Mutagenetix > Incidental Mutation

Incidental Mutation 'R7535:Smarca4'

583522

Institutional Source

Beutler Lab

Gene Symbol

Smarca4

Ensembl Gene

ENSMUSG00000032187

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Synonyms

SW1/SNF, Brg1, SNF2beta, b2b692Clo, b2b508.1Clo

MMRRC Submission

045607-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21527465-21615526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21558921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 651 (V651I)

Ref Sequence

ENSEMBL: ENSMUSP00000096547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034707] [ENSMUST00000098948] [ENSMUST00000174008]

AlphaFold

Q3TKT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034707
AA Change: V651I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034707
Gene: ENSMUSG00000032187
AA Change: V651I

Domain	Start	End	E-Value	Type
low complexity region	6	58	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
QLQ	170	206	3.98e-14	SMART
low complexity region	221	247	N/A	INTRINSIC
low complexity region	252	289	N/A	INTRINSIC
low complexity region	304	330	N/A	INTRINSIC
low complexity region	407	418	N/A	INTRINSIC
HSA	460	532	2e-27	SMART
coiled coil region	563	595	N/A	INTRINSIC
BRK	612	656	5.17e-21	SMART
low complexity region	657	672	N/A	INTRINSIC
low complexity region	691	702	N/A	INTRINSIC
DEXDc	750	942	5.17e-38	SMART
Blast:DEXDc	953	985	7e-10	BLAST
low complexity region	1019	1034	N/A	INTRINSIC
HELICc	1110	1194	7.27e-24	SMART
low complexity region	1252	1267	N/A	INTRINSIC
SnAC	1288	1356	2.8e-29	SMART
low complexity region	1360	1385	N/A	INTRINSIC
low complexity region	1388	1398	N/A	INTRINSIC
BROMO	1422	1533	4.19e-42	SMART
low complexity region	1534	1557	N/A	INTRINSIC
low complexity region	1578	1588	N/A	INTRINSIC
low complexity region	1594	1614	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098948
AA Change: V651I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096547
Gene: ENSMUSG00000032187
AA Change: V651I

Domain	Start	End	E-Value	Type
low complexity region	6	58	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
QLQ	170	206	3.98e-14	SMART
low complexity region	221	247	N/A	INTRINSIC
low complexity region	252	289	N/A	INTRINSIC
low complexity region	304	330	N/A	INTRINSIC
low complexity region	407	418	N/A	INTRINSIC
HSA	460	532	2e-27	SMART
coiled coil region	563	595	N/A	INTRINSIC
BRK	612	656	5.17e-21	SMART
low complexity region	657	672	N/A	INTRINSIC
low complexity region	691	702	N/A	INTRINSIC
DEXDc	750	942	5.17e-38	SMART
Blast:DEXDc	953	985	7e-10	BLAST
low complexity region	1019	1034	N/A	INTRINSIC
HELICc	1110	1194	7.27e-24	SMART
low complexity region	1252	1267	N/A	INTRINSIC
SnAC	1288	1356	2.8e-29	SMART
low complexity region	1363	1388	N/A	INTRINSIC
low complexity region	1391	1401	N/A	INTRINSIC
BROMO	1425	1536	4.19e-42	SMART
low complexity region	1537	1560	N/A	INTRINSIC
low complexity region	1581	1591	N/A	INTRINSIC
low complexity region	1597	1617	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133535
Gene: ENSMUSG00000032187
AA Change: V455I

Domain	Start	End	E-Value	Type
low complexity region	26	52	N/A	INTRINSIC
low complexity region	57	94	N/A	INTRINSIC
low complexity region	109	135	N/A	INTRINSIC
low complexity region	212	223	N/A	INTRINSIC
HSA	265	337	2e-27	SMART
coiled coil region	367	399	N/A	INTRINSIC
BRK	417	461	5.17e-21	SMART
low complexity region	462	477	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
DEXDc	555	747	5.17e-38	SMART
Blast:DEXDc	758	790	6e-10	BLAST
low complexity region	824	839	N/A	INTRINSIC
HELICc	915	999	7.27e-24	SMART
low complexity region	1088	1105	N/A	INTRINSIC
SnAC	1126	1194	2.8e-29	SMART
low complexity region	1201	1226	N/A	INTRINSIC
low complexity region	1229	1239	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174008
AA Change: V651I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133922
Gene: ENSMUSG00000032187
AA Change: V651I

Domain	Start	End	E-Value	Type
low complexity region	6	58	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
QLQ	170	206	3.98e-14	SMART
low complexity region	221	247	N/A	INTRINSIC
low complexity region	252	289	N/A	INTRINSIC
low complexity region	304	330	N/A	INTRINSIC
low complexity region	407	418	N/A	INTRINSIC
HSA	460	532	2e-27	SMART
coiled coil region	563	595	N/A	INTRINSIC
BRK	612	656	5.17e-21	SMART
low complexity region	657	672	N/A	INTRINSIC
low complexity region	691	702	N/A	INTRINSIC
DEXDc	750	942	5.17e-38	SMART
Blast:DEXDc	953	985	7e-10	BLAST
low complexity region	1019	1034	N/A	INTRINSIC
HELICc	1110	1194	7.27e-24	SMART
low complexity region	1252	1267	N/A	INTRINSIC
SnAC	1288	1356	2.8e-29	SMART
low complexity region	1360	1385	N/A	INTRINSIC
low complexity region	1388	1398	N/A	INTRINSIC
BROMO	1422	1532	1.36e-41	SMART
low complexity region	1533	1556	N/A	INTRINSIC
low complexity region	1577	1587	N/A	INTRINSIC
low complexity region	1593	1613	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,837,463 (GRCm39)	L449Q	probably benign	Het
Agtpbp1	T	C	13: 59,652,067 (GRCm39)	T415A	probably benign	Het
Akt3	A	T	1: 176,924,600 (GRCm39)	V165D	probably damaging	Het
Cbr2	T	A	11: 120,620,628 (GRCm39)	I219F	probably damaging	Het
Cdh20	T	A	1: 104,902,768 (GRCm39)	D486E	probably damaging	Het
Cenpe	A	G	3: 134,949,523 (GRCm39)	S103G	possibly damaging	Het
Chd4	T	A	6: 125,105,836 (GRCm39)	S1818T	probably benign	Het
Chst5	T	C	8: 112,616,795 (GRCm39)	D275G	probably damaging	Het
Clca3a1	A	G	3: 144,724,328 (GRCm39)	I244T	probably damaging	Het
Cyp2c54	A	G	19: 40,058,716 (GRCm39)	Y239H	probably benign	Het
Czib	T	G	4: 107,752,097 (GRCm39)	S159A	probably benign	Het
Ddx25	A	G	9: 35,454,951 (GRCm39)	F446L	possibly damaging	Het
Dgkb	T	C	12: 38,186,646 (GRCm39)	L265P	probably damaging	Het
Dis3	A	G	14: 99,327,415 (GRCm39)	S363P	probably benign	Het
Disp3	T	C	4: 148,327,323 (GRCm39)	E1187G	probably damaging	Het
Dop1b	G	A	16: 93,603,249 (GRCm39)	G2061R	probably damaging	Het
Dsp	T	C	13: 38,376,765 (GRCm39)	S1517P	probably benign	Het
Epg5	T	A	18: 78,076,141 (GRCm39)	V2513E	probably benign	Het
Fryl	T	A	5: 73,255,539 (GRCm39)	T831S	probably benign	Het
Gm6309	A	T	5: 146,105,100 (GRCm39)	V271D	probably damaging	Het
H2-M2	G	T	17: 37,793,528 (GRCm39)	S159R	probably benign	Het
Helq	A	G	5: 100,937,999 (GRCm39)		probably null	Het
Herc1	G	C	9: 66,382,135 (GRCm39)	D3621H	probably damaging	Het
Hsd11b2	A	T	8: 106,245,755 (GRCm39)	I87F	probably damaging	Het
Ice2	A	G	9: 69,339,360 (GRCm39)	N959S	probably damaging	Het
Ifi47	T	A	11: 48,987,452 (GRCm39)	D406E	probably damaging	Het
Ifit3	T	G	19: 34,565,280 (GRCm39)	S275R	probably damaging	Het
Insl5	C	A	4: 102,875,395 (GRCm39)	K118N	probably damaging	Het
Irf7	A	T	7: 140,844,550 (GRCm39)	F158I	probably benign	Het
Kat2b	T	C	17: 53,931,431 (GRCm39)	L143P	probably damaging	Het
Klk1b1	A	T	7: 43,619,746 (GRCm39)	N102Y	probably damaging	Het
Krt13	C	T	11: 100,008,824 (GRCm39)	G410S	unknown	Het
Larp6	A	T	9: 60,631,437 (GRCm39)	T70S	probably benign	Het
Lrrc37a	T	C	11: 103,392,683 (GRCm39)	E914G	possibly damaging	Het
Mindy4	T	C	6: 55,274,738 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myom2	A	G	8: 15,167,679 (GRCm39)	Y1088C	probably damaging	Het
Mysm1	T	C	4: 94,840,452 (GRCm39)	N655D	probably benign	Het
Nbas	T	A	12: 13,329,390 (GRCm39)	S112T	probably damaging	Het
Neb	A	G	2: 52,055,115 (GRCm39)		probably null	Het
Noxred1	G	A	12: 87,280,206 (GRCm39)	A42V	probably benign	Het
Olfm5	G	A	7: 103,803,444 (GRCm39)	P340S	possibly damaging	Het
Or11h4	G	A	14: 50,974,122 (GRCm39)	P166S	probably benign	Het
Or2l5	T	C	16: 19,333,544 (GRCm39)	T281A	probably damaging	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Or5m8	T	A	2: 85,822,245 (GRCm39)	V28E	probably benign	Het
Or9i1b	A	G	19: 13,896,449 (GRCm39)	K22E	probably benign	Het
Pccb	A	T	9: 100,876,615 (GRCm39)		probably null	Het
Pnn	T	A	12: 59,118,923 (GRCm39)	V502E	probably benign	Het
Pole2	A	T	12: 69,269,203 (GRCm39)	I98K	probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rasgrp4	A	G	7: 28,838,484 (GRCm39)	K111E	probably benign	Het
Rbbp6	G	A	7: 122,589,366 (GRCm39)	M351I	probably benign	Het
Rgs19	T	G	2: 181,333,101 (GRCm39)	H53P	probably damaging	Het
Rin1	A	T	19: 5,102,564 (GRCm39)	T369S	probably benign	Het
Rnaset2b	G	A	17: 7,259,138 (GRCm39)	E135K	possibly damaging	Het
Rprd2	G	A	3: 95,683,899 (GRCm39)	P379S	probably damaging	Het
Sbno1	A	G	5: 124,551,342 (GRCm39)	L47P	possibly damaging	Het
Slamf6	T	A	1: 171,747,325 (GRCm39)	L29Q	unknown	Het
Slc16a14	T	C	1: 84,890,843 (GRCm39)	Y154C	probably damaging	Het
Slc22a29	A	G	19: 8,147,342 (GRCm39)	F340S	probably damaging	Het
Slc6a4	T	G	11: 76,905,976 (GRCm39)	I259S	possibly damaging	Het
Susd5	C	T	9: 113,893,108 (GRCm39)	A62V	possibly damaging	Het
Syt1	T	A	10: 108,463,283 (GRCm39)		probably null	Het
Taf10	T	C	7: 105,390,117 (GRCm39)	I218T	probably benign	Het
Tas1r1	C	A	4: 152,112,819 (GRCm39)	V745F	probably benign	Het
Tas2r125	C	A	6: 132,887,287 (GRCm39)	T225K	probably damaging	Het
Tcp11l2	G	T	10: 84,430,523 (GRCm39)	R216L	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,624 (GRCm39)	Q1184*	probably null	Het
Treml2	T	A	17: 48,609,847 (GRCm39)	V93D	probably damaging	Het
Trim11	G	A	11: 58,872,891 (GRCm39)	E192K	probably damaging	Het
Trim43a	A	G	9: 88,470,201 (GRCm39)	K336E	probably damaging	Het
Tspan33	T	A	6: 29,717,588 (GRCm39)	I268N	possibly damaging	Het
Tstd2	C	T	4: 46,116,960 (GRCm39)	C458Y	probably damaging	Het
Ttc6	A	G	12: 57,623,305 (GRCm39)	S235G	probably benign	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Usp36	A	T	11: 118,152,872 (GRCm39)	S1084T	possibly damaging	Het
Vps39	T	A	2: 120,155,176 (GRCm39)	N550I	probably damaging	Het
Wdr47	A	G	3: 108,537,027 (GRCm39)	I572V	probably benign	Het
Zfp112	A	T	7: 23,826,135 (GRCm39)	Y705F	probably damaging	Het
Zfp282	A	G	6: 47,881,878 (GRCm39)	T522A	probably benign	Het
Zfp292	T	C	4: 34,811,487 (GRCm39)	D524G	probably benign	Het
Zfp90	A	T	8: 107,150,900 (GRCm39)	K204N	possibly damaging	Het
Zmym2	T	C	14: 57,194,536 (GRCm39)	S1265P	probably damaging	Het

Other mutations in Smarca4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Smarca4	APN	9	21,590,369 (GRCm39)	missense	probably benign	0.30
IGL01694:Smarca4	APN	9	21,577,166 (GRCm39)	missense	probably damaging	1.00
IGL02147:Smarca4	APN	9	21,546,999 (GRCm39)	missense	probably damaging	0.98
IGL02417:Smarca4	APN	9	21,612,386 (GRCm39)	missense	probably damaging	1.00
IGL02421:Smarca4	APN	9	21,550,535 (GRCm39)	missense	probably damaging	1.00
IGL02550:Smarca4	APN	9	21,597,418 (GRCm39)	missense	probably benign	0.25
IGL02794:Smarca4	APN	9	21,584,638 (GRCm39)	splice site	probably benign
IGL03030:Smarca4	APN	9	21,547,132 (GRCm39)	missense	probably benign	0.14
IGL03037:Smarca4	APN	9	21,544,231 (GRCm39)	unclassified	probably benign
IGL03069:Smarca4	APN	9	21,547,132 (GRCm39)	missense	probably benign	0.14
IGL03355:Smarca4	APN	9	21,547,132 (GRCm39)	missense	probably benign	0.14
R0123:Smarca4	UTSW	9	21,548,620 (GRCm39)	missense	probably damaging	1.00
R0134:Smarca4	UTSW	9	21,548,620 (GRCm39)	missense	probably damaging	1.00
R0230:Smarca4	UTSW	9	21,612,168 (GRCm39)	missense	probably damaging	0.99
R0269:Smarca4	UTSW	9	21,547,497 (GRCm39)	missense	probably benign	0.09
R0631:Smarca4	UTSW	9	21,570,280 (GRCm39)	splice site	probably benign
R0665:Smarca4	UTSW	9	21,612,239 (GRCm39)	small deletion	probably benign
R0726:Smarca4	UTSW	9	21,611,435 (GRCm39)	critical splice donor site	probably null
R0801:Smarca4	UTSW	9	21,553,850 (GRCm39)	missense	possibly damaging	0.81
R0918:Smarca4	UTSW	9	21,547,511 (GRCm39)	missense	probably benign	0.16
R1411:Smarca4	UTSW	9	21,570,251 (GRCm39)	missense	probably damaging	1.00
R1604:Smarca4	UTSW	9	21,612,239 (GRCm39)	small deletion	probably benign
R1768:Smarca4	UTSW	9	21,612,479 (GRCm39)	missense	possibly damaging	0.56
R2004:Smarca4	UTSW	9	21,588,776 (GRCm39)	missense	probably damaging	1.00
R2031:Smarca4	UTSW	9	21,597,358 (GRCm39)	missense	possibly damaging	0.68
R2211:Smarca4	UTSW	9	21,597,325 (GRCm39)	missense	probably damaging	1.00
R2512:Smarca4	UTSW	9	21,546,994 (GRCm39)	missense	possibly damaging	0.95
R2875:Smarca4	UTSW	9	21,553,876 (GRCm39)	missense	possibly damaging	0.55
R3786:Smarca4	UTSW	9	21,583,355 (GRCm39)	missense	possibly damaging	0.94
R4829:Smarca4	UTSW	9	21,550,623 (GRCm39)	missense	probably damaging	0.97
R5084:Smarca4	UTSW	9	21,572,059 (GRCm39)	missense	probably damaging	1.00
R5222:Smarca4	UTSW	9	21,567,002 (GRCm39)	missense	probably benign	0.01
R5785:Smarca4	UTSW	9	21,597,322 (GRCm39)	missense	probably damaging	0.99
R5844:Smarca4	UTSW	9	21,589,238 (GRCm39)	intron	probably benign
R5964:Smarca4	UTSW	9	21,558,726 (GRCm39)	missense	probably benign	0.00
R6001:Smarca4	UTSW	9	21,544,205 (GRCm39)	unclassified	probably benign
R6072:Smarca4	UTSW	9	21,611,417 (GRCm39)	missense	probably damaging	1.00
R6254:Smarca4	UTSW	9	21,611,173 (GRCm39)	missense	probably damaging	1.00
R6320:Smarca4	UTSW	9	21,548,671 (GRCm39)	missense	probably damaging	1.00
R6353:Smarca4	UTSW	9	21,590,445 (GRCm39)	critical splice donor site	probably null
R6461:Smarca4	UTSW	9	21,590,316 (GRCm39)	missense	probably damaging	1.00
R6886:Smarca4	UTSW	9	21,570,127 (GRCm39)	missense	probably damaging	1.00
R7098:Smarca4	UTSW	9	21,546,116 (GRCm39)	missense	probably benign	0.10
R7253:Smarca4	UTSW	9	21,570,256 (GRCm39)	missense	probably benign	0.01
R7307:Smarca4	UTSW	9	21,550,096 (GRCm39)	missense	probably damaging	1.00
R7382:Smarca4	UTSW	9	21,570,229 (GRCm39)	missense	probably damaging	0.98
R7445:Smarca4	UTSW	9	21,597,543 (GRCm39)	missense	probably damaging	1.00
R7573:Smarca4	UTSW	9	21,550,371 (GRCm39)	splice site	probably null
R7644:Smarca4	UTSW	9	21,566,950 (GRCm39)	missense	probably benign	0.00
R7734:Smarca4	UTSW	9	21,578,658 (GRCm39)	missense	possibly damaging	0.65
R7833:Smarca4	UTSW	9	21,558,655 (GRCm39)	missense	possibly damaging	0.86
R8085:Smarca4	UTSW	9	21,570,108 (GRCm39)	splice site	probably null
R8119:Smarca4	UTSW	9	21,558,922 (GRCm39)	missense	possibly damaging	0.61
R8320:Smarca4	UTSW	9	21,588,798 (GRCm39)	missense	probably benign	0.10
R8445:Smarca4	UTSW	9	21,612,239 (GRCm39)	small deletion	probably benign
R8493:Smarca4	UTSW	9	21,570,144 (GRCm39)	missense	probably damaging	1.00
R8748:Smarca4	UTSW	9	21,546,164 (GRCm39)	missense	possibly damaging	0.85
R8788:Smarca4	UTSW	9	21,550,024 (GRCm39)	missense	probably damaging	1.00
R8817:Smarca4	UTSW	9	21,547,497 (GRCm39)	missense	probably benign	0.04
R9241:Smarca4	UTSW	9	21,550,604 (GRCm39)	missense	possibly damaging	0.72
R9446:Smarca4	UTSW	9	21,547,155 (GRCm39)	missense	unknown
R9570:Smarca4	UTSW	9	21,580,849 (GRCm39)	missense	probably damaging	1.00
R9727:Smarca4	UTSW	9	21,611,160 (GRCm39)	missense	probably damaging	1.00
R9801:Smarca4	UTSW	9	21,586,397 (GRCm39)	missense	probably damaging	1.00
Z1176:Smarca4	UTSW	9	21,614,253 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTGGCTTGAAATGAACC -3'
(R):5'- GGATTGCCCTGAATGGAAAC -3'

Sequencing Primer
(F):5'- ACCCAGGGTGAGTTAAATGCTTCC -3'
(R):5'- GTCCACAAGTTAGCAAAGCTCTG -3'

Posted On

2019-10-17