Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Brms1l'

39332

Institutional Source

Beutler Lab

Gene Symbol

Brms1l

Ensembl Gene

ENSMUSG00000012076

Gene Name

breast cancer metastasis-suppressor 1-like

Synonyms

0710008O11Rik, D12Ertd407e, BRMS1

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R0445 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

55883109-55916521 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55908191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 213 (Y213*)

Ref Sequence

ENSEMBL: ENSMUSP00000082500 (fasta)

Gene Model

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

AlphaFold

Q3U1T3

Predicted Effect

probably null
Transcript: ENSMUST00000059250
AA Change: Y213*

SMART Domains

Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: Y213*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	probably damaging	Het

Other mutations in Brms1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Brms1l	APN	12	55,892,111 (GRCm39)	missense	probably benign	0.15
IGL00951:Brms1l	APN	12	55,912,834 (GRCm39)	missense	possibly damaging	0.54
IGL02199:Brms1l	APN	12	55,907,957 (GRCm39)	critical splice donor site	probably benign
IGL02669:Brms1l	APN	12	55,888,401 (GRCm39)	missense	probably damaging	1.00
IGL03158:Brms1l	APN	12	55,883,320 (GRCm39)	missense	possibly damaging	0.83
IGL03184:Brms1l	APN	12	55,915,062 (GRCm39)	makesense	probably null
R0568:Brms1l	UTSW	12	55,908,173 (GRCm39)	critical splice acceptor site	probably null
R0942:Brms1l	UTSW	12	55,912,742 (GRCm39)	missense	probably benign	0.00
R0968:Brms1l	UTSW	12	55,912,798 (GRCm39)	missense	possibly damaging	0.73
R1240:Brms1l	UTSW	12	55,891,293 (GRCm39)	missense	probably damaging	1.00
R1580:Brms1l	UTSW	12	55,915,007 (GRCm39)	missense	probably damaging	1.00
R1694:Brms1l	UTSW	12	55,888,385 (GRCm39)	missense	probably damaging	1.00
R1926:Brms1l	UTSW	12	55,909,946 (GRCm39)	missense	possibly damaging	0.69
R4626:Brms1l	UTSW	12	55,909,958 (GRCm39)	missense	probably benign	0.01
R4669:Brms1l	UTSW	12	55,888,356 (GRCm39)	missense	possibly damaging	0.83
R4987:Brms1l	UTSW	12	55,912,800 (GRCm39)	missense	probably benign	0.15
R6010:Brms1l	UTSW	12	55,914,985 (GRCm39)	missense	possibly damaging	0.55
R6129:Brms1l	UTSW	12	55,914,970 (GRCm39)	missense	probably benign	0.03
R7429:Brms1l	UTSW	12	55,892,084 (GRCm39)	missense	probably damaging	1.00
R7430:Brms1l	UTSW	12	55,892,084 (GRCm39)	missense	probably damaging	1.00
R7510:Brms1l	UTSW	12	55,892,107 (GRCm39)	nonsense	probably null
R7543:Brms1l	UTSW	12	55,914,997 (GRCm39)	missense	probably damaging	1.00
R7855:Brms1l	UTSW	12	55,912,838 (GRCm39)	missense	possibly damaging	0.90
R8200:Brms1l	UTSW	12	55,891,183 (GRCm39)	missense	probably damaging	1.00
R8376:Brms1l	UTSW	12	55,888,414 (GRCm39)	missense	probably benign	0.03
R8532:Brms1l	UTSW	12	55,891,264 (GRCm39)	missense	probably damaging	1.00
R9131:Brms1l	UTSW	12	55,906,913 (GRCm39)	missense	possibly damaging	0.93
R9335:Brms1l	UTSW	12	55,888,431 (GRCm39)	missense	possibly damaging	0.96
R9433:Brms1l	UTSW	12	55,912,863 (GRCm39)	critical splice donor site	probably null
R9577:Brms1l	UTSW	12	55,906,876 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCACTCTGGGTTTCCACACTG -3'
(R):5'- GCCCATGTTAAGCAAAGCATATTTCCAA -3'

Sequencing Primer
(F):5'- ACTGTGGAAACCATTTCGGC -3'
(R):5'- agtgggagtgggtgtgtag -3'

Posted On

2013-05-23