Mutagenetix > Incidental Mutation

Incidental Mutation 'R8112:Smarcb1'

630938

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

067541-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75732603-75757448 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 75745986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000121304] [ENSMUST00000140388] [ENSMUST00000146555]

AlphaFold

Q9Z0H3

Predicted Effect

probably null
Transcript: ENSMUST00000000925

SMART Domains

Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902

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

SMART Domains

Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140388

Predicted Effect

probably benign
Transcript: ENSMUST00000146555

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 95.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,264,624 (GRCm39)	V3002A	probably benign	Het
Aifm3	T	C	16: 17,320,804 (GRCm39)	V422A	probably damaging	Het
Alx3	G	T	3: 107,512,300 (GRCm39)	E313*	probably null	Het
Arfgef3	A	G	10: 18,528,379 (GRCm39)	V336A	possibly damaging	Het
Art5	A	T	7: 101,747,218 (GRCm39)	V187E	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
B3galt1	A	G	2: 67,948,702 (GRCm39)	D139G	probably damaging	Het
Cbx5	A	G	15: 103,108,171 (GRCm39)	V158A	probably benign	Het
Cdca7l	T	C	12: 117,840,779 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,175 (GRCm39)	S1301P	probably benign	Het
Chmp3	T	A	6: 71,538,012 (GRCm39)	S80T	probably benign	Het
Cyp2g1	T	A	7: 26,518,886 (GRCm39)	D427E	probably benign	Het
Depdc5	G	A	5: 33,126,050 (GRCm39)	V1199I	possibly damaging	Het
Efcab3	T	C	11: 104,841,026 (GRCm39)	V3643A	unknown	Het
Ehmt1	G	T	2: 24,753,396 (GRCm39)	L335M	probably damaging	Het
Elfn2	A	G	15: 78,557,635 (GRCm39)	V304A	probably damaging	Het
Emc1	C	T	4: 139,094,498 (GRCm39)	R684W	probably benign	Het
Eme2	A	T	17: 25,113,809 (GRCm39)	V72E	probably damaging	Het
Gen1	T	A	12: 11,304,374 (GRCm39)	K230*	probably null	Het
Gfap	T	A	11: 102,787,928 (GRCm39)	I6F	probably benign	Het
Grid2	T	C	6: 63,885,891 (GRCm39)	S96P	probably damaging	Het
H2-M2	A	G	17: 37,794,383 (GRCm39)	L13P	unknown	Het
Hps4	T	G	5: 112,517,977 (GRCm39)	C323W	probably benign	Het
Ing3	A	G	6: 21,952,181 (GRCm39)	K52E	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Krt4	T	A	15: 101,828,724 (GRCm39)	N380I	probably damaging	Het
Lrp1	A	T	10: 127,441,715 (GRCm39)	C174S	probably damaging	Het
Lrrc8e	T	C	8: 4,285,575 (GRCm39)	I600T	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Mindy1	T	C	3: 95,202,122 (GRCm39)	L333P	probably damaging	Het
Mrgprb1	A	G	7: 48,097,682 (GRCm39)	S77P	probably damaging	Het
Mtus2	G	T	5: 148,013,713 (GRCm39)	E169*	probably null	Het
Muc5b	A	G	7: 141,415,765 (GRCm39)	T2904A	possibly damaging	Het
Noxa1	C	T	2: 24,982,553 (GRCm39)		probably null	Het
Ogfod3	G	A	11: 121,095,376 (GRCm39)	R5W	probably damaging	Het
Or4f59	T	A	2: 111,872,982 (GRCm39)	I132F	probably damaging	Het
Or7g35	T	A	9: 19,496,020 (GRCm39)	F62L	probably benign	Het
Or9i16	A	G	19: 13,864,753 (GRCm39)	S274P	probably damaging	Het
Pgm3	C	A	9: 86,446,828 (GRCm39)	R230L	probably benign	Het
Plpbp	A	G	8: 27,536,069 (GRCm39)	I121V	unknown	Het
Prl8a9	T	C	13: 27,743,355 (GRCm39)	D150G	probably benign	Het
Psapl1	A	G	5: 36,362,919 (GRCm39)	N504D	probably benign	Het
Ptchd4	A	C	17: 42,814,066 (GRCm39)	N656H	probably benign	Het
Ptprs	A	T	17: 56,741,532 (GRCm39)	Y577*	probably null	Het
Rasgef1c	A	G	11: 49,858,228 (GRCm39)	Y263C	probably damaging	Het
Rinl	A	G	7: 28,490,014 (GRCm39)		probably null	Het
Scd4	T	C	19: 44,325,945 (GRCm39)	F100L	probably benign	Het
Scgb2b20	T	G	7: 33,063,969 (GRCm39)	R100S	probably benign	Het
Scn8a	C	T	15: 100,927,718 (GRCm39)	A1399V	probably benign	Het
Slc22a7	A	G	17: 46,747,756 (GRCm39)	V267A	probably benign	Het
Slc7a11	T	C	3: 50,372,440 (GRCm39)	E263G	possibly damaging	Het
Slmap	A	G	14: 26,143,703 (GRCm39)	L728P	probably damaging	Het
Sspn	T	C	6: 145,901,361 (GRCm39)	V80A	possibly damaging	Het
Tasor2	A	T	13: 3,619,516 (GRCm39)	D2238E	probably damaging	Het
Terb1	T	C	8: 105,195,399 (GRCm39)	T581A	probably benign	Het
Themis	A	G	10: 28,673,502 (GRCm39)	*596W	probably null	Het
Thoc2l	T	C	5: 104,669,501 (GRCm39)	F1341S	probably benign	Het
Trac	T	C	14: 54,460,557 (GRCm39)		probably benign	Het
Trim37	T	C	11: 87,109,093 (GRCm39)	F940S	possibly damaging	Het
Trpa1	T	C	1: 14,974,490 (GRCm39)	T231A	probably benign	Het
Ttn	T	C	2: 76,580,529 (GRCm39)	I23455V	probably benign	Het
Wap	G	T	11: 6,586,724 (GRCm39)	T125K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Zfp85	T	C	13: 67,896,893 (GRCm39)	D393G	possibly damaging	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
R5632:Smarcb1	UTSW	10	75,740,252 (GRCm39)	nonsense	probably null
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
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'- TTCTGCTTTCTGCCAGGAGC -3'
(R):5'- TGGAGCCCTGACTGACATTG -3'

Sequencing Primer
(F):5'- TTCAGCAGCTGAACCTTGAG -3'
(R):5'- GACTGACATTGCTGCCCTTACG -3'

Posted On

2020-06-30