Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Smarcc1'

294531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smarcc1

Ensembl Gene

ENSMUSG00000032481

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

Synonyms

BAF155, SRG3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

110117708-110240178 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 110132126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088716] [ENSMUST00000098355] [ENSMUST00000197480] [ENSMUST00000197984] [ENSMUST00000199896]

AlphaFold

P97496

Predicted Effect

unknown
Transcript: ENSMUST00000088716
AA Change: T4A

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: T4A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.7e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	9.6e-35	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	2.5e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC
low complexity region	1075	1104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098355

SMART Domains

Protein: ENSMUSP00000095958
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	62	71	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000197480
AA Change: T4A

SMART Domains

Protein: ENSMUSP00000142629
Gene: ENSMUSG00000032481
AA Change: T4A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000197984
AA Change: T4A

SMART Domains

Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: T4A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	448	536	1.4e-35	PFAM
SANT	618	666	4.52e-12	SMART
low complexity region	710	717	N/A	INTRINSIC
low complexity region	723	734	N/A	INTRINSIC
low complexity region	768	781	N/A	INTRINSIC
low complexity region	830	839	N/A	INTRINSIC
low complexity region	866	885	N/A	INTRINSIC
coiled coil region	909	945	N/A	INTRINSIC
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000199896
AA Change: T4A

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: T4A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.5e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	1.4e-34	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	1.4e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200237

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, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Smarcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Smarcc1	APN	9	110221937	missense	probably damaging	1.00
IGL01152:Smarcc1	APN	9	110139625	missense	possibly damaging	0.89
IGL01353:Smarcc1	APN	9	110135666	missense	probably benign	0.07
IGL01401:Smarcc1	APN	9	110149965	missense	possibly damaging	0.52
IGL01483:Smarcc1	APN	9	110222060	nonsense	probably null
IGL01679:Smarcc1	APN	9	110213530	missense	probably damaging	1.00
IGL02498:Smarcc1	APN	9	110190934	missense	probably damaging	1.00
IGL02605:Smarcc1	APN	9	110222000	missense	possibly damaging	0.86
IGL03003:Smarcc1	APN	9	110206100	missense	probably damaging	0.97
IGL03284:Smarcc1	APN	9	110175074	missense	probably benign	0.30
R0116:Smarcc1	UTSW	9	110147104	missense	possibly damaging	0.71
R0403:Smarcc1	UTSW	9	110237808	splice site	probably null
R1436:Smarcc1	UTSW	9	110118640	unclassified	probably benign
R1583:Smarcc1	UTSW	9	110213617	missense	probably damaging	1.00
R1692:Smarcc1	UTSW	9	110174004	missense	possibly damaging	0.85
R1732:Smarcc1	UTSW	9	110185820	splice site	probably benign
R1833:Smarcc1	UTSW	9	110153811	missense	possibly damaging	0.71
R1881:Smarcc1	UTSW	9	110175099	missense	probably damaging	1.00
R2058:Smarcc1	UTSW	9	110118343	unclassified	probably benign
R2175:Smarcc1	UTSW	9	110164809	missense	possibly damaging	0.71
R2215:Smarcc1	UTSW	9	110237839	utr 3 prime	probably benign
R2904:Smarcc1	UTSW	9	110173975	missense	possibly damaging	0.80
R3899:Smarcc1	UTSW	9	110118518	unclassified	probably benign
R3900:Smarcc1	UTSW	9	110118518	unclassified	probably benign
R4012:Smarcc1	UTSW	9	110132205	missense	possibly damaging	0.96
R4091:Smarcc1	UTSW	9	110164829	missense	possibly damaging	0.84
R4356:Smarcc1	UTSW	9	110196256	missense	probably damaging	0.99
R4881:Smarcc1	UTSW	9	110135628	start gained	probably benign
R4993:Smarcc1	UTSW	9	110175061	missense	probably damaging	1.00
R5110:Smarcc1	UTSW	9	110197784	missense	possibly damaging	0.89
R5375:Smarcc1	UTSW	9	110190949	missense	probably damaging	0.99
R5655:Smarcc1	UTSW	9	110157344	missense	probably null	1.00
R5715:Smarcc1	UTSW	9	110196367	missense	possibly damaging	0.95
R5767:Smarcc1	UTSW	9	110132183	intron	probably benign
R5816:Smarcc1	UTSW	9	110197644	missense	possibly damaging	0.51
R6969:Smarcc1	UTSW	9	110196320	missense	probably damaging	1.00
R7068:Smarcc1	UTSW	9	110185884	missense	probably damaging	1.00
R7211:Smarcc1	UTSW	9	110150014	missense	probably damaging	0.97
R7558:Smarcc1	UTSW	9	110147116	missense	probably damaging	0.96
R7903:Smarcc1	UTSW	9	110204266	missense	probably benign	0.01
R8190:Smarcc1	UTSW	9	110202534	missense	probably benign
R8695:Smarcc1	UTSW	9	110173904	missense	probably damaging	0.98
R8842:Smarcc1	UTSW	9	110222131	missense	possibly damaging	0.60
R9024:Smarcc1	UTSW	9	110185933	missense	probably damaging	0.99
R9131:Smarcc1	UTSW	9	110135642	missense	possibly damaging	0.73
R9180:Smarcc1	UTSW	9	110135660	missense	probably damaging	1.00
R9279:Smarcc1	UTSW	9	110167724	missense	possibly damaging	0.69
R9352:Smarcc1	UTSW	9	110206152	missense	probably null	1.00
R9538:Smarcc1	UTSW	9	110132204	missense	probably benign	0.00
R9645:Smarcc1	UTSW	9	110157342	missense	probably damaging	1.00
T0722:Smarcc1	UTSW	9	110206085	missense	possibly damaging	0.86

Posted On

2015-04-16