Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Brms1l'

607202

Institutional Source

Beutler Lab

Gene Symbol

Brms1l

Ensembl Gene

ENSMUSG00000012076

Gene Name

breast cancer metastasis-suppressor 1-like

Synonyms

D12Ertd407e, BRMS1, 0710008O11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55836324-55869736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55866053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 277 (D277V)

Ref Sequence

ENSEMBL: ENSMUSP00000082500 (fasta)

Gene Model

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

AlphaFold

Q3U1T3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059250
AA Change: D277V

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: D277V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	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
IGL03184:Brms1l	APN	12	55868277	makesense	probably null
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
R8200:Brms1l	UTSW	12	55844398	missense	probably damaging	1.00
R8376:Brms1l	UTSW	12	55841629	missense	probably benign	0.03
R8532:Brms1l	UTSW	12	55844479	missense	probably damaging	1.00
R9131:Brms1l	UTSW	12	55860128	missense	possibly damaging	0.93
R9335:Brms1l	UTSW	12	55841646	missense	possibly damaging	0.96
R9433:Brms1l	UTSW	12	55866078	critical splice donor site	probably null
R9577:Brms1l	UTSW	12	55860091	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATCACCCATGTGCTTGC -3'
(R):5'- GTGCACCCATGATTGGATCTTAC -3'

Sequencing Primer
(F):5'- GCATATATGTGCATGCATTACTGTTG -3'
(R):5'- GCACCCATGATTGGATCTTACTCAAG -3'

Posted On

2019-12-20