Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Smarcc2'

573758

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

045477-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128459248-128490482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128485606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 890 (L890Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100868 (fasta)

Gene Model

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

AlphaFold

Q6PDG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000026433
AA Change: L890Q

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

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: L890Q

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: L921Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: L921Q

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 damaging
Transcript: ENSMUST00000105235
AA Change: L890Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: L890Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780 (GRCm38)		probably null	Het
4930433I11Rik	A	T	7: 40,989,678 (GRCm38)	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658 (GRCm38)	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416 (GRCm38)	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169 (GRCm38)	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348 (GRCm38)	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882 (GRCm38)	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132 (GRCm38)	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705 (GRCm38)	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694 (GRCm38)	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604 (GRCm38)		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Bicd2	A	G	13: 49,378,230 (GRCm38)	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841 (GRCm38)	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321 (GRCm38)	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265 (GRCm38)	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641 (GRCm38)	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703 (GRCm38)	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108 (GRCm38)		probably null	Het
Cntn3	C	T	6: 102,337,394 (GRCm38)		probably null	Het
Cpne3	A	T	4: 19,528,239 (GRCm38)	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107 (GRCm38)	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440 (GRCm38)	T187I		Het
Ctu1	A	G	7: 43,676,595 (GRCm38)	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064 (GRCm38)	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695 (GRCm38)	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569 (GRCm38)	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675 (GRCm38)	R75*	probably null	Het
Defb19	A	T	2: 152,580,023 (GRCm38)		probably null	Het
Dffb	A	T	4: 153,969,113 (GRCm38)	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377 (GRCm38)	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251 (GRCm38)	I169F		Het
Dnah3	T	C	7: 120,060,960 (GRCm38)	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665 (GRCm38)	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405 (GRCm38)	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079 (GRCm38)	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215 (GRCm38)	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883 (GRCm38)	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880 (GRCm38)	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169 (GRCm38)	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581 (GRCm38)	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587 (GRCm38)	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207 (GRCm38)	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430 (GRCm38)		probably null	Het
Hdac10	G	A	15: 89,128,284 (GRCm38)	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699 (GRCm38)	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442 (GRCm38)	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995 (GRCm38)	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527 (GRCm38)	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520 (GRCm38)	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123 (GRCm38)	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369 (GRCm38)	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557 (GRCm38)	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124 (GRCm38)	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440 (GRCm38)	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188 (GRCm38)	P720S	not run	Het
Ncr1	T	A	7: 4,338,151 (GRCm38)	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730 (GRCm38)	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743 (GRCm38)	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864 (GRCm38)	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138 (GRCm38)	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530 (GRCm38)	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404 (GRCm38)	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672 (GRCm38)	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011 (GRCm38)	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159 (GRCm38)	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563 (GRCm38)	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684 (GRCm38)	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638 (GRCm38)	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868 (GRCm38)	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065 (GRCm38)	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926 (GRCm38)		probably benign	Het
Ryr2	A	G	13: 11,785,111 (GRCm38)	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921 (GRCm38)	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555 (GRCm38)	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542 (GRCm38)	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275 (GRCm38)	L575Q	probably damaging	Het
Smg5	T	A	3: 88,361,071 (GRCm38)	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073 (GRCm38)	V51A	probably damaging	Het
St14	T	C	9: 31,096,899 (GRCm38)	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728 (GRCm38)	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945 (GRCm38)	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097 (GRCm38)	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130 (GRCm38)		probably null	Het
Tmem196	G	A	12: 120,011,267 (GRCm38)	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867 (GRCm38)	F84L		Het
Tph1	C	T	7: 46,657,203 (GRCm38)		probably null	Het
Ttn	A	G	2: 76,946,490 (GRCm38)	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112 (GRCm38)	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585 (GRCm38)	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745 (GRCm38)	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817 (GRCm38)	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111 (GRCm38)	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019 (GRCm38)		probably benign	Het

Other mutations in Smarcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Smarcc2	APN	10	128,463,055 (GRCm38)	missense	probably damaging	0.97
IGL01450:Smarcc2	APN	10	128,469,320 (GRCm38)	missense	probably damaging	1.00
IGL01638:Smarcc2	APN	10	128,488,074 (GRCm38)	unclassified	probably benign
IGL01663:Smarcc2	APN	10	128,488,977 (GRCm38)	unclassified	probably benign
IGL02308:Smarcc2	APN	10	128,482,772 (GRCm38)	missense	probably damaging	1.00
IGL02511:Smarcc2	APN	10	128,461,382 (GRCm38)	missense	probably damaging	1.00
IGL02633:Smarcc2	APN	10	128,469,687 (GRCm38)	missense	probably damaging	1.00
IGL03375:Smarcc2	APN	10	128,482,912 (GRCm38)	missense	probably damaging	0.99
IGL03493:Smarcc2	APN	10	128,461,357 (GRCm38)	missense	probably damaging	1.00
PIT4403001:Smarcc2	UTSW	10	128,463,024 (GRCm38)	missense	probably damaging	1.00
R0220:Smarcc2	UTSW	10	128,483,636 (GRCm38)	missense	probably benign	0.32
R0281:Smarcc2	UTSW	10	128,474,722 (GRCm38)	missense	probably benign	0.20
R1299:Smarcc2	UTSW	10	128,461,378 (GRCm38)	missense	probably damaging	1.00
R1447:Smarcc2	UTSW	10	128,469,791 (GRCm38)	critical splice donor site	probably null
R1466:Smarcc2	UTSW	10	128,474,245 (GRCm38)	missense	probably damaging	0.98
R1466:Smarcc2	UTSW	10	128,474,245 (GRCm38)	missense	probably damaging	0.98
R1498:Smarcc2	UTSW	10	128,482,192 (GRCm38)	missense	probably benign	0.02
R1499:Smarcc2	UTSW	10	128,463,872 (GRCm38)	missense	probably damaging	0.99
R1616:Smarcc2	UTSW	10	128,482,793 (GRCm38)	missense	probably damaging	1.00
R1718:Smarcc2	UTSW	10	128,468,998 (GRCm38)	intron	probably benign
R1767:Smarcc2	UTSW	10	128,469,082 (GRCm38)	missense	possibly damaging	0.92
R1792:Smarcc2	UTSW	10	128,463,871 (GRCm38)	missense	probably damaging	1.00
R1965:Smarcc2	UTSW	10	128,474,758 (GRCm38)	missense	probably damaging	1.00
R2229:Smarcc2	UTSW	10	128,488,341 (GRCm38)	unclassified	probably benign
R2286:Smarcc2	UTSW	10	128,463,743 (GRCm38)	missense	possibly damaging	0.58
R2367:Smarcc2	UTSW	10	128,482,167 (GRCm38)	missense	possibly damaging	0.86
R2398:Smarcc2	UTSW	10	128,469,682 (GRCm38)	missense	possibly damaging	0.92
R3084:Smarcc2	UTSW	10	128,488,159 (GRCm38)	unclassified	probably benign
R3085:Smarcc2	UTSW	10	128,488,159 (GRCm38)	unclassified	probably benign
R3777:Smarcc2	UTSW	10	128,482,943 (GRCm38)	critical splice donor site	probably null
R4346:Smarcc2	UTSW	10	128,468,823 (GRCm38)	missense	probably benign	0.02
R4967:Smarcc2	UTSW	10	128,483,180 (GRCm38)	missense	probably damaging	0.99
R4992:Smarcc2	UTSW	10	128,474,710 (GRCm38)	missense	probably damaging	0.99
R5028:Smarcc2	UTSW	10	128,461,445 (GRCm38)	missense	probably damaging	0.99
R5071:Smarcc2	UTSW	10	128,463,940 (GRCm38)	missense	probably damaging	1.00
R5095:Smarcc2	UTSW	10	128,469,300 (GRCm38)	missense	probably damaging	0.99
R5133:Smarcc2	UTSW	10	128,461,473 (GRCm38)	critical splice donor site	probably null
R5180:Smarcc2	UTSW	10	128,487,362 (GRCm38)	unclassified	probably benign
R5231:Smarcc2	UTSW	10	128,461,352 (GRCm38)	missense	probably damaging	1.00
R5240:Smarcc2	UTSW	10	128,481,006 (GRCm38)	critical splice donor site	probably null
R5401:Smarcc2	UTSW	10	128,465,504 (GRCm38)	missense	probably damaging	1.00
R5445:Smarcc2	UTSW	10	128,488,074 (GRCm38)	unclassified	probably benign
R5690:Smarcc2	UTSW	10	128,484,407 (GRCm38)	missense	probably damaging	1.00
R5694:Smarcc2	UTSW	10	128,484,127 (GRCm38)	missense	probably benign
R6240:Smarcc2	UTSW	10	128,488,024 (GRCm38)	unclassified	probably benign
R6545:Smarcc2	UTSW	10	128,484,128 (GRCm38)	missense	probably benign	0.00
R6713:Smarcc2	UTSW	10	128,487,769 (GRCm38)	splice site	probably null
R6934:Smarcc2	UTSW	10	128,469,672 (GRCm38)	missense	probably benign	0.27
R7016:Smarcc2	UTSW	10	128,485,329 (GRCm38)	splice site	probably null
R7149:Smarcc2	UTSW	10	128,482,729 (GRCm38)	missense	probably damaging	1.00
R7229:Smarcc2	UTSW	10	128,488,048 (GRCm38)	missense	unknown
R7596:Smarcc2	UTSW	10	128,482,793 (GRCm38)	missense	probably damaging	1.00
R7722:Smarcc2	UTSW	10	128,481,728 (GRCm38)	missense	possibly damaging	0.72
R8407:Smarcc2	UTSW	10	128,482,321 (GRCm38)	missense	probably damaging	1.00
R8468:Smarcc2	UTSW	10	128,484,393 (GRCm38)	missense	probably benign	0.00
R8753:Smarcc2	UTSW	10	128,483,201 (GRCm38)	missense	probably damaging	1.00
R9023:Smarcc2	UTSW	10	128,465,224 (GRCm38)	missense	probably damaging	0.98
R9325:Smarcc2	UTSW	10	128,488,207 (GRCm38)	missense	unknown
R9327:Smarcc2	UTSW	10	128,485,617 (GRCm38)	missense	probably damaging	1.00
R9331:Smarcc2	UTSW	10	128,487,441 (GRCm38)	missense	unknown
R9686:Smarcc2	UTSW	10	128,480,906 (GRCm38)	missense	probably damaging	1.00
R9742:Smarcc2	UTSW	10	128,461,353 (GRCm38)	missense	probably damaging	1.00
Z1088:Smarcc2	UTSW	10	128,461,434 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTGTGATCGCAGCTACTTC -3'
(R):5'- AGAAAGCCTGACTAGCAGC -3'

Sequencing Primer
(F):5'- GTGATCGCAGCTACTTCCTTAAG -3'
(R):5'- AACCTCTAGGCTGCCTGC -3'

Posted On

2019-09-13