Mutagenetix > Incidental Mutations

Incidental Mutation 'R0599:Smarca1'

55260

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

5730494M04Rik, Snf2l

MMRRC Submission

038788-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R0599 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47809368-47892974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47823426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 982 (Q982L)

Ref Sequence

ENSEMBL: ENSMUSP00000099138 (fasta)

Gene Model

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

AlphaFold

Q6PGB8

Predicted Effect

probably benign
Transcript: ENSMUST00000077569
AA Change: Q982L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000076769
Gene: ENSMUSG00000031099
AA Change: Q982L

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 benign
Transcript: ENSMUST00000088973
AA Change: Q982L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000086366
Gene: ENSMUSG00000031099
AA Change: Q982L

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 benign
Transcript: ENSMUST00000101616
AA Change: Q982L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099138
Gene: ENSMUSG00000031099
AA Change: Q982L

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

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,245	L978P	probably damaging	Het
Abcb1a	C	T	5: 8,698,539	T290M	probably benign	Het
Abcd3	A	T	3: 121,765,093	F585I	probably damaging	Het
Acan	A	G	7: 79,111,290		probably benign	Het
Anxa6	T	C	11: 54,979,466	D667G	possibly damaging	Het
Ap3m2	G	T	8: 22,793,112	A208D	possibly damaging	Het
Arhgap17	A	T	7: 123,303,790		probably benign	Het
Bptf	A	G	11: 107,068,382	V1838A	probably damaging	Het
Brip1	T	A	11: 86,152,737	M334L	probably benign	Het
Btbd10	C	T	7: 113,335,309		probably benign	Het
Btbd11	G	A	10: 85,658,336	G1106D	probably damaging	Het
Cdh7	C	A	1: 110,052,966	T208K	probably damaging	Het
Cnga4	A	G	7: 105,405,818	Y100C	probably damaging	Het
Dnah10	G	A	5: 124,800,953	V2644M	probably damaging	Het
Dnah9	T	C	11: 65,965,689	D2882G	probably damaging	Het
Eapp	T	A	12: 54,685,962	K117M	probably damaging	Het
Eml3	T	C	19: 8,939,063	V673A	probably benign	Het
Ephb4	G	A	5: 137,369,855	C754Y	probably damaging	Het
Eps8l1	A	G	7: 4,477,957	D33G	possibly damaging	Het
Farsa	A	G	8: 84,867,583	K321E	probably damaging	Het
Fry	G	A	5: 150,437,159	R2090Q	probably damaging	Het
Gm10283	A	G	8: 60,501,224		probably benign	Het
Grm4	A	G	17: 27,431,490	I844T	probably benign	Het
Gtf2h3	A	G	5: 124,588,628	D124G	probably benign	Het
Gulo	A	T	14: 65,990,441	D347E	probably damaging	Het
Hmcn1	A	G	1: 150,609,801	F4350S	possibly damaging	Het
Hspg2	A	G	4: 137,512,401	D473G	probably damaging	Het
Il17ra	T	A	6: 120,481,505	I539N	probably damaging	Het
Insrr	A	G	3: 87,813,133	E1026G	probably damaging	Het
Itga2	A	T	13: 114,856,650		probably benign	Het
Kdm1b	A	T	13: 47,058,810	D190V	possibly damaging	Het
Lima1	A	T	15: 99,802,159	N146K	probably damaging	Het
Mettl7a3	A	T	15: 100,335,383	N152Y	possibly damaging	Het
Mnt	G	T	11: 74,842,296	V85L	probably benign	Het
Mon2	T	A	10: 123,026,065		probably benign	Het
Mtf1	T	C	4: 124,820,201		probably benign	Het
Mylk4	T	C	13: 32,712,754		probably null	Het
Myo18b	A	C	5: 112,865,750	L780R	probably damaging	Het
Myo1e	A	G	9: 70,376,660		probably benign	Het
Obscn	A	G	11: 59,073,696	S705P	probably damaging	Het
Ocrl	A	T	X: 47,936,086		probably benign	Het
Olfr1260	T	C	2: 89,978,201	F141S	probably benign	Het
Olfr394	A	T	11: 73,887,904	M156K	probably benign	Het
Olfr599	A	G	7: 103,338,186	N44S	probably damaging	Het
Olfr639	A	T	7: 104,012,188	C171*	probably null	Het
Otof	T	A	5: 30,370,705	K1931N	probably damaging	Het
Plcxd3	A	G	15: 4,516,867	S118G	probably damaging	Het
Plcz1	T	A	6: 140,028,542	Q58L	probably benign	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Rassf4	T	C	6: 116,645,936	E38G	probably damaging	Het
Ros1	A	T	10: 52,123,300	Y1164N	probably damaging	Het
Rpgrip1l	A	G	8: 91,305,000	I83T	probably damaging	Het
Scn9a	T	G	2: 66,526,799	K1053Q	probably damaging	Het
Sgsm1	G	T	5: 113,245,028	Q1087K	probably damaging	Het
Slc16a10	T	C	10: 40,141,918	D40G	probably benign	Het
Slc27a6	A	G	18: 58,556,813	D117G	probably damaging	Het
Slc2a9	T	A	5: 38,480,144		probably benign	Het
Slc4a1	A	G	11: 102,357,915		probably benign	Het
Sp100	T	A	1: 85,681,110	I320N	possibly damaging	Het
Stx8	A	T	11: 68,109,362	R209S	probably null	Het
Sulf2	T	C	2: 166,083,879	T453A	possibly damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tenm2	T	A	11: 36,024,780	I1976F	possibly damaging	Het
Tenm3	G	A	8: 48,277,710	S1341L	probably damaging	Het
Tmem130	C	T	5: 144,737,809	V369M	probably damaging	Het
Tmem200c	A	G	17: 68,840,511	K30E	probably damaging	Het
Tmem225	A	G	9: 40,149,747	I117V	possibly damaging	Het
Top2a	A	G	11: 99,001,417	I1073T	probably damaging	Het
Trps1	A	C	15: 50,831,860	Y296*	probably null	Het
Tubg1	T	C	11: 101,125,336	M377T	probably benign	Het
Vmn1r35	G	A	6: 66,679,513	H58Y	probably benign	Het
Vmn1r56	G	A	7: 5,196,430	H63Y	probably benign	Het
Vmn1r75	T	C	7: 11,881,262		probably null	Het
Vnn3	T	C	10: 23,865,705	S303P	possibly damaging	Het
Wdr49	C	T	3: 75,431,076		probably null	Het
Wdr49	T	C	3: 75,449,890		probably null	Het
Zcchc6	A	G	13: 59,809,487	V7A	probably damaging	Het
Zzef1	T	C	11: 72,913,178	L2582P	probably damaging	Het

Other mutations in Smarca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Smarca1	APN	X	47858301	nonsense	probably null
IGL01410:Smarca1	APN	X	47892378	missense	possibly damaging	0.66
IGL02085:Smarca1	APN	X	47875232	missense	probably damaging	1.00
IGL03342:Smarca1	APN	X	47892269	missense	probably damaging	0.96
R0972:Smarca1	UTSW	X	47849987	missense	possibly damaging	0.84
R1902:Smarca1	UTSW	X	47849963	nonsense	probably null
R1903:Smarca1	UTSW	X	47849963	nonsense	probably null
R1968:Smarca1	UTSW	X	47852687	missense	probably damaging	1.00
R2264:Smarca1	UTSW	X	47875283	missense	probably benign	0.05
R4790:Smarca1	UTSW	X	47884067	missense	probably null	0.27
X0017:Smarca1	UTSW	X	47884088	missense	probably null	0.09

Predicted Primers

PCR Primer
(F):5'- TGTGTGCCTGTGCAAGCGT -3'
(R):5'- TGCAAGATACAAGGCTCCATTTCATCA -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtTTTAGC -3'
(R):5'- CAGTTGCGTATTCAGTATGGAACC -3'

Posted On

2013-07-11