Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02338:Smarca5'

288972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smarca5

Ensembl Gene

ENSMUSG00000031715

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5

Synonyms

D030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02338

Quality Score

Status

Chromosome

Chromosomal Location

80698507-80739497 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 80719570 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043359]

Predicted Effect

probably benign
Transcript: ENSMUST00000043359

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715

Domain	Start	End	E-Value	Type
low complexity region	2	53	N/A	INTRINSIC
Pfam:DBINO	65	112	1.1e-4	PFAM
low complexity region	145	156	N/A	INTRINSIC
DEXDc	175	367	3.9e-46	SMART
Blast:DEXDc	386	421	6e-11	BLAST
HELICc	512	596	6.2e-28	SMART
low complexity region	756	768	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
SANT	840	889	2.3e-7	SMART
SANT	942	1006	3e-7	SMART
low complexity region	1008	1024	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140110

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. 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 protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	A	4: 133,062,549	C367Y	possibly damaging	Het
AI182371	T	A	2: 35,085,716	I279L	probably benign	Het
Ambp	A	T	4: 63,143,697	C332S	probably damaging	Het
App	T	C	16: 85,173,519	T14A	probably benign	Het
Asap1	A	T	15: 64,123,670		probably null	Het
Aurka	T	C	2: 172,359,858	R242G	probably benign	Het
BC034090	G	A	1: 155,217,471	P747L	probably damaging	Het
Bcl6b	T	C	11: 70,229,092	D23G	probably damaging	Het
Cabp2	A	C	19: 4,084,154	E42A	possibly damaging	Het
Ccdc14	G	A	16: 34,721,803	S557N	probably benign	Het
Ccdc146	G	T	5: 21,319,606		probably benign	Het
Cenpf	T	A	1: 189,680,418	Q216L	probably damaging	Het
Ces1b	G	A	8: 93,057,047	P515L	possibly damaging	Het
Col6a5	A	T	9: 105,878,630	N2198K	probably damaging	Het
Csmd2	A	G	4: 128,395,066	S1133G	possibly damaging	Het
Cspg5	G	A	9: 110,256,267	R502H	probably benign	Het
Cyp2g1	A	G	7: 26,814,804		probably benign	Het
Dnajc27	A	G	12: 4,096,229	Y86C	probably damaging	Het
Dnm1	T	C	2: 32,312,771	D715G	probably damaging	Het
Dock1	G	T	7: 135,133,075	L1317F	possibly damaging	Het
Fanci	T	A	7: 79,433,531	Y727*	probably null	Het
Fbxw20	T	A	9: 109,225,978	T168S	probably benign	Het
Folh1	A	T	7: 86,736,515		probably benign	Het
Gas7	A	T	11: 67,682,731	S379C	probably damaging	Het
Gbp2b	A	G	3: 142,604,226	E259G	probably benign	Het
Gm8325	T	C	3: 60,877,384		noncoding transcript	Het
Gm9268	T	C	7: 43,047,736	I739T	probably damaging	Het
Gpr75	A	T	11: 30,891,730	T212S	probably benign	Het
Itgb4	A	G	11: 116,007,969	T1711A	probably damaging	Het
Ly75	T	C	2: 60,354,452	S453G	probably benign	Het
Maneal	A	G	4: 124,860,483		probably benign	Het
Marco	A	T	1: 120,494,779	I58N	possibly damaging	Het
Mtcl1	A	G	17: 66,379,970	I647T	probably damaging	Het
Mtfr1l	A	T	4: 134,530,743	V56D	probably damaging	Het
Npy1r	G	A	8: 66,704,302	V125I	probably damaging	Het
Olfr348	C	T	2: 36,786,545	Q7*	probably null	Het
Olfr659	T	C	7: 104,671,681		probably benign	Het
Olfr843	A	G	9: 19,248,664	L245P	probably damaging	Het
Osmr	A	T	15: 6,837,729	L362*	probably null	Het
Pdlim2	T	C	14: 70,174,457	D42G	probably damaging	Het
Plcb4	T	A	2: 136,000,180	I89N	possibly damaging	Het
Prrc2b	T	A	2: 32,214,035	M1175K	probably benign	Het
Pzp	T	A	6: 128,486,170	N1423I	probably benign	Het
Retnla	G	A	16: 48,844,198	C105Y	probably damaging	Het
Samd8	T	A	14: 21,775,476	S167T	possibly damaging	Het
Scg2	A	G	1: 79,436,493	M171T	possibly damaging	Het
Slc30a5	A	G	13: 100,803,433	V658A	probably damaging	Het
Slc41a2	T	C	10: 83,316,591	R7G	possibly damaging	Het
Slc44a2	A	G	9: 21,347,042	T500A	probably damaging	Het
Slc44a4	G	T	17: 34,923,810	G396V	possibly damaging	Het
St8sia6	T	A	2: 13,793,345	R34W	probably damaging	Het
Stk-ps2	T	A	1: 46,030,177		noncoding transcript	Het
Stn1	T	C	19: 47,513,890	Y235C	probably damaging	Het
Tbx15	A	G	3: 99,352,484	Y557C	probably damaging	Het
Tgfbr1	G	A	4: 47,393,490		probably null	Het
Thsd7b	G	T	1: 129,595,771	V181L	probably damaging	Het
Tmpo	G	A	10: 91,163,242	R228C	probably benign	Het
Trpm4	T	G	7: 45,326,998	R51S	probably damaging	Het
Vmn1r91	A	T	7: 20,101,746	T197S	probably damaging	Het
Xrn1	A	G	9: 95,977,827	D424G	probably benign	Het
Yap1	A	G	9: 7,962,281		probably null	Het
Zer1	T	C	2: 30,113,393	D4G	probably damaging	Het
Zfp462	A	T	4: 55,010,292	I753F	possibly damaging	Het

Other mutations in Smarca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Smarca5	APN	8	80714041	missense	probably benign	0.10
IGL01138:Smarca5	APN	8	80701076	missense	possibly damaging	0.87
IGL01290:Smarca5	APN	8	80727648	missense	probably benign
IGL03212:Smarca5	APN	8	80711781	missense	possibly damaging	0.47
IGL03216:Smarca5	APN	8	80719658	missense	probably damaging	1.00
Cipher	UTSW	8	80719652	missense	probably damaging	1.00
Codebook	UTSW	8	80733707	missense	probably benign
Codex	UTSW	8	80710563	missense	probably damaging	0.99
R0254:Smarca5	UTSW	8	80704700	missense	probably benign	0.05
R0374:Smarca5	UTSW	8	80736731	missense	probably benign	0.30
R0625:Smarca5	UTSW	8	80720686	critical splice donor site	probably null
R1065:Smarca5	UTSW	8	80704714	missense	probably damaging	1.00
R1164:Smarca5	UTSW	8	80710631	missense	probably damaging	1.00
R1709:Smarca5	UTSW	8	80709220	nonsense	probably null
R2102:Smarca5	UTSW	8	80704675	missense	probably damaging	1.00
R3831:Smarca5	UTSW	8	80728494	missense	probably damaging	0.99
R4625:Smarca5	UTSW	8	80710563	missense	probably damaging	0.99
R4750:Smarca5	UTSW	8	80733707	missense	probably benign
R4822:Smarca5	UTSW	8	80708680	splice site	probably null
R4889:Smarca5	UTSW	8	80704697	missense	possibly damaging	0.95
R5756:Smarca5	UTSW	8	80710604	missense	probably benign
R6120:Smarca5	UTSW	8	80711743	missense	probably damaging	0.98
R6582:Smarca5	UTSW	8	80719652	missense	probably damaging	1.00
R6939:Smarca5	UTSW	8	80705320	missense	possibly damaging	0.63
R6972:Smarca5	UTSW	8	80704751	missense	probably damaging	1.00
R6973:Smarca5	UTSW	8	80704751	missense	probably damaging	1.00
R7027:Smarca5	UTSW	8	80736726	missense	probably benign	0.07
R7376:Smarca5	UTSW	8	80726051	missense	probably damaging	1.00
R7514:Smarca5	UTSW	8	80717534	missense	probably damaging	1.00
R8031:Smarca5	UTSW	8	80704682	missense	probably damaging	1.00

Posted On

2015-04-16