Mutagenetix > Incidental Mutations

Incidental Mutation 'R1767:Smarcc2'

194489

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128459248-128490482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128469082 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 262 (D262V)

Ref Sequence

ENSEMBL: ENSMUSP00000096734 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026433
AA Change: D262V

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: D262V

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

possibly damaging
Transcript: ENSMUST00000099131
AA Change: D262V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: D262V

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

possibly damaging
Transcript: ENSMUST00000105235
AA Change: D262V

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: D262V

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

probably benign
Transcript: ENSMUST00000218228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220384

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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. 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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,849,961	N128S	possibly damaging	Het
1700011H14Rik	G	A	14: 49,235,884	T128I	probably benign	Het
Adam26b	T	A	8: 43,519,911	I685F	probably benign	Het
Adgrf5	A	T	17: 43,450,564	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,270,714	N480K	probably damaging	Het
Alk	T	A	17: 71,900,698	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,643,953	Q778R	probably damaging	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Ascc3	T	A	10: 50,718,376	I1189N	probably damaging	Het
AU040320	G	A	4: 126,840,724	G713D	probably damaging	Het
Bmpr1a	A	G	14: 34,447,770		probably null	Het
Bpifa6	A	G	2: 153,987,227	T225A	possibly damaging	Het
Cacna1g	T	C	11: 94,459,802	S406G	probably benign	Het
Ccdc40	T	A	11: 119,230,696		probably null	Het
Cckbr	A	T	7: 105,434,551	I229F	possibly damaging	Het
Cers3	A	G	7: 66,783,403	K156R	probably damaging	Het
Chd1	T	A	17: 15,770,303	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,063,895		probably benign	Het
Coq10b	A	G	1: 55,061,354	R66G	probably damaging	Het
Cpn2	A	T	16: 30,259,667	Y405*	probably null	Het
Dis3	A	T	14: 99,084,142	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,462,584	H270R	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Ephx1	C	T	1: 180,994,677	G101S	probably damaging	Het
Flg	A	T	3: 93,279,913	Y224F	possibly damaging	Het
Focad	G	T	4: 88,357,468	V1105L	unknown	Het
Fzd1	A	G	5: 4,756,812	Y257H	probably benign	Het
Gm11116	T	C	5: 88,111,452		probably benign	Het
Gm11938	G	A	11: 99,603,245	S8F	unknown	Het
Gm9008	A	T	6: 76,497,605	N9K	unknown	Het
Grin3a	A	T	4: 49,844,423	V220E	probably damaging	Het
Gstt2	T	C	10: 75,834,264	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hook3	A	G	8: 26,071,056		probably null	Het
Itpr2	T	C	6: 146,350,068	D993G	possibly damaging	Het
Jhy	T	C	9: 40,961,148	R22G	probably benign	Het
Krt13	A	C	11: 100,121,100	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,671,311	S115L	probably damaging	Het
L1td1	T	C	4: 98,737,449	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Ly96	A	G	1: 16,706,175	T112A	probably benign	Het
Meltf	G	T	16: 31,883,929	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,248,405	H1040Q	probably damaging	Het
Npas4	G	A	19: 4,988,183	P199L	probably benign	Het
Olfr1087	A	G	2: 86,690,384	M197T	probably benign	Het
Olfr530	T	C	7: 140,373,476	I45V	possibly damaging	Het
Olfr569	T	A	7: 102,887,626	I176F	probably damaging	Het
Pcdh10	A	T	3: 45,384,177	H923L	probably damaging	Het
Pias3	T	C	3: 96,701,403	S228P	probably damaging	Het
Pign	A	G	1: 105,653,192	V154A	probably benign	Het
Plod3	T	A	5: 136,990,176	V305E	possibly damaging	Het
Prkra	G	T	2: 76,647,240	H40Q	possibly damaging	Het
Prss22	T	A	17: 23,996,357	E148D	probably benign	Het
Psg17	A	G	7: 18,816,802	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,873,628	D49V	possibly damaging	Het
Rtp1	A	G	16: 23,431,374	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,637,100	I522F	probably damaging	Het
Slco5a1	T	C	1: 12,989,615	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,490,549	T487A	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Ssbp3	G	T	4: 107,047,415	D336Y	probably damaging	Het
Sun2	A	G	15: 79,725,557	S694P	probably benign	Het
Tdp1	G	A	12: 99,891,343		probably null	Het
Tfap2a	A	T	13: 40,725,137	I204N	probably damaging	Het
Tfip11	T	A	5: 112,334,432	W519R	probably damaging	Het
Tie1	T	C	4: 118,476,176	E831G	possibly damaging	Het
Tjp1	A	G	7: 65,312,553		probably null	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,693,183	I78M	possibly damaging	Het
Trank1	T	C	9: 111,391,479	V2428A	probably benign	Het
Trim35	A	G	14: 66,304,168	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,418,102	S674P	probably damaging	Het
Tsn	A	T	1: 118,300,888	D201E	probably damaging	Het
Usp42	A	T	5: 143,714,866	V1134E	possibly damaging	Het
Uvrag	A	G	7: 99,099,394	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,187,271	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,580,578	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,858,714	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,772,675	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,411,336	S398A	possibly damaging	Het

Other mutations in Smarcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Smarcc2	APN	10	128463055	missense	probably damaging	0.97
IGL01450:Smarcc2	APN	10	128469320	missense	probably damaging	1.00
IGL01638:Smarcc2	APN	10	128488074	unclassified	probably benign
IGL01663:Smarcc2	APN	10	128488977	unclassified	probably benign
IGL02308:Smarcc2	APN	10	128482772	missense	probably damaging	1.00
IGL02511:Smarcc2	APN	10	128461382	missense	probably damaging	1.00
IGL02633:Smarcc2	APN	10	128469687	missense	probably damaging	1.00
IGL03375:Smarcc2	APN	10	128482912	missense	probably damaging	0.99
IGL03493:Smarcc2	APN	10	128461357	missense	probably damaging	1.00
R0220:Smarcc2	UTSW	10	128483636	missense	probably benign	0.32
R0281:Smarcc2	UTSW	10	128474722	missense	probably benign	0.20
R1299:Smarcc2	UTSW	10	128461378	missense	probably damaging	1.00
R1447:Smarcc2	UTSW	10	128469791	critical splice donor site	probably null
R1466:Smarcc2	UTSW	10	128474245	missense	probably damaging	0.98
R1466:Smarcc2	UTSW	10	128474245	missense	probably damaging	0.98
R1498:Smarcc2	UTSW	10	128482192	missense	probably benign	0.02
R1499:Smarcc2	UTSW	10	128463872	missense	probably damaging	0.99
R1616:Smarcc2	UTSW	10	128482793	missense	probably damaging	1.00
R1718:Smarcc2	UTSW	10	128468998	intron	probably benign
R1792:Smarcc2	UTSW	10	128463871	missense	probably damaging	1.00
R1965:Smarcc2	UTSW	10	128474758	missense	probably damaging	1.00
R2229:Smarcc2	UTSW	10	128488341	unclassified	probably benign
R2286:Smarcc2	UTSW	10	128463743	missense	possibly damaging	0.58
R2367:Smarcc2	UTSW	10	128482167	missense	possibly damaging	0.86
R2398:Smarcc2	UTSW	10	128469682	missense	possibly damaging	0.92
R3084:Smarcc2	UTSW	10	128488159	unclassified	probably benign
R3085:Smarcc2	UTSW	10	128488159	unclassified	probably benign
R3777:Smarcc2	UTSW	10	128482943	critical splice donor site	probably null
R4346:Smarcc2	UTSW	10	128468823	missense	probably benign	0.02
R4967:Smarcc2	UTSW	10	128483180	missense	probably damaging	0.99
R4992:Smarcc2	UTSW	10	128474710	missense	probably damaging	0.99
R5028:Smarcc2	UTSW	10	128461445	missense	probably damaging	0.99
R5071:Smarcc2	UTSW	10	128463940	missense	probably damaging	1.00
R5095:Smarcc2	UTSW	10	128469300	missense	probably damaging	0.99
R5133:Smarcc2	UTSW	10	128461473	critical splice donor site	probably null
R5180:Smarcc2	UTSW	10	128487362	unclassified	probably benign
R5231:Smarcc2	UTSW	10	128461352	missense	probably damaging	1.00
R5240:Smarcc2	UTSW	10	128481006	critical splice donor site	probably null
R5401:Smarcc2	UTSW	10	128465504	missense	probably damaging	1.00
R5445:Smarcc2	UTSW	10	128488074	unclassified	probably benign
R5690:Smarcc2	UTSW	10	128484407	missense	probably damaging	1.00
R5694:Smarcc2	UTSW	10	128484127	missense	probably benign
R6240:Smarcc2	UTSW	10	128488024	unclassified	probably benign
R6545:Smarcc2	UTSW	10	128484128	missense	probably benign	0.00
R6934:Smarcc2	UTSW	10	128469672	missense	probably benign	0.27
Z1088:Smarcc2	UTSW	10	128461434	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCAGCGAGTGAAATTGAAGCATC -3'
(R):5'- GGCTGTTTACCTGCACAACAGGAC -3'

Sequencing Primer
(F):5'- TTGAAGCATCTGTGGAGGAC -3'
(R):5'- TGCACAACAGGACGTGGG -3'

Posted On

2014-05-23