Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02147:Smarca4'

281816

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 #

IGL02147

Quality Score

Status

Chromosome

Chromosomal Location

21527465-21615526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21546999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 175 (N175D)

Ref Sequence

ENSEMBL: ENSMUSP00000133922 (fasta)

Gene Model

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

AlphaFold

Q3TKT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034707
AA Change: N175D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034707
Gene: ENSMUSG00000032187
AA Change: N175D

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: N175D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096547
Gene: ENSMUSG00000032187
AA Change: N175D

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

probably damaging
Transcript: ENSMUST00000174008
AA Change: N175D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133922
Gene: ENSMUSG00000032187
AA Change: N175D

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	C	19: 24,042,327 (GRCm39)		noncoding transcript	Het
Acadsb	T	A	7: 131,027,610 (GRCm39)		probably benign	Het
Ambra1	A	G	2: 91,598,064 (GRCm39)	H75R	probably benign	Het
Arhgef28	T	A	13: 98,097,822 (GRCm39)	I931F	probably damaging	Het
Cdk5	T	C	5: 24,625,318 (GRCm39)	N165D	probably benign	Het
Col4a2	A	T	8: 11,458,140 (GRCm39)	Y272F	probably benign	Het
Csde1	T	A	3: 102,947,250 (GRCm39)	D67E	probably damaging	Het
Dhx34	T	C	7: 15,937,928 (GRCm39)	H724R	probably benign	Het
Dhx57	T	C	17: 80,567,752 (GRCm39)	D777G	possibly damaging	Het
Fat3	A	C	9: 15,907,281 (GRCm39)	V2907G	probably damaging	Het
Fst	T	C	13: 114,590,896 (GRCm39)	Y290C	probably damaging	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Igkv4-92	C	T	6: 68,732,236 (GRCm39)	S46N	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lgalsl2	T	A	7: 5,362,732 (GRCm39)	I121N	probably damaging	Het
Lmtk2	A	G	5: 144,093,754 (GRCm39)	M244V	possibly damaging	Het
Mcoln1	T	C	8: 3,558,379 (GRCm39)	F211S	probably benign	Het
Mib2	C	A	4: 155,742,144 (GRCm39)	R209L	probably benign	Het
Msx3	C	A	7: 139,628,798 (GRCm39)	V39L	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,672 (GRCm39)	F129S	probably damaging	Het
Nr3c2	A	G	8: 77,635,696 (GRCm39)	S266G	probably damaging	Het
Nup160	G	T	2: 90,534,285 (GRCm39)	L703F	probably benign	Het
Or10c1	T	A	17: 37,521,877 (GRCm39)	Y289F	probably damaging	Het
Or5t5	A	G	2: 86,616,494 (GRCm39)	N140S	probably benign	Het
Pcyt1a	T	A	16: 32,280,916 (GRCm39)	N105K	probably damaging	Het
Pdhx	A	G	2: 102,860,686 (GRCm39)		probably benign	Het
Qpct	T	C	17: 79,378,145 (GRCm39)	V105A	probably damaging	Het
Ros1	A	C	10: 51,996,991 (GRCm39)	F1227C	probably damaging	Het
Rrp12	A	T	19: 41,874,620 (GRCm39)	V342E	probably damaging	Het
Sart3	A	G	5: 113,901,004 (GRCm39)		probably benign	Het
Slc6a18	T	A	13: 73,816,281 (GRCm39)	K366M	probably damaging	Het
Sox14	T	C	9: 99,757,598 (GRCm39)	K47R	probably damaging	Het
Trcg1	A	T	9: 57,153,132 (GRCm39)	I592F	probably benign	Het
Ush2a	T	C	1: 188,596,900 (GRCm39)	M3880T	probably benign	Het
Usp20	T	C	2: 30,896,413 (GRCm39)	F172S	probably damaging	Het
Vmn2r4	C	T	3: 64,305,782 (GRCm39)		probably benign	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
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
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

2015-04-16