Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Srcap'

387574

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, B930091H02Rik, F630004O05Rik

MMRRC Submission

042677-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127111155-127160391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127140833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1477 (T1477A)

Ref Sequence

ENSEMBL: ENSMUSP00000139399 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000186672

SMART Domains

Protein: ENSMUSP00000140395
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	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

probably benign
Transcript: ENSMUST00000186954
AA Change: T1381A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: T1381A

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

probably benign
Transcript: ENSMUST00000187040
AA Change: T1538A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: T1538A

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

probably benign
Transcript: ENSMUST00000189629
AA Change: T1362A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: T1362A

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: ENSMUST00000190390
AA Change: T1477A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: T1477A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,883,939 (GRCm39)	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,217,038 (GRCm39)	R246G	probably benign	Het
Aak1	T	C	6: 86,921,462 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,412 (GRCm39)	L695P	probably damaging	Het
Alcam	T	A	16: 52,109,290 (GRCm39)	T328S	probably damaging	Het
Alpk1	A	G	3: 127,478,969 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,970,889 (GRCm39)	L642P	probably damaging	Het
Atrip	T	C	9: 108,888,964 (GRCm39)	D741G	probably damaging	Het
Bmp1	T	C	14: 70,723,659 (GRCm39)	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,496,337 (GRCm39)		probably null	Het
Cacng5	C	G	11: 107,768,215 (GRCm39)	C264S	possibly damaging	Het
Calr4	T	A	4: 109,101,859 (GRCm39)		probably benign	Het
Cdhr1	T	A	14: 36,811,422 (GRCm39)	T230S	probably benign	Het
Cdk16	T	C	X: 20,562,566 (GRCm39)		probably benign	Het
Cenpj	T	C	14: 56,791,148 (GRCm39)	E337G	probably damaging	Het
Chd9	A	G	8: 91,704,147 (GRCm39)	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,312,607 (GRCm39)	V360D	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cyp20a1	A	T	1: 60,402,509 (GRCm39)	H198L	probably damaging	Het
Dnai1	T	A	4: 41,597,630 (GRCm39)	S38T	probably benign	Het
Dnai1	T	G	4: 41,632,251 (GRCm39)	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357 (GRCm39)	T188K	probably damaging	Het
Ergic2	A	G	6: 148,084,621 (GRCm39)	V304A	probably damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbxo7	A	G	10: 85,857,784 (GRCm39)		probably benign	Het
Gins4	T	C	8: 23,727,084 (GRCm39)	E3G	possibly damaging	Het
Glis3	G	A	19: 28,508,979 (GRCm39)	P335L	probably benign	Het
Golph3l	A	T	3: 95,524,501 (GRCm39)	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,722,181 (GRCm39)	A445V	probably benign	Het
Hykk	A	G	9: 54,853,763 (GRCm39)	I362V	probably benign	Het
Il6st	G	A	13: 112,627,089 (GRCm39)	V294M	probably damaging	Het
Itpr1	A	G	6: 108,366,348 (GRCm39)	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,252,936 (GRCm39)	L501P	probably benign	Het
Mpi	G	A	9: 57,457,887 (GRCm39)	T105M	probably damaging	Het
Mrpl37	A	T	4: 106,921,919 (GRCm39)	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,350,056 (GRCm39)	T600S	possibly damaging	Het
Npl	A	T	1: 153,384,890 (GRCm39)	I249N	possibly damaging	Het
Or10j27	C	T	1: 172,958,606 (GRCm39)	M59I	probably damaging	Het
Or7g30	A	G	9: 19,353,067 (GRCm39)	N286S	probably damaging	Het
Pkd1	A	G	17: 24,809,812 (GRCm39)	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,080,095 (GRCm39)	N235D	probably benign	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Rcvrn	A	T	11: 67,586,340 (GRCm39)	Q33L	probably benign	Het
Rif1	A	T	2: 51,982,307 (GRCm39)	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,771,790 (GRCm39)	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,727,129 (GRCm39)	G2411*	probably null	Het
Scn3a	A	T	2: 65,302,643 (GRCm39)	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,382,196 (GRCm39)	I784F	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Skint7	T	C	4: 111,837,627 (GRCm39)	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,738,343 (GRCm39)	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,848,966 (GRCm39)		probably null	Het
Spata7	A	T	12: 98,635,761 (GRCm39)	D527V	probably benign	Het
Srl	C	A	16: 4,300,633 (GRCm39)	D375Y	probably damaging	Het
Stk4	A	T	2: 163,925,608 (GRCm39)	K58*	probably null	Het
Svep1	T	G	4: 58,120,648 (GRCm39)	H795P	possibly damaging	Het
Trak2	T	A	1: 58,974,967 (GRCm39)	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,933,904 (GRCm39)	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,283,473 (GRCm39)	L52*	probably null	Het
Vmn2r108	A	T	17: 20,690,454 (GRCm39)	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,168,601 (GRCm39)	D55G	possibly damaging	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Zfp13	C	A	17: 23,796,035 (GRCm39)	E179*	probably null	Het
Zfp839	T	C	12: 110,834,610 (GRCm39)	S546P	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
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	127,120,804 (GRCm39)	missense	probably damaging	1.00
R8066:Srcap	UTSW	7	127,139,484 (GRCm39)	missense	possibly damaging	0.74
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
R9332:Srcap	UTSW	7	127,158,812 (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'- TGCCTGTTTCAGACTTAGGTC -3'
(R):5'- CAGGATTGCTGTCTGTGAAGC -3'

Sequencing Primer
(F):5'- AGACTTAGGTCCAGCTCTGTTGAC -3'
(R):5'- TGTCTGTGAAGCCGCCATAG -3'

Posted On

2016-06-06