Mutagenetix > Incidental Mutation

Incidental Mutation 'R7559:Srcap'

584951

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, B930091H02Rik, F630004O05Rik

MMRRC Submission

045653-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7559 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127111155-127160391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127129722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 515 (S515P)

Ref Sequence

ENSEMBL: ENSMUSP00000063817 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000066582
AA Change: S515P

SMART Domains

Protein: ENSMUSP00000063817
Gene: ENSMUSG00000053877
AA Change: S515P

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

unknown
Transcript: ENSMUST00000186672
AA Change: S535P

SMART Domains

Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: S535P

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: S535P

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: S535P

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: S535P

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: S535P

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: 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: S516P

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: S516P

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

unknown
Transcript: ENSMUST00000190390
AA Change: S535P

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: S535P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	A	5: 139,265,295 (GRCm39)	R206L	probably damaging	Het
Adcy3	A	G	12: 4,248,440 (GRCm39)	K501E	probably benign	Het
Agl	T	C	3: 116,545,764 (GRCm39)	D679G		Het
Ankrd10	A	T	8: 11,662,548 (GRCm39)	V395D	probably damaging	Het
Ano5	A	G	7: 51,224,636 (GRCm39)	I531V	probably damaging	Het
Apol9a	T	A	15: 77,288,761 (GRCm39)	H202L	possibly damaging	Het
Atp6v1c2	A	C	12: 17,351,215 (GRCm39)	I105M	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Coro1b	T	C	19: 4,200,220 (GRCm39)		probably null	Het
D930020B18Rik	A	G	10: 121,492,131 (GRCm39)		probably benign	Het
Dcst2	T	C	3: 89,276,021 (GRCm39)	F384S	possibly damaging	Het
Ddx39a	T	A	8: 84,447,595 (GRCm39)	F147I	possibly damaging	Het
Drosha	A	G	15: 12,842,508 (GRCm39)	E393G	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fam20c	G	T	5: 138,778,954 (GRCm39)	E287D	possibly damaging	Het
Flnc	T	A	6: 29,459,009 (GRCm39)	D2463E	probably damaging	Het
Flt4	A	T	11: 49,535,198 (GRCm39)	I1209F	possibly damaging	Het
Foxp1	T	C	6: 98,922,521 (GRCm39)	D437G	unknown	Het
Fras1	T	C	5: 96,888,713 (GRCm39)	V2753A	possibly damaging	Het
Ftsj3	T	C	11: 106,143,813 (GRCm39)	D277G	possibly damaging	Het
Gad1	T	C	2: 70,394,256 (GRCm39)		probably null	Het
Gal3st2c	A	G	1: 93,937,075 (GRCm39)	Y340C	probably damaging	Het
Gbp9	A	G	5: 105,232,975 (GRCm39)	F226L	probably damaging	Het
Gm11992	C	T	11: 9,002,747 (GRCm39)	P37S	possibly damaging	Het
Gm19668	G	T	10: 77,634,572 (GRCm39)	C132*	probably null	Het
Hdac3	A	T	18: 38,078,569 (GRCm39)	F139I	possibly damaging	Het
Hectd4	A	G	5: 121,453,573 (GRCm39)		probably null	Het
Helz	T	A	11: 107,491,104 (GRCm39)	S162T	possibly damaging	Het
Hspb6	C	A	7: 30,253,712 (GRCm39)	S75Y	probably damaging	Het
Il17rb	T	A	14: 29,719,000 (GRCm39)	I361F	probably damaging	Het
Iqsec3	A	T	6: 121,364,739 (GRCm39)	V850D	probably damaging	Het
Knl1	A	G	2: 118,924,487 (GRCm39)	E1840G	possibly damaging	Het
Lamc3	A	G	2: 31,812,380 (GRCm39)	K939R	probably benign	Het
Lmo7	C	T	14: 102,124,662 (GRCm39)	R496*	probably null	Het
Lsm14a	A	T	7: 34,052,826 (GRCm39)	C374*	probably null	Het
Luc7l	T	C	17: 26,474,089 (GRCm39)	L49P	probably damaging	Het
Mdga2	A	C	12: 66,520,003 (GRCm39)	C988G	probably damaging	Het
Mtf1	T	C	4: 124,713,999 (GRCm39)	V136A	probably damaging	Het
Myo7b	T	A	18: 32,116,413 (GRCm39)	I1016F	probably benign	Het
Nadsyn1	C	A	7: 143,361,804 (GRCm39)	A306S	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nr4a1	T	C	15: 101,168,780 (GRCm39)	V272A	probably damaging	Het
Opcml	A	T	9: 28,814,620 (GRCm39)	T291S	probably benign	Het
Or13a24	T	A	7: 140,154,356 (GRCm39)	C97S	probably damaging	Het
Or52u1	C	A	7: 104,237,087 (GRCm39)	H25Q	probably damaging	Het
Or56b1b	C	T	7: 108,164,763 (GRCm39)	A80T	probably damaging	Het
Osbp2	C	G	11: 3,662,493 (GRCm39)	K196N	probably damaging	Het
Otoa	T	C	7: 120,743,149 (GRCm39)	V792A	probably damaging	Het
Pcmtd1	A	G	1: 7,239,766 (GRCm39)	D245G	probably damaging	Het
Pcnx1	T	C	12: 82,039,896 (GRCm39)	V1428A	unknown	Het
Pik3r4	A	G	9: 105,555,352 (GRCm39)	H1103R	probably benign	Het
Pjvk	C	T	2: 76,486,154 (GRCm39)	H185Y	probably benign	Het
Pkd1l3	T	C	8: 110,351,072 (GRCm39)	V639A	probably benign	Het
Pklr	T	C	3: 89,050,365 (GRCm39)	S405P	probably damaging	Het
Pla2g12a	T	A	3: 129,672,569 (GRCm39)	Y68N	probably damaging	Het
Proz	A	G	8: 13,113,455 (GRCm39)	H92R	probably benign	Het
Sec23ip	G	T	7: 128,379,074 (GRCm39)	V844F	possibly damaging	Het
Sema3f	A	G	9: 107,561,777 (GRCm39)	V520A	possibly damaging	Het
Serpinb12	A	G	1: 106,881,453 (GRCm39)	I197V	probably damaging	Het
Sim2	A	T	16: 93,910,218 (GRCm39)	I207F	possibly damaging	Het
Slc15a2	C	T	16: 36,572,259 (GRCm39)	V702I	probably benign	Het
Slc35f4	T	C	14: 49,541,732 (GRCm39)	I341V	probably benign	Het
Spam1	A	G	6: 24,800,452 (GRCm39)	Y397C	probably damaging	Het
Spire1	A	T	18: 67,634,187 (GRCm39)	M417K	probably benign	Het
Tfrc	T	A	16: 32,440,235 (GRCm39)		probably null	Het
Topors	A	G	4: 40,261,401 (GRCm39)	S628P	unknown	Het
Trim71	T	C	9: 114,342,110 (GRCm39)	Y724C	probably damaging	Het
Ttn	C	T	2: 76,623,199 (GRCm39)	V15413I	probably damaging	Het
Vmn1r21	A	T	6: 57,821,227 (GRCm39)	N72K	probably damaging	Het
Vmn2r80	A	T	10: 79,030,459 (GRCm39)	M762L	probably benign	Het
Wdr62	A	G	7: 29,970,198 (GRCm39)	I203T	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
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'- CTTGCTTTGAAGGACAACTGG -3'
(R):5'- CTGGAGACTTTCAGCTGCTG -3'

Sequencing Primer
(F):5'- CTTGCTTTGAAGGACAACTGGAAAGG -3'
(R):5'- AATTTCTTTCTTGGGCCCTAGAG -3'

Posted On

2019-10-17