Incidental Mutation 'R0942:Brms1l'
ID 82764
Institutional Source Beutler Lab
Gene Symbol Brms1l
Ensembl Gene ENSMUSG00000012076
Gene Name breast cancer metastasis-suppressor 1-like
Synonyms 0710008O11Rik, D12Ertd407e, BRMS1
MMRRC Submission 039081-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R0942 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55883109-55916521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55912742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 245 (V245A)
Ref Sequence ENSEMBL: ENSMUSP00000082500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059250] [ENSMUST00000219419]
AlphaFold Q3U1T3
Predicted Effect probably benign
Transcript: ENSMUST00000059250
AA Change: V245A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: V245A

DomainStartEndE-ValueType
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 0.0574 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G possibly damaging Het
Other mutations in Brms1l
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0445:Brms1l UTSW 12 55,908,191 (GRCm39) nonsense probably null
R0568:Brms1l UTSW 12 55,908,173 (GRCm39) critical splice acceptor site probably null
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'- TCAATCAGTCACCTATGCGCTTGCC -3'
(R):5'- AATGCTCAGCAGCAATGCAGTGCC -3'

Sequencing Primer
(F):5'- ATCATCACCCATGTGCTTGC -3'
(R):5'- CAGGAAGCCTCTTACCTTGTGG -3'
Posted On 2013-11-08