Incidental Mutation 'IGL03158:Brms1l'
ID411331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brms1l
Ensembl Gene ENSMUSG00000012076
Gene Namebreast cancer metastasis-suppressor 1-like
SynonymsD12Ertd407e, BRMS1, 0710008O11Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.914) question?
Stock #IGL03158
Quality Score
Status
Chromosome12
Chromosomal Location55836324-55869736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55836535 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 11 (E11G)
Ref Sequence ENSEMBL: ENSMUSP00000151316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059250] [ENSMUST00000219419]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059250
AA Change: E11G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: E11G

DomainStartEndE-ValueType
low complexity region 24 55 N/A INTRINSIC
Pfam:Sds3 61 217 1.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219337
Predicted Effect possibly damaging
Transcript: ENSMUST00000219419
AA Change: E11G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220400
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 T C 5: 122,817,897 T157A probably benign Het
C2cd3 A G 7: 100,374,476 T90A probably damaging Het
Eml5 A T 12: 98,827,514 probably benign Het
Fgl1 A T 8: 41,209,773 H58Q probably benign Het
Ipo5 T C 14: 120,941,891 probably benign Het
Lyst T C 13: 13,651,752 probably null Het
Map1s T C 8: 70,914,734 L761P probably damaging Het
Mup21 T C 4: 62,150,288 E47G probably benign Het
Mup6 T A 4: 60,005,480 F104I possibly damaging Het
Olfr1135 G A 2: 87,671,791 T192I probably benign Het
Olfr803 T A 10: 129,691,718 T108S probably benign Het
Pdcd11 A T 19: 47,128,061 D1550V possibly damaging Het
Prex2 C A 1: 11,266,067 S1496R possibly damaging Het
Prpf4 A G 4: 62,416,019 H237R probably benign Het
Pygl G T 12: 70,195,675 T578K probably damaging Het
Rem2 A G 14: 54,478,958 D176G probably benign Het
Unc80 T C 1: 66,641,674 V2143A probably benign Het
Wdr4 T C 17: 31,499,128 Q324R probably benign Het
Other mutations in Brms1l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7855:Brms1l UTSW 12 55866053 missense possibly damaging 0.90
R7938:Brms1l UTSW 12 55866053 missense possibly damaging 0.90
Posted On2016-08-02