Mutagenetix > Incidental Mutation

Incidental Mutation 'R5071:Smarcc2'

388794

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

042661-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R5071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128295117-128326351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128299809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

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: D158G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: D158G

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: D158G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: D158G

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: D158G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: D158G

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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
AI182371	A	T	2: 34,975,227 (GRCm39)	I334N	probably benign	Het
Aldh1b1	A	G	4: 45,803,383 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,113,838 (GRCm39)	M298I	probably benign	Het
Atp8a1	T	A	5: 67,973,066 (GRCm39)	K27N	probably benign	Het
BC004004	G	A	17: 29,513,389 (GRCm39)		probably null	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh17	G	T	4: 11,810,325 (GRCm39)	G672V	probably damaging	Het
Cdh5	C	A	8: 104,867,334 (GRCm39)	T537K	probably damaging	Het
Chd1	T	A	17: 15,982,667 (GRCm39)	S1377R	probably benign	Het
Chd2	T	C	7: 73,079,437 (GRCm39)	N1821S	probably benign	Het
Cnot3	A	G	7: 3,653,860 (GRCm39)	K4R	probably damaging	Het
Colq	T	A	14: 31,250,789 (GRCm39)	I339F	possibly damaging	Het
Coq2	A	T	5: 100,815,816 (GRCm39)	L121Q	probably damaging	Het
Csnk1e	G	A	15: 79,305,072 (GRCm39)	R342*	probably null	Het
Cstl1	A	T	2: 148,592,847 (GRCm39)	M1L	probably benign	Het
Cwh43	A	G	5: 73,581,256 (GRCm39)		probably null	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Dgkh	T	C	14: 78,841,972 (GRCm39)	K417E	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Edn1	A	G	13: 42,457,153 (GRCm39)	E62G	probably damaging	Het
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Fitm1	T	A	14: 55,813,230 (GRCm39)	V31E	possibly damaging	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gabrd	A	C	4: 155,471,619 (GRCm39)	F228C	probably damaging	Het
Gm5916	A	C	9: 36,039,964 (GRCm39)	L8R	probably benign	Het
Gpr108	A	G	17: 57,542,335 (GRCm39)	S557P	probably damaging	Het
Gpr75	C	A	11: 30,842,380 (GRCm39)	N428K	probably damaging	Het
H2-M5	T	G	17: 37,298,076 (GRCm39)		probably null	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Homer3	T	C	8: 70,744,005 (GRCm39)	V243A	probably benign	Het
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi203	T	C	1: 173,762,676 (GRCm39)	Q152R	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ighv1-24	A	G	12: 114,736,748 (GRCm39)	Y51H	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Insl6	T	C	19: 29,302,655 (GRCm39)	R21G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Ltbp3	T	C	19: 5,806,851 (GRCm39)	C1043R	probably damaging	Het
Mpeg1	T	A	19: 12,438,545 (GRCm39)	M1K	probably null	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Muc21	G	A	17: 35,931,444 (GRCm39)		probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nek9	C	A	12: 85,374,233 (GRCm39)	R268L	possibly damaging	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or2l5	A	G	16: 19,333,777 (GRCm39)	I203T	probably benign	Het
Or4c100	T	C	2: 88,356,385 (GRCm39)	S153P	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or6x1	T	C	9: 40,098,960 (GRCm39)	L183S	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Plagl1	A	G	10: 13,003,005 (GRCm39)	Y91C	probably damaging	Het
Polr1a	A	G	6: 71,908,693 (GRCm39)	N506S	possibly damaging	Het
Pomt2	A	C	12: 87,180,234 (GRCm39)	C256G	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Ptprf	C	A	4: 118,069,196 (GRCm39)	G1624W	probably damaging	Het
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Rc3h1	A	G	1: 160,787,047 (GRCm39)	D814G	possibly damaging	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Rusc2	A	G	4: 43,415,240 (GRCm39)	D182G	probably benign	Het
Setd1b	A	G	5: 123,298,977 (GRCm39)		probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Sptbn1	A	G	11: 30,063,854 (GRCm39)		probably null	Het
St3gal5	T	C	6: 72,109,037 (GRCm39)	C42R	probably damaging	Het
Syt7	T	C	19: 10,420,792 (GRCm39)	S397P	possibly damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Thada	T	A	17: 84,693,960 (GRCm39)	D1263V	probably damaging	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tpcn1	A	T	5: 120,686,334 (GRCm39)		probably null	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Ubxn2b	A	T	4: 6,214,746 (GRCm39)	Q260L	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Usp5	A	G	6: 124,803,342 (GRCm39)	F7L	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn1r28	A	T	6: 58,242,894 (GRCm39)	I246F	probably benign	Het
Vmn2r2	C	A	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Zbtb26	T	C	2: 37,325,941 (GRCm39)	H365R	probably benign	Het
Zfp976	A	T	7: 42,262,354 (GRCm39)	Y494*	probably null	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
R1498:Smarcc2	UTSW	10	128,318,061 (GRCm39)	missense	probably benign	0.02
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
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'- ACCATTGAGAAGTCCTTGGTAC -3'
(R):5'- AGCGCTGCTCAAAGACTTAAC -3'

Sequencing Primer
(F):5'- CCTTGGTACAGGTAATATACAAGCAC -3'
(R):5'- GCTGCTCAAAGACTTAACTCTCACTC -3'

Posted On

2016-06-06