Incidental Mutation 'R0028:Bms1'
ID18666
Institutional Source Beutler Lab
Gene Symbol Bms1
Ensembl Gene ENSMUSG00000030138
Gene NameBMS1, ribosome biogenesis factor
SynonymsBms1l
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0028 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location118383381-118419474 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118416519 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 131 (I131V)
Ref Sequence ENSEMBL: ENSMUSP00000032237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032237]
Predicted Effect probably benign
Transcript: ENSMUST00000032237
AA Change: I131V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: I131V

DomainStartEndE-ValueType
SCOP:d1f5na2 78 187 2e-5 SMART
low complexity region 190 205 N/A INTRINSIC
AARP2CN 231 317 2.15e-42 SMART
low complexity region 436 460 N/A INTRINSIC
low complexity region 462 481 N/A INTRINSIC
low complexity region 498 514 N/A INTRINSIC
low complexity region 518 537 N/A INTRINSIC
low complexity region 590 613 N/A INTRINSIC
low complexity region 642 661 N/A INTRINSIC
Blast:AAA 663 740 9e-20 BLAST
DUF663 816 1108 6.7e-173 SMART
coiled coil region 1223 1257 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205207
Meta Mutation Damage Score 0.0795 question?
Coding Region Coverage
  • 1x: 80.7%
  • 3x: 72.7%
  • 10x: 50.3%
  • 20x: 30.1%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,377,724 F384L probably benign Het
AC159748.1 T C 10: 5,542,006 silent Het
Adamts12 C T 15: 11,215,624 R244C probably damaging Het
Ccdc107 A G 4: 43,495,549 T151A probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Col4a4 A G 1: 82,487,510 probably null Het
Creb1 A G 1: 64,570,148 D126G probably damaging Het
Ddb1 T A 19: 10,619,246 V443E probably damaging Het
Dnmt3a T A 12: 3,900,337 S634T probably damaging Het
Fras1 A C 5: 96,677,316 N1455T probably benign Het
Fyb A G 15: 6,644,914 probably benign Het
Gpr141 C T 13: 19,752,429 V59M probably damaging Het
Ikbke T C 1: 131,272,184 I222V possibly damaging Het
Macf1 A T 4: 123,382,102 H6222Q probably damaging Het
Mapk8ip3 C T 17: 24,904,897 probably benign Het
Phactr1 A T 13: 43,057,179 D74V probably damaging Het
Prickle2 T C 6: 92,422,342 I185V probably benign Het
Rnasel A T 1: 153,754,719 D327V probably benign Het
Slc25a13 T C 6: 6,181,047 N46D probably benign Het
Slc28a2 T A 2: 122,451,602 F261L probably damaging Het
Slc6a15 A T 10: 103,416,680 Y568F probably benign Het
Slc7a1 A G 5: 148,335,511 V452A probably benign Het
Tectb T C 19: 55,194,677 I330T probably benign Het
Tmem92 C T 11: 94,778,952 V118I possibly damaging Het
Tmf1 T C 6: 97,158,098 E985G probably damaging Het
Traf5 T A 1: 192,074,121 probably benign Het
Trip11 T C 12: 101,884,757 E731G probably damaging Het
Unc5a A G 13: 55,003,913 S50G possibly damaging Het
Wrnip1 T C 13: 32,820,297 L517P probably damaging Het
Zfp202 T A 9: 40,211,752 H603Q probably damaging Het
Other mutations in Bms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bms1 APN 6 118404583 missense probably benign 0.01
IGL00763:Bms1 APN 6 118418402 splice site probably benign
IGL00839:Bms1 APN 6 118405291 missense probably benign 0.30
IGL02005:Bms1 APN 6 118404585 missense probably damaging 1.00
IGL02271:Bms1 APN 6 118389329 missense probably benign 0.10
IGL02403:Bms1 APN 6 118405224 missense possibly damaging 0.89
IGL02474:Bms1 APN 6 118416519 missense probably benign 0.00
IGL03230:Bms1 APN 6 118418561 missense possibly damaging 0.88
IGL03277:Bms1 APN 6 118405122 missense probably benign
PIT4508001:Bms1 UTSW 6 118383806 missense probably benign 0.03
R0056:Bms1 UTSW 6 118405229 missense probably benign 0.00
R0056:Bms1 UTSW 6 118405229 missense probably benign 0.00
R0276:Bms1 UTSW 6 118408134 missense possibly damaging 0.87
R0295:Bms1 UTSW 6 118389337 missense probably benign 0.04
R0360:Bms1 UTSW 6 118405290 missense probably benign 0.13
R0556:Bms1 UTSW 6 118413179 missense probably damaging 1.00
R1078:Bms1 UTSW 6 118405221 missense probably benign 0.00
R1583:Bms1 UTSW 6 118389389 splice site probably benign
R1815:Bms1 UTSW 6 118383781 missense probably damaging 1.00
R1957:Bms1 UTSW 6 118392978 missense probably damaging 0.98
R2045:Bms1 UTSW 6 118392627 missense probably damaging 1.00
R2511:Bms1 UTSW 6 118391153 splice site probably null
R4293:Bms1 UTSW 6 118405347 splice site probably null
R4296:Bms1 UTSW 6 118404999 missense probably damaging 0.96
R4467:Bms1 UTSW 6 118383847 missense probably damaging 0.99
R4688:Bms1 UTSW 6 118392706 missense probably damaging 1.00
R4718:Bms1 UTSW 6 118403235 missense possibly damaging 0.91
R5015:Bms1 UTSW 6 118404263 nonsense probably null
R5327:Bms1 UTSW 6 118405218 missense possibly damaging 0.53
R5489:Bms1 UTSW 6 118413745 missense possibly damaging 0.64
R5511:Bms1 UTSW 6 118388887 missense possibly damaging 0.85
R5636:Bms1 UTSW 6 118388825 missense probably benign 0.00
R5815:Bms1 UTSW 6 118404279 missense probably damaging 1.00
R6245:Bms1 UTSW 6 118396836 missense probably damaging 0.96
R6299:Bms1 UTSW 6 118418515 missense probably damaging 0.98
R6389:Bms1 UTSW 6 118403235 missense possibly damaging 0.91
R6838:Bms1 UTSW 6 118416494 missense probably benign 0.00
R7129:Bms1 UTSW 6 118403161 nonsense probably null
R7414:Bms1 UTSW 6 118383745 missense possibly damaging 0.93
R7811:Bms1 UTSW 6 118403138 missense probably damaging 0.99
R7883:Bms1 UTSW 6 118388774 missense probably benign 0.04
R7966:Bms1 UTSW 6 118388774 missense probably benign 0.04
R8046:Bms1 UTSW 6 118408144 missense probably benign
R8068:Bms1 UTSW 6 118413750 missense probably damaging 1.00
R8098:Bms1 UTSW 6 118384258 missense probably damaging 0.98
R8176:Bms1 UTSW 6 118418450 missense probably damaging 1.00
X0067:Bms1 UTSW 6 118404834 missense probably benign 0.26
Posted On2013-03-25