Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Smarca1'

82914

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

039101-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.750) question?

Stock #

R0972 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

46898247-46981490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46938864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 715 (R715G)

Ref Sequence

ENSEMBL: ENSMUSP00000114296 (fasta)

Gene Model

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

AlphaFold

Q6PGB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077569
AA Change: R708G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076769
Gene: ENSMUSG00000031099
AA Change: R708G

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

possibly damaging
Transcript: ENSMUST00000088973
AA Change: R708G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086366
Gene: ENSMUSG00000031099
AA Change: R708G

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

possibly damaging
Transcript: ENSMUST00000101616
AA Change: R708G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099138
Gene: ENSMUSG00000031099
AA Change: R708G

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

possibly damaging
Transcript: ENSMUST00000153548
AA Change: R715G

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114296
Gene: ENSMUSG00000031099
AA Change: R715G

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

Meta Mutation Damage Score

0.2858

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	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
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
R4790:Smarca1	UTSW	X	46,972,944 (GRCm39)	missense	probably null	0.27
X0017:Smarca1	UTSW	X	46,972,965 (GRCm39)	missense	probably null	0.09

Predicted Primers

PCR Primer
(F):5'- GACTATTCCACTGGCAATGACAAAAGC -3'
(R):5'- TGTATGACTGGAGATAGCATGTAGGGC -3'

Sequencing Primer
(F):5'- CTGGCAATGACAAAAGCAAATATGAC -3'
(R):5'- aggacagaagaggatttcaaataaac -3'

Posted On

2013-11-08