Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03284:Smarcc1'

415658

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, msp3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03284

Quality Score

Status

Chromosome

Chromosomal Location

109961129-110069773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110004142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 399 (V399I)

Ref Sequence

ENSEMBL: ENSMUSP00000142611 (fasta)

Gene Model

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

AlphaFold

P97496

Predicted Effect

probably benign
Transcript: ENSMUST00000088716
AA Change: V399I

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: V399I

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: ENSMUST00000197480
AA Change: V399I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142629
Gene: ENSMUSG00000032481
AA Change: V399I

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

probably benign
Transcript: ENSMUST00000197984
AA Change: V399I

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: V399I

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

probably benign
Transcript: ENSMUST00000199896
AA Change: V399I

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: V399I

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,354 (GRCm39)		probably benign	Het
Atxn7l3b	T	C	10: 112,764,431 (GRCm39)	D66G	probably benign	Het
Dmac2	T	C	7: 25,321,851 (GRCm39)		probably null	Het
Ephb2	A	G	4: 136,388,827 (GRCm39)	M590T	probably damaging	Het
Fbxo41	C	T	6: 85,456,747 (GRCm39)	R474H	probably damaging	Het
Fcgbp	G	T	7: 27,784,857 (GRCm39)	A306S	possibly damaging	Het
Hapstr1	A	G	16: 8,673,786 (GRCm39)	I238V	possibly damaging	Het
Hmg20a	A	G	9: 56,388,901 (GRCm39)	D156G	probably benign	Het
Mast4	A	G	13: 102,887,905 (GRCm39)	V1168A	probably damaging	Het
Oog2	A	G	4: 143,923,177 (GRCm39)		probably benign	Het
Pate12	T	A	9: 36,344,759 (GRCm39)	C96S	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,914 (GRCm39)		probably benign	Het
Psmd6	A	T	14: 14,112,546 (GRCm38)	N351K	probably benign	Het
Ralgps1	T	C	2: 33,036,577 (GRCm39)		probably benign	Het
Rbl1	C	T	2: 157,035,989 (GRCm39)		probably benign	Het
Srek1	C	A	13: 103,897,045 (GRCm39)	V99F	probably damaging	Het
Styxl1	A	G	5: 135,785,949 (GRCm39)	V32A	possibly damaging	Het
Tnn	C	T	1: 159,953,022 (GRCm39)	V673I	probably benign	Het
Vmn2r107	T	A	17: 20,577,173 (GRCm39)	D390E	probably benign	Het

Other mutations in Smarcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Smarcc1	APN	9	110,051,005 (GRCm39)	missense	probably damaging	1.00
IGL01152:Smarcc1	APN	9	109,968,693 (GRCm39)	missense	possibly damaging	0.89
IGL01353:Smarcc1	APN	9	109,964,734 (GRCm39)	missense	probably benign	0.07
IGL01401:Smarcc1	APN	9	109,979,033 (GRCm39)	missense	possibly damaging	0.52
IGL01483:Smarcc1	APN	9	110,051,128 (GRCm39)	nonsense	probably null
IGL01679:Smarcc1	APN	9	110,042,598 (GRCm39)	missense	probably damaging	1.00
IGL02458:Smarcc1	APN	9	109,961,194 (GRCm39)	intron	probably benign
IGL02498:Smarcc1	APN	9	110,020,002 (GRCm39)	missense	probably damaging	1.00
IGL02605:Smarcc1	APN	9	110,051,068 (GRCm39)	missense	possibly damaging	0.86
IGL03003:Smarcc1	APN	9	110,035,168 (GRCm39)	missense	probably damaging	0.97
R0116:Smarcc1	UTSW	9	109,976,172 (GRCm39)	missense	possibly damaging	0.71
R0403:Smarcc1	UTSW	9	110,066,876 (GRCm39)	splice site	probably null
R1436:Smarcc1	UTSW	9	109,947,708 (GRCm39)	unclassified	probably benign
R1583:Smarcc1	UTSW	9	110,042,685 (GRCm39)	missense	probably damaging	1.00
R1692:Smarcc1	UTSW	9	110,003,072 (GRCm39)	missense	possibly damaging	0.85
R1732:Smarcc1	UTSW	9	110,014,888 (GRCm39)	splice site	probably benign
R1833:Smarcc1	UTSW	9	109,982,879 (GRCm39)	missense	possibly damaging	0.71
R1881:Smarcc1	UTSW	9	110,004,167 (GRCm39)	missense	probably damaging	1.00
R2058:Smarcc1	UTSW	9	109,947,411 (GRCm39)	unclassified	probably benign
R2175:Smarcc1	UTSW	9	109,993,877 (GRCm39)	missense	possibly damaging	0.71
R2215:Smarcc1	UTSW	9	110,066,907 (GRCm39)	utr 3 prime	probably benign
R2904:Smarcc1	UTSW	9	110,003,043 (GRCm39)	missense	possibly damaging	0.80
R3899:Smarcc1	UTSW	9	109,947,586 (GRCm39)	unclassified	probably benign
R3900:Smarcc1	UTSW	9	109,947,586 (GRCm39)	unclassified	probably benign
R4012:Smarcc1	UTSW	9	109,961,273 (GRCm39)	missense	possibly damaging	0.96
R4091:Smarcc1	UTSW	9	109,993,897 (GRCm39)	missense	possibly damaging	0.84
R4356:Smarcc1	UTSW	9	110,025,324 (GRCm39)	missense	probably damaging	0.99
R4881:Smarcc1	UTSW	9	109,964,696 (GRCm39)	start gained	probably benign
R4993:Smarcc1	UTSW	9	110,004,129 (GRCm39)	missense	probably damaging	1.00
R5110:Smarcc1	UTSW	9	110,026,852 (GRCm39)	missense	possibly damaging	0.89
R5375:Smarcc1	UTSW	9	110,020,017 (GRCm39)	missense	probably damaging	0.99
R5655:Smarcc1	UTSW	9	109,986,412 (GRCm39)	missense	probably null	1.00
R5715:Smarcc1	UTSW	9	110,025,435 (GRCm39)	missense	possibly damaging	0.95
R5767:Smarcc1	UTSW	9	109,961,251 (GRCm39)	intron	probably benign
R5816:Smarcc1	UTSW	9	110,026,712 (GRCm39)	missense	possibly damaging	0.51
R6969:Smarcc1	UTSW	9	110,025,388 (GRCm39)	missense	probably damaging	1.00
R7068:Smarcc1	UTSW	9	110,014,952 (GRCm39)	missense	probably damaging	1.00
R7211:Smarcc1	UTSW	9	109,979,082 (GRCm39)	missense	probably damaging	0.97
R7558:Smarcc1	UTSW	9	109,976,184 (GRCm39)	missense	probably damaging	0.96
R7903:Smarcc1	UTSW	9	110,033,334 (GRCm39)	missense	probably benign	0.01
R8190:Smarcc1	UTSW	9	110,031,602 (GRCm39)	missense	probably benign
R8695:Smarcc1	UTSW	9	110,002,972 (GRCm39)	missense	probably damaging	0.98
R8842:Smarcc1	UTSW	9	110,051,199 (GRCm39)	missense	possibly damaging	0.60
R9024:Smarcc1	UTSW	9	110,015,001 (GRCm39)	missense	probably damaging	0.99
R9131:Smarcc1	UTSW	9	109,964,710 (GRCm39)	missense	possibly damaging	0.73
R9180:Smarcc1	UTSW	9	109,964,728 (GRCm39)	missense	probably damaging	1.00
R9279:Smarcc1	UTSW	9	109,996,792 (GRCm39)	missense	possibly damaging	0.69
R9352:Smarcc1	UTSW	9	110,035,220 (GRCm39)	missense	probably null	1.00
R9538:Smarcc1	UTSW	9	109,961,272 (GRCm39)	missense	probably benign	0.00
R9645:Smarcc1	UTSW	9	109,986,410 (GRCm39)	missense	probably damaging	1.00
T0722:Smarcc1	UTSW	9	110,035,153 (GRCm39)	missense	possibly damaging	0.86

Posted On

2016-08-02