Incidental Mutation 'R1580:Brms1l'
ID 171365
Institutional Source Beutler Lab
Gene Symbol Brms1l
Ensembl Gene ENSMUSG00000012076
Gene Name breast cancer metastasis-suppressor 1-like
Synonyms 0710008O11Rik, D12Ertd407e, BRMS1
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55883109-55916521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55915007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 305 (K305N)
Ref Sequence ENSEMBL: ENSMUSP00000082500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059250] [ENSMUST00000219419]
AlphaFold Q3U1T3
Predicted Effect probably damaging
Transcript: ENSMUST00000059250
AA Change: K305N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: K305N

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 0.3705 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G 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
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
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'- ACTGGTAAGTAAACGTGCTGAGCC -3'
(R):5'- TGCACGGTAGTCCATTAGAGGTGAG -3'

Sequencing Primer
(F):5'- TAAACGTGCTGAGCCTACTG -3'
(R):5'- GGTCTACTTGGAGTACTACCTAGAAG -3'
Posted On 2014-04-13