Incidental Mutation 'IGL00485:Brms1'
ID5696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brms1
Ensembl Gene ENSMUSG00000080268
Gene Namebreast cancer metastasis-suppressor 1
Synonyms
Accession Numbers

Ncbi RefSeq: NM_134155.1; MGI: 2388804

Is this an essential gene? Probably essential (E-score: 0.840) question?
Stock #IGL00485
Quality Score
Status
Chromosome19
Chromosomal Location5041404-5049917 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to C at 5049042 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000116567] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]
Predicted Effect probably benign
Transcript: ENSMUST00000025818
SMART Domains Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883

DomainStartEndE-ValueType
SH2 66 153 2.16e-5 SMART
low complexity region 241 264 N/A INTRINSIC
low complexity region 286 300 N/A INTRINSIC
low complexity region 307 341 N/A INTRINSIC
low complexity region 405 422 N/A INTRINSIC
low complexity region 432 454 N/A INTRINSIC
VPS9 478 596 2.29e-64 SMART
RA 613 694 1.14e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116567
SMART Domains Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268

DomainStartEndE-ValueType
low complexity region 29 59 N/A INTRINSIC
Pfam:Sds3 60 209 5.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224032
Predicted Effect probably benign
Transcript: ENSMUST00000224178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224254
Predicted Effect probably benign
Transcript: ENSMUST00000224288
Predicted Effect probably benign
Transcript: ENSMUST00000224363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225203
Predicted Effect probably benign
Transcript: ENSMUST00000225427
Predicted Effect probably benign
Transcript: ENSMUST00000225799
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(12) : Targeted(2) Gene trapped(10)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,492,671 probably benign Het
Arhgef37 G A 18: 61,523,871 T41I probably damaging Het
BC030867 C T 11: 102,255,957 S353F possibly damaging Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Col4a2 A G 8: 11,439,012 M1133V probably benign Het
Ctps T C 4: 120,552,944 Y314C probably damaging Het
Defa30 T A 8: 21,135,451 M77K probably benign Het
E330017A01Rik A G 16: 58,635,491 Y140H probably damaging Het
Eif3a T C 19: 60,769,890 R817G unknown Het
Fam189a2 G A 19: 23,984,722 R306W probably damaging Het
Gm13119 G A 4: 144,363,442 V351I probably damaging Het
Greb1l A G 18: 10,555,962 S1725G possibly damaging Het
Hmgxb4 T C 8: 75,029,503 S545P probably damaging Het
Kif13b A G 14: 64,765,073 E1049G possibly damaging Het
Mug1 T C 6: 121,887,416 V1424A probably benign Het
Nlrp2 A G 7: 5,337,548 V89A probably benign Het
Osbpl11 T G 16: 33,241,745 W741G probably damaging Het
Pam A G 1: 97,822,953 V914A possibly damaging Het
Phldb2 T A 16: 45,757,188 I1117F possibly damaging Het
Pign A T 1: 105,597,723 L460* probably null Het
Prdm10 A T 9: 31,327,546 I196F possibly damaging Het
Stk36 T C 1: 74,634,085 S1044P probably benign Het
Trim43b T C 9: 89,091,642 T13A probably benign Het
Unc5b T C 10: 60,783,216 Y49C possibly damaging Het
Urb2 T C 8: 124,028,694 I380T probably damaging Het
Zfyve27 T A 19: 42,183,433 C229S probably benign Het
Other mutations in Brms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Brms1 APN 19 5046695 missense possibly damaging 0.79
IGL02583:Brms1 APN 19 5046178 missense probably damaging 0.99
PIT4576001:Brms1 UTSW 19 5046201 missense probably damaging 1.00
R0054:Brms1 UTSW 19 5046699 nonsense probably null
R0054:Brms1 UTSW 19 5046699 nonsense probably null
R0670:Brms1 UTSW 19 5045971 missense probably damaging 1.00
R1757:Brms1 UTSW 19 5046407 missense probably damaging 1.00
R1962:Brms1 UTSW 19 5045999 missense probably damaging 0.97
R6963:Brms1 UTSW 19 5046653 missense probably damaging 1.00
R7096:Brms1 UTSW 19 5046680 missense probably damaging 1.00
R8241:Brms1 UTSW 19 5045979 missense probably benign 0.00
R8444:Brms1 UTSW 19 5041492 critical splice donor site probably null
Posted On2012-04-20