Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Srcap'

706923

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, B930091H02Rik, F630004O05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127111155-127160391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127158812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 2896 (I2896N)

Ref Sequence

ENSEMBL: ENSMUSP00000140036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084563] [ENSMUST00000186954] [ENSMUST00000187040] [ENSMUST00000189629] [ENSMUST00000190278] [ENSMUST00000190390]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084563

SMART Domains

Protein: ENSMUSP00000081611
Gene: ENSMUSG00000106715

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
AT_hook	62	74	4.04e0	SMART
low complexity region	114	134	N/A	INTRINSIC
AT_hook	142	154	4.46e-1	SMART
low complexity region	155	166	N/A	INTRINSIC
low complexity region	175	202	N/A	INTRINSIC
AT_hook	206	218	3.94e-1	SMART
low complexity region	251	262	N/A	INTRINSIC
low complexity region	263	273	N/A	INTRINSIC
low complexity region	360	396	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000186954
AA Change: I2739N

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: I2739N

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: I2896N

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: I2896N

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

unknown
Transcript: ENSMUST00000189629
AA Change: I2720N

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: I2720N

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

probably benign
Transcript: ENSMUST00000190278

SMART Domains

Protein: ENSMUSP00000144111
Gene: ENSMUSG00000106715

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000190390
AA Change: I2835N

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: I2835N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206825

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	G	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Arid1b	C	A	17: 5,045,584 (GRCm39)	P124Q	unknown	Het
Atxn2	C	T	5: 121,923,425 (GRCm39)	P698L	probably damaging	Het
Bend7	T	C	2: 4,757,531 (GRCm39)	V191A	probably benign	Het
Bltp1	G	A	3: 37,104,989 (GRCm39)	D1485N		Het
C2cd4a	T	G	9: 67,738,779 (GRCm39)	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,020,452 (GRCm39)	Q830*	probably null	Het
Camta1	T	C	4: 151,228,474 (GRCm39)	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,603,390 (GRCm39)	S443P	probably benign	Het
Cass4	T	G	2: 172,269,806 (GRCm39)	F629L	probably benign	Het
Ccdc149	T	A	5: 52,562,399 (GRCm39)	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,316,910 (GRCm39)	V263A	probably damaging	Het
Cfc1	C	T	1: 34,576,453 (GRCm39)	R145C	probably damaging	Het
Cnn1	C	A	9: 22,019,350 (GRCm39)	D239E	probably damaging	Het
Cobll1	C	T	2: 64,933,516 (GRCm39)	S493N	probably benign	Het
Cox20	A	T	1: 178,146,771 (GRCm39)	K13*	probably null	Het
Dclk1	G	A	3: 55,370,500 (GRCm39)	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,038,877 (GRCm39)	D8E	probably benign	Het
Dnajc10	A	T	2: 80,175,327 (GRCm39)	K571N	probably benign	Het
Dock7	T	A	4: 98,896,280 (GRCm39)	I58F		Het
Dpy19l4	A	G	4: 11,304,298 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,483,918 (GRCm39)	D218G	probably benign	Het
Eya4	G	T	10: 22,989,845 (GRCm39)	T504K	probably damaging	Het
Fam222a	T	C	5: 114,749,398 (GRCm39)	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,748,585 (GRCm39)	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,452,681 (GRCm39)	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,678,316 (GRCm39)	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,017,610 (GRCm39)		probably benign	Het
Gm21028	A	T	7: 42,227,904 (GRCm39)	C37S	probably damaging	Het
Gpr179	G	T	11: 97,229,551 (GRCm39)	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796 (GRCm39)	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,045,360 (GRCm39)	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,946,068 (GRCm39)	T1181I	probably benign	Het
Herc4	G	A	10: 63,144,125 (GRCm39)	V753I	probably damaging	Het
Htra1	A	T	7: 130,563,851 (GRCm39)	K241*	probably null	Het
Kat6b	A	G	14: 21,720,093 (GRCm39)	I1482V	probably benign	Het
Kif19a	G	T	11: 114,680,033 (GRCm39)	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,659,462 (GRCm39)	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987 (GRCm39)	R94W	probably damaging	Het
Map4	A	G	9: 109,864,223 (GRCm39)	T483A	probably benign	Het
Mettl3	C	A	14: 52,534,125 (GRCm39)	C483F	probably damaging	Het
Myh13	A	G	11: 67,254,109 (GRCm39)	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,070,209 (GRCm39)	V414I	probably damaging	Het
Myh7b	C	T	2: 155,470,722 (GRCm39)	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,812,246 (GRCm39)	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,264,978 (GRCm39)	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,159,077 (GRCm39)	S786P	probably damaging	Het
Or5g23	T	A	2: 85,438,331 (GRCm39)	K308*	probably null	Het
Or6c205	A	G	10: 129,086,972 (GRCm39)	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,295,216 (GRCm39)	V141L	probably benign	Het
Phip	G	T	9: 82,757,412 (GRCm39)	R1587S	probably damaging	Het
Plce1	A	G	19: 38,726,377 (GRCm39)	E1448G	probably damaging	Het
Plrg1	T	C	3: 82,976,308 (GRCm39)	S326P	possibly damaging	Het
Pom121l2	T	A	13: 22,165,852 (GRCm39)	V41E	probably damaging	Het
Pramel17	C	T	4: 101,695,144 (GRCm39)	V56M	probably damaging	Het
Preb	G	T	5: 31,113,673 (GRCm39)	S311*	probably null	Het
Prss33	T	A	17: 24,053,723 (GRCm39)	D118V	probably damaging	Het
Pum1	C	A	4: 130,499,209 (GRCm39)	Y1008*	probably null	Het
Rassf2	G	A	2: 131,846,326 (GRCm39)	R144C	probably damaging	Het
Rnf123	A	T	9: 107,944,704 (GRCm39)	M429K	probably benign	Het
Rtl1	T	A	12: 109,557,291 (GRCm39)	H1516L	probably benign	Het
Scyl3	T	A	1: 163,764,007 (GRCm39)	N124K	probably damaging	Het
Sec24b	A	G	3: 129,801,220 (GRCm39)	S488P	probably benign	Het
Shc4	T	A	2: 125,520,618 (GRCm39)	D277V	probably damaging	Het
Sorl1	T	A	9: 41,912,814 (GRCm39)	D1389V	probably damaging	Het
Steap3	T	A	1: 120,155,564 (GRCm39)	Y465F	probably benign	Het
Tecta	C	A	9: 42,284,193 (GRCm39)	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem178b	G	A	6: 39,981,181 (GRCm39)	W72*	probably null	Het
Tmem235	T	G	11: 117,751,665 (GRCm39)	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,163,301 (GRCm39)	T366K	probably benign	Het
Trdv2-1	C	A	14: 54,183,848 (GRCm39)	P27T	probably benign	Het
Trim37	G	T	11: 87,058,328 (GRCm39)	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873 (GRCm39)	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 181,985,002 (GRCm39)	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,454,671 (GRCm39)	S543T	probably benign	Het
Wdpcp	C	T	11: 21,661,522 (GRCm39)	P265S	probably benign	Het
Wdr64	T	C	1: 175,599,871 (GRCm39)	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,405,891 (GRCm39)	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,465,463 (GRCm39)	I270F	probably damaging	Het
Zfp715	A	G	7: 42,948,847 (GRCm39)	L371P	probably damaging	Het

Other mutations in Srcap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Srcap	APN	7	127,141,885 (GRCm39)	splice site	probably benign
IGL00475:Srcap	APN	7	127,152,093 (GRCm39)	missense	possibly damaging	0.92
IGL01064:Srcap	APN	7	127,159,064 (GRCm39)	unclassified	probably benign
IGL01129:Srcap	APN	7	127,120,823 (GRCm39)	missense	probably damaging	1.00
IGL01670:Srcap	APN	7	127,127,604 (GRCm39)	missense	probably damaging	1.00
IGL01861:Srcap	APN	7	127,124,457 (GRCm39)	splice site	probably benign
IGL02237:Srcap	APN	7	127,133,864 (GRCm39)	splice site	probably benign
IGL02665:Srcap	APN	7	127,140,075 (GRCm39)	missense	probably damaging	1.00
IGL02688:Srcap	APN	7	127,141,625 (GRCm39)	missense	probably benign	0.04
IGL02744:Srcap	APN	7	127,133,838 (GRCm39)	missense	probably damaging	1.00
IGL02810:Srcap	APN	7	127,120,835 (GRCm39)	critical splice donor site	probably null
IGL03184:Srcap	APN	7	127,129,674 (GRCm39)	unclassified	probably benign
IGL03309:Srcap	APN	7	127,129,965 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Srcap	UTSW	7	127,148,492 (GRCm39)	missense	possibly damaging	0.52
R1340:Srcap	UTSW	7	127,159,910 (GRCm39)	intron	probably benign
R1401:Srcap	UTSW	7	127,159,124 (GRCm39)	unclassified	probably benign
R1455:Srcap	UTSW	7	127,129,822 (GRCm39)	missense	probably damaging	0.99
R1470:Srcap	UTSW	7	127,158,899 (GRCm39)	unclassified	probably benign
R1470:Srcap	UTSW	7	127,158,899 (GRCm39)	unclassified	probably benign
R1761:Srcap	UTSW	7	127,134,017 (GRCm39)	missense	probably damaging	1.00
R1911:Srcap	UTSW	7	127,133,994 (GRCm39)	missense	probably damaging	0.99
R2483:Srcap	UTSW	7	127,141,319 (GRCm39)	missense	probably damaging	0.99
R2892:Srcap	UTSW	7	127,138,237 (GRCm39)	missense	probably damaging	0.99
R2893:Srcap	UTSW	7	127,138,237 (GRCm39)	missense	probably damaging	0.99
R3623:Srcap	UTSW	7	127,141,319 (GRCm39)	missense	probably damaging	0.99
R3976:Srcap	UTSW	7	127,148,411 (GRCm39)	missense	probably benign	0.18
R4001:Srcap	UTSW	7	127,131,339 (GRCm39)	missense	probably damaging	1.00
R4015:Srcap	UTSW	7	127,124,595 (GRCm39)	missense	probably benign	0.27
R4581:Srcap	UTSW	7	127,157,482 (GRCm39)	unclassified	probably benign
R4643:Srcap	UTSW	7	127,140,948 (GRCm39)	missense	probably damaging	1.00
R4644:Srcap	UTSW	7	127,151,770 (GRCm39)	missense	probably damaging	1.00
R4690:Srcap	UTSW	7	127,137,186 (GRCm39)	missense	probably damaging	1.00
R4693:Srcap	UTSW	7	127,137,716 (GRCm39)	missense	probably damaging	1.00
R4719:Srcap	UTSW	7	127,140,731 (GRCm39)	missense	probably benign	0.13
R4728:Srcap	UTSW	7	127,140,096 (GRCm39)	critical splice donor site	probably null
R4740:Srcap	UTSW	7	127,148,471 (GRCm39)	missense	probably damaging	1.00
R4752:Srcap	UTSW	7	127,158,172 (GRCm39)	unclassified	probably benign
R4834:Srcap	UTSW	7	127,156,782 (GRCm39)	critical splice donor site	probably null
R4837:Srcap	UTSW	7	127,158,134 (GRCm39)	unclassified	probably benign
R4884:Srcap	UTSW	7	127,121,189 (GRCm39)	missense	probably damaging	1.00
R4889:Srcap	UTSW	7	127,137,719 (GRCm39)	missense	possibly damaging	0.94
R5088:Srcap	UTSW	7	127,140,833 (GRCm39)	missense	probably benign	0.02
R5102:Srcap	UTSW	7	127,129,795 (GRCm39)	missense	probably damaging	1.00
R5358:Srcap	UTSW	7	127,139,492 (GRCm39)	missense	probably damaging	1.00
R5372:Srcap	UTSW	7	127,156,785 (GRCm39)	splice site	probably null
R5397:Srcap	UTSW	7	127,152,468 (GRCm39)	critical splice donor site	probably null
R5481:Srcap	UTSW	7	127,131,369 (GRCm39)	missense	probably damaging	1.00
R5566:Srcap	UTSW	7	127,124,475 (GRCm39)	missense	probably damaging	0.99
R5584:Srcap	UTSW	7	127,127,651 (GRCm39)	missense	probably damaging	1.00
R5693:Srcap	UTSW	7	127,118,988 (GRCm39)	missense	probably damaging	1.00
R5769:Srcap	UTSW	7	127,158,994 (GRCm39)	unclassified	probably benign
R5805:Srcap	UTSW	7	127,141,211 (GRCm39)	missense	possibly damaging	0.87
R5806:Srcap	UTSW	7	127,158,335 (GRCm39)	unclassified	probably benign
R5921:Srcap	UTSW	7	127,158,005 (GRCm39)	unclassified	probably benign
R5942:Srcap	UTSW	7	127,137,180 (GRCm39)	missense	probably damaging	1.00
R6014:Srcap	UTSW	7	127,137,922 (GRCm39)	missense	probably benign	0.01
R6057:Srcap	UTSW	7	127,140,528 (GRCm39)	missense	probably damaging	0.99
R6113:Srcap	UTSW	7	127,159,453 (GRCm39)	unclassified	probably benign
R6150:Srcap	UTSW	7	127,134,000 (GRCm39)	missense	probably damaging	1.00
R6212:Srcap	UTSW	7	127,148,861 (GRCm39)	missense	probably damaging	1.00
R6299:Srcap	UTSW	7	127,129,626 (GRCm39)	unclassified	probably benign
R6437:Srcap	UTSW	7	127,127,722 (GRCm39)	splice site	probably null
R6492:Srcap	UTSW	7	127,121,317 (GRCm39)	nonsense	probably null
R6537:Srcap	UTSW	7	127,141,392 (GRCm39)	missense	probably damaging	0.97
R6659:Srcap	UTSW	7	127,141,563 (GRCm39)	missense	probably damaging	1.00
R6713:Srcap	UTSW	7	127,134,089 (GRCm39)	missense	probably benign	0.28
R6717:Srcap	UTSW	7	127,157,482 (GRCm39)	unclassified	probably benign
R6941:Srcap	UTSW	7	127,141,769 (GRCm39)	missense	probably damaging	1.00
R7068:Srcap	UTSW	7	127,141,115 (GRCm39)	missense	probably benign	0.00
R7097:Srcap	UTSW	7	127,138,213 (GRCm39)	missense	probably damaging	1.00
R7394:Srcap	UTSW	7	127,134,000 (GRCm39)	missense	probably damaging	1.00
R7426:Srcap	UTSW	7	127,137,689 (GRCm39)	missense	possibly damaging	0.90
R7434:Srcap	UTSW	7	127,159,414 (GRCm39)	missense	unknown
R7559:Srcap	UTSW	7	127,129,722 (GRCm39)	missense	unknown
R7638:Srcap	UTSW	7	127,137,920 (GRCm39)	missense	probably benign	0.39
R7677:Srcap	UTSW	7	127,158,980 (GRCm39)	missense	unknown
R7715:Srcap	UTSW	7	127,148,460 (GRCm39)	missense	probably damaging	0.99
R7757:Srcap	UTSW	7	127,129,966 (GRCm39)	missense	probably damaging	0.99
R7811:Srcap	UTSW	7	127,141,221 (GRCm39)	missense	probably damaging	0.97
R7821:Srcap	UTSW	7	127,129,499 (GRCm39)	unclassified	probably benign
R7869:Srcap	UTSW	7	127,138,366 (GRCm39)	missense	possibly damaging	0.92
R7870:Srcap	UTSW	7	127,159,730 (GRCm39)	missense	unknown
R7941:Srcap	UTSW	7	127,157,462 (GRCm39)	unclassified	probably benign
R7994:Srcap	UTSW	7	127,140,930 (GRCm39)	missense	probably benign	0.00
R8035:Srcap	UTSW	7	127,141,784 (GRCm39)	missense	probably benign	0.05
R8066:Srcap	UTSW	7	127,139,484 (GRCm39)	missense	possibly damaging	0.74
R8066:Srcap	UTSW	7	127,120,804 (GRCm39)	missense	probably damaging	1.00
R8168:Srcap	UTSW	7	127,141,695 (GRCm39)	missense	probably damaging	1.00
R8194:Srcap	UTSW	7	127,138,369 (GRCm39)	missense	probably damaging	1.00
R8288:Srcap	UTSW	7	127,130,528 (GRCm39)	missense	probably damaging	1.00
R8307:Srcap	UTSW	7	127,124,541 (GRCm39)	missense	probably damaging	1.00
R8308:Srcap	UTSW	7	127,152,353 (GRCm39)	missense	possibly damaging	0.82
R8309:Srcap	UTSW	7	127,148,529 (GRCm39)	missense	probably damaging	0.98
R8311:Srcap	UTSW	7	127,156,969 (GRCm39)	missense	probably damaging	0.99
R8321:Srcap	UTSW	7	127,140,068 (GRCm39)	missense	probably damaging	1.00
R8365:Srcap	UTSW	7	127,148,869 (GRCm39)	missense	probably damaging	1.00
R8424:Srcap	UTSW	7	127,141,560 (GRCm39)	missense	probably benign	0.00
R8815:Srcap	UTSW	7	127,158,037 (GRCm39)	missense	unknown
R8817:Srcap	UTSW	7	127,152,395 (GRCm39)	missense	probably benign	0.23
R8924:Srcap	UTSW	7	127,158,204 (GRCm39)	missense	unknown
R8933:Srcap	UTSW	7	127,151,566 (GRCm39)	missense	probably damaging	1.00
R8961:Srcap	UTSW	7	127,141,101 (GRCm39)	missense	probably damaging	1.00
R9000:Srcap	UTSW	7	127,130,943 (GRCm39)	missense	possibly damaging	0.91
R9098:Srcap	UTSW	7	127,151,816 (GRCm39)	missense	probably damaging	0.99
R9124:Srcap	UTSW	7	127,159,874 (GRCm39)	missense	unknown
R9163:Srcap	UTSW	7	127,121,162 (GRCm39)	missense	unknown
R9389:Srcap	UTSW	7	127,141,455 (GRCm39)	missense	probably damaging	1.00
R9464:Srcap	UTSW	7	127,137,273 (GRCm39)	missense	possibly damaging	0.95
R9467:Srcap	UTSW	7	127,139,531 (GRCm39)	missense	probably damaging	0.98
R9554:Srcap	UTSW	7	127,151,577 (GRCm39)	missense	probably damaging	1.00
R9596:Srcap	UTSW	7	127,131,036 (GRCm39)	missense	probably damaging	1.00
R9597:Srcap	UTSW	7	127,121,219 (GRCm39)	missense	possibly damaging	0.91
X0025:Srcap	UTSW	7	127,159,277 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGCGCCAGTCCAAGAAG -3'
(R):5'- TGGGGCCCAGGAACAAATTG -3'

Sequencing Primer
(F):5'- CCATCGATCCACAGTATGTCAGGG -3'
(R):5'- CAAATTGGGGCCTGAGGTC -3'

Posted On

2022-04-18