Mutagenetix > Incidental Mutation

Incidental Mutation 'R1466:Smarcc2'

166074

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

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R1466 (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 128474245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 376 (T376S)

Ref Sequence

ENSEMBL: ENSMUSP00000096734 (fasta)

Gene Model

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

AlphaFold

Q6PDG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026433
AA Change: T376S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: T376S

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 damaging
Transcript: ENSMUST00000099131
AA Change: T376S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: T376S

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: T376S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: T376S

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

Coding Region Coverage

1x: 99.4%
3x: 97.9%
10x: 90.8%
20x: 71.5%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,515,410	A71V	probably damaging	Het
Adamts12	T	C	15: 11,311,359	F1234S	probably benign	Het
Ahnak	A	G	19: 9,015,875	D4841G	probably damaging	Het
Akap13	T	C	7: 75,729,049	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337		probably null	Het
Arhgef17	G	T	7: 100,929,659	P694Q	possibly damaging	Het
Arrdc1	T	C	2: 24,925,795	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065	Y2250H	probably damaging	Het
Aspg	A	G	12: 112,121,852	N385D	probably benign	Het
Atxn3	G	A	12: 101,926,499	R319C	possibly damaging	Het
BC005561	T	A	5: 104,518,257	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258	A2478T	probably damaging	Het
C1s1	C	T	6: 124,531,131	C633Y	probably damaging	Het
C8g	C	T	2: 25,500,216	A6T	probably benign	Het
Cbl	A	T	9: 44,154,244	V706E	probably benign	Het
Cfhr1	C	T	1: 139,557,574	E45K	probably benign	Het
Chd7	G	A	4: 8,840,561		probably null	Het
Chek1	G	T	9: 36,725,857	A2E	probably damaging	Het
Cntnap1	C	A	11: 101,180,360	F366L	probably damaging	Het
Corin	C	T	5: 72,302,790		probably null	Het
Crb2	T	C	2: 37,783,388	Y99H	probably damaging	Het
Ctdspl2	G	A	2: 122,003,929	R332K	probably benign	Het
Cym	G	A	3: 107,213,458	T277I	probably damaging	Het
Cyp2d11	C	T	15: 82,391,735	C215Y	probably benign	Het
Dido1	G	A	2: 180,662,328	P1261L	probably damaging	Het
Dnah10	T	A	5: 124,763,096	Y1265N	probably benign	Het
Dtx3l	G	A	16: 35,932,728	L503F	probably damaging	Het
Efhb	A	G	17: 53,437,178	F462L	probably damaging	Het
Enpep	T	A	3: 129,319,448	T203S	probably damaging	Het
Fat3	A	C	9: 16,375,482	V915G	probably damaging	Het
Fbln7	A	G	2: 128,877,429	T49A	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fgf14	T	A	14: 124,676,539	K60M	probably benign	Het
Galnt4	A	G	10: 99,108,709	R99G	probably benign	Het
Gimap4	C	A	6: 48,691,282	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964	T6I	probably damaging	Het
Gm10110	A	T	14: 89,898,075		noncoding transcript	Het
Gm4884	A	G	7: 41,043,128	K174E	probably damaging	Het
Gm6583	C	T	5: 112,354,764	G358D	probably benign	Het
Grip2	A	T	6: 91,788,443	D19E	probably damaging	Het
Grk4	T	C	5: 34,694,750	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566	E220K	probably damaging	Het
Helz2	G	A	2: 181,236,297	P903S	probably damaging	Het
Hydin	T	A	8: 110,532,953	V2519E	possibly damaging	Het
Ints11	G	A	4: 155,888,110		probably null	Het
Kif1a	A	G	1: 93,054,929	W718R	possibly damaging	Het
Kif1b	A	T	4: 149,223,252	Y839N	probably damaging	Het
Kif20b	T	A	19: 34,950,599	V1047D	probably benign	Het
Klhl23	T	C	2: 69,833,888	I527T	probably damaging	Het
Klra10	T	A	6: 130,279,315	R125S	probably damaging	Het
Klra10	T	C	6: 130,279,431	N87D	probably damaging	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542		probably null	Het
Map4k2	G	T	19: 6,341,917	W87L	probably damaging	Het
Mccc1	A	G	3: 35,974,286	V457A	probably benign	Het
Mdn1	T	A	4: 32,730,788	S2886T	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mrpl24	T	A	3: 87,921,928	Y21*	probably null	Het
Mrps35	C	T	6: 147,055,984	T169M	probably damaging	Het
Mtcl1	T	A	17: 66,380,435	D492V	probably damaging	Het
Muc2	A	G	7: 141,748,974	Y457C	probably damaging	Het
Muc4	G	A	16: 32,753,595	G1157D	probably benign	Het
Myg1	T	A	15: 102,337,390	L275Q	probably damaging	Het
Naga	T	A	15: 82,334,788	M237L	probably null	Het
Oc90	T	A	15: 65,897,720	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995	F251I	probably damaging	Het
Olfr103	A	T	17: 37,336,956	L92H	probably benign	Het
Olfr1253	C	T	2: 89,752,267	C187Y	probably damaging	Het
Olfr46	A	G	7: 140,610,969	I268V	probably benign	Het
Olfr522	A	G	7: 140,162,203	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494	C324S	possibly damaging	Het
Pcdh10	T	G	3: 45,379,974	L241R	probably damaging	Het
Pdzrn4	T	C	15: 92,770,537	S857P	probably benign	Het
Plec	C	T	15: 76,185,908	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481	V149D	probably benign	Het
Ppef1	C	A	X: 160,625,674		probably null	Het
Prkaa1	C	A	15: 5,178,798	P507T	probably benign	Het
Ptch1	A	G	13: 63,524,969	Y804H	probably benign	Het
R3hdm2	A	G	10: 127,476,690	I434V	probably benign	Het
Rfx5	T	A	3: 94,956,303	Y88N	probably damaging	Het
Rnase2b	A	T	14: 51,162,839	K126*	probably null	Het
Rpl3l	A	G	17: 24,730,871	I15V	probably benign	Het
Saal1	G	T	7: 46,702,545		probably null	Het
Sbpl	A	C	17: 23,953,254	D230E	unknown	Het
Scn10a	T	C	9: 119,666,490	Y322C	probably damaging	Het
Sec16a	A	T	2: 26,431,157	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060	D824E	possibly damaging	Het
Slc25a36	A	G	9: 97,080,355	F194L	probably damaging	Het
Slc27a4	T	A	2: 29,811,190	V331E	probably damaging	Het
Slc7a11	G	T	3: 50,381,073		probably null	Het
Slco4c1	A	T	1: 96,841,172	S322T	probably damaging	Het
Srebf1	C	T	11: 60,200,702	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662	M1R	probably null	Het
Syp	A	T	X: 7,648,705		probably benign	Het
Tas1r2	A	G	4: 139,669,411	D687G	probably damaging	Het
Tekt4	A	T	17: 25,472,074	Q118L	probably benign	Het
Tph2	T	C	10: 115,079,695	N480S	probably benign	Het
Tsc2	A	T	17: 24,608,973	M839K	probably damaging	Het
Ttc22	T	C	4: 106,622,780	F77S	probably damaging	Het
Uaca	C	T	9: 60,854,321	A205V	possibly damaging	Het
Uhmk1	A	T	1: 170,208,653		probably null	Het
Usp17lc	A	G	7: 103,418,941	H481R	possibly damaging	Het
Vwa3a	A	G	7: 120,768,165	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895	T140I	probably damaging	Het
Zfp704	G	T	3: 9,447,348	T288N	possibly damaging	Het
Zfp93	T	C	7: 24,276,096	V502A	probably damaging	Het
Zzef1	C	T	11: 72,924,679	P2942S	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
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
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
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	splice site	probably null
R6934:Smarcc2	UTSW	10	128469672	missense	probably benign	0.27
R7016:Smarcc2	UTSW	10	128485329	splice site	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
R8407:Smarcc2	UTSW	10	128482321	missense	probably damaging	1.00
R8468:Smarcc2	UTSW	10	128484393	missense	probably benign	0.00
R8753:Smarcc2	UTSW	10	128483201	missense	probably damaging	1.00
R9023:Smarcc2	UTSW	10	128465224	missense	probably damaging	0.98
R9325:Smarcc2	UTSW	10	128488207	missense	unknown
R9327:Smarcc2	UTSW	10	128485617	missense	probably damaging	1.00
R9331:Smarcc2	UTSW	10	128487441	missense	unknown
R9686:Smarcc2	UTSW	10	128480906	missense	probably damaging	1.00
R9742:Smarcc2	UTSW	10	128461353	missense	probably damaging	1.00
Z1088:Smarcc2	UTSW	10	128461434	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCACATAGATGCTGGGCAAG -3'
(R):5'- AACACTGTGATCCCTGTCCCAGAG -3'

Sequencing Primer
(F):5'- TGCTGGGCAAGGCAGTAG -3'
(R):5'- GGTGGAGCCTCTCTAAGCTAATC -3'

Posted On

2014-03-28