2975	3012	3.84e0	SMART
PLEC	3013	3050	1.59e-7	SMART
PLEC	3051	3088	3.54e-5	SMART
PLEC	3089	3126	8.64e-9	SMART
PLEC	3127	3164	1.53e-9	SMART
PLEC	3167	3202	2.18e2	SMART
low complexity region	3274	3293	N/A	INTRINSIC
PLEC	3344	3381	3.22e-8	SMART
PLEC	3382	3419	7.82e-7	SMART
PLEC	3420	3457	1.9e-5	SMART
PLEC	3458	3495	7.01e-9	SMART
PLEC	3499	3533	3.38e-2	SMART
low complexity region	3545	3566	N/A	INTRINSIC
low complexity region	3572	3582	N/A	INTRINSIC
low complexity region	3615	3628	N/A	INTRINSIC
PLEC	3679	3716	1.22e-8	SMART
PLEC	3717	3754	1.26e-10	SMART
PLEC	3755	3792	2.24e-7	SMART
PLEC	3793	3830	1.82e-7	SMART
PLEC	3834	3867	5.49e1	SMART
PLEC	3871	3904	3.2e2	SMART
PLEC	3922	3959	8.77e-10	SMART
PLEC	3960	3997	4.13e-6	SMART
PLEC	3998	4035	3.03e-4	SMART
PLEC	4036	4073	4.77e-11	SMART
PLEC	4077	4111	1.28e-2	SMART
PLEC	4124	4164	1.05e-7	SMART
low complexity region	4166	4176	N/A	INTRINSIC
PLEC	4178	4215	1.73e1	SMART
low complexity region	4241	4256	N/A	INTRINSIC
PLEC	4267	4304	3.65e-7	SMART
PLEC	4305	4342	9.99e-14	SMART
PLEC	4343	4380	4.71e-1	SMART
PLEC	4381	4418	2.44e-8	SMART
PLEC	4419	4456	2.87e-5	SMART
low complexity region	4466	4501	N/A	INTRINSIC
low complexity region	4504	4530	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054449
AA Change: V2218A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057158
Gene: ENSMUSG00000022565
AA Change: V2218A

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
CH	44	148	9.8e-28	SMART
CH	165	263	3.52e-20	SMART
internal_repeat_2	298	380	1.4e-5	PROSPERO
internal_repeat_2	374	456	1.4e-5	PROSPERO
SPEC	521	618	3.08e-5	SMART
SPEC	621	721	1.29e-7	SMART
SPEC	727	889	3.01e0	SMART
low complexity region	968	982	N/A	INTRINSIC
SPEC	985	1091	3.48e0	SMART
SPEC	1094	1205	7.63e-1	SMART
SPEC	1212	1372	2.59e-1	SMART
low complexity region	1376	1416	N/A	INTRINSIC
low complexity region	1443	1460	N/A	INTRINSIC
low complexity region	1473	1504	N/A	INTRINSIC
low complexity region	1515	1564	N/A	INTRINSIC
low complexity region	1606	1635	N/A	INTRINSIC
low complexity region	1660	1685	N/A	INTRINSIC
low complexity region	1723	1744	N/A	INTRINSIC
low complexity region	1771	1835	N/A	INTRINSIC
low complexity region	1851	1876	N/A	INTRINSIC
low complexity region	1937	1951	N/A	INTRINSIC
low complexity region	1965	1991	N/A	INTRINSIC
low complexity region	2021	2055	N/A	INTRINSIC
low complexity region	2061	2075	N/A	INTRINSIC
low complexity region	2082	2110	N/A	INTRINSIC
low complexity region	2119	2168	N/A	INTRINSIC
low complexity region	2185	2200	N/A	INTRINSIC
low complexity region	2288	2304	N/A	INTRINSIC
low complexity region	2327	2345	N/A	INTRINSIC
low complexity region	2396	2409	N/A	INTRINSIC
low complexity region	2447	2477	N/A	INTRINSIC
low complexity region	2530	2551	N/A	INTRINSIC
low complexity region	2555	2570	N/A	INTRINSIC
low complexity region	2572	2613	N/A	INTRINSIC
PLEC	2652	2689	2.99e1	SMART
PLEC	2690	2727	4.49e-7	SMART
PLEC	2728	2765	4.49e-7	SMART
PLEC	2766	2803	3.54e-5	SMART
PLEC	2804	2841	3.27e-9	SMART
PLEC	2845	2879	6.31e-2	SMART
low complexity region	2950	2968	N/A	INTRINSIC
PLEC	2980	3017	3.84e0	SMART
PLEC	3018	3055	1.59e-7	SMART
PLEC	3056	3093	3.54e-5	SMART
PLEC	3094	3131	8.64e-9	SMART
PLEC	3132	3169	1.53e-9	SMART
PLEC	3172	3207	2.18e2	SMART
low complexity region	3279	3298	N/A	INTRINSIC
PLEC	3349	3386	3.22e-8	SMART
PLEC	3387	3424	7.82e-7	SMART
PLEC	3425	3462	1.9e-5	SMART
PLEC	3463	3500	7.01e-9	SMART
PLEC	3504	3538	3.38e-2	SMART
low complexity region	3550	3571	N/A	INTRINSIC
low complexity region	3577	3587	N/A	INTRINSIC
low complexity region	3620	3633	N/A	INTRINSIC
PLEC	3684	3721	1.22e-8	SMART
PLEC	3722	3759	1.26e-10	SMART
PLEC	3760	3797	2.24e-7	SMART
PLEC	3798	3835	1.82e-7	SMART
PLEC	3839	3872	5.49e1	SMART
PLEC	3876	3909	3.2e2	SMART
PLEC	3927	3964	8.77e-10	SMART
PLEC	3965	4002	4.13e-6	SMART
PLEC	4003	4040	3.03e-4	SMART
PLEC	4041	4078	4.77e-11	SMART
PLEC	4082	4116	1.28e-2	SMART
PLEC	4129	4169	1.05e-7	SMART
low complexity region	4171	4181	N/A	INTRINSIC
PLEC	4183	4220	1.73e1	SMART
low complexity region	4246	4261	N/A	INTRINSIC
PLEC	4272	4309	3.65e-7	SMART
PLEC	4310	4347	9.99e-14	SMART
PLEC	4348	4385	4.71e-1	SMART
PLEC	4386	4423	2.44e-8	SMART
PLEC	4424	4461	2.87e-5	SMART
low complexity region	4471	4506	N/A	INTRINSIC
low complexity region	4509	4535	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071869
AA Change: V2191A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071765
Gene: ENSMUSG00000022565
AA Change: V2191A

Domain	Start	End	E-Value	Type
CH	22	121	4.57e-28	SMART
CH	138	236	3.52e-20	SMART
internal_repeat_2	271	353	1.13e-5	PROSPERO
internal_repeat_2	347	429	1.13e-5	PROSPERO
SPEC	494	591	3.08e-5	SMART
SPEC	594	694	1.29e-7	SMART
SPEC	700	862	3.01e0	SMART
low complexity region	941	955	N/A	INTRINSIC
SPEC	958	1064	3.48e0	SMART
SPEC	1067	1178	7.63e-1	SMART
SPEC	1185	1345	2.59e-1	SMART
low complexity region	1349	1389	N/A	INTRINSIC
low complexity region	1416	1433	N/A	INTRINSIC
low complexity region	1446	1477	N/A	INTRINSIC
low complexity region	1488	1537	N/A	INTRINSIC
low complexity region	1579	1608	N/A	INTRINSIC
low complexity region	1633	1658	N/A	INTRINSIC
low complexity region	1696	1717	N/A	INTRINSIC
low complexity region	1744	1808	N/A	INTRINSIC
low complexity region	1824	1849	N/A	INTRINSIC
low complexity region	1910	1924	N/A	INTRINSIC
low complexity region	1938	1964	N/A	INTRINSIC
low complexity region	1994	2028	N/A	INTRINSIC
low complexity region	2034	2048	N/A	INTRINSIC
low complexity region	2055	2083	N/A	INTRINSIC
low complexity region	2092	2141	N/A	INTRINSIC
low complexity region	2158	2173	N/A	INTRINSIC
low complexity region	2261	2277	N/A	INTRINSIC
low complexity region	2300	2318	N/A	INTRINSIC
low complexity region	2369	2382	N/A	INTRINSIC
low complexity region	2420	2450	N/A	INTRINSIC
low complexity region	2503	2524	N/A	INTRINSIC
low complexity region	2528	2543	N/A	INTRINSIC
low complexity region	2545	2586	N/A	INTRINSIC
PLEC	2625	2662	2.99e1	SMART
PLEC	2663	2700	4.49e-7	SMART
PLEC	2701	2738	4.49e-7	SMART
PLEC	2739	2776	3.54e-5	SMART
PLEC	2777	2814	3.27e-9	SMART
PLEC	2818	2852	6.31e-2	SMART
low complexity region	2923	2941	N/A	INTRINSIC
PLEC	2953	2990	3.84e0	SMART
PLEC	2991	3028	1.59e-7	SMART
PLEC	3029	3066	3.54e-5	SMART
PLEC	3067	3104	8.64e-9	SMART
PLEC	3105	3142	1.53e-9	SMART
PLEC	3145	3180	2.18e2	SMART
low complexity region	3252	3271	N/A	INTRINSIC
PLEC	3322	3359	3.22e-8	SMART
PLEC	3360	3397	7.82e-7	SMART
PLEC	3398	3435	1.9e-5	SMART
PLEC	3436	3473	7.01e-9	SMART
PLEC	3477	3511	3.38e-2	SMART
low complexity region	3523	3544	N/A	INTRINSIC
low complexity region	3550	3560	N/A	INTRINSIC
low complexity region	3593	3606	N/A	INTRINSIC
PLEC	3657	3694	1.22e-8	SMART
PLEC	3695	3732	1.26e-10	SMART
PLEC	3733	3770	2.24e-7	SMART
PLEC	3771	3808	1.82e-7	SMART
PLEC	3812	3845	5.49e1	SMART
PLEC	3849	3882	3.2e2	SMART
PLEC	3900	3937	8.77e-10	SMART
PLEC	3938	3975	4.13e-6	SMART
PLEC	3976	4013	3.03e-4	SMART
PLEC	4014	4051	4.77e-11	SMART
PLEC	4055	4089	1.28e-2	SMART
PLEC	4102	4142	1.05e-7	SMART
low complexity region	4144	4154	N/A	INTRINSIC
PLEC	4156	4193	1.73e1	SMART
low complexity region	4219	4234	N/A	INTRINSIC
PLEC	4245	4282	3.65e-7	SMART
PLEC	4283	4320	9.99e-14	SMART
PLEC	4321	4358	4.71e-1	SMART
PLEC	4359	4396	2.44e-8	SMART
PLEC	4397	4434	2.87e-5	SMART
low complexity region	4444	4479	N/A	INTRINSIC
low complexity region	4482	4508	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072692
AA Change: V2220A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072478
Gene: ENSMUSG00000022565
AA Change: V2220A

Domain	Start	End	E-Value	Type
CH	51	150	4.57e-28	SMART
CH	167	265	3.52e-20	SMART
internal_repeat_2	300	382	1.54e-5	PROSPERO
internal_repeat_2	376	458	1.54e-5	PROSPERO
SPEC	523	620	3.08e-5	SMART
SPEC	623	723	1.29e-7	SMART
SPEC	729	891	3.01e0	SMART
low complexity region	970	984	N/A	INTRINSIC
SPEC	987	1093	3.48e0	SMART
SPEC	1096	1207	7.63e-1	SMART
SPEC	1214	1374	2.59e-1	SMART
low complexity region	1378	1418	N/A	INTRINSIC
low complexity region	1445	1462	N/A	INTRINSIC
low complexity region	1475	1506	N/A	INTRINSIC
low complexity region	1517	1566	N/A	INTRINSIC
low complexity region	1608	1637	N/A	INTRINSIC
low complexity region	1662	1687	N/A	INTRINSIC
low complexity region	1725	1746	N/A	INTRINSIC
low complexity region	1773	1837	N/A	INTRINSIC
low complexity region	1853	1878	N/A	INTRINSIC
low complexity region	1939	1953	N/A	INTRINSIC
low complexity region	1967	1993	N/A	INTRINSIC
low complexity region	2023	2057	N/A	INTRINSIC
low complexity region	2063	2077	N/A	INTRINSIC
low complexity region	2084	2112	N/A	INTRINSIC
low complexity region	2121	2170	N/A	INTRINSIC
low complexity region	2187	2202	N/A	INTRINSIC
low complexity region	2290	2306	N/A	INTRINSIC
low complexity region	2329	2347	N/A	INTRINSIC
low complexity region	2398	2411	N/A	INTRINSIC
low complexity region	2449	2479	N/A	INTRINSIC
low complexity region	2532	2553	N/A	INTRINSIC
low complexity region	2557	2572	N/A	INTRINSIC
low complexity region	2574	2615	N/A	INTRINSIC
PLEC	2654	2691	2.99e1	SMART
PLEC	2692	2729	4.49e-7	SMART
PLEC	2730	2767	4.49e-7	SMART
PLEC	2768	2805	3.54e-5	SMART
PLEC	2806	2843	3.27e-9	SMART
PLEC	2847	2881	6.31e-2	SMART
low complexity region	2952	2970	N/A	INTRINSIC
PLEC	2982	3019	3.84e0	SMART
PLEC	3020	3057	1.59e-7	SMART
PLEC	3058	3095	3.54e-5	SMART
PLEC	3096	3133	8.64e-9	SMART
PLEC	3134	3171	1.53e-9	SMART
PLEC	3174	3209	2.18e2	SMART
low complexity region	3281	3300	N/A	INTRINSIC
PLEC	3351	3388	3.22e-8	SMART
PLEC	3389	3426	7.82e-7	SMART
PLEC	3427	3464	1.9e-5	SMART
PLEC	3465	3502	7.01e-9	SMART
PLEC	3506	3540	3.38e-2	SMART
low complexity region	3552	3573	N/A	INTRINSIC
low complexity region	3579	3589	N/A	INTRINSIC
low complexity region	3622	3635	N/A	INTRINSIC
PLEC	3686	3723	1.22e-8	SMART
PLEC	3724	3761	1.26e-10	SMART
PLEC	3762	3799	2.24e-7	SMART
PLEC	3800	3837	1.82e-7	SMART
PLEC	3841	3874	5.49e1	SMART
PLEC	3878	3911	3.2e2	SMART
PLEC	3929	3966	8.77e-10	SMART
PLEC	3967	4004	4.13e-6	SMART
PLEC	4005	4042	3.03e-4	SMART
PLEC	4043	4080	4.77e-11	SMART
PLEC	4084	4118	1.28e-2	SMART
PLEC	4131	4171	1.05e-7	SMART
low complexity region	4173	4183	N/A	INTRINSIC
PLEC	4185	4222	1.73e1	SMART
low complexity region	4248	4263	N/A	INTRINSIC
PLEC	4274	4311	3.65e-7	SMART
PLEC	4312	4349	9.99e-14	SMART
PLEC	4350	4387	4.71e-1	SMART
PLEC	4388	4425	2.44e-8	SMART
PLEC	4426	4463	2.87e-5	SMART
low complexity region	4473	4508	N/A	INTRINSIC
low complexity region	4511	4537	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073418
AA Change: V2361A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073124
Gene: ENSMUSG00000022565
AA Change: V2361A

Domain	Start	End	E-Value	Type
Pfam:S10_plectin	7	101	6.3e-34	PFAM
CH	187	291	5e-30	SMART
CH	308	406	1.8e-22	SMART
internal_repeat_2	441	523	2.49e-5	PROSPERO
internal_repeat_2	517	599	2.49e-5	PROSPERO
SPEC	664	761	1.9e-7	SMART
SPEC	764	864	8.4e-10	SMART
SPEC	870	1032	1.9e-2	SMART
low complexity region	1111	1125	N/A	INTRINSIC
SPEC	1128	1234	2.3e-2	SMART
SPEC	1237	1348	4.9e-3	SMART
SPEC	1355	1515	1.7e-3	SMART
low complexity region	1519	1559	N/A	INTRINSIC
low complexity region	1586	1603	N/A	INTRINSIC
low complexity region	1616	1647	N/A	INTRINSIC
low complexity region	1658	1707	N/A	INTRINSIC
low complexity region	1749	1778	N/A	INTRINSIC
low complexity region	1803	1828	N/A	INTRINSIC
low complexity region	1866	1887	N/A	INTRINSIC
low complexity region	1914	1978	N/A	INTRINSIC
low complexity region	1994	2019	N/A	INTRINSIC
low complexity region	2080	2094	N/A	INTRINSIC
low complexity region	2108	2134	N/A	INTRINSIC
low complexity region	2164	2198	N/A	INTRINSIC
low complexity region	2204	2218	N/A	INTRINSIC
low complexity region	2225	2253	N/A	INTRINSIC
low complexity region	2262	2311	N/A	INTRINSIC
low complexity region	2328	2343	N/A	INTRINSIC
low complexity region	2431	2447	N/A	INTRINSIC
low complexity region	2470	2488	N/A	INTRINSIC
low complexity region	2539	2552	N/A	INTRINSIC
low complexity region	2590	2620	N/A	INTRINSIC
low complexity region	2673	2694	N/A	INTRINSIC
low complexity region	2698	2713	N/A	INTRINSIC
low complexity region	2715	2756	N/A	INTRINSIC
PLEC	2795	2832	1.9e-1	SMART
PLEC	2833	2870	2.8e-9	SMART
PLEC	2871	2908	2.8e-9	SMART
PLEC	2909	2946	2.3e-7	SMART
PLEC	2947	2984	2e-11	SMART
PLEC	2988	3022	4e-4	SMART
low complexity region	3093	3111	N/A	INTRINSIC
PLEC	3123	3160	2.5e-2	SMART
PLEC	3161	3198	1.1e-9	SMART
PLEC	3199	3236	2.2e-7	SMART
PLEC	3237	3274	5.7e-11	SMART
PLEC	3275	3312	1e-11	SMART
PLEC	3315	3350	1.4e0	SMART
low complexity region	3422	3441	N/A	INTRINSIC
PLEC	3492	3529	2.1e-10	SMART
PLEC	3530	3567	5.1e-9	SMART
PLEC	3568	3605	1.2e-7	SMART
PLEC	3606	3643	4.6e-11	SMART
PLEC	3647	3681	2.2e-4	SMART
low complexity region	3693	3714	N/A	INTRINSIC
low complexity region	3720	3730	N/A	INTRINSIC
low complexity region	3763	3776	N/A	INTRINSIC
PLEC	3827	3864	8.1e-11	SMART
PLEC	3865	3902	7.9e-13	SMART
PLEC	3903	3940	1.5e-9	SMART
PLEC	3941	3978	1.2e-9	SMART
PLEC	3982	4015	3.6e-1	SMART
PLEC	4019	4052	2e0	SMART
PLEC	4070	4107	5.7e-12	SMART
PLEC	4108	4145	2.7e-8	SMART
PLEC	4146	4183	1.9e-6	SMART
PLEC	4184	4221	3e-13	SMART
PLEC	4225	4259	8.1e-5	SMART
PLEC	4272	4312	6.5e-10	SMART
low complexity region	4314	4324	N/A	INTRINSIC
PLEC	4326	4363	1.1e-1	SMART
low complexity region	4389	4404	N/A	INTRINSIC
PLEC	4415	4452	2.3e-9	SMART
PLEC	4453	4490	6.4e-16	SMART
PLEC	4491	4528	3.1e-3	SMART
PLEC	4529	4566	1.5e-10	SMART
PLEC	4567	4604	1.8e-7	SMART
low complexity region	4614	4649	N/A	INTRINSIC
low complexity region	4652	4678	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074834
AA Change: V2204A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074383
Gene: ENSMUSG00000022565
AA Change: V2204A

Domain	Start	End	E-Value	Type
CH	35	134	4.57e-28	SMART
CH	151	249	3.52e-20	SMART
internal_repeat_2	284	366	1.19e-5	PROSPERO
internal_repeat_2	360	442	1.19e-5	PROSPERO
SPEC	507	604	3.08e-5	SMART
SPEC	607	707	1.29e-7	SMART
SPEC	713	875	3.01e0	SMART
low complexity region	954	968	N/A	INTRINSIC
SPEC	971	1077	3.48e0	SMART
SPEC	1080	1191	7.63e-1	SMART
SPEC	1198	1358	2.59e-1	SMART
low complexity region	1362	1402	N/A	INTRINSIC
low complexity region	1429	1446	N/A	INTRINSIC
low complexity region	1459	1490	N/A	INTRINSIC
low complexity region	1501	1550	N/A	INTRINSIC
low complexity region	1592	1621	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
low complexity region	1709	1730	N/A	INTRINSIC
low complexity region	1757	1821	N/A	INTRINSIC
low complexity region	1837	1862	N/A	INTRINSIC
low complexity region	1923	1937	N/A	INTRINSIC
low complexity region	1951	1977	N/A	INTRINSIC
low complexity region	2007	2041	N/A	INTRINSIC
low complexity region	2047	2061	N/A	INTRINSIC
low complexity region	2068	2096	N/A	INTRINSIC
low complexity region	2105	2154	N/A	INTRINSIC
low complexity region	2171	2186	N/A	INTRINSIC
low complexity region	2274	2290	N/A	INTRINSIC
low complexity region	2313	2331	N/A	INTRINSIC
low complexity region	2382	2395	N/A	INTRINSIC
low complexity region	2433	2463	N/A	INTRINSIC
low complexity region	2516	2537	N/A	INTRINSIC
low complexity region	2541	2556	N/A	INTRINSIC
low complexity region	2558	2599	N/A	INTRINSIC
PLEC	2638	2675	2.99e1	SMART
PLEC	2676	2713	4.49e-7	SMART
PLEC	2714	2751	4.49e-7	SMART
PLEC	2752	2789	3.54e-5	SMART
PLEC	2790	2827	3.27e-9	SMART
PLEC	2831	2865	6.31e-2	SMART
low complexity region	2936	2954	N/A	INTRINSIC
PLEC	2966	3003	3.84e0	SMART
PLEC	3004	3041	1.59e-7	SMART
PLEC	3042	3079	3.54e-5	SMART
PLEC	3080	3117	8.64e-9	SMART
PLEC	3118	3155	1.53e-9	SMART
PLEC	3158	3193	2.18e2	SMART
low complexity region	3265	3284	N/A	INTRINSIC
PLEC	3335	3372	3.22e-8	SMART
PLEC	3373	3410	7.82e-7	SMART
PLEC	3411	3448	1.9e-5	SMART
PLEC	3449	3486	7.01e-9	SMART
PLEC	3490	3524	3.38e-2	SMART
low complexity region	3536	3557	N/A	INTRINSIC
low complexity region	3563	3573	N/A	INTRINSIC
low complexity region	3606	3619	N/A	INTRINSIC
PLEC	3670	3707	1.22e-8	SMART
PLEC	3708	3745	1.26e-10	SMART
PLEC	3746	3783	2.24e-7	SMART
PLEC	3784	3821	1.82e-7	SMART
PLEC	3825	3858	5.49e1	SMART
PLEC	3862	3895	3.2e2	SMART
PLEC	3913	3950	8.77e-10	SMART
PLEC	3951	3988	4.13e-6	SMART
PLEC	3989	4026	3.03e-4	SMART
PLEC	4027	4064	4.77e-11	SMART
PLEC	4068	4102	1.28e-2	SMART
PLEC	4115	4155	1.05e-7	SMART
low complexity region	4157	4167	N/A	INTRINSIC
PLEC	4169	4206	1.73e1	SMART
low complexity region	4232	4247	N/A	INTRINSIC
PLEC	4258	4295	3.65e-7	SMART
PLEC	4296	4333	9.99e-14	SMART
PLEC	4334	4371	4.71e-1	SMART
PLEC	4372	4409	2.44e-8	SMART
PLEC	4410	4447	2.87e-5	SMART
low complexity region	4457	4492	N/A	INTRINSIC
low complexity region	4495	4521	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076442
AA Change: V2356A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075772
Gene: ENSMUSG00000022565
AA Change: V2356A

Domain	Start	End	E-Value	Type
Pfam:S10_plectin	7	104	2.3e-37	PFAM
CH	187	286	4.57e-28	SMART
CH	303	401	3.52e-20	SMART
internal_repeat_2	436	518	2.42e-5	PROSPERO
internal_repeat_2	512	594	2.42e-5	PROSPERO
SPEC	659	756	3.08e-5	SMART
SPEC	759	859	1.29e-7	SMART
SPEC	865	1027	3.01e0	SMART
low complexity region	1106	1120	N/A	INTRINSIC
SPEC	1123	1229	3.48e0	SMART
SPEC	1232	1343	7.63e-1	SMART
SPEC	1350	1510	2.59e-1	SMART
low complexity region	1514	1554	N/A	INTRINSIC
low complexity region	1581	1598	N/A	INTRINSIC
low complexity region	1611	1642	N/A	INTRINSIC
low complexity region	1653	1702	N/A	INTRINSIC
low complexity region	1744	1773	N/A	INTRINSIC
low complexity region	1798	1823	N/A	INTRINSIC
low complexity region	1861	1882	N/A	INTRINSIC
low complexity region	1909	1973	N/A	INTRINSIC
low complexity region	1989	2014	N/A	INTRINSIC
low complexity region	2075	2089	N/A	INTRINSIC
low complexity region	2103	2129	N/A	INTRINSIC
low complexity region	2159	2193	N/A	INTRINSIC
low complexity region	2199	2213	N/A	INTRINSIC
low complexity region	2220	2248	N/A	INTRINSIC
low complexity region	2257	2306	N/A	INTRINSIC
low complexity region	2323	2338	N/A	INTRINSIC
low complexity region	2426	2442	N/A	INTRINSIC
low complexity region	2465	2483	N/A	INTRINSIC
low complexity region	2534	2547	N/A	INTRINSIC
low complexity region	2585	2615	N/A	INTRINSIC
low complexity region	2668	2689	N/A	INTRINSIC
low complexity region	2693	2708	N/A	INTRINSIC
low complexity region	2710	2751	N/A	INTRINSIC
PLEC	2790	2827	2.99e1	SMART
PLEC	2828	2865	4.49e-7	SMART
PLEC	2866	2903	4.49e-7	SMART
PLEC	2904	2941	3.54e-5	SMART
PLEC	2942	2979	3.27e-9	SMART
PLEC	2983	3017	6.31e-2	SMART
low complexity region	3088	3106	N/A	INTRINSIC
PLEC	3118	3155	3.84e0	SMART
PLEC	3156	3193	1.59e-7	SMART
PLEC	3194	3231	3.54e-5	SMART
PLEC	3232	3269	8.64e-9	SMART
PLEC	3270	3307	1.53e-9	SMART
PLEC	3310	3345	2.18e2	SMART
low complexity region	3417	3436	N/A	INTRINSIC
PLEC	3487	3524	3.22e-8	SMART
PLEC	3525	3562	7.82e-7	SMART
PLEC	3563	3600	1.9e-5	SMART
PLEC	3601	3638	7.01e-9	SMART
PLEC	3642	3676	3.38e-2	SMART
low complexity region	3688	3709	N/A	INTRINSIC
low complexity region	3715	3725	N/A	INTRINSIC
low complexity region	3758	3771	N/A	INTRINSIC
PLEC	3822	3859	1.22e-8	SMART
PLEC	3860	3897	1.26e-10	SMART
PLEC	3898	3935	2.24e-7	SMART
PLEC	3936	3973	1.82e-7	SMART
PLEC	3977	4010	5.49e1	SMART
PLEC	4014	4047	3.2e2	SMART
PLEC	4065	4102	8.77e-10	SMART
PLEC	4103	4140	4.13e-6	SMART
PLEC	4141	4178	3.03e-4	SMART
PLEC	4179	4216	4.77e-11	SMART
PLEC	4220	4254	1.28e-2	SMART
PLEC	4267	4307	1.05e-7	SMART
low complexity region	4309	4319	N/A	INTRINSIC
PLEC	4321	4358	1.73e1	SMART
low complexity region	4384	4399	N/A	INTRINSIC
PLEC	4410	4447	3.65e-7	SMART
PLEC	4448	4485	9.99e-14	SMART
PLEC	4486	4523	4.71e-1	SMART
PLEC	4524	4561	2.44e-8	SMART
PLEC	4562	4599	2.87e-5	SMART
low complexity region	4609	4644	N/A	INTRINSIC
low complexity region	4647	4673	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080857
AA Change: V2056A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079668
Gene: ENSMUSG00000022565
AA Change: V2056A

Domain	Start	End	E-Value	Type
CH	3	101	3.52e-20	SMART
internal_repeat_2	136	218	8.51e-6	PROSPERO
internal_repeat_2	212	294	8.51e-6	PROSPERO
SPEC	359	456	3.08e-5	SMART
SPEC	459	559	1.29e-7	SMART
SPEC	565	727	3.01e0	SMART
low complexity region	806	820	N/A	INTRINSIC
SPEC	823	929	3.48e0	SMART
SPEC	932	1043	7.63e-1	SMART
SPEC	1050	1210	2.59e-1	SMART
low complexity region	1214	1254	N/A	INTRINSIC
low complexity region	1281	1298	N/A	INTRINSIC
low complexity region	1311	1342	N/A	INTRINSIC
low complexity region	1353	1402	N/A	INTRINSIC
low complexity region	1444	1473	N/A	INTRINSIC
low complexity region	1498	1523	N/A	INTRINSIC
low complexity region	1561	1582	N/A	INTRINSIC
low complexity region	1609	1673	N/A	INTRINSIC
low complexity region	1689	1714	N/A	INTRINSIC
low complexity region	1775	1789	N/A	INTRINSIC
low complexity region	1803	1829	N/A	INTRINSIC
low complexity region	1859	1893	N/A	INTRINSIC
low complexity region	1899	1913	N/A	INTRINSIC
low complexity region	1920	1948	N/A	INTRINSIC
low complexity region	1957	2006	N/A	INTRINSIC
low complexity region	2023	2038	N/A	INTRINSIC
low complexity region	2126	2142	N/A	INTRINSIC
low complexity region	2165	2183	N/A	INTRINSIC
low complexity region	2234	2247	N/A	INTRINSIC
low complexity region	2285	2315	N/A	INTRINSIC
low complexity region	2368	2389	N/A	INTRINSIC
low complexity region	2393	2408	N/A	INTRINSIC
low complexity region	2410	2451	N/A	INTRINSIC
PLEC	2490	2527	2.99e1	SMART
PLEC	2528	2565	4.49e-7	SMART
PLEC	2566	2603	4.49e-7	SMART
PLEC	2604	2641	3.54e-5	SMART
PLEC	2642	2679	3.27e-9	SMART
PLEC	2683	2717	6.31e-2	SMART
low complexity region	2788	2806	N/A	INTRINSIC
PLEC	2818	2855	3.84e0	SMART
PLEC	2856	2893	1.59e-7	SMART
PLEC	2894	2931	3.54e-5	SMART
PLEC	2932	2969	8.64e-9	SMART
PLEC	2970	3007	1.53e-9	SMART
PLEC	3010	3045	2.18e2	SMART
low complexity region	3117	3136	N/A	INTRINSIC
PLEC	3187	3224	3.22e-8	SMART
PLEC	3225	3262	7.82e-7	SMART
PLEC	3263	3300	1.9e-5	SMART
PLEC	3301	3338	7.01e-9	SMART
PLEC	3342	3376	3.38e-2	SMART
low complexity region	3388	3409	N/A	INTRINSIC
low complexity region	3415	3425	N/A	INTRINSIC
low complexity region	3458	3471	N/A	INTRINSIC
PLEC	3522	3559	1.22e-8	SMART
PLEC	3560	3597	1.26e-10	SMART
PLEC	3598	3635	2.24e-7	SMART
PLEC	3636	3673	1.82e-7	SMART
PLEC	3677	3710	5.49e1	SMART
PLEC	3714	3747	3.2e2	SMART
PLEC	3765	3802	8.77e-10	SMART
PLEC	3803	3840	4.13e-6	SMART
PLEC	3841	3878	3.03e-4	SMART
PLEC	3879	3916	4.77e-11	SMART
PLEC	3920	3954	1.28e-2	SMART
PLEC	3967	4007	1.05e-7	SMART
low complexity region	4009	4019	N/A	INTRINSIC
PLEC	4021	4058	1.73e1	SMART
low complexity region	4084	4099	N/A	INTRINSIC
PLEC	4110	4147	3.65e-7	SMART
PLEC	4148	4185	9.99e-14	SMART
PLEC	4186	4223	4.71e-1	SMART
PLEC	4224	4261	2.44e-8	SMART
PLEC	4262	4299	2.87e-5	SMART
low complexity region	4309	4344	N/A	INTRINSIC
low complexity region	4347	4373	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000089610
AA Change: V2259A

SMART Domains

Protein: ENSMUSP00000087037
Gene: ENSMUSG00000022565
AA Change: V2259A

Domain	Start	End	E-Value	Type
low complexity region	16	28	N/A	INTRINSIC
low complexity region	40	54	N/A	INTRINSIC
CH	73	189	1.46e-26	SMART
CH	206	304	3.52e-20	SMART
internal_repeat_2	339	421	1.38e-5	PROSPERO
internal_repeat_2	415	497	1.38e-5	PROSPERO
SPEC	562	659	3.08e-5	SMART
SPEC	662	762	1.29e-7	SMART
SPEC	768	930	3.01e0	SMART
low complexity region	1009	1023	N/A	INTRINSIC
SPEC	1026	1132	3.48e0	SMART
SPEC	1135	1246	7.63e-1	SMART
SPEC	1253	1413	2.59e-1	SMART
low complexity region	1417	1457	N/A	INTRINSIC
low complexity region	1484	1501	N/A	INTRINSIC
low complexity region	1514	1545	N/A	INTRINSIC
low complexity region	1556	1605	N/A	INTRINSIC
low complexity region	1647	1676	N/A	INTRINSIC
low complexity region	1701	1726	N/A	INTRINSIC
low complexity region	1764	1785	N/A	INTRINSIC
low complexity region	1812	1876	N/A	INTRINSIC
low complexity region	1892	1917	N/A	INTRINSIC
low complexity region	1978	1992	N/A	INTRINSIC
low complexity region	2006	2032	N/A	INTRINSIC
low complexity region	2062	2096	N/A	INTRINSIC
low complexity region	2102	2116	N/A	INTRINSIC
low complexity region	2123	2151	N/A	INTRINSIC
low complexity region	2160	2209	N/A	INTRINSIC
low complexity region	2226	2241	N/A	INTRINSIC
low complexity region	2329	2345	N/A	INTRINSIC
low complexity region	2368	2386	N/A	INTRINSIC
low complexity region	2437	2450	N/A	INTRINSIC
low complexity region	2488	2518	N/A	INTRINSIC
low complexity region	2571	2592	N/A	INTRINSIC
low complexity region	2596	2611	N/A	INTRINSIC
low complexity region	2613	2654	N/A	INTRINSIC
PLEC	2693	2730	2.99e1	SMART
PLEC	2731	2768	4.49e-7	SMART
PLEC	2769	2806	4.49e-7	SMART
PLEC	2807	2844	3.54e-5	SMART
PLEC	2845	2882	3.27e-9	SMART
PLEC	2886	2920	6.31e-2	SMART
low complexity region	2991	3009	N/A	INTRINSIC
PLEC	3021	3058	3.84e0	SMART
PLEC	3059	3096	1.59e-7	SMART
PLEC	3097	3134	3.54e-5	SMART
PLEC	3135	3172	8.64e-9	SMART
PLEC	3173	3210	1.53e-9	SMART
PLEC	3213	3248	2.18e2	SMART
low complexity region	3320	3339	N/A	INTRINSIC
PLEC	3390	3427	3.22e-8	SMART
PLEC	3428	3465	7.82e-7	SMART
PLEC	3466	3503	1.9e-5	SMART
PLEC	3504	3541	7.01e-9	SMART
PLEC	3545	3579	3.38e-2	SMART
low complexity region	3591	3612	N/A	INTRINSIC
low complexity region	3618	3628	N/A	INTRINSIC
low complexity region	3661	3674	N/A	INTRINSIC
PLEC	3725	3762	1.22e-8	SMART
PLEC	3763	3800	1.26e-10	SMART
PLEC	3801	3838	2.24e-7	SMART
PLEC	3839	3876	1.82e-7	SMART
PLEC	3880	3913	5.49e1	SMART
PLEC	3917	3950	3.2e2	SMART
PLEC	3968	4005	8.77e-10	SMART
PLEC	4006	4043	4.13e-6	SMART
PLEC	4044	4081	3.03e-4	SMART
PLEC	4082	4119	4.77e-11	SMART
PLEC	4123	4157	1.28e-2	SMART
PLEC	4170	4210	1.05e-7	SMART
low complexity region	4212	4222	N/A	INTRINSIC
PLEC	4224	4261	1.73e1	SMART
low complexity region	4287	4302	N/A	INTRINSIC
PLEC	4313	4350	3.65e-7	SMART
PLEC	4351	4388	9.99e-14	SMART
PLEC	4389	4426	4.71e-1	SMART
PLEC	4427	4464	2.44e-8	SMART
PLEC	4465	4502	2.87e-5	SMART
low complexity region	4512	4547	N/A	INTRINSIC
low complexity region	4550	4576	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165210

SMART Domains

Protein: ENSMUSP00000130048
Gene: ENSMUSG00000022565

Domain	Start	End	E-Value	Type
SPEC	21	183	3.01e0	SMART
low complexity region	262	276	N/A	INTRINSIC
SPEC	279	385	1.83e0	SMART
SPEC	388	499	7.63e-1	SMART
SPEC	506	634	8.96e-2	SMART
low complexity region	640	652	N/A	INTRINSIC
coiled coil region	670	784	N/A	INTRINSIC
PLEC	819	856	2.99e1	SMART
PLEC	857	894	4.49e-7	SMART
PLEC	895	932	4.49e-7	SMART
PLEC	933	970	3.54e-5	SMART
PLEC	971	1008	3.27e-9	SMART
PLEC	1012	1046	6.31e-2	SMART
low complexity region	1117	1135	N/A	INTRINSIC
PLEC	1147	1184	3.84e0	SMART
PLEC	1185	1222	1.59e-7	SMART
PLEC	1223	1260	3.54e-5	SMART
PLEC	1261	1298	8.64e-9	SMART
PLEC	1299	1336	1.53e-9	SMART
PLEC	1339	1374	2.18e2	SMART
low complexity region	1446	1465	N/A	INTRINSIC
PLEC	1516	1553	3.22e-8	SMART
PLEC	1554	1591	7.82e-7	SMART
PLEC	1592	1629	1.9e-5	SMART
Pfam:Plectin	1631	1646	3.1e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169108
AA Change: V2181A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126068
Gene: ENSMUSG00000022565
AA Change: V2181A

Domain	Start	End	E-Value	Type
CH	12	111	4.57e-28	SMART
CH	128	226	3.52e-20	SMART
internal_repeat_2	261	343	1.31e-5	PROSPERO
internal_repeat_2	337	419	1.31e-5	PROSPERO
SPEC	484	581	3.08e-5	SMART
SPEC	584	684	1.29e-7	SMART
SPEC	690	852	3.01e0	SMART
low complexity region	931	945	N/A	INTRINSIC
SPEC	948	1054	3.48e0	SMART
SPEC	1057	1168	7.63e-1	SMART
SPEC	1175	1335	2.59e-1	SMART
low complexity region	1339	1379	N/A	INTRINSIC
low complexity region	1406	1423	N/A	INTRINSIC
low complexity region	1436	1467	N/A	INTRINSIC
low complexity region	1478	1527	N/A	INTRINSIC
low complexity region	1569	1598	N/A	INTRINSIC
low complexity region	1623	1648	N/A	INTRINSIC
low complexity region	1686	1707	N/A	INTRINSIC
low complexity region	1734	1798	N/A	INTRINSIC
low complexity region	1814	1839	N/A	INTRINSIC
low complexity region	1900	1914	N/A	INTRINSIC
low complexity region	1928	1954	N/A	INTRINSIC
low complexity region	1984	2018	N/A	INTRINSIC
low complexity region	2024	2038	N/A	INTRINSIC
low complexity region	2045	2073	N/A	INTRINSIC
low complexity region	2082	2131	N/A	INTRINSIC
low complexity region	2148	2163	N/A	INTRINSIC
low complexity region	2251	2267	N/A	INTRINSIC
low complexity region	2290	2308	N/A	INTRINSIC
low complexity region	2359	2372	N/A	INTRINSIC
low complexity region	2410	2440	N/A	INTRINSIC
low complexity region	2493	2514	N/A	INTRINSIC
low complexity region	2518	2533	N/A	INTRINSIC
low complexity region	2535	2576	N/A	INTRINSIC
PLEC	2615	2652	2.99e1	SMART
PLEC	2653	2690	4.49e-7	SMART
PLEC	2691	2728	4.49e-7	SMART
PLEC	2729	2766	3.54e-5	SMART
PLEC	2767	2804	3.27e-9	SMART
PLEC	2808	2842	6.31e-2	SMART
low complexity region	2913	2931	N/A	INTRINSIC
PLEC	2943	2980	3.84e0	SMART
PLEC	2981	3018	1.59e-7	SMART
PLEC	3019	3056	3.54e-5	SMART
PLEC	3057	3094	8.64e-9	SMART
PLEC	3095	3132	1.53e-9	SMART
PLEC	3135	3170	2.18e2	SMART
low complexity region	3242	3261	N/A	INTRINSIC
PLEC	3312	3349	3.22e-8	SMART
PLEC	3350	3387	7.82e-7	SMART
PLEC	3388	3425	1.9e-5	SMART
PLEC	3426	3463	7.01e-9	SMART
PLEC	3467	3501	3.38e-2	SMART
low complexity region	3513	3534	N/A	INTRINSIC
low complexity region	3540	3550	N/A	INTRINSIC
low complexity region	3583	3596	N/A	INTRINSIC
PLEC	3647	3684	1.22e-8	SMART
PLEC	3685	3722	1.26e-10	SMART
PLEC	3723	3760	2.24e-7	SMART
PLEC	3761	3798	1.82e-7	SMART
PLEC	3802	3835	5.49e1	SMART
PLEC	3839	3872	3.2e2	SMART
PLEC	3890	3927	8.77e-10	SMART
PLEC	3928	3965	4.13e-6	SMART
PLEC	3966	4003	3.03e-4	SMART
PLEC	4004	4041	4.77e-11	SMART
PLEC	4045	4079	1.28e-2	SMART
PLEC	4092	4132	1.05e-7	SMART
low complexity region	4134	4144	N/A	INTRINSIC
PLEC	4146	4183	1.73e1	SMART
low complexity region	4209	4224	N/A	INTRINSIC
PLEC	4235	4272	3.65e-7	SMART
PLEC	4273	4310	9.99e-14	SMART
PLEC	4311	4348	4.71e-1	SMART
PLEC	4349	4386	2.44e-8	SMART
PLEC	4387	4424	2.87e-5	SMART
low complexity region	4434	4469	N/A	INTRINSIC
low complexity region	4472	4498	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171562
AA Change: V2056A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129543
Gene: ENSMUSG00000022565
AA Change: V2056A

Domain	Start	End	E-Value	Type
CH	3	101	3.52e-20	SMART
internal_repeat_2	136	218	8.51e-6	PROSPERO
internal_repeat_2	212	294	8.51e-6	PROSPERO
SPEC	359	456	3.08e-5	SMART
SPEC	459	559	1.29e-7	SMART
SPEC	565	727	3.01e0	SMART
low complexity region	806	820	N/A	INTRINSIC
SPEC	823	929	3.48e0	SMART
SPEC	932	1043	7.63e-1	SMART
SPEC	1050	1210	2.59e-1	SMART
low complexity region	1214	1254	N/A	INTRINSIC
low complexity region	1281	1298	N/A	INTRINSIC
low complexity region	1311	1342	N/A	INTRINSIC
low complexity region	1353	1402	N/A	INTRINSIC
low complexity region	1444	1473	N/A	INTRINSIC
low complexity region	1498	1523	N/A	INTRINSIC
low complexity region	1561	1582	N/A	INTRINSIC
low complexity region	1609	1673	N/A	INTRINSIC
low complexity region	1689	1714	N/A	INTRINSIC
low complexity region	1775	1789	N/A	INTRINSIC
low complexity region	1803	1829	N/A	INTRINSIC
low complexity region	1859	1893	N/A	INTRINSIC
low complexity region	1899	1913	N/A	INTRINSIC
low complexity region	1920	1948	N/A	INTRINSIC
low complexity region	1957	2006	N/A	INTRINSIC
low complexity region	2023	2038	N/A	INTRINSIC
low complexity region	2126	2142	N/A	INTRINSIC
low complexity region	2165	2183	N/A	INTRINSIC
low complexity region	2234	2247	N/A	INTRINSIC
low complexity region	2285	2315	N/A	INTRINSIC
low complexity region	2368	2389	N/A	INTRINSIC
low complexity region	2393	2408	N/A	INTRINSIC
low complexity region	2410	2451	N/A	INTRINSIC
PLEC	2490	2527	2.99e1	SMART
PLEC	2528	2565	4.49e-7	SMART
PLEC	2566	2603	4.49e-7	SMART
PLEC	2604	2641	3.54e-5	SMART
PLEC	2642	2679	3.27e-9	SMART
PLEC	2683	2717	6.31e-2	SMART
low complexity region	2788	2806	N/A	INTRINSIC
PLEC	2818	2855	3.84e0	SMART
PLEC	2856	2893	1.59e-7	SMART
PLEC	2894	2931	3.54e-5	SMART
PLEC	2932	2969	8.64e-9	SMART
PLEC	2970	3007	1.53e-9	SMART
PLEC	3010	3045	2.18e2	SMART
low complexity region	3117	3136	N/A	INTRINSIC
PLEC	3187	3224	3.22e-8	SMART
PLEC	3225	3262	7.82e-7	SMART
PLEC	3263	3300	1.9e-5	SMART
PLEC	3301	3338	7.01e-9	SMART
PLEC	3342	3376	3.38e-2	SMART
low complexity region	3388	3409	N/A	INTRINSIC
low complexity region	3415	3425	N/A	INTRINSIC
low complexity region	3458	3471	N/A	INTRINSIC
PLEC	3522	3559	1.22e-8	SMART
PLEC	3560	3597	1.26e-10	SMART
PLEC	3598	3635	2.24e-7	SMART
PLEC	3636	3673	1.82e-7	SMART
PLEC	3677	3710	5.49e1	SMART
PLEC	3714	3747	3.2e2	SMART
PLEC	3765	3802	8.77e-10	SMART
PLEC	3803	3840	4.13e-6	SMART
PLEC	3841	3878	3.03e-4	SMART
PLEC	3879	3916	4.77e-11	SMART
PLEC	3920	3954	1.28e-2	SMART
PLEC	3967	4007	1.05e-7	SMART
low complexity region	4009	4019	N/A	INTRINSIC
PLEC	4021	4058	1.73e1	SMART
low complexity region	4084	4099	N/A	INTRINSIC
PLEC	4110	4147	3.65e-7	SMART
PLEC	4148	4185	9.99e-14	SMART
PLEC	4186	4223	4.71e-1	SMART
PLEC	4224	4261	2.44e-8	SMART
PLEC	4262	4299	2.87e-5	SMART
low complexity region	4309	4344	N/A	INTRINSIC
low complexity region	4347	4373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169438
AA Change: V2056A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127261
Gene: ENSMUSG00000022565
AA Change: V2056A

Domain	Start	End	E-Value	Type
CH	3	101	3.52e-20	SMART
internal_repeat_2	136	218	8.51e-6	PROSPERO
internal_repeat_2	212	294	8.51e-6	PROSPERO
SPEC	359	456	3.08e-5	SMART
SPEC	459	559	1.29e-7	SMART
SPEC	565	727	3.01e0	SMART
low complexity region	806	820	N/A	INTRINSIC
SPEC	823	929	3.48e0	SMART
SPEC	932	1043	7.63e-1	SMART
SPEC	1050	1210	2.59e-1	SMART
low complexity region	1214	1254	N/A	INTRINSIC
low complexity region	1281	1298	N/A	INTRINSIC
low complexity region	1311	1342	N/A	INTRINSIC
low complexity region	1353	1402	N/A	INTRINSIC
low complexity region	1444	1473	N/A	INTRINSIC
low complexity region	1498	1523	N/A	INTRINSIC
low complexity region	1561	1582	N/A	INTRINSIC
low complexity region	1609	1673	N/A	INTRINSIC
low complexity region	1689	1714	N/A	INTRINSIC
low complexity region	1775	1789	N/A	INTRINSIC
low complexity region	1803	1829	N/A	INTRINSIC
low complexity region	1859	1893	N/A	INTRINSIC
low complexity region	1899	1913	N/A	INTRINSIC
low complexity region	1920	1948	N/A	INTRINSIC
low complexity region	1957	2006	N/A	INTRINSIC
low complexity region	2023	2038	N/A	INTRINSIC
low complexity region	2126	2142	N/A	INTRINSIC
low complexity region	2165	2183	N/A	INTRINSIC
low complexity region	2234	2247	N/A	INTRINSIC
low complexity region	2285	2315	N/A	INTRINSIC
low complexity region	2368	2389	N/A	INTRINSIC
low complexity region	2393	2408	N/A	INTRINSIC
low complexity region	2410	2451	N/A	INTRINSIC
PLEC	2490	2527	2.99e1	SMART
PLEC	2528	2565	4.49e-7	SMART
PLEC	2566	2603	4.49e-7	SMART
PLEC	2604	2641	3.54e-5	SMART
PLEC	2642	2679	3.27e-9	SMART
PLEC	2683	2717	6.31e-2	SMART
low complexity region	2788	2806	N/A	INTRINSIC
PLEC	2818	2855	3.84e0	SMART
PLEC	2856	2893	1.59e-7	SMART
PLEC	2894	2931	3.54e-5	SMART
PLEC	2932	2969	8.64e-9	SMART
PLEC	2970	3007	1.53e-9	SMART
PLEC	3010	3045	2.18e2	SMART
low complexity region	3117	3136	N/A	INTRINSIC
PLEC	3187	3224	3.22e-8	SMART
PLEC	3225	3262	7.82e-7	SMART
PLEC	3263	3300	1.9e-5	SMART
PLEC	3301	3338	7.01e-9	SMART
PLEC	3342	3376	3.38e-2	SMART
low complexity region	3388	3409	N/A	INTRINSIC
low complexity region	3415	3425	N/A	INTRINSIC
low complexity region	3458	3471	N/A	INTRINSIC
PLEC	3522	3559	1.22e-8	SMART
PLEC	3560	3597	1.26e-10	SMART
PLEC	3598	3635	2.24e-7	SMART
PLEC	3636	3673	1.82e-7	SMART
PLEC	3677	3710	5.49e1	SMART
PLEC	3714	3747	3.2e2	SMART
PLEC	3765	3802	8.77e-10	SMART
PLEC	3803	3840	4.13e-6	SMART
PLEC	3841	3878	3.03e-4	SMART
PLEC	3879	3916	4.77e-11	SMART
PLEC	3920	3954	1.28e-2	SMART
PLEC	3967	4007	1.05e-7	SMART
low complexity region	4009	4019	N/A	INTRINSIC
PLEC	4021	4058	1.73e1	SMART
low complexity region	4084	4099	N/A	INTRINSIC
PLEC	4110	4147	3.65e-7	SMART
PLEC	4148	4185	9.99e-14	SMART
PLEC	4186	4223	4.71e-1	SMART
PLEC	4224	4261	2.44e-8	SMART
PLEC	4262	4299	2.87e-5	SMART
low complexity region	4309	4344	N/A	INTRINSIC
low complexity region	4347	4373	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169714
AA Change: V2213A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126526
Gene: ENSMUSG00000022565
AA Change: V2213A