Mutagenetix > Incidental Mutation

Incidental Mutation 'R5715:Smarcc1'

451122

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, msp3

MMRRC Submission

043336-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109961129-110069773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110025435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 704 (V704A)

Ref Sequence

ENSEMBL: ENSMUSP00000142611 (fasta)

Gene Model

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

AlphaFold

P97496

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088716
AA Change: V704A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: V704A

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

possibly damaging
Transcript: ENSMUST00000197984
AA Change: V704A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: V704A

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

noncoding transcript
Transcript: ENSMUST00000198667

Predicted Effect

probably benign
Transcript: ENSMUST00000199896
AA Change: V704A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: V704A

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: ENSMUST00000200237

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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. [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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,910,777 (GRCm39)	Y552F	probably damaging	Het
Asprv1	T	A	6: 86,605,596 (GRCm39)	D147E	probably benign	Het
Atg4c	G	T	4: 99,146,639 (GRCm39)	L405F	probably damaging	Het
Birc6	C	T	17: 74,938,615 (GRCm39)	L2670F	probably damaging	Het
Cdc20	T	C	4: 118,292,015 (GRCm39)	D379G	probably damaging	Het
Chd6	T	C	2: 160,791,798 (GRCm39)	M2520V	probably benign	Het
Clca4b	A	G	3: 144,619,018 (GRCm39)	V707A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,523,347 (GRCm39)	C2743*	probably null	Het
Coq6	C	A	12: 84,413,681 (GRCm39)	D70E	probably benign	Het
Cspg4	T	A	9: 56,798,335 (GRCm39)	V1450D	possibly damaging	Het
Dnah7a	A	G	1: 53,452,937 (GRCm39)	L3847P	probably damaging	Het
Drd2	T	A	9: 49,316,189 (GRCm39)	H316Q	probably benign	Het
Dusp19	T	A	2: 80,461,330 (GRCm39)	N206K	probably benign	Het
Fam13c	T	G	10: 70,370,670 (GRCm39)	F270C	probably damaging	Het
Fam20a	T	C	11: 109,569,257 (GRCm39)	E246G	probably damaging	Het
Fbxo31	A	G	8: 122,305,302 (GRCm39)	F65L	probably damaging	Het
Fshr	T	A	17: 89,293,824 (GRCm39)		probably null	Het
Fstl4	T	C	11: 52,891,243 (GRCm39)	V127A	possibly damaging	Het
Gdpd4	A	T	7: 97,610,804 (GRCm39)	I75F	probably benign	Het
Grm5	C	A	7: 87,779,464 (GRCm39)	A968E	probably benign	Het
Gucy2g	A	C	19: 55,221,587 (GRCm39)	F305V	possibly damaging	Het
Hivep3	T	C	4: 119,953,570 (GRCm39)	F629L	probably benign	Het
Hoxb1	A	G	11: 96,257,152 (GRCm39)	E167G	probably benign	Het
Hoxd4	T	C	2: 74,557,708 (GRCm39)	L29P	probably damaging	Het
Ikbkb	A	G	8: 23,168,866 (GRCm39)	L211P	probably damaging	Het
Insc	T	C	7: 114,449,076 (GRCm39)	V499A	probably benign	Het
Irak3	A	T	10: 119,978,641 (GRCm39)	H511Q	possibly damaging	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Lurap1l	T	A	4: 80,871,958 (GRCm39)	S150R	possibly damaging	Het
Mab21l3	C	T	3: 101,730,723 (GRCm39)	R172Q	probably benign	Het
Macf1	T	C	4: 123,577,807 (GRCm39)	D59G	probably damaging	Het
Mettl21a	A	T	1: 64,654,314 (GRCm39)	S68T	probably benign	Het
Mlxip	T	A	5: 123,578,121 (GRCm39)	W146R	probably damaging	Het
Mpp2	T	A	11: 101,953,087 (GRCm39)	N285I	probably damaging	Het
Mrgprb4	T	C	7: 47,848,787 (GRCm39)	N47S	probably damaging	Het
Msi2	A	G	11: 88,276,889 (GRCm39)	Y237H	probably damaging	Het
Muc4	C	T	16: 32,570,734 (GRCm39)	T598I	possibly damaging	Het
Musk	A	T	4: 58,333,663 (GRCm39)	I253F	probably damaging	Het
Myo5b	G	T	18: 74,875,246 (GRCm39)	C1550F	possibly damaging	Het
Nckap5l	T	C	15: 99,321,457 (GRCm39)	T1137A	probably benign	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nxph1	T	A	6: 9,247,740 (GRCm39)	V237E	probably damaging	Het
Or52a33	A	C	7: 103,289,009 (GRCm39)	S113A	probably damaging	Het
Pla2g12a	A	G	3: 129,688,591 (GRCm39)	K150E	probably damaging	Het
Potegl	T	C	2: 23,097,989 (GRCm39)	Y56H	possibly damaging	Het
Pramel30	A	G	4: 144,057,870 (GRCm39)	D159G	possibly damaging	Het
Ptpn23	G	A	9: 110,216,143 (GRCm39)	R1238W	probably damaging	Het
Pts	C	T	9: 50,433,578 (GRCm39)	G124R	probably damaging	Het
Rfk	A	T	19: 17,376,002 (GRCm39)	I99F	probably benign	Het
Rictor	A	T	15: 6,780,197 (GRCm39)	R151*	probably null	Het
Scn2a	T	A	2: 65,547,928 (GRCm39)	I1040N	probably benign	Het
Serinc5	A	C	13: 92,842,710 (GRCm39)	T387P	probably damaging	Het
Sh3bp5l	A	G	11: 58,236,841 (GRCm39)	Q266R	possibly damaging	Het
Slc14a2	T	C	18: 78,201,551 (GRCm39)	Y656C	probably damaging	Het
Slc26a3	T	A	12: 31,498,842 (GRCm39)		probably null	Het
Slc3a2	G	T	19: 8,685,594 (GRCm39)	H168Q	probably benign	Het
Smarca2	A	T	19: 26,626,522 (GRCm39)	I449L	probably benign	Het
Sox13	A	G	1: 133,313,921 (GRCm39)		probably null	Het
Sptbn5	T	C	2: 119,902,985 (GRCm39)	E7G	probably damaging	Het
Stard10	A	G	7: 100,971,110 (GRCm39)	D26G	probably damaging	Het
Tap1	A	T	17: 34,411,868 (GRCm39)	R91*	probably null	Het
Tgfbrap1	A	T	1: 43,099,097 (GRCm39)	V239D	possibly damaging	Het
Tmem209	A	T	6: 30,497,922 (GRCm39)	Y124*	probably null	Het
Tmprss2	T	A	16: 97,370,183 (GRCm39)	E327V	possibly damaging	Het
Ttbk1	T	C	17: 46,790,133 (GRCm39)	Y104C	probably damaging	Het
Ttll10	A	T	4: 156,129,848 (GRCm39)	F154I	probably damaging	Het
Ubn2	T	A	6: 38,438,412 (GRCm39)	Y40*	probably null	Het
Ubr5	A	T	15: 38,002,477 (GRCm39)	S1519T	probably benign	Het
Ugt3a1	A	C	15: 9,306,430 (GRCm39)	D193A	probably damaging	Het
Upf1	A	T	8: 70,805,628 (GRCm39)	Y6N	probably damaging	Het
Vmn2r103	A	T	17: 20,015,201 (GRCm39)	D447V	probably benign	Het
Vps39	T	C	2: 120,155,717 (GRCm39)	N519S	possibly damaging	Het
Zfp109	T	C	7: 23,928,995 (GRCm39)	E138G	possibly damaging	Het
Znrf3	A	C	11: 5,236,239 (GRCm39)	V157G	possibly damaging	Het

Other mutations in Smarcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Smarcc1	APN	9	110,051,005 (GRCm39)	missense	probably damaging	1.00
IGL01152:Smarcc1	APN	9	109,968,693 (GRCm39)	missense	possibly damaging	0.89
IGL01353:Smarcc1	APN	9	109,964,734 (GRCm39)	missense	probably benign	0.07
IGL01401:Smarcc1	APN	9	109,979,033 (GRCm39)	missense	possibly damaging	0.52
IGL01483:Smarcc1	APN	9	110,051,128 (GRCm39)	nonsense	probably null
IGL01679:Smarcc1	APN	9	110,042,598 (GRCm39)	missense	probably damaging	1.00
IGL02458:Smarcc1	APN	9	109,961,194 (GRCm39)	intron	probably benign
IGL02498:Smarcc1	APN	9	110,020,002 (GRCm39)	missense	probably damaging	1.00
IGL02605:Smarcc1	APN	9	110,051,068 (GRCm39)	missense	possibly damaging	0.86
IGL03003:Smarcc1	APN	9	110,035,168 (GRCm39)	missense	probably damaging	0.97
IGL03284:Smarcc1	APN	9	110,004,142 (GRCm39)	missense	probably benign	0.30
R0116:Smarcc1	UTSW	9	109,976,172 (GRCm39)	missense	possibly damaging	0.71
R0403:Smarcc1	UTSW	9	110,066,876 (GRCm39)	splice site	probably null
R1436:Smarcc1	UTSW	9	109,947,708 (GRCm39)	unclassified	probably benign
R1583:Smarcc1	UTSW	9	110,042,685 (GRCm39)	missense	probably damaging	1.00
R1692:Smarcc1	UTSW	9	110,003,072 (GRCm39)	missense	possibly damaging	0.85
R1732:Smarcc1	UTSW	9	110,014,888 (GRCm39)	splice site	probably benign
R1833:Smarcc1	UTSW	9	109,982,879 (GRCm39)	missense	possibly damaging	0.71
R1881:Smarcc1	UTSW	9	110,004,167 (GRCm39)	missense	probably damaging	1.00
R2058:Smarcc1	UTSW	9	109,947,411 (GRCm39)	unclassified	probably benign
R2175:Smarcc1	UTSW	9	109,993,877 (GRCm39)	missense	possibly damaging	0.71
R2215:Smarcc1	UTSW	9	110,066,907 (GRCm39)	utr 3 prime	probably benign
R2904:Smarcc1	UTSW	9	110,003,043 (GRCm39)	missense	possibly damaging	0.80
R3899:Smarcc1	UTSW	9	109,947,586 (GRCm39)	unclassified	probably benign
R3900:Smarcc1	UTSW	9	109,947,586 (GRCm39)	unclassified	probably benign
R4012:Smarcc1	UTSW	9	109,961,273 (GRCm39)	missense	possibly damaging	0.96
R4091:Smarcc1	UTSW	9	109,993,897 (GRCm39)	missense	possibly damaging	0.84
R4356:Smarcc1	UTSW	9	110,025,324 (GRCm39)	missense	probably damaging	0.99
R4881:Smarcc1	UTSW	9	109,964,696 (GRCm39)	start gained	probably benign
R4993:Smarcc1	UTSW	9	110,004,129 (GRCm39)	missense	probably damaging	1.00
R5110:Smarcc1	UTSW	9	110,026,852 (GRCm39)	missense	possibly damaging	0.89
R5375:Smarcc1	UTSW	9	110,020,017 (GRCm39)	missense	probably damaging	0.99
R5655:Smarcc1	UTSW	9	109,986,412 (GRCm39)	missense	probably null	1.00
R5767:Smarcc1	UTSW	9	109,961,251 (GRCm39)	intron	probably benign
R5816:Smarcc1	UTSW	9	110,026,712 (GRCm39)	missense	possibly damaging	0.51
R6969:Smarcc1	UTSW	9	110,025,388 (GRCm39)	missense	probably damaging	1.00
R7068:Smarcc1	UTSW	9	110,014,952 (GRCm39)	missense	probably damaging	1.00
R7211:Smarcc1	UTSW	9	109,979,082 (GRCm39)	missense	probably damaging	0.97
R7558:Smarcc1	UTSW	9	109,976,184 (GRCm39)	missense	probably damaging	0.96
R7903:Smarcc1	UTSW	9	110,033,334 (GRCm39)	missense	probably benign	0.01
R8190:Smarcc1	UTSW	9	110,031,602 (GRCm39)	missense	probably benign
R8695:Smarcc1	UTSW	9	110,002,972 (GRCm39)	missense	probably damaging	0.98
R8842:Smarcc1	UTSW	9	110,051,199 (GRCm39)	missense	possibly damaging	0.60
R9024:Smarcc1	UTSW	9	110,015,001 (GRCm39)	missense	probably damaging	0.99
R9131:Smarcc1	UTSW	9	109,964,710 (GRCm39)	missense	possibly damaging	0.73
R9180:Smarcc1	UTSW	9	109,964,728 (GRCm39)	missense	probably damaging	1.00
R9279:Smarcc1	UTSW	9	109,996,792 (GRCm39)	missense	possibly damaging	0.69
R9352:Smarcc1	UTSW	9	110,035,220 (GRCm39)	missense	probably null	1.00
R9538:Smarcc1	UTSW	9	109,961,272 (GRCm39)	missense	probably benign	0.00
R9645:Smarcc1	UTSW	9	109,986,410 (GRCm39)	missense	probably damaging	1.00
T0722:Smarcc1	UTSW	9	110,035,153 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GTCAGAACATGTTGGAAGCC -3'
(R):5'- GTGAGGCCGTCTAGTTCTAC -3'

Sequencing Primer
(F):5'- ACATGTTGGAAGCCGTACTC -3'
(R):5'- TCTAGTTCTACCTCCCAGGAGAAATG -3'

Posted On

2017-01-03