Mutagenetix > Incidental Mutation

Incidental Mutation 'R0403:Smarcc1'

35711

Institutional Source

Beutler Lab

Gene Symbol

Smarcc1

Ensembl Gene

ENSMUSG00000032481

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

Synonyms

BAF155, SRG3

MMRRC Submission

038608-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0403 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

110117708-110240178 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 110237808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088716] [ENSMUST00000088716] [ENSMUST00000088716] [ENSMUST00000197984] [ENSMUST00000199896] [ENSMUST00000199896] [ENSMUST00000199896]

AlphaFold

P97496

Predicted Effect

probably null
Transcript: ENSMUST00000088716

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.7e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	9.6e-35	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	2.5e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC
low complexity region	1075	1104	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088716

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.7e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	9.6e-35	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	2.5e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC
low complexity region	1075	1104	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088716

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.7e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	9.6e-35	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	2.5e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC
low complexity region	1075	1104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197984

SMART Domains

Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	448	536	1.4e-35	PFAM
SANT	618	666	4.52e-12	SMART
low complexity region	710	717	N/A	INTRINSIC
low complexity region	723	734	N/A	INTRINSIC
low complexity region	768	781	N/A	INTRINSIC
low complexity region	830	839	N/A	INTRINSIC
low complexity region	866	885	N/A	INTRINSIC
coiled coil region	909	945	N/A	INTRINSIC
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198211

Predicted Effect

probably null
Transcript: ENSMUST00000199896

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.5e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	1.4e-34	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	1.4e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000199896

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.5e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	1.4e-34	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	1.4e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000199896

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
CHROMO	214	260	3.06e-3	SMART
low complexity region	321	333	N/A	INTRINSIC
Pfam:SWIRM	450	536	1.5e-33	PFAM
SANT	618	666	4.52e-12	SMART
Pfam:SWIRM-assoc_3	705	771	1.4e-34	PFAM
low complexity region	830	839	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	870	953	1.4e-34	PFAM
low complexity region	955	973	N/A	INTRINSIC
low complexity region	986	1031	N/A	INTRINSIC
low complexity region	1043	1058	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200426

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.0%
3x: 96.8%
10x: 93.2%
20x: 83.7%

Validation Efficiency

97% (110/113)

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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,973,880		probably null	Het
Adgrg3	C	T	8: 95,036,922	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,818,839	C244S	probably damaging	Het
Ap4b1	T	A	3: 103,821,396	M590K	probably benign	Het
Arhgap15	C	T	2: 44,063,766	T168I	probably damaging	Het
Arntl2	T	A	6: 146,822,655	H348Q	probably damaging	Het
Atp8b1	A	G	18: 64,540,310	V997A	probably damaging	Het
Atrn	G	A	2: 130,906,859	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,271,216	A151S	probably benign	Het
Baz2b	A	T	2: 59,969,377	D199E	possibly damaging	Het
Cblb	A	G	16: 52,152,626	D440G	probably benign	Het
Cdon	T	C	9: 35,473,500	V694A	probably benign	Het
Cep250	A	T	2: 155,992,349	R2065W	probably damaging	Het
Ces2b	G	T	8: 104,833,945	A131S	probably damaging	Het
Chrna9	A	T	5: 65,967,892	T59S	possibly damaging	Het
Cog3	T	A	14: 75,742,327		probably benign	Het
Cpa1	G	A	6: 30,641,857	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,998,513	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,249,601		probably null	Het
Ddx60	A	G	8: 61,994,541		probably benign	Het
Dhx16	T	C	17: 35,883,050		probably null	Het
Dnah9	T	A	11: 66,084,789	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,524,070	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,804,436	D325V	probably damaging	Het
Entpd6	C	A	2: 150,760,170	T194K	possibly damaging	Het
Fam208b	A	T	13: 3,582,052	Y816*	probably null	Het
Fat2	A	T	11: 55,270,349	V3185E	probably benign	Het
Flrt1	A	G	19: 7,095,919	L421P	probably benign	Het
Fmn2	A	T	1: 174,694,278	Q1292L	probably damaging	Het
Fndc1	T	C	17: 7,775,588		probably null	Het
Fndc1	T	C	17: 7,753,723	D1459G	probably damaging	Het
Fzr1	A	G	10: 81,369,368	S265P	possibly damaging	Het
Gm13119	A	G	4: 144,362,646	N178S	probably benign	Het
Gm14085	T	C	2: 122,521,854	L364S	probably damaging	Het
Gpr142	G	A	11: 114,806,029	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,357,620	V24L	possibly damaging	Het
Herc2	G	A	7: 56,159,417	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,820,479	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,908,659	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,355,591	I186V	probably benign	Het
Itga2b	C	T	11: 102,467,326		probably null	Het
Itgae	A	C	11: 73,123,183	D736A	possibly damaging	Het
Itpkc	T	A	7: 27,208,345	M645L	probably benign	Het
Jchain	T	C	5: 88,521,378	R139G	probably benign	Het
Kif13a	A	G	13: 46,791,401	V908A	probably damaging	Het
Kif1b	T	A	4: 149,181,967	K389*	probably null	Het
Klhl12	T	C	1: 134,485,856	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,853,053	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191	N27Y	probably damaging	Het
Lpar2	T	A	8: 69,824,152	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,740,979	N128S	probably damaging	Het
Lum	G	T	10: 97,572,043	V337F	probably benign	Het
Mag	T	C	7: 30,906,980	D344G	probably damaging	Het
Maip1	G	A	1: 57,407,196	A142T	probably benign	Het
Mlh3	A	G	12: 85,268,968	V148A	possibly damaging	Het
Nav3	A	G	10: 109,767,103	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,033,337	S868P	possibly damaging	Het
Nek1	A	G	8: 61,106,855	E907G	probably damaging	Het
Nfam1	G	A	15: 83,016,379	T134I	probably benign	Het
Nr0b2	T	C	4: 133,553,759	V112A	probably damaging	Het
Nrp1	A	G	8: 128,457,969	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,369,790	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,934,611	A282V	probably damaging	Het
Nxf1	T	C	19: 8,765,028	I337T	probably damaging	Het
Obscn	C	T	11: 59,076,540	G479D	probably damaging	Het
Olfr45	T	C	7: 140,691,309	S135P	possibly damaging	Het
Oprd1	T	A	4: 132,113,768	D293V	probably benign	Het
P3h2	T	G	16: 25,969,950	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,085,367	Y214C	probably damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Ppic	C	A	18: 53,411,071	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 20,957,041	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,584,102	S46A	probably benign	Het
Prkce	A	G	17: 86,168,653	T21A	probably damaging	Het
Prkg2	T	C	5: 98,994,645	E210G	possibly damaging	Het
Prss35	A	G	9: 86,756,037	M287V	probably damaging	Het
Psd	G	A	19: 46,320,972		probably benign	Het
Ptch2	A	T	4: 117,110,839	K843*	probably null	Het
Rab44	C	A	17: 29,145,261	T603K	probably damaging	Het
Rasal3	T	A	17: 32,392,790		probably null	Het
Rbbp6	A	G	7: 122,992,296	T526A	probably damaging	Het
Ros1	A	T	10: 52,143,438		probably benign	Het
Sec24b	T	A	3: 129,989,676	L1104F	possibly damaging	Het
Sec24b	A	G	3: 129,999,534	S685P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Setmar	A	T	6: 108,075,962	H139L	probably benign	Het
Slc4a7	T	C	14: 14,766,808	V710A	probably benign	Het
Smchd1	G	A	17: 71,394,902	L1032F	probably damaging	Het
Speg	T	C	1: 75,430,784		probably benign	Het
Tcea1	C	G	1: 4,889,503	R134G	probably benign	Het
Tchhl1	C	T	3: 93,471,029	Q347*	probably null	Het
Tecrl	A	T	5: 83,354,758		probably benign	Het
Tepsin	T	C	11: 120,093,682		probably benign	Het
Tmem40	G	A	6: 115,733,985		probably benign	Het
Tpr	G	A	1: 150,407,414		probably benign	Het
Ttll12	A	T	15: 83,580,658		probably benign	Het
Ttn	T	A	2: 76,909,608	D3529V	probably benign	Het
Usp34	T	A	11: 23,333,838	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,338,461	S327T	probably benign	Het
Zbtb4	T	A	11: 69,777,639	M396K	probably damaging	Het
Zfp352	C	T	4: 90,225,009	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,476,845	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,971,689	V65F	possibly damaging	Het

Other mutations in Smarcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Smarcc1	APN	9	110221937	missense	probably damaging	1.00
IGL01152:Smarcc1	APN	9	110139625	missense	possibly damaging	0.89
IGL01353:Smarcc1	APN	9	110135666	missense	probably benign	0.07
IGL01401:Smarcc1	APN	9	110149965	missense	possibly damaging	0.52
IGL01483:Smarcc1	APN	9	110222060	nonsense	probably null
IGL01679:Smarcc1	APN	9	110213530	missense	probably damaging	1.00
IGL02458:Smarcc1	APN	9	110132126	intron	probably benign
IGL02498:Smarcc1	APN	9	110190934	missense	probably damaging	1.00
IGL02605:Smarcc1	APN	9	110222000	missense	possibly damaging	0.86
IGL03003:Smarcc1	APN	9	110206100	missense	probably damaging	0.97
IGL03284:Smarcc1	APN	9	110175074	missense	probably benign	0.30
R0116:Smarcc1	UTSW	9	110147104	missense	possibly damaging	0.71
R1436:Smarcc1	UTSW	9	110118640	unclassified	probably benign
R1583:Smarcc1	UTSW	9	110213617	missense	probably damaging	1.00
R1692:Smarcc1	UTSW	9	110174004	missense	possibly damaging	0.85
R1732:Smarcc1	UTSW	9	110185820	splice site	probably benign
R1833:Smarcc1	UTSW	9	110153811	missense	possibly damaging	0.71
R1881:Smarcc1	UTSW	9	110175099	missense	probably damaging	1.00
R2058:Smarcc1	UTSW	9	110118343	unclassified	probably benign
R2175:Smarcc1	UTSW	9	110164809	missense	possibly damaging	0.71
R2215:Smarcc1	UTSW	9	110237839	utr 3 prime	probably benign
R2904:Smarcc1	UTSW	9	110173975	missense	possibly damaging	0.80
R3899:Smarcc1	UTSW	9	110118518	unclassified	probably benign
R3900:Smarcc1	UTSW	9	110118518	unclassified	probably benign
R4012:Smarcc1	UTSW	9	110132205	missense	possibly damaging	0.96
R4091:Smarcc1	UTSW	9	110164829	missense	possibly damaging	0.84
R4356:Smarcc1	UTSW	9	110196256	missense	probably damaging	0.99
R4881:Smarcc1	UTSW	9	110135628	start gained	probably benign
R4993:Smarcc1	UTSW	9	110175061	missense	probably damaging	1.00
R5110:Smarcc1	UTSW	9	110197784	missense	possibly damaging	0.89
R5375:Smarcc1	UTSW	9	110190949	missense	probably damaging	0.99
R5655:Smarcc1	UTSW	9	110157344	missense	probably null	1.00
R5715:Smarcc1	UTSW	9	110196367	missense	possibly damaging	0.95
R5767:Smarcc1	UTSW	9	110132183	intron	probably benign
R5816:Smarcc1	UTSW	9	110197644	missense	possibly damaging	0.51
R6969:Smarcc1	UTSW	9	110196320	missense	probably damaging	1.00
R7068:Smarcc1	UTSW	9	110185884	missense	probably damaging	1.00
R7211:Smarcc1	UTSW	9	110150014	missense	probably damaging	0.97
R7558:Smarcc1	UTSW	9	110147116	missense	probably damaging	0.96
R7903:Smarcc1	UTSW	9	110204266	missense	probably benign	0.01
R8190:Smarcc1	UTSW	9	110202534	missense	probably benign
R8695:Smarcc1	UTSW	9	110173904	missense	probably damaging	0.98
R8842:Smarcc1	UTSW	9	110222131	missense	possibly damaging	0.60
R9024:Smarcc1	UTSW	9	110185933	missense	probably damaging	0.99
R9131:Smarcc1	UTSW	9	110135642	missense	possibly damaging	0.73
R9180:Smarcc1	UTSW	9	110135660	missense	probably damaging	1.00
R9279:Smarcc1	UTSW	9	110167724	missense	possibly damaging	0.69
R9352:Smarcc1	UTSW	9	110206152	missense	probably null	1.00
R9538:Smarcc1	UTSW	9	110132204	missense	probably benign	0.00
R9645:Smarcc1	UTSW	9	110157342	missense	probably damaging	1.00
T0722:Smarcc1	UTSW	9	110206085	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGAGCAACTTCAGCAGCAGTCG -3'
(R):5'- ACAGGCTTCCCAATGAGTGTCAAC -3'

Sequencing Primer
(F):5'- gcataatggctgaggcagg -3'
(R):5'- CTTCCCAATGAGTGTCAACTAAGG -3'

Posted On

2013-05-09