Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01663:Smarcc2'

103248

Institutional Source

Australian Phenomics Network (link to record)

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: 0.841) question?

Stock #

IGL01663

Quality Score

Status

Chromosome

Chromosomal Location

128459248-128490482 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 128488977 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000217969] [ENSMUST00000218127] [ENSMUST00000218228] [ENSMUST00000219236] [ENSMUST00000220307] [ENSMUST00000220427]

Predicted Effect

probably benign
Transcript: ENSMUST00000026433

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369

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

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369

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

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369

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: ENSMUST00000164181

SMART Domains

Protein: ENSMUSP00000128803
Gene: ENSMUSG00000090841

Domain	Start	End	E-Value	Type
EFh	11	39	8.98e-4	SMART
EFh	88	116	3.64e1	SMART
EFh	123	151	6.63e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217733

Predicted Effect

probably benign
Transcript: ENSMUST00000217776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217913

Predicted Effect

probably benign
Transcript: ENSMUST00000217969

Predicted Effect

probably benign
Transcript: ENSMUST00000218127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218170

Predicted Effect

probably benign
Transcript: ENSMUST00000218228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219100

Predicted Effect

probably benign
Transcript: ENSMUST00000219236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219655

Predicted Effect

probably benign
Transcript: ENSMUST00000220307

Predicted Effect

probably benign
Transcript: ENSMUST00000220427

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. 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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,277,802	I1085V	possibly damaging	Het
Adamts16	T	C	13: 70,793,141	T376A	probably benign	Het
Aifm3	T	A	16: 17,502,786		probably null	Het
Ankrd16	A	G	2: 11,778,662	E25G	probably damaging	Het
Ano6	T	A	15: 95,967,614		probably null	Het
Cdh18	T	C	15: 23,445,991	I509T	possibly damaging	Het
Cdon	A	G	9: 35,483,214	T919A	possibly damaging	Het
Clca3a2	G	A	3: 144,817,155	P148L	probably damaging	Het
Dnph1	G	T	17: 46,498,482	R74L	probably benign	Het
Epha6	C	T	16: 59,775,644	A895T	probably damaging	Het
Exoc3l4	T	A	12: 111,429,411		probably benign	Het
Fbll1	A	G	11: 35,797,821	I205T	probably damaging	Het
Frem2	T	A	3: 53,517,013	H3001L	probably damaging	Het
Galk2	A	G	2: 125,983,179	N432D	probably benign	Het
Gm7535	A	C	17: 17,911,357		probably benign	Het
Il10	A	G	1: 131,021,414	E104G	probably benign	Het
Il1a	T	C	2: 129,304,717	K152R	probably benign	Het
Kdm1b	T	A	13: 47,073,737	N568K	probably damaging	Het
Kmt2c	A	C	5: 25,310,670	L2725R	probably damaging	Het
Krba1	G	T	6: 48,411,754	L527F	probably damaging	Het
Lrp2	A	G	2: 69,428,706	S4547P	probably benign	Het
Nin	G	T	12: 70,043,665	A992E	possibly damaging	Het
Olfr510	T	A	7: 108,667,891	H158Q	probably benign	Het
Olfr740	G	A	14: 50,453,150	V33M	probably benign	Het
Pcdhb1	A	G	18: 37,267,133	I712M	possibly damaging	Het
Prmt2	C	T	10: 76,217,309		probably null	Het
Rbm20	T	G	19: 53,840,995	V608G	probably damaging	Het
Speer3	A	T	5: 13,793,222	R48*	probably null	Het
Tlr1	A	T	5: 64,925,073	N720K	possibly damaging	Het
Tnfrsf21	A	T	17: 43,087,811	M603L	probably benign	Het
Ttc3	T	A	16: 94,409,731		probably null	Het
Usp4	C	A	9: 108,365,880	A249E	possibly damaging	Het
Wdr20	T	A	12: 110,793,514	V278E	probably 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
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
PIT4403001:Smarcc2	UTSW	10	128463024	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
R1767:Smarcc2	UTSW	10	128469082	missense	possibly damaging	0.92
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
R6713:Smarcc2	UTSW	10	128487769	intron	probably null
R6934:Smarcc2	UTSW	10	128469672	missense	probably benign	0.27
R7016:Smarcc2	UTSW	10	128485329	intron	probably null
R7149:Smarcc2	UTSW	10	128482729	missense	probably damaging	1.00
R7229:Smarcc2	UTSW	10	128488048	missense	unknown
R7395:Smarcc2	UTSW	10	128485606	missense	probably damaging	1.00
R7596:Smarcc2	UTSW	10	128482793	missense	probably damaging	1.00
R7722:Smarcc2	UTSW	10	128481728	missense	possibly damaging	0.72
Z1088:Smarcc2	UTSW	10	128461434	missense	probably damaging	1.00

Posted On

2014-01-21