Mutagenetix > Incidental Mutations

Incidental Mutation 'R6299:Srcap'

508972

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, F630004O05Rik, B930091H02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127511983-127561219 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 127530454 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066582] [ENSMUST00000186672] [ENSMUST00000186954] [ENSMUST00000187040] [ENSMUST00000188124] [ENSMUST00000189629] [ENSMUST00000190390]

Predicted Effect

unknown
Transcript: ENSMUST00000066582
AA Change: C483R

SMART Domains

Protein: ENSMUSP00000063817
Gene: ENSMUSG00000053877
AA Change: C483R

Domain	Start	End	E-Value	Type
Pfam:HSA	108	177	1.1e-22	PFAM
low complexity region	238	261	N/A	INTRINSIC
low complexity region	264	291	N/A	INTRINSIC
low complexity region	303	328	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC
low complexity region	460	538	N/A	INTRINSIC
low complexity region	557	572	N/A	INTRINSIC
DEXDc	606	798	1.22e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185401

Predicted Effect

unknown
Transcript: ENSMUST00000186672
AA Change: C503R

SMART Domains

Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: C503R

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC
low complexity region	1150	1178	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000186954
AA Change: C503R

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: C503R

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1175	1194	N/A	INTRINSIC
internal_repeat_1	1202	1245	2.24e-5	PROSPERO
low complexity region	1274	1302	N/A	INTRINSIC
low complexity region	1304	1318	N/A	INTRINSIC
low complexity region	1335	1353	N/A	INTRINSIC
low complexity region	1355	1370	N/A	INTRINSIC
low complexity region	1414	1441	N/A	INTRINSIC
low complexity region	1452	1466	N/A	INTRINSIC
low complexity region	1504	1533	N/A	INTRINSIC
internal_repeat_1	1536	1579	2.24e-5	PROSPERO
internal_repeat_2	1537	1559	5.66e-5	PROSPERO
internal_repeat_2	1569	1589	5.66e-5	PROSPERO
low complexity region	1590	1607	N/A	INTRINSIC
low complexity region	1609	1627	N/A	INTRINSIC
low complexity region	1644	1678	N/A	INTRINSIC
low complexity region	1713	1726	N/A	INTRINSIC
low complexity region	1828	1840	N/A	INTRINSIC
HELICc	1916	1999	1.2e-28	SMART
low complexity region	2058	2078	N/A	INTRINSIC
coiled coil region	2166	2201	N/A	INTRINSIC
low complexity region	2282	2348	N/A	INTRINSIC
low complexity region	2374	2409	N/A	INTRINSIC
low complexity region	2588	2600	N/A	INTRINSIC
low complexity region	2642	2657	N/A	INTRINSIC
low complexity region	2685	2712	N/A	INTRINSIC
AT_hook	2745	2757	2.4e-2	SMART
low complexity region	2797	2817	N/A	INTRINSIC
AT_hook	2825	2837	2.6e-3	SMART
low complexity region	2838	2849	N/A	INTRINSIC
low complexity region	2858	2885	N/A	INTRINSIC
AT_hook	2889	2901	2.4e-3	SMART
low complexity region	2934	2945	N/A	INTRINSIC
low complexity region	2946	2956	N/A	INTRINSIC
low complexity region	3043	3079	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000187040
AA Change: C503R

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: C503R

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC
low complexity region	1150	1178	N/A	INTRINSIC
low complexity region	1277	1305	N/A	INTRINSIC
low complexity region	1332	1351	N/A	INTRINSIC
internal_repeat_1	1359	1402	1.78e-5	PROSPERO
low complexity region	1431	1459	N/A	INTRINSIC
low complexity region	1461	1475	N/A	INTRINSIC
low complexity region	1492	1510	N/A	INTRINSIC
low complexity region	1512	1527	N/A	INTRINSIC
low complexity region	1571	1598	N/A	INTRINSIC
low complexity region	1609	1623	N/A	INTRINSIC
low complexity region	1661	1690	N/A	INTRINSIC
internal_repeat_1	1693	1736	1.78e-5	PROSPERO
internal_repeat_2	1694	1716	4.56e-5	PROSPERO
internal_repeat_2	1726	1746	4.56e-5	PROSPERO
low complexity region	1747	1764	N/A	INTRINSIC
low complexity region	1766	1784	N/A	INTRINSIC
low complexity region	1801	1835	N/A	INTRINSIC
low complexity region	1870	1883	N/A	INTRINSIC
low complexity region	1985	1997	N/A	INTRINSIC
HELICc	2073	2156	1.2e-28	SMART
low complexity region	2215	2235	N/A	INTRINSIC
coiled coil region	2323	2358	N/A	INTRINSIC
low complexity region	2439	2505	N/A	INTRINSIC
low complexity region	2531	2566	N/A	INTRINSIC
low complexity region	2745	2757	N/A	INTRINSIC
low complexity region	2799	2814	N/A	INTRINSIC
low complexity region	2842	2869	N/A	INTRINSIC
AT_hook	2902	2914	2.4e-2	SMART
low complexity region	2954	2974	N/A	INTRINSIC
AT_hook	2982	2994	2.6e-3	SMART
low complexity region	2995	3006	N/A	INTRINSIC
low complexity region	3015	3042	N/A	INTRINSIC
AT_hook	3046	3058	2.4e-3	SMART
low complexity region	3091	3102	N/A	INTRINSIC
low complexity region	3103	3113	N/A	INTRINSIC
low complexity region	3200	3236	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187164

Predicted Effect

probably benign
Transcript: ENSMUST00000188124

SMART Domains

Protein: ENSMUSP00000140882
Gene: ENSMUSG00000053877

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	419	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000189629
AA Change: C484R

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: C484R

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
HSA	106	177	5.4e-25	SMART
low complexity region	238	261	N/A	INTRINSIC
low complexity region	264	291	N/A	INTRINSIC
low complexity region	303	328	N/A	INTRINSIC
low complexity region	377	401	N/A	INTRINSIC
low complexity region	461	539	N/A	INTRINSIC
low complexity region	558	573	N/A	INTRINSIC
DEXDc	607	799	5e-37	SMART
low complexity region	974	982	N/A	INTRINSIC
low complexity region	1008	1023	N/A	INTRINSIC
low complexity region	1027	1044	N/A	INTRINSIC
low complexity region	1156	1175	N/A	INTRINSIC
internal_repeat_1	1183	1226	2e-5	PROSPERO
low complexity region	1255	1283	N/A	INTRINSIC
low complexity region	1285	1299	N/A	INTRINSIC
low complexity region	1316	1334	N/A	INTRINSIC
low complexity region	1336	1351	N/A	INTRINSIC
low complexity region	1395	1422	N/A	INTRINSIC
low complexity region	1433	1447	N/A	INTRINSIC
low complexity region	1485	1514	N/A	INTRINSIC
internal_repeat_1	1517	1560	2e-5	PROSPERO
internal_repeat_2	1518	1540	5.08e-5	PROSPERO
internal_repeat_2	1550	1570	5.08e-5	PROSPERO
low complexity region	1571	1588	N/A	INTRINSIC
low complexity region	1590	1608	N/A	INTRINSIC
low complexity region	1625	1659	N/A	INTRINSIC
low complexity region	1694	1707	N/A	INTRINSIC
low complexity region	1809	1821	N/A	INTRINSIC
HELICc	1897	1980	1.2e-28	SMART
low complexity region	2039	2059	N/A	INTRINSIC
coiled coil region	2147	2182	N/A	INTRINSIC
low complexity region	2263	2329	N/A	INTRINSIC
low complexity region	2355	2390	N/A	INTRINSIC
low complexity region	2569	2581	N/A	INTRINSIC
low complexity region	2623	2638	N/A	INTRINSIC
low complexity region	2666	2693	N/A	INTRINSIC
AT_hook	2726	2738	2.4e-2	SMART
low complexity region	2778	2798	N/A	INTRINSIC
AT_hook	2806	2818	2.6e-3	SMART
low complexity region	2819	2830	N/A	INTRINSIC
low complexity region	2839	2866	N/A	INTRINSIC
AT_hook	2870	2882	2.4e-3	SMART
low complexity region	2915	2926	N/A	INTRINSIC
low complexity region	2927	2937	N/A	INTRINSIC
low complexity region	3024	3060	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189812

Predicted Effect

unknown
Transcript: ENSMUST00000190390
AA Change: C503R

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: C503R

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC
low complexity region	1150	1178	N/A	INTRINSIC
low complexity region	1271	1290	N/A	INTRINSIC
internal_repeat_1	1298	1341	2.01e-5	PROSPERO
low complexity region	1370	1398	N/A	INTRINSIC
low complexity region	1400	1414	N/A	INTRINSIC
low complexity region	1431	1449	N/A	INTRINSIC
low complexity region	1451	1466	N/A	INTRINSIC
low complexity region	1510	1537	N/A	INTRINSIC
low complexity region	1548	1562	N/A	INTRINSIC
low complexity region	1600	1629	N/A	INTRINSIC
internal_repeat_1	1632	1675	2.01e-5	PROSPERO
internal_repeat_2	1633	1655	5.11e-5	PROSPERO
internal_repeat_2	1665	1685	5.11e-5	PROSPERO
low complexity region	1686	1703	N/A	INTRINSIC
low complexity region	1705	1723	N/A	INTRINSIC
low complexity region	1740	1774	N/A	INTRINSIC
low complexity region	1809	1822	N/A	INTRINSIC
low complexity region	1924	1936	N/A	INTRINSIC
HELICc	2012	2095	1.2e-28	SMART
low complexity region	2154	2174	N/A	INTRINSIC
coiled coil region	2262	2297	N/A	INTRINSIC
low complexity region	2378	2444	N/A	INTRINSIC
low complexity region	2470	2505	N/A	INTRINSIC
low complexity region	2684	2696	N/A	INTRINSIC
low complexity region	2738	2753	N/A	INTRINSIC
low complexity region	2781	2808	N/A	INTRINSIC
AT_hook	2841	2853	2.4e-2	SMART
low complexity region	2893	2913	N/A	INTRINSIC
AT_hook	2921	2933	2.6e-3	SMART
low complexity region	2934	2945	N/A	INTRINSIC
low complexity region	2954	2981	N/A	INTRINSIC
AT_hook	2985	2997	2.4e-3	SMART
low complexity region	3030	3041	N/A	INTRINSIC
low complexity region	3042	3052	N/A	INTRINSIC
low complexity region	3139	3175	N/A	INTRINSIC

Meta Mutation Damage Score

0.0612

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	G	A	6: 118,418,515	R24W	probably damaging	Het
C130050O18Rik	A	T	5: 139,414,371	S60C	probably damaging	Het
Cabcoco1	A	G	10: 68,436,890	Y222H	probably damaging	Het
Cc2d1b	T	C	4: 108,628,138	V559A	probably benign	Het
Cgrrf1	T	A	14: 46,840,190	N46K	probably damaging	Het
Clca3a1	T	C	3: 144,758,514	D114G	probably damaging	Het
Clcnkb	T	A	4: 141,410,723	L279F	probably damaging	Het
Cr2	T	C	1: 195,168,646	T151A	probably damaging	Het
Creb3l3	C	T	10: 81,088,613	E236K	probably damaging	Het
Dcstamp	T	A	15: 39,755,203	V336D	probably damaging	Het
Dopey1	T	G	9: 86,504,212	F379V	probably damaging	Het
Esf1	T	C	2: 140,123,634	K714R	possibly damaging	Het
Exoc3l4	A	T	12: 111,422,079	M1L	possibly damaging	Het
Extl3	T	C	14: 65,076,672	R354G	probably benign	Het
Fastkd3	T	C	13: 68,587,736	L535P	probably damaging	Het
Gab2	A	G	7: 97,081,859	T12A	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Golga4	T	A	9: 118,557,370	S1187T	probably benign	Het
Haus3	A	G	5: 34,167,796	V173A	probably benign	Het
Herc2	T	A	7: 56,135,055	Y1416N	possibly damaging	Het
Hspg2	A	G	4: 137,544,705	Y2566C	probably damaging	Het
Inpp5f	A	T	7: 128,636,160	T34S	possibly damaging	Het
Iqck	G	A	7: 118,876,262	G70S	unknown	Het
Jade1	T	C	3: 41,613,725	F743L	probably damaging	Het
Kif5a	T	C	10: 127,233,821	K845R	probably damaging	Het
Klhl30	A	G	1: 91,357,914		probably null	Het
Map2k1	T	C	9: 64,214,490	D67G	possibly damaging	Het
Mcm9	A	C	10: 53,537,681	C434W	probably damaging	Het
Muc4	T	G	16: 32,752,035	S638A	possibly damaging	Het
Nectin3	A	G	16: 46,463,982	V113A	probably damaging	Het
Nfya	T	C	17: 48,392,910		probably benign	Het
Nup155	G	T	15: 8,128,438	A460S	possibly damaging	Het
Nup210	T	C	6: 91,074,288	E371G	possibly damaging	Het
Olfm3	T	C	3: 115,120,983	S228P	probably damaging	Het
Olfr659	C	A	7: 104,670,868	D55E	probably benign	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Plin1	A	C	7: 79,721,476	V500G	probably benign	Het
Ppfia1	A	C	7: 144,510,312	M513R	probably benign	Het
Ppp1cb	T	A	5: 32,483,454	C27*	probably null	Het
Prss22	T	A	17: 23,996,434	I123F	probably damaging	Het
Rbm24	G	T	13: 46,419,073	V15L	probably damaging	Het
Reln	T	C	5: 22,286,944	T97A	possibly damaging	Het
Sipa1l2	T	C	8: 125,453,464	T1065A	possibly damaging	Het
Sipa1l3	A	C	7: 29,366,549		probably null	Het
Snrnp200	T	A	2: 127,222,161	Y689*	probably null	Het
Sv2a	T	C	3: 96,188,249		probably null	Het
Tcf12	A	T	9: 71,858,929	V474D	probably damaging	Het
Tpcn2	A	T	7: 145,262,243	S403T	probably damaging	Het
Trim65	C	A	11: 116,126,551	A362S	probably benign	Het
Trmt1	T	A	8: 84,697,290	C36*	probably null	Het
Trpm8	T	A	1: 88,354,479	L699Q	probably damaging	Het
Ube2m	A	C	7: 13,035,870	I116R	probably damaging	Het
Ulk1	T	C	5: 110,791,097	K492E	possibly damaging	Het
Usp40	T	A	1: 87,997,927	K193N	probably damaging	Het
Vmn1r3	A	G	4: 3,185,098	S70P	possibly damaging	Het
Vmn2r2	T	A	3: 64,116,653	K836*	probably null	Het
Vmn2r75	T	A	7: 86,165,274	H337L	probably benign	Het
Wars	G	A	12: 108,861,383	T437M	probably benign	Het
Zdhhc5	T	C	2: 84,690,481	T451A	probably benign	Het
Zfp788	T	G	7: 41,648,541	H180Q	possibly damaging	Het
Zkscan7	A	G	9: 122,888,717	E59G	probably damaging	Het

Other mutations in Srcap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Srcap	APN	7	127542713	splice site	probably benign
IGL00475:Srcap	APN	7	127552921	missense	possibly damaging	0.92
IGL01064:Srcap	APN	7	127559892	unclassified	probably benign
IGL01129:Srcap	APN	7	127521651	missense	probably damaging	1.00
IGL01670:Srcap	APN	7	127528432	missense	probably damaging	1.00
IGL01861:Srcap	APN	7	127525285	splice site	probably benign
IGL02237:Srcap	APN	7	127534692	splice site	probably benign
IGL02665:Srcap	APN	7	127540903	missense	probably damaging	1.00
IGL02688:Srcap	APN	7	127542453	missense	probably benign	0.04
IGL02744:Srcap	APN	7	127534666	missense	probably damaging	1.00
IGL02810:Srcap	APN	7	127521663	critical splice donor site	probably null
IGL03184:Srcap	APN	7	127530502	unclassified	probably benign
IGL03309:Srcap	APN	7	127530793	missense	probably damaging	0.99
PIT4453001:Srcap	UTSW	7	127549320	missense	possibly damaging	0.52
R1340:Srcap	UTSW	7	127560738	intron	probably benign
R1401:Srcap	UTSW	7	127559952	unclassified	probably benign
R1455:Srcap	UTSW	7	127530650	missense	probably damaging	0.99
R1470:Srcap	UTSW	7	127559727	unclassified	probably benign
R1470:Srcap	UTSW	7	127559727	unclassified	probably benign
R1761:Srcap	UTSW	7	127534845	missense	probably damaging	1.00
R1911:Srcap	UTSW	7	127534822	missense	probably damaging	0.99
R2483:Srcap	UTSW	7	127542147	missense	probably damaging	0.99
R2892:Srcap	UTSW	7	127539065	missense	probably damaging	0.99
R2893:Srcap	UTSW	7	127539065	missense	probably damaging	0.99
R3623:Srcap	UTSW	7	127542147	missense	probably damaging	0.99
R3976:Srcap	UTSW	7	127549239	missense	probably benign	0.18
R4001:Srcap	UTSW	7	127532167	missense	probably damaging	1.00
R4015:Srcap	UTSW	7	127525423	missense	probably benign	0.27
R4581:Srcap	UTSW	7	127558310	unclassified	probably benign
R4643:Srcap	UTSW	7	127541776	missense	probably damaging	1.00
R4644:Srcap	UTSW	7	127552598	missense	probably damaging	1.00
R4690:Srcap	UTSW	7	127538014	missense	probably damaging	1.00
R4693:Srcap	UTSW	7	127538544	missense	probably damaging	1.00
R4719:Srcap	UTSW	7	127541559	missense	probably benign	0.13
R4728:Srcap	UTSW	7	127540924	critical splice donor site	probably null
R4740:Srcap	UTSW	7	127549299	missense	probably damaging	1.00
R4752:Srcap	UTSW	7	127559000	unclassified	probably benign
R4834:Srcap	UTSW	7	127557610	critical splice donor site	probably null
R4837:Srcap	UTSW	7	127558962	unclassified	probably benign
R4884:Srcap	UTSW	7	127522017	missense	probably damaging	1.00
R4889:Srcap	UTSW	7	127538547	missense	possibly damaging	0.94
R5088:Srcap	UTSW	7	127541661	missense	probably benign	0.02
R5102:Srcap	UTSW	7	127530623	missense	probably damaging	1.00
R5358:Srcap	UTSW	7	127540320	missense	probably damaging	1.00
R5372:Srcap	UTSW	7	127557613	splice site	probably null
R5397:Srcap	UTSW	7	127553296	critical splice donor site	probably null
R5481:Srcap	UTSW	7	127532197	missense	probably damaging	1.00
R5566:Srcap	UTSW	7	127525303	missense	probably damaging	0.99
R5584:Srcap	UTSW	7	127528479	missense	probably damaging	1.00
R5693:Srcap	UTSW	7	127519816	missense	probably damaging	1.00
R5769:Srcap	UTSW	7	127559822	unclassified	probably benign
R5805:Srcap	UTSW	7	127542039	missense	possibly damaging	0.87
R5806:Srcap	UTSW	7	127559163	unclassified	probably benign
R5921:Srcap	UTSW	7	127558833	unclassified	probably benign
R5942:Srcap	UTSW	7	127538008	missense	probably damaging	1.00
R6014:Srcap	UTSW	7	127538750	missense	probably benign	0.01
R6057:Srcap	UTSW	7	127541356	missense	probably damaging	0.99
R6113:Srcap	UTSW	7	127560281	unclassified	probably benign
R6150:Srcap	UTSW	7	127534828	missense	probably damaging	1.00
R6212:Srcap	UTSW	7	127549689	missense	probably damaging	1.00
R6437:Srcap	UTSW	7	127528550	intron	probably null
R6492:Srcap	UTSW	7	127522145	nonsense	probably null
R6537:Srcap	UTSW	7	127542220	missense	probably damaging	0.97
R6659:Srcap	UTSW	7	127542391	missense	probably damaging	1.00
R6713:Srcap	UTSW	7	127534917	missense	probably benign	0.28
R6717:Srcap	UTSW	7	127558310	unclassified	probably benign
R6941:Srcap	UTSW	7	127542597	missense	probably damaging	1.00
R7068:Srcap	UTSW	7	127541943	missense	probably benign	0.00
R7097:Srcap	UTSW	7	127539041	missense	probably damaging	1.00
R7394:Srcap	UTSW	7	127534828	missense	probably damaging	1.00
R7426:Srcap	UTSW	7	127538517	missense	possibly damaging	0.90
R7434:Srcap	UTSW	7	127560242	missense	unknown
R7559:Srcap	UTSW	7	127530550	missense	unknown
X0025:Srcap	UTSW	7	127560105	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGCCTGTGATGCCTCTGC -3'
(R):5'- GGGCAAGCAAGTACTCTACTC -3'

Sequencing Primer
(F):5'- TCCAGCCTCAGGGGATAGTG -3'
(R):5'- TCTACTCCAAAACCATCATCATCGTC -3'

Posted On

2018-04-02