Incidental Mutation 'IGL03184:Brms1l'
ID 412374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brms1l
Ensembl Gene ENSMUSG00000012076
Gene Name breast cancer metastasis-suppressor 1-like
Synonyms 0710008O11Rik, D12Ertd407e, BRMS1
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # IGL03184
Quality Score
Status
Chromosome 12
Chromosomal Location 55883109-55916521 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 55915062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 324 (*324Q)
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: *324Q
SMART Domains Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: *324Q

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,570 (GRCm39) Y992H possibly damaging Het
Actmap A G 7: 26,896,432 (GRCm39) probably benign Het
Adcy7 T A 8: 89,035,271 (GRCm39) D58E probably benign Het
Aff2 G A X: 68,810,840 (GRCm39) V404M possibly damaging Het
Ankhd1 T A 18: 36,780,830 (GRCm39) L1961M probably damaging Het
Bub1b T C 2: 118,440,258 (GRCm39) probably benign Het
Cacna1b A G 2: 24,548,501 (GRCm39) probably null Het
Clrn1 T A 3: 58,753,645 (GRCm39) T239S probably benign Het
Clta T C 4: 44,025,514 (GRCm39) Y145H probably benign Het
Coro6 T C 11: 77,354,779 (GRCm39) V14A probably damaging Het
Cyp4a30b A G 4: 115,316,216 (GRCm39) D314G probably damaging Het
Fn1 T C 1: 71,648,656 (GRCm39) N1418D probably benign Het
Fshr A C 17: 89,354,068 (GRCm39) L97V possibly damaging Het
Gcm2 T C 13: 41,258,888 (GRCm39) Q152R probably damaging Het
Gcnt2 A G 13: 41,041,660 (GRCm39) N273S probably benign Het
Gm11437 A T 11: 84,047,090 (GRCm39) probably benign Het
Gm4559 A G 7: 141,828,046 (GRCm39) S19P unknown Het
Igsf8 T G 1: 172,146,199 (GRCm39) I462R probably damaging Het
Kirrel3 T C 9: 34,919,052 (GRCm39) F243S probably damaging Het
Krt80 C T 15: 101,250,135 (GRCm39) V37M probably damaging Het
Lama4 T C 10: 38,954,839 (GRCm39) Y1131H probably damaging Het
Mrpl21 T C 19: 3,342,529 (GRCm39) probably benign Het
Mtcl1 T C 17: 66,661,209 (GRCm39) N923S probably benign Het
Nectin2 G A 7: 19,472,231 (GRCm39) P53S possibly damaging Het
Nup98 G A 7: 101,832,752 (GRCm39) T335I probably damaging Het
Or2y1e C A 11: 49,218,568 (GRCm39) T110K probably damaging Het
Or4a74 T C 2: 89,439,912 (GRCm39) D178G probably damaging Het
Or4e5 A G 14: 52,728,380 (GRCm39) S14P probably benign Het
Or51a42 T A 7: 103,708,054 (GRCm39) I252F probably damaging Het
Or6c69c T C 10: 129,910,627 (GRCm39) M116T possibly damaging Het
Pcdhb14 A G 18: 37,582,085 (GRCm39) E397G probably benign Het
Pcgf5 T G 19: 36,412,076 (GRCm39) probably benign Het
Pclo C T 5: 14,764,457 (GRCm39) P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,431,911 (GRCm39) F226L probably benign Het
Pik3ca T A 3: 32,494,035 (GRCm39) S332R probably benign Het
Plek A T 11: 16,931,887 (GRCm39) D321E probably benign Het
Pm20d2 A G 4: 33,179,241 (GRCm39) F333L probably damaging Het
Polk T C 13: 96,620,491 (GRCm39) T570A probably benign Het
Rpgrip1l G A 8: 92,027,437 (GRCm39) L201F probably damaging Het
Serpinb2 T A 1: 107,452,607 (GRCm39) L395H probably damaging Het
Slc9c1 T G 16: 45,368,003 (GRCm39) S197R probably damaging Het
Smg1 T A 7: 117,779,603 (GRCm39) E1264V possibly damaging Het
Sned1 A G 1: 93,202,390 (GRCm39) D678G probably benign Het
Sorcs2 A G 5: 36,188,556 (GRCm39) S851P probably benign Het
Srcap A G 7: 127,129,674 (GRCm39) probably benign Het
Tbck T C 3: 132,441,864 (GRCm39) Y557H probably damaging Het
Tfap2d T C 1: 19,189,110 (GRCm39) S219P probably damaging Het
Trim9 T C 12: 70,297,995 (GRCm39) D570G probably damaging Het
Usp25 A G 16: 76,878,541 (GRCm39) Y655C probably damaging Het
Utrn T A 10: 12,585,910 (GRCm39) T956S probably benign Het
Vmn1r68 T A 7: 10,261,799 (GRCm39) I100F probably benign Het
Vps13a A T 19: 16,631,734 (GRCm39) S2634T probably benign Het
Zfp472 T A 17: 33,196,390 (GRCm39) L155* probably null Het
Zfp808 A G 13: 62,317,381 (GRCm39) I43M 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
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
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
Posted On 2016-08-02