Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03184:Brms1l'

412374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brms1l

Ensembl Gene

ENSMUSG00000012076

Gene Name

breast cancer metastasis-suppressor 1-like

Synonyms

D12Ertd407e, BRMS1, 0710008O11Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.901) question?

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

55836324-55869736 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 55868277 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 324 (*324Q)

Ref Sequence

ENSEMBL: ENSMUSP00000082500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059250] [ENSMUST00000219419]

Predicted Effect

probably null
Transcript: ENSMUST00000059250
AA Change: *324Q

SMART Domains

Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: *324Q

Domain	Start	End	E-Value	Type
low complexity region	24	55	N/A	INTRINSIC
Pfam:Sds3	61	217	1.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219575

Coding Region Coverage

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 shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,323,451	Y992H	possibly damaging	Het
Adcy7	T	A	8: 88,308,643	D58E	probably benign	Het
Aff2	G	A	X: 69,767,234	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,647,777	L1961M	probably damaging	Het
BC024978	A	G	7: 27,197,007		probably benign	Het
Bub1b	T	C	2: 118,609,777		probably benign	Het
Cacna1b	A	G	2: 24,658,489		probably null	Het
Clrn1	T	A	3: 58,846,224	T239S	probably benign	Het
Clta	T	C	4: 44,025,514	Y145H	probably benign	Het
Coro6	T	C	11: 77,463,953	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,459,019	D314G	probably damaging	Het
Fn1	T	C	1: 71,609,497	N1418D	probably benign	Het
Fshr	A	C	17: 89,046,640	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,105,412	Q152R	probably damaging	Het
Gcnt2	A	G	13: 40,888,184	N273S	probably benign	Het
Gm11437	A	T	11: 84,156,264		probably benign	Het
Gm4559	A	G	7: 142,274,309	S19P	unknown	Het
Igsf8	T	G	1: 172,318,632	I462R	probably damaging	Het
Kirrel3	T	C	9: 35,007,756	F243S	probably damaging	Het
Krt80	C	T	15: 101,352,254	V37M	probably damaging	Het
Lama4	T	C	10: 39,078,843	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,292,529		probably benign	Het
Mtcl1	T	C	17: 66,354,214	N923S	probably benign	Het
Nectin2	G	A	7: 19,738,306	P53S	possibly damaging	Het
Nup98	G	A	7: 102,183,545	T335I	probably damaging	Het
Olfr1247	T	C	2: 89,609,568	D178G	probably damaging	Het
Olfr1391	C	A	11: 49,327,741	T110K	probably damaging	Het
Olfr1507	A	G	14: 52,490,923	S14P	probably benign	Het
Olfr643	T	A	7: 104,058,847	I252F	probably damaging	Het
Olfr822	T	C	10: 130,074,758	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,449,032	E397G	probably benign	Het
Pcgf5	T	G	19: 36,434,676		probably benign	Het
Pclo	C	T	5: 14,714,443	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,454,511	F226L	probably benign	Het
Pik3ca	T	A	3: 32,439,886	S332R	probably benign	Het
Plek	A	T	11: 16,981,887	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241	F333L	probably damaging	Het
Polk	T	C	13: 96,483,983	T570A	probably benign	Het
Rpgrip1l	G	A	8: 91,300,809	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,524,877	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,547,640	S197R	probably damaging	Het
Smg1	T	A	7: 118,180,380	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,274,668	D678G	probably benign	Het
Sorcs2	A	G	5: 36,031,212	S851P	probably benign	Het
Srcap	A	G	7: 127,530,502		probably benign	Het
Tbck	T	C	3: 132,736,103	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,118,886	S219P	probably damaging	Het
Trim9	T	C	12: 70,251,221	D570G	probably damaging	Het
Usp25	A	G	16: 77,081,653	Y655C	probably damaging	Het
Utrn	T	A	10: 12,710,166	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,527,872	I100F	probably benign	Het
Vps13a	A	T	19: 16,654,370	S2634T	probably benign	Het
Zfp472	T	A	17: 32,977,416	L155*	probably null	Het
Zfp808	A	G	13: 62,169,567	I43M	possibly damaging	Het

Other mutations in Brms1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Brms1l	APN	12	55845326	missense	probably benign	0.15
IGL00951:Brms1l	APN	12	55866049	missense	possibly damaging	0.54
IGL02199:Brms1l	APN	12	55861172	critical splice donor site	probably benign
IGL02669:Brms1l	APN	12	55841616	missense	probably damaging	1.00
IGL03158:Brms1l	APN	12	55836535	missense	possibly damaging	0.83
R0445:Brms1l	UTSW	12	55861406	nonsense	probably null
R0568:Brms1l	UTSW	12	55861388	critical splice acceptor site	probably null
R0942:Brms1l	UTSW	12	55865957	missense	probably benign	0.00
R0968:Brms1l	UTSW	12	55866013	missense	possibly damaging	0.73
R1240:Brms1l	UTSW	12	55844508	missense	probably damaging	1.00
R1580:Brms1l	UTSW	12	55868222	missense	probably damaging	1.00
R1694:Brms1l	UTSW	12	55841600	missense	probably damaging	1.00
R1926:Brms1l	UTSW	12	55863161	missense	possibly damaging	0.69
R4626:Brms1l	UTSW	12	55863173	missense	probably benign	0.01
R4669:Brms1l	UTSW	12	55841571	missense	possibly damaging	0.83
R4987:Brms1l	UTSW	12	55866015	missense	probably benign	0.15
R6010:Brms1l	UTSW	12	55868200	missense	possibly damaging	0.55
R6129:Brms1l	UTSW	12	55868185	missense	probably benign	0.03
R7429:Brms1l	UTSW	12	55845299	missense	probably damaging	1.00
R7430:Brms1l	UTSW	12	55845299	missense	probably damaging	1.00
R7510:Brms1l	UTSW	12	55845322	nonsense	probably null
R7543:Brms1l	UTSW	12	55868212	missense	probably damaging	1.00
R7855:Brms1l	UTSW	12	55866053	missense	possibly damaging	0.90
R7938:Brms1l	UTSW	12	55866053	missense	possibly damaging	0.90

Posted On

2016-08-02