Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Smarca4'

408744

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

21527465-21615526 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 21544231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3TKT4

Predicted Effect

unknown
Transcript: ENSMUST00000034707
AA Change: S35P

SMART Domains

Protein: ENSMUSP00000034707
Gene: ENSMUSG00000032187
AA Change: S35P

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

unknown
Transcript: ENSMUST00000098948
AA Change: S35P

SMART Domains

Protein: ENSMUSP00000096547
Gene: ENSMUSG00000032187
AA Change: S35P

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

probably benign
Transcript: ENSMUST00000172996

SMART Domains

Protein: ENSMUSP00000133535
Gene: ENSMUSG00000032187

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

unknown
Transcript: ENSMUST00000174008
AA Change: S35P

SMART Domains

Protein: ENSMUSP00000133922
Gene: ENSMUSG00000032187
AA Change: S35P

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

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	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
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
R7535:Smarca4	UTSW	9	21,558,921 (GRCm39)	missense	possibly damaging	0.82
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

Posted On

2016-08-02