Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Smarcc2'

169052

Institutional Source

Beutler Lab

Gene Symbol

Smarcc2

Ensembl Gene

ENSMUSG00000025369

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2

Synonyms

5930405J04Rik

MMRRC Submission

039549-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R1498 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

128295117-128326351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128318061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 618 (V618A)

Ref Sequence

ENSEMBL: ENSMUSP00000096734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000218228]

AlphaFold

Q6PDG5

Predicted Effect

probably benign
Transcript: ENSMUST00000026433
AA Change: V587A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: V587A

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	4.9e-38	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
low complexity region	768	816	N/A	INTRINSIC
low complexity region	861	879	N/A	INTRINSIC
coiled coil region	906	921	N/A	INTRINSIC
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1074	1098	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099131
AA Change: V618A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: V618A

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	3.9e-38	PFAM
SANT	628	676	9.04e-12	SMART
low complexity region	799	847	N/A	INTRINSIC
low complexity region	892	910	N/A	INTRINSIC
coiled coil region	937	952	N/A	INTRINSIC
low complexity region	979	1013	N/A	INTRINSIC
low complexity region	1016	1041	N/A	INTRINSIC
low complexity region	1043	1093	N/A	INTRINSIC
low complexity region	1105	1129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105235
AA Change: V587A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: V587A

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	426	512	4.5e-35	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
Pfam:SWIRM-assoc_3	684	750	4.1e-34	PFAM
low complexity region	768	816	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	863	946	1.5e-34	PFAM
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1077	1093	N/A	INTRINSIC
low complexity region	1108	1123	N/A	INTRINSIC
low complexity region	1153	1177	N/A	INTRINSIC
low complexity region	1184	1212	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217751

Predicted Effect

probably benign
Transcript: ENSMUST00000218228

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight increase in embryo weight at E13.5 and die shortly after birth (P0-P3). Mice homozygous for a conditional allele activated in the brain exhibit reduced cerebral cortical size and thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,810,289 (GRCm39)	M405T	probably benign	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Grm6	G	A	11: 50,748,083 (GRCm39)	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,195,695 (GRCm39)		probably benign	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or1j19	A	T	2: 36,677,358 (GRCm39)	I274F	probably damaging	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc22a5	A	T	11: 53,760,140 (GRCm39)	L392Q	probably damaging	Het
Slc6a7	A	G	18: 61,129,764 (GRCm39)	I614T	probably benign	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,730,934 (GRCm39)	V820E	probably benign	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	probably benign	Het

Other mutations in Smarcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Smarcc2	APN	10	128,298,924 (GRCm39)	missense	probably damaging	0.97
IGL01450:Smarcc2	APN	10	128,305,189 (GRCm39)	missense	probably damaging	1.00
IGL01638:Smarcc2	APN	10	128,323,943 (GRCm39)	unclassified	probably benign
IGL01663:Smarcc2	APN	10	128,324,846 (GRCm39)	unclassified	probably benign
IGL02308:Smarcc2	APN	10	128,318,641 (GRCm39)	missense	probably damaging	1.00
IGL02511:Smarcc2	APN	10	128,297,251 (GRCm39)	missense	probably damaging	1.00
IGL02633:Smarcc2	APN	10	128,305,556 (GRCm39)	missense	probably damaging	1.00
IGL03375:Smarcc2	APN	10	128,318,781 (GRCm39)	missense	probably damaging	0.99
IGL03493:Smarcc2	APN	10	128,297,226 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Smarcc2	UTSW	10	128,298,893 (GRCm39)	missense	probably damaging	1.00
R0220:Smarcc2	UTSW	10	128,319,505 (GRCm39)	missense	probably benign	0.32
R0281:Smarcc2	UTSW	10	128,310,591 (GRCm39)	missense	probably benign	0.20
R1299:Smarcc2	UTSW	10	128,297,247 (GRCm39)	missense	probably damaging	1.00
R1447:Smarcc2	UTSW	10	128,305,660 (GRCm39)	critical splice donor site	probably null
R1466:Smarcc2	UTSW	10	128,310,114 (GRCm39)	missense	probably damaging	0.98
R1466:Smarcc2	UTSW	10	128,310,114 (GRCm39)	missense	probably damaging	0.98
R1499:Smarcc2	UTSW	10	128,299,741 (GRCm39)	missense	probably damaging	0.99
R1616:Smarcc2	UTSW	10	128,318,662 (GRCm39)	missense	probably damaging	1.00
R1718:Smarcc2	UTSW	10	128,304,867 (GRCm39)	intron	probably benign
R1767:Smarcc2	UTSW	10	128,304,951 (GRCm39)	missense	possibly damaging	0.92
R1792:Smarcc2	UTSW	10	128,299,740 (GRCm39)	missense	probably damaging	1.00
R1965:Smarcc2	UTSW	10	128,310,627 (GRCm39)	missense	probably damaging	1.00
R2229:Smarcc2	UTSW	10	128,324,210 (GRCm39)	unclassified	probably benign
R2286:Smarcc2	UTSW	10	128,299,612 (GRCm39)	missense	possibly damaging	0.58
R2367:Smarcc2	UTSW	10	128,318,036 (GRCm39)	missense	possibly damaging	0.86
R2398:Smarcc2	UTSW	10	128,305,551 (GRCm39)	missense	possibly damaging	0.92
R3084:Smarcc2	UTSW	10	128,324,028 (GRCm39)	unclassified	probably benign
R3085:Smarcc2	UTSW	10	128,324,028 (GRCm39)	unclassified	probably benign
R3777:Smarcc2	UTSW	10	128,318,812 (GRCm39)	critical splice donor site	probably null
R4346:Smarcc2	UTSW	10	128,304,692 (GRCm39)	missense	probably benign	0.02
R4967:Smarcc2	UTSW	10	128,319,049 (GRCm39)	missense	probably damaging	0.99
R4992:Smarcc2	UTSW	10	128,310,579 (GRCm39)	missense	probably damaging	0.99
R5028:Smarcc2	UTSW	10	128,297,314 (GRCm39)	missense	probably damaging	0.99
R5071:Smarcc2	UTSW	10	128,299,809 (GRCm39)	missense	probably damaging	1.00
R5095:Smarcc2	UTSW	10	128,305,169 (GRCm39)	missense	probably damaging	0.99
R5133:Smarcc2	UTSW	10	128,297,342 (GRCm39)	critical splice donor site	probably null
R5180:Smarcc2	UTSW	10	128,323,231 (GRCm39)	unclassified	probably benign
R5231:Smarcc2	UTSW	10	128,297,221 (GRCm39)	missense	probably damaging	1.00
R5240:Smarcc2	UTSW	10	128,316,875 (GRCm39)	critical splice donor site	probably null
R5401:Smarcc2	UTSW	10	128,301,373 (GRCm39)	missense	probably damaging	1.00
R5445:Smarcc2	UTSW	10	128,323,943 (GRCm39)	unclassified	probably benign
R5690:Smarcc2	UTSW	10	128,320,276 (GRCm39)	missense	probably damaging	1.00
R5694:Smarcc2	UTSW	10	128,319,996 (GRCm39)	missense	probably benign
R6240:Smarcc2	UTSW	10	128,323,893 (GRCm39)	unclassified	probably benign
R6545:Smarcc2	UTSW	10	128,319,997 (GRCm39)	missense	probably benign	0.00
R6713:Smarcc2	UTSW	10	128,323,638 (GRCm39)	splice site	probably null
R6934:Smarcc2	UTSW	10	128,305,541 (GRCm39)	missense	probably benign	0.27
R7016:Smarcc2	UTSW	10	128,321,198 (GRCm39)	splice site	probably null
R7149:Smarcc2	UTSW	10	128,318,598 (GRCm39)	missense	probably damaging	1.00
R7229:Smarcc2	UTSW	10	128,323,917 (GRCm39)	missense	unknown
R7395:Smarcc2	UTSW	10	128,321,475 (GRCm39)	missense	probably damaging	1.00
R7596:Smarcc2	UTSW	10	128,318,662 (GRCm39)	missense	probably damaging	1.00
R7722:Smarcc2	UTSW	10	128,317,597 (GRCm39)	missense	possibly damaging	0.72
R8407:Smarcc2	UTSW	10	128,318,190 (GRCm39)	missense	probably damaging	1.00
R8468:Smarcc2	UTSW	10	128,320,262 (GRCm39)	missense	probably benign	0.00
R8753:Smarcc2	UTSW	10	128,319,070 (GRCm39)	missense	probably damaging	1.00
R9023:Smarcc2	UTSW	10	128,301,093 (GRCm39)	missense	probably damaging	0.98
R9325:Smarcc2	UTSW	10	128,324,076 (GRCm39)	missense	unknown
R9327:Smarcc2	UTSW	10	128,321,486 (GRCm39)	missense	probably damaging	1.00
R9331:Smarcc2	UTSW	10	128,323,310 (GRCm39)	missense	unknown
R9686:Smarcc2	UTSW	10	128,316,775 (GRCm39)	missense	probably damaging	1.00
R9742:Smarcc2	UTSW	10	128,297,222 (GRCm39)	missense	probably damaging	1.00
Z1088:Smarcc2	UTSW	10	128,297,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGGTTGATGCTGACACCAAG -3'
(R):5'- TACCTCCAGGAGCAGCAGAGTCTC -3'

Sequencing Primer
(F):5'- tctctctttctctctctctctctc -3'
(R):5'- AGCAGAGTCTCCTGCTCC -3'

Posted On

2014-04-13