Incidental Mutation 'R6963:Brms1'
ID 543345
Institutional Source Beutler Lab
Gene Symbol Brms1
Ensembl Gene ENSMUSG00000080268
Gene Name breast cancer metastasis-suppressor 1
Synonyms
MMRRC Submission 045073-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R6963 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5091391-5099940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5096681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 121 (I121N)
Ref Sequence ENSEMBL: ENSMUSP00000112266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000116567] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]
AlphaFold Q99N20
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 damaging
Transcript: ENSMUST00000116567
AA Change: I121N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268
AA Change: I121N

DomainStartEndE-ValueType
low complexity region 29 59 N/A INTRINSIC
Pfam:Sds3 60 209 5.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224178
Predicted Effect probably benign
Transcript: ENSMUST00000224288
Predicted Effect probably benign
Transcript: ENSMUST00000224363
Predicted Effect probably benign
Transcript: ENSMUST00000225427
Predicted Effect probably benign
Transcript: ENSMUST00000225799
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,044,303 (GRCm39) H196Y probably damaging Het
Abi3 G A 11: 95,723,567 (GRCm39) probably benign Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Asgr1 T C 11: 69,946,794 (GRCm39) probably null Het
Atp2c2 C T 8: 120,457,006 (GRCm39) R203* probably null Het
Ccdc149 G A 5: 52,596,439 (GRCm39) R58W probably damaging Het
D630003M21Rik T C 2: 158,042,228 (GRCm39) E906G probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fry A G 5: 150,381,309 (GRCm39) T444A probably benign Het
Ggn A G 7: 28,871,007 (GRCm39) E142G probably damaging Het
Gm5150 A G 3: 16,060,555 (GRCm39) probably benign Het
Gm57858 A G 3: 36,104,811 (GRCm39) Y17H probably benign Het
Gp2 A G 7: 119,052,120 (GRCm39) V198A probably benign Het
Gstm3 A G 3: 107,874,940 (GRCm39) V104A probably benign Het
Idua A G 5: 108,827,641 (GRCm39) K152E possibly damaging Het
Igsf21 A G 4: 139,755,041 (GRCm39) S443P probably benign Het
Kdm5d C A Y: 937,975 (GRCm39) Q925K probably benign Het
Ly6k G C 15: 74,670,431 (GRCm39) P37R probably damaging Het
Mcm9 A G 10: 53,424,713 (GRCm39) S626P probably damaging Het
Mcoln2 A G 3: 145,877,790 (GRCm39) K137R probably damaging Het
Mctp2 T C 7: 71,877,804 (GRCm39) N298S probably damaging Het
Myo10 T C 15: 25,734,149 (GRCm39) I379T probably benign Het
Myo15b G T 11: 115,781,540 (GRCm39) probably null Het
Nrg1 A G 8: 32,407,690 (GRCm39) F181S probably benign Het
Or5b24 C T 19: 12,913,002 (GRCm39) A300V probably damaging Het
Pals2 T C 6: 50,140,635 (GRCm39) probably null Het
Pde9a G T 17: 31,662,861 (GRCm39) V97L probably benign Het
Rfc5 T A 5: 117,525,931 (GRCm39) probably null Het
Rnf145 T C 11: 44,455,104 (GRCm39) S662P probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scfd2 A G 5: 74,642,870 (GRCm39) V359A probably damaging Het
Skp2 T C 15: 9,139,515 (GRCm39) probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tekt2 T C 4: 126,218,110 (GRCm39) E134G probably damaging Het
Ttll4 T A 1: 74,720,975 (GRCm39) I547K probably damaging Het
Vmn1r4 T C 6: 56,933,769 (GRCm39) I91T probably damaging Het
Vmn2r93 T C 17: 18,536,849 (GRCm39) S511P probably damaging Het
Vps50 T C 6: 3,592,577 (GRCm39) probably null Het
Zeb2 T G 2: 44,878,811 (GRCm39) E1141A probably damaging Het
Zfp1002 A G 2: 150,097,265 (GRCm39) C55R probably damaging Het
Zfp326 T A 5: 106,059,359 (GRCm39) Y373* probably null Het
Other mutations in Brms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Brms1 APN 19 5,099,070 (GRCm39) unclassified probably benign
IGL01391:Brms1 APN 19 5,096,723 (GRCm39) missense possibly damaging 0.79
IGL02583:Brms1 APN 19 5,096,206 (GRCm39) missense probably damaging 0.99
PIT4576001:Brms1 UTSW 19 5,096,229 (GRCm39) missense probably damaging 1.00
R0054:Brms1 UTSW 19 5,096,727 (GRCm39) nonsense probably null
R0054:Brms1 UTSW 19 5,096,727 (GRCm39) nonsense probably null
R0670:Brms1 UTSW 19 5,095,999 (GRCm39) missense probably damaging 1.00
R1757:Brms1 UTSW 19 5,096,435 (GRCm39) missense probably damaging 1.00
R1962:Brms1 UTSW 19 5,096,027 (GRCm39) missense probably damaging 0.97
R7096:Brms1 UTSW 19 5,096,708 (GRCm39) missense probably damaging 1.00
R8241:Brms1 UTSW 19 5,096,007 (GRCm39) missense probably benign 0.00
R8444:Brms1 UTSW 19 5,091,520 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGAGAGAGCCCCAGAATATACG -3'
(R):5'- CCCAAGCAGTGTGTCATACAG -3'

Sequencing Primer
(F):5'- ATATACGGAACCTCTTGGCG -3'
(R):5'- GCAGTGTGTCATACAGCAGCATC -3'
Posted On 2018-11-28