Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:Smarca1'

368528

Institutional Source

Beutler Lab

Gene Symbol

Smarca1

Ensembl Gene

ENSMUSG00000031099

Gene Name

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

Synonyms

Snf2l, 5730494M04Rik

MMRRC Submission

042418-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R4790 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

46898247-46981490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46972944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 132 (D132G)

Ref Sequence

ENSEMBL: ENSMUSP00000114296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077569] [ENSMUST00000088973] [ENSMUST00000101616] [ENSMUST00000141084] [ENSMUST00000153548] [ENSMUST00000153587]

AlphaFold

Q6PGB8

Predicted Effect

probably null
Transcript: ENSMUST00000077569
AA Change: D137G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076769
Gene: ENSMUSG00000031099
AA Change: D137G

Domain	Start	End	E-Value	Type
Pfam:DBINO	44	123	2.4e-8	PFAM
low complexity region	154	165	N/A	INTRINSIC
DEXDc	183	375	2.08e-42	SMART
Blast:DEXDc	394	429	2e-12	BLAST
HELICc	520	604	7.21e-28	SMART
SANT	848	897	1.92e-6	SMART
SANT	950	1014	1.28e-2	SMART
low complexity region	1015	1037	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088973
AA Change: D137G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000086366
Gene: ENSMUSG00000031099
AA Change: D137G

Domain	Start	End	E-Value	Type
Pfam:DBINO	44	123	2.4e-8	PFAM
low complexity region	154	165	N/A	INTRINSIC
DEXDc	183	375	2.08e-42	SMART
Blast:DEXDc	394	429	2e-12	BLAST
HELICc	520	604	7.21e-28	SMART
SANT	848	897	1.92e-6	SMART
SANT	950	1014	1.28e-2	SMART
low complexity region	1015	1037	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000101616
AA Change: D137G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099138
Gene: ENSMUSG00000031099
AA Change: D137G

Domain	Start	End	E-Value	Type
Pfam:DBINO	48	120	2.1e-8	PFAM
low complexity region	154	165	N/A	INTRINSIC
DEXDc	183	375	2.08e-42	SMART
Blast:DEXDc	394	429	2e-12	BLAST
HELICc	520	604	7.21e-28	SMART
SANT	848	897	1.92e-6	SMART
SANT	950	1014	1.28e-2	SMART
low complexity region	1015	1037	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000141084
AA Change: D132G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135570
Gene: ENSMUSG00000031099
AA Change: D132G

Domain	Start	End	E-Value	Type
Pfam:DBINO	42	118	3.7e-10	PFAM
low complexity region	149	160	N/A	INTRINSIC
DEXDc	178	371	2.94e-42	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000153548
AA Change: D132G

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114296
Gene: ENSMUSG00000031099
AA Change: D132G

Domain	Start	End	E-Value	Type
Pfam:DBINO	42	118	7e-10	PFAM
low complexity region	149	160	N/A	INTRINSIC
DEXDc	178	370	2.08e-42	SMART
Blast:DEXDc	389	424	1e-12	BLAST
HELICc	515	611	8.55e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000153587

SMART Domains

Protein: ENSMUSP00000116209
Gene: ENSMUSG00000031099

Domain	Start	End	E-Value	Type
low complexity region	76	99	N/A	INTRINSIC
low complexity region	106	115	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Female mice homozygous and male mice hemizygous for a targeted disruption of this gene exhibit abnormalities in neuron differentiation and neuronal precursor proliferation, increased brain and heart weight, and forebrain hypercellularity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,202,236 (GRCm39)	T390P	possibly damaging	Het
Acss3	A	T	10: 106,859,563 (GRCm39)	Y345*	probably null	Het
Adam26b	A	T	8: 43,973,764 (GRCm39)	S413T	probably benign	Het
Angpt2	T	A	8: 18,764,098 (GRCm39)	Q148L	probably damaging	Het
Ank3	T	A	10: 69,823,981 (GRCm39)	Y883*	probably null	Het
Ankrd52	A	G	10: 128,216,814 (GRCm39)	K190E	possibly damaging	Het
Anks1b	A	G	10: 89,999,137 (GRCm39)	R415G	probably damaging	Het
Ano3	T	A	2: 110,715,264 (GRCm39)	Q58L	probably benign	Het
Aoc1l2	T	A	6: 48,907,486 (GRCm39)	I162N	probably damaging	Het
Arhgap39	A	T	15: 76,610,931 (GRCm39)	M924K	possibly damaging	Het
AU040320	A	G	4: 126,741,008 (GRCm39)	M910V	possibly damaging	Het
BC051019	T	A	7: 109,315,553 (GRCm39)	H86L	probably benign	Het
C1qbp	G	A	11: 70,870,856 (GRCm39)	Q151*	probably null	Het
C4b	G	T	17: 34,953,117 (GRCm39)	D1069E	probably benign	Het
Casp1	C	T	9: 5,303,020 (GRCm39)	T158I	probably benign	Het
Casq1	T	C	1: 172,044,404 (GRCm39)	D141G	probably damaging	Het
Ccdc33	T	A	9: 57,937,240 (GRCm39)	E653V	probably damaging	Het
Cd180	C	T	13: 102,839,330 (GRCm39)	T71M	probably damaging	Het
Cdk4	T	C	10: 126,900,570 (GRCm39)	L112P	probably damaging	Het
Celf2	A	G	2: 6,554,714 (GRCm39)	F425S	probably damaging	Het
Chrm3	A	T	13: 9,927,698 (GRCm39)	V446E	probably benign	Het
Chst9	A	T	18: 15,586,107 (GRCm39)	L152H	probably damaging	Het
Cib2	A	G	9: 54,457,087 (GRCm39)		probably null	Het
Clec18a	T	C	8: 111,798,717 (GRCm39)	S366G	probably damaging	Het
Crebbp	A	G	16: 3,997,983 (GRCm39)	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,870,919 (GRCm39)		probably null	Het
Ddi1	T	A	9: 6,265,761 (GRCm39)	M203L	probably benign	Het
Ddx20	G	T	3: 105,590,485 (GRCm39)	S270R	probably benign	Het
Eddm13	A	T	7: 6,269,317 (GRCm39)	K31*	probably null	Het
Espnl	A	T	1: 91,272,146 (GRCm39)	E458V	probably damaging	Het
Fat3	T	C	9: 15,909,780 (GRCm39)	D2074G	probably damaging	Het
Fcf1	A	G	12: 85,020,902 (GRCm39)	T61A	probably benign	Het
Fkbp15	T	C	4: 62,226,234 (GRCm39)	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661 (GRCm38)	V1137A	probably benign	Het
Fosb	C	A	7: 19,043,313 (GRCm39)	C15F	probably damaging	Het
Frem2	A	T	3: 53,424,162 (GRCm39)	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831 (GRCm38)	I28V	probably damaging	Het
Gm4922	G	T	10: 18,659,916 (GRCm39)	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,119,274 (GRCm39)	R627W	probably damaging	Het
Hephl1	T	A	9: 14,970,467 (GRCm39)	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,997,237 (GRCm39)	Q61L	probably damaging	Het
Itgam	T	A	7: 127,715,445 (GRCm39)	N1046K	probably benign	Het
Itgav	G	A	2: 83,586,154 (GRCm39)	C138Y	probably damaging	Het
Itih4	A	T	14: 30,611,867 (GRCm39)	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,282,254 (GRCm39)	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,708,618 (GRCm39)	V986M	probably damaging	Het
Lamb3	T	A	1: 193,022,194 (GRCm39)	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,367,717 (GRCm39)	N282K	probably damaging	Het
Map3k20	T	A	2: 72,272,048 (GRCm39)	H725Q	probably benign	Het
Mink1	A	G	11: 70,489,867 (GRCm39)	N81S	probably damaging	Het
Mmp21	A	G	7: 133,276,759 (GRCm39)	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,466,873 (GRCm39)	W1297R	probably damaging	Het
Myh8	T	C	11: 67,170,789 (GRCm39)	M95T	probably damaging	Het
Myo7b	A	T	18: 32,133,158 (GRCm39)		probably null	Het
Nanog	A	G	6: 122,684,874 (GRCm39)	M20V	probably benign	Het
Ncapd3	A	G	9: 26,963,146 (GRCm39)	I484V	probably benign	Het
Ndufa12	A	T	10: 94,056,620 (GRCm39)	N116I	probably benign	Het
Nedd4l	A	G	18: 65,337,016 (GRCm39)	I668V	possibly damaging	Het
Nhsl3	C	A	4: 129,117,095 (GRCm39)	R523L	probably damaging	Het
Nobox	T	C	6: 43,282,480 (GRCm39)	D309G	probably benign	Het
Npnt	A	G	3: 132,596,523 (GRCm39)		probably benign	Het
Nrxn1	A	C	17: 90,762,477 (GRCm39)	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,568,502 (GRCm39)	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14j8	T	C	17: 38,263,633 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	C	G	7: 106,340,998 (GRCm39)	V48L	probably benign	Het
Or4s2b	T	A	2: 88,508,731 (GRCm39)	N177K	possibly damaging	Het
Or56a3	T	C	7: 104,735,844 (GRCm39)		probably benign	Het
Or5ac20	A	T	16: 59,104,821 (GRCm39)	V13D	probably damaging	Het
Or5an10	A	G	19: 12,276,305 (GRCm39)	Y64H	possibly damaging	Het
Or8k32	T	C	2: 86,369,224 (GRCm39)	T10A	possibly damaging	Het
Osm	A	T	11: 4,188,435 (GRCm39)	M21L	probably benign	Het
Otogl	T	A	10: 107,657,894 (GRCm39)		probably null	Het
Otud4	T	G	8: 80,393,402 (GRCm39)	S493A	possibly damaging	Het
Pars2	A	G	4: 106,508,308 (GRCm39)		probably benign	Het
Phlda3	T	A	1: 135,694,557 (GRCm39)	V124E	possibly damaging	Het
Pias4	T	C	10: 80,993,326 (GRCm39)	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,739,777 (GRCm39)	L375P	probably benign	Het
Pole2	T	C	12: 69,273,139 (GRCm39)	I48V	probably benign	Het
Prrc2c	T	C	1: 162,538,050 (GRCm39)	R527G	unknown	Het
Rasgrf2	G	T	13: 92,136,135 (GRCm39)	N592K	probably damaging	Het
Rbm7	A	G	9: 48,406,474 (GRCm39)	L26P	probably damaging	Het
Rhag	A	G	17: 41,142,181 (GRCm39)	H208R	probably benign	Het
Rnf17	A	G	14: 56,671,812 (GRCm39)	E268G	probably damaging	Het
Rnf220	A	G	4: 117,146,252 (GRCm39)	V23A	probably benign	Het
Rnf7	A	T	9: 96,360,472 (GRCm39)	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,739,448 (GRCm39)	R188S	possibly damaging	Het
Senp6	T	A	9: 79,997,140 (GRCm39)	N51K	probably benign	Het
Skint3	C	A	4: 112,113,095 (GRCm39)	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,400,096 (GRCm39)	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,758,690 (GRCm39)	G111R	probably damaging	Het
Snrnp48	C	T	13: 38,405,299 (GRCm39)	R299W	probably damaging	Het
Sspo	G	A	6: 48,437,705 (GRCm39)	G1413D	probably benign	Het
Star	T	A	8: 26,298,644 (GRCm39)	H16Q	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Sulf2	T	C	2: 165,931,215 (GRCm39)	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,680,248 (GRCm39)	S6P	possibly damaging	Het
Syne2	A	G	12: 76,067,165 (GRCm39)	D4289G	probably benign	Het
Szrd1	A	T	4: 140,867,001 (GRCm39)		probably null	Het
Tada1	T	C	1: 166,219,523 (GRCm39)	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,641,932 (GRCm39)	Y136F	probably benign	Het
Tbx20	T	A	9: 24,637,010 (GRCm39)	H359L	probably benign	Het
Thbs4	G	T	13: 92,899,314 (GRCm39)	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,497,740 (GRCm39)	H164R	probably damaging	Het
Trmu	T	C	15: 85,767,006 (GRCm39)	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 106,560,155 (GRCm39)	Q36K	probably benign	Het
Ttc28	T	A	5: 111,372,083 (GRCm39)	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,579,201 (GRCm39)	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 87,984,009 (GRCm39)	M269K	probably damaging	Het
Urb1	A	T	16: 90,566,443 (GRCm39)	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,269,855 (GRCm39)	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,370,949 (GRCm39)	N699S	probably damaging	Het
Vps35	A	T	8: 86,005,486 (GRCm39)		probably null	Het
Yipf1	G	T	4: 107,193,396 (GRCm39)		probably null	Het
Zfp395	A	G	14: 65,623,990 (GRCm39)	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,630,656 (GRCm39)	D402G	probably damaging	Het
Zfp652	T	C	11: 95,640,435 (GRCm39)	V120A	probably damaging	Het
Zp3r	T	C	1: 130,510,629 (GRCm39)	I364M	probably damaging	Het

Other mutations in Smarca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Smarca1	APN	X	46,947,178 (GRCm39)	nonsense	probably null
IGL01410:Smarca1	APN	X	46,981,255 (GRCm39)	missense	possibly damaging	0.66
IGL02085:Smarca1	APN	X	46,964,109 (GRCm39)	missense	probably damaging	1.00
IGL03342:Smarca1	APN	X	46,981,146 (GRCm39)	missense	probably damaging	0.96
R0599:Smarca1	UTSW	X	46,912,303 (GRCm39)	missense	probably benign	0.00
R0972:Smarca1	UTSW	X	46,938,864 (GRCm39)	missense	possibly damaging	0.84
R1902:Smarca1	UTSW	X	46,938,840 (GRCm39)	nonsense	probably null
R1903:Smarca1	UTSW	X	46,938,840 (GRCm39)	nonsense	probably null
R1968:Smarca1	UTSW	X	46,941,564 (GRCm39)	missense	probably damaging	1.00
R2264:Smarca1	UTSW	X	46,964,160 (GRCm39)	missense	probably benign	0.05
X0017:Smarca1	UTSW	X	46,972,965 (GRCm39)	missense	probably null	0.09

Predicted Primers

PCR Primer
(F):5'- CATAGAATGTGGTAGAAGCAGTCTA -3'
(R):5'- AAAAGCAACTCTTTCCCTTTCCC -3'

Sequencing Primer
(F):5'- TTGTTTGTTTGGTCGGTTGG -3'
(R):5'- CCCTCTCCTTTGTAAATTAGAAAGC -3'

Posted On

2016-02-04