Incidental Mutation 'IGL02669:Brms1l'
ID302874
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: 0.918) question?
Stock #IGL02669
Quality Score
Status
Chromosome12
Chromosomal Location55836324-55869736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 55841616 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 63 (D63V)
Ref Sequence ENSEMBL: ENSMUSP00000151316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059250] [ENSMUST00000219419]
Predicted Effect probably damaging
Transcript: ENSMUST00000059250
AA Change: D63V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: D63V

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 probably damaging
Transcript: ENSMUST00000219419
AA Change: D63V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219575
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A G 6: 48,931,473 Y469C probably damaging Het
A930003A15Rik T A 16: 19,883,755 noncoding transcript Het
Acap1 G A 11: 69,894,595 probably benign Het
Adam7 T C 14: 68,507,894 Y627C probably damaging Het
Agrn C T 4: 156,174,561 probably benign Het
Bace2 T C 16: 97,436,893 *515R probably null Het
Baiap3 C T 17: 25,244,348 V958M probably damaging Het
Cnksr1 A T 4: 134,230,463 I435N probably damaging Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Cpne6 A G 14: 55,513,826 N201S probably benign Het
Dnajc12 A G 10: 63,397,292 S71G probably damaging Het
Dpp3 A T 19: 4,923,682 probably null Het
E2f3 A G 13: 29,916,991 S239P probably benign Het
Eif3e T A 15: 43,282,692 M1L probably benign Het
Erap1 A G 13: 74,675,868 T867A probably benign Het
Erlin1 G T 19: 44,039,219 A260E probably damaging Het
Esrp1 A G 4: 11,386,324 V38A possibly damaging Het
Foxn1 T C 11: 78,371,160 R128G probably damaging Het
Gnb3 A G 6: 124,837,725 L70P probably benign Het
Gon4l T C 3: 88,895,499 V1139A probably damaging Het
Gpt2 G T 8: 85,523,279 M463I probably benign Het
Gtpbp3 C A 8: 71,490,902 A201D probably damaging Het
Jaml A C 9: 45,104,191 K331T possibly damaging Het
Kntc1 G A 5: 123,755,664 probably benign Het
Ksr2 A G 5: 117,555,381 K298R probably damaging Het
Mfge8 T C 7: 79,145,681 D46G probably benign Het
Ncam2 T A 16: 81,517,541 N468K probably benign Het
Nup88 A G 11: 70,956,284 M300T probably damaging Het
Olfr1223 T A 2: 89,144,220 K268* probably null Het
Olfr1298 A T 2: 111,645,891 Y35* probably null Het
Olfr547 A G 7: 102,535,661 M305V probably benign Het
Prdm1 A T 10: 44,439,884 M752K probably benign Het
Prl3b1 A T 13: 27,245,812 M78L probably benign Het
Ralgps2 T C 1: 156,832,698 E268G probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Slc4a5 A G 6: 83,263,543 D279G possibly damaging Het
Tanc1 T A 2: 59,799,986 I770K probably damaging Het
Tbl2 G A 5: 135,152,998 R64H probably damaging Het
Tg T A 15: 66,748,726 probably benign Het
Tmprss13 A T 9: 45,332,526 I187F probably benign Het
Tubb3 T C 8: 123,421,117 L263P probably damaging Het
Vmn2r109 T G 17: 20,554,256 D279A possibly damaging Het
Vps33b A G 7: 80,276,038 probably benign Het
Yeats2 A G 16: 20,186,283 S338G probably benign Het
Zfp142 T C 1: 74,571,273 Q1121R probably benign Het
Zic1 G T 9: 91,364,433 H195Q possibly damaging 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
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
R7855:Brms1l UTSW 12 55866053 missense possibly damaging 0.90
R7938:Brms1l UTSW 12 55866053 missense possibly damaging 0.90
Posted On2015-04-16