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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.869) 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		probably null	Het
4930433I11Rik	A	T	7: 40,989,678	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bicd2	A	G	13: 49,378,230	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108		probably null	Het
Cntn3	C	T	6: 102,337,394		probably null	Het
Cpne3	A	T	4: 19,528,239	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440	T187I		Het
Ctu1	A	G	7: 43,676,595	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675	R75*	probably null	Het
Defb19	A	T	2: 152,580,023		probably null	Het
Dffb	A	T	4: 153,969,113	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251	I169F		Het
Dnah3	T	C	7: 120,060,960	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430		probably null	Het
Hdac10	G	A	15: 89,128,284	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188	P720S	not run	Het
Ncr1	T	A	7: 4,338,151	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Ryr2	A	G	13: 11,785,111	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275	L575Q	probably damaging	Het
Smg5	T	A	3: 88,361,071	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073	V51A	probably damaging	Het
St14	T	C	9: 31,096,899	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130		probably null	Het
Tmem196	G	A	12: 120,011,267	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867	F84L		Het
Tph1	C	T	7: 46,657,203		probably null	Het
Ttn	A	G	2: 76,946,490	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019		probably benign	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
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
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'- GAGTTGTGATCGCAGCTACTTC -3'
(R):5'- AGAAAGCCTGACTAGCAGC -3'

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

Posted On

2019-09-13