Mutagenetix > Incidental Mutation

Incidental Mutation 'R5632:Smarcb1'

439931

Institutional Source

Beutler Lab

Gene Symbol

Smarcb1

Ensembl Gene

ENSMUSG00000000902

Gene Name

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

Synonyms

Ini1, SNF5/INI1, Baf47, Snf5, integrase interactor 1

MMRRC Submission

043283-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75732603-75757448 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 75740252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 309 (Q309*)

Ref Sequence

ENSEMBL: ENSMUSP00000112463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000121304] [ENSMUST00000140388]

AlphaFold

Q9Z0H3

Predicted Effect

probably null
Transcript: ENSMUST00000000925
AA Change: Q318*

SMART Domains

Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902
AA Change: Q318*

Domain	Start	End	E-Value	Type
Blast:HX	31	52	9e-8	BLAST
Pfam:SNF5	179	254	1.1e-27	PFAM
Pfam:SNF5	249	373	3.1e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121304
AA Change: Q309*

SMART Domains

Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902
AA Change: Q309*

Domain	Start	End	E-Value	Type
Blast:HX	31	52	9e-8	BLAST
Pfam:SNF5	169	364	1.7e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133189

Predicted Effect

probably benign
Transcript: ENSMUST00000140388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140408

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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 part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,664,076 (GRCm39)	T7A	probably benign	Het
Adam33	T	G	2: 130,895,362 (GRCm39)	D619A	probably damaging	Het
Ajm1	T	C	2: 25,469,276 (GRCm39)	T212A	probably benign	Het
Aldh3b3	C	T	19: 4,018,522 (GRCm39)		probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Arhgef40	C	A	14: 52,231,795 (GRCm39)	T727K	probably damaging	Het
Arrdc1	T	C	2: 24,817,840 (GRCm39)	T43A	probably benign	Het
Bcl2l15	A	G	3: 103,743,378 (GRCm39)	N93S	probably benign	Het
Cd5l	G	T	3: 87,273,414 (GRCm39)	E128*	probably null	Het
Cep97	T	C	16: 55,735,946 (GRCm39)	D284G	probably benign	Het
Ckmt1	T	A	2: 121,191,073 (GRCm39)	S162T	probably damaging	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cpeb4	A	G	11: 31,839,877 (GRCm39)	D53G	probably damaging	Het
Crocc2	T	A	1: 93,145,575 (GRCm39)	S1485R	probably damaging	Het
Dcaf5	G	A	12: 80,444,526 (GRCm39)	A189V	probably damaging	Het
Duox2	C	T	2: 122,111,936 (GRCm39)	G1355S	probably damaging	Het
Fam120b	C	T	17: 15,623,344 (GRCm39)	P441S	probably benign	Het
Fbxo41	A	G	6: 85,461,486 (GRCm39)	L74P	probably damaging	Het
H2-DMa	A	G	17: 34,356,975 (GRCm39)	T158A	probably benign	Het
Hcar2	T	A	5: 124,002,532 (GRCm39)	T324S	probably benign	Het
Hif3a	T	C	7: 16,784,580 (GRCm39)	I222V	possibly damaging	Het
Ighv1-7	A	G	12: 114,502,501 (GRCm39)		probably benign	Het
Il20	T	C	1: 130,835,165 (GRCm39)	E151G	probably benign	Het
Jarid2	A	G	13: 45,049,766 (GRCm39)	E236G	probably damaging	Het
Knl1	T	C	2: 118,900,833 (GRCm39)	S845P	probably damaging	Het
Lamc2	T	C	1: 153,007,636 (GRCm39)	Y846C	probably damaging	Het
Lrp5	A	G	19: 3,672,512 (GRCm39)	V599A	probably benign	Het
Lrrc8b	T	A	5: 105,628,163 (GRCm39)	S170T	possibly damaging	Het
Mex3d	T	C	10: 80,218,428 (GRCm39)	K263R	probably damaging	Het
Mtor	A	G	4: 148,553,463 (GRCm39)	K784E	possibly damaging	Het
Naip5	C	A	13: 100,367,170 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,229,060 (GRCm39)	T609A	possibly damaging	Het
Ndufs1	C	T	1: 63,189,218 (GRCm39)	A536T	probably benign	Het
Neto1	A	G	18: 86,516,768 (GRCm39)	I362V	probably benign	Het
Nfatc3	T	C	8: 106,805,689 (GRCm39)	L178P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nsd3	C	T	8: 26,169,985 (GRCm39)	T707M	probably benign	Het
Or51f2	A	C	7: 102,527,004 (GRCm39)	S226R	probably benign	Het
Or5w1b	A	T	2: 87,475,573 (GRCm39)	V298E	probably damaging	Het
Or9g19	T	C	2: 85,600,613 (GRCm39)	V156A	probably benign	Het
Pcnx1	T	A	12: 81,964,504 (GRCm39)	S224T	probably damaging	Het
Peak1	T	C	9: 56,165,058 (GRCm39)	T957A	probably damaging	Het
Pex7	A	T	10: 19,764,483 (GRCm39)	D153E	probably damaging	Het
Plscr1	A	G	9: 92,148,477 (GRCm39)	E139G	probably damaging	Het
Psmb8	T	C	17: 34,420,214 (GRCm39)	Y269H	probably benign	Het
Rmc1	T	C	18: 12,304,640 (GRCm39)	F72L	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sft2d2	T	C	1: 165,012,657 (GRCm39)	T80A	probably damaging	Het
Slc12a5	A	G	2: 164,829,141 (GRCm39)	I583M	possibly damaging	Het
Slc23a4	T	C	6: 34,933,957 (GRCm39)	M49V	probably benign	Het
Sphkap	A	T	1: 83,256,006 (GRCm39)	V294E	probably benign	Het
Stoml1	C	A	9: 58,160,653 (GRCm39)	P35Q	probably damaging	Het
Timm10b	G	C	7: 105,290,329 (GRCm39)	R42P	probably damaging	Het
Tnfrsf8	A	T	4: 145,019,203 (GRCm39)	S211T	possibly damaging	Het
Ttn	T	C	2: 76,536,164 (GRCm39)	T26738A	probably damaging	Het
Vps13d	A	T	4: 144,801,452 (GRCm39)	Y474N	probably damaging	Het
Wdr81	A	T	11: 75,336,732 (GRCm39)	F1552L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wnt7a	A	C	6: 91,371,637 (GRCm39)	Y108*	probably null	Het
Zfp512b	C	T	2: 181,227,461 (GRCm39)	R56K	probably benign	Het

Other mutations in Smarcb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Smarcb1	APN	10	75,752,602 (GRCm39)	splice site	probably null
IGL02399:Smarcb1	APN	10	75,733,328 (GRCm39)	missense	probably damaging	1.00
IGL02457:Smarcb1	APN	10	75,757,205 (GRCm39)	missense	probably benign	0.01
R0505:Smarcb1	UTSW	10	75,732,900 (GRCm39)	missense	probably damaging	1.00
R1120:Smarcb1	UTSW	10	75,757,157 (GRCm39)	missense	probably benign
R2846:Smarcb1	UTSW	10	75,733,375 (GRCm39)	missense	probably damaging	1.00
R3725:Smarcb1	UTSW	10	75,752,620 (GRCm39)	missense	probably benign	0.00
R5089:Smarcb1	UTSW	10	75,751,013 (GRCm39)	missense	probably benign	0.00
R5157:Smarcb1	UTSW	10	75,747,628 (GRCm39)	intron	probably benign
R5662:Smarcb1	UTSW	10	75,740,404 (GRCm39)	missense	possibly damaging	0.95
R7472:Smarcb1	UTSW	10	75,733,373 (GRCm39)	missense	probably damaging	1.00
R8112:Smarcb1	UTSW	10	75,745,986 (GRCm39)	critical splice donor site	probably null
R9151:Smarcb1	UTSW	10	75,750,916 (GRCm39)	missense	probably benign	0.01
Z1176:Smarcb1	UTSW	10	75,741,911 (GRCm39)	missense	probably benign	0.00
Z1177:Smarcb1	UTSW	10	75,740,345 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAACTGCCATGGCTTTGC -3'
(R):5'- TGAGAATGGCTTGTCCCCAC -3'

Sequencing Primer
(F):5'- CTGCCATGGCTTTGCAGAAAG -3'
(R):5'- AGCTCTCCTGGGGGACTAATG -3'

Posted On

2016-11-08