Incidental Mutation 'R2045:Bms1'
ID 221810
Institutional Source Beutler Lab
Gene Symbol Bms1
Ensembl Gene ENSMUSG00000030138
Gene Name BMS1, ribosome biogenesis factor
Synonyms Bms1l
MMRRC Submission 040052-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2045 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 118360342-118396435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 118369588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 960 (L960W)
Ref Sequence ENSEMBL: ENSMUSP00000032237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032237]
AlphaFold Q6PGF5
Predicted Effect probably damaging
Transcript: ENSMUST00000032237
AA Change: L960W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: L960W

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: ENSMUST00000205207
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (74/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C T 19: 34,220,799 (GRCm39) G303E probably damaging Het
Adamts1 A T 16: 85,592,864 (GRCm39) Y515N probably damaging Het
Ankef1 T C 2: 136,396,658 (GRCm39) V695A probably benign Het
Ankrd63 C A 2: 118,533,834 (GRCm39) probably benign Het
Asah2 A T 19: 32,030,356 (GRCm39) N105K probably benign Het
Atf2 A C 2: 73,693,552 (GRCm39) D3E probably damaging Het
Atp5pb T C 3: 105,851,190 (GRCm39) probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Cacna1c A G 6: 118,633,098 (GRCm39) V977A probably damaging Het
Cadps2 A G 6: 23,839,121 (GRCm39) S6P possibly damaging Het
Capn8 A G 1: 182,440,951 (GRCm39) T462A probably benign Het
Cd226 T C 18: 89,225,486 (GRCm39) S128P probably benign Het
Cd33 G T 7: 43,179,316 (GRCm39) H278N probably benign Het
Cdh1 T C 8: 107,392,814 (GRCm39) probably benign Het
Cfap54 T C 10: 92,874,671 (GRCm39) probably null Het
Chit1 A G 1: 134,078,882 (GRCm39) I397M probably benign Het
Cic C A 7: 24,970,961 (GRCm39) Q231K possibly damaging Het
Clca4b A G 3: 144,630,924 (GRCm39) V312A probably damaging Het
Cngb1 T A 8: 96,023,713 (GRCm39) probably null Het
Cyfip2 T C 11: 46,140,616 (GRCm39) I430V probably benign Het
Dnah12 A G 14: 26,503,485 (GRCm39) E1613G probably null Het
Dock2 T C 11: 34,244,106 (GRCm39) probably null Het
Dync2h1 A T 9: 7,160,171 (GRCm39) F646I probably damaging Het
Eef1b2 A T 1: 63,218,646 (GRCm39) K144* probably null Het
Erap1 T C 13: 74,817,569 (GRCm39) V137A probably benign Het
Far1 A T 7: 113,138,478 (GRCm39) probably null Het
Fbn2 A T 18: 58,223,730 (GRCm39) C807S probably damaging Het
Fgfr1 A G 8: 26,048,231 (GRCm39) K209R probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Frem2 A T 3: 53,443,165 (GRCm39) V2533D probably damaging Het
Hip1r T C 5: 124,138,794 (GRCm39) M839T probably benign Het
Igfbp2 A G 1: 72,891,310 (GRCm39) S303G probably benign Het
Insyn2a T G 7: 134,520,159 (GRCm39) K124Q probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itgb3 T G 11: 104,514,239 (GRCm39) S27A probably benign Het
Kif21b G A 1: 136,088,051 (GRCm39) D1015N probably damaging Het
Krt7 A T 15: 101,321,365 (GRCm39) probably null Het
Krtdap T A 7: 30,490,010 (GRCm39) F80L probably benign Het
Lcp1 A T 14: 75,437,841 (GRCm39) T84S probably benign Het
Lipi G A 16: 75,347,087 (GRCm39) T444I probably damaging Het
Lrguk A T 6: 34,048,003 (GRCm39) E316V probably damaging Het
Lypd1 G A 1: 125,838,272 (GRCm39) probably benign Het
Med12l A T 3: 59,169,731 (GRCm39) K1632* probably null Het
Mrgpra9 A T 7: 46,885,583 (GRCm39) M28K probably benign Het
Mylk A G 16: 34,774,023 (GRCm39) K1291E probably benign Het
Nek4 T A 14: 30,675,880 (GRCm39) W72R probably damaging Het
Nudt8 T C 19: 4,051,899 (GRCm39) V170A probably damaging Het
Oosp3 T A 19: 11,676,733 (GRCm39) Y31N probably benign Het
Padi2 A T 4: 140,665,241 (GRCm39) R449W probably damaging Het
Pcf11 G T 7: 92,311,087 (GRCm39) N300K probably damaging Het
Pcsk5 T C 19: 17,558,508 (GRCm39) D633G possibly damaging Het
Phlpp2 T A 8: 110,634,232 (GRCm39) W271R probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pkhd1l1 A T 15: 44,343,050 (GRCm39) N176Y probably damaging Het
Pop5 T G 5: 115,376,271 (GRCm39) V33G possibly damaging Het
Prkag2 A G 5: 25,152,580 (GRCm39) F175L possibly damaging Het
Ptpn22 T A 3: 103,781,337 (GRCm39) D79E possibly damaging Het
Rab32 T G 10: 10,426,577 (GRCm39) D123A probably damaging Het
Rnpc3 T C 3: 113,402,009 (GRCm39) K513E possibly damaging Het
Senp1 A T 15: 97,957,825 (GRCm39) F358I possibly damaging Het
Sft2d2 A G 1: 165,012,647 (GRCm39) L83P probably damaging Het
Slc9c1 G A 16: 45,400,613 (GRCm39) R741H probably damaging Het
Smad4 A T 18: 73,782,877 (GRCm39) Y352* probably null Het
Tamm41 T A 6: 114,993,056 (GRCm39) Q232H probably benign Het
Tbx6 T A 7: 126,382,055 (GRCm39) L131Q probably damaging Het
Trappc10 T C 10: 78,045,313 (GRCm39) probably benign Het
Trp53bp1 C A 2: 121,034,964 (GRCm39) A108S probably benign Het
Tut7 T C 13: 59,948,470 (GRCm39) Y215C probably damaging Het
Unc13b G A 4: 43,091,266 (GRCm39) V31M probably damaging Het
Usp24 T C 4: 106,258,177 (GRCm39) M1525T possibly damaging Het
Vax2 G A 6: 83,688,252 (GRCm39) probably benign Het
Vcan T A 13: 89,839,104 (GRCm39) I2147L probably benign Het
Zbtb7a C A 10: 80,980,244 (GRCm39) A146E probably benign Het
Zfp287 A G 11: 62,618,395 (GRCm39) L157P probably damaging Het
Other mutations in Bms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bms1 APN 6 118,381,544 (GRCm39) missense probably benign 0.01
IGL00763:Bms1 APN 6 118,395,363 (GRCm39) splice site probably benign
IGL00839:Bms1 APN 6 118,382,252 (GRCm39) missense probably benign 0.30
IGL02005:Bms1 APN 6 118,381,546 (GRCm39) missense probably damaging 1.00
IGL02271:Bms1 APN 6 118,366,290 (GRCm39) missense probably benign 0.10
IGL02403:Bms1 APN 6 118,382,185 (GRCm39) missense possibly damaging 0.89
IGL02474:Bms1 APN 6 118,393,480 (GRCm39) missense probably benign 0.00
IGL03230:Bms1 APN 6 118,395,522 (GRCm39) missense possibly damaging 0.88
IGL03277:Bms1 APN 6 118,382,083 (GRCm39) missense probably benign
PIT4508001:Bms1 UTSW 6 118,360,767 (GRCm39) missense probably benign 0.03
R0028:Bms1 UTSW 6 118,393,480 (GRCm39) missense probably benign 0.00
R0056:Bms1 UTSW 6 118,382,190 (GRCm39) missense probably benign 0.00
R0056:Bms1 UTSW 6 118,382,190 (GRCm39) missense probably benign 0.00
R0276:Bms1 UTSW 6 118,385,095 (GRCm39) missense possibly damaging 0.87
R0295:Bms1 UTSW 6 118,366,298 (GRCm39) missense probably benign 0.04
R0360:Bms1 UTSW 6 118,382,251 (GRCm39) missense probably benign 0.13
R0556:Bms1 UTSW 6 118,390,140 (GRCm39) missense probably damaging 1.00
R1078:Bms1 UTSW 6 118,382,182 (GRCm39) missense probably benign 0.00
R1583:Bms1 UTSW 6 118,366,350 (GRCm39) splice site probably benign
R1815:Bms1 UTSW 6 118,360,742 (GRCm39) missense probably damaging 1.00
R1957:Bms1 UTSW 6 118,369,939 (GRCm39) missense probably damaging 0.98
R2511:Bms1 UTSW 6 118,368,114 (GRCm39) splice site probably null
R4293:Bms1 UTSW 6 118,382,308 (GRCm39) splice site probably null
R4296:Bms1 UTSW 6 118,381,960 (GRCm39) missense probably damaging 0.96
R4467:Bms1 UTSW 6 118,360,808 (GRCm39) missense probably damaging 0.99
R4688:Bms1 UTSW 6 118,369,667 (GRCm39) missense probably damaging 1.00
R4718:Bms1 UTSW 6 118,380,196 (GRCm39) missense possibly damaging 0.91
R5015:Bms1 UTSW 6 118,381,224 (GRCm39) nonsense probably null
R5327:Bms1 UTSW 6 118,382,179 (GRCm39) missense possibly damaging 0.53
R5489:Bms1 UTSW 6 118,390,706 (GRCm39) missense possibly damaging 0.64
R5511:Bms1 UTSW 6 118,365,848 (GRCm39) missense possibly damaging 0.85
R5636:Bms1 UTSW 6 118,365,786 (GRCm39) missense probably benign 0.00
R5815:Bms1 UTSW 6 118,381,240 (GRCm39) missense probably damaging 1.00
R6245:Bms1 UTSW 6 118,373,797 (GRCm39) missense probably damaging 0.96
R6299:Bms1 UTSW 6 118,395,476 (GRCm39) missense probably damaging 0.98
R6389:Bms1 UTSW 6 118,380,196 (GRCm39) missense possibly damaging 0.91
R6838:Bms1 UTSW 6 118,393,455 (GRCm39) missense probably benign 0.00
R7129:Bms1 UTSW 6 118,380,122 (GRCm39) nonsense probably null
R7414:Bms1 UTSW 6 118,360,706 (GRCm39) missense possibly damaging 0.93
R7811:Bms1 UTSW 6 118,380,099 (GRCm39) missense probably damaging 0.99
R7883:Bms1 UTSW 6 118,365,735 (GRCm39) missense probably benign 0.04
R8046:Bms1 UTSW 6 118,385,105 (GRCm39) missense probably benign
R8068:Bms1 UTSW 6 118,390,711 (GRCm39) missense probably damaging 1.00
R8098:Bms1 UTSW 6 118,361,219 (GRCm39) missense probably damaging 0.98
R8176:Bms1 UTSW 6 118,395,411 (GRCm39) missense probably damaging 1.00
R8424:Bms1 UTSW 6 118,365,721 (GRCm39) missense probably benign 0.24
R8728:Bms1 UTSW 6 118,369,331 (GRCm39) missense possibly damaging 0.93
R8793:Bms1 UTSW 6 118,360,784 (GRCm39) missense probably damaging 1.00
R8970:Bms1 UTSW 6 118,369,292 (GRCm39) missense possibly damaging 0.92
R9234:Bms1 UTSW 6 118,375,044 (GRCm39) missense probably damaging 0.96
R9440:Bms1 UTSW 6 118,382,217 (GRCm39) missense probably benign
R9701:Bms1 UTSW 6 118,368,147 (GRCm39) missense probably damaging 0.98
R9802:Bms1 UTSW 6 118,368,147 (GRCm39) missense probably damaging 0.98
X0067:Bms1 UTSW 6 118,381,795 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TTCCTTGTGGAGTGATAGGACC -3'
(R):5'- CCCTTTGCTGCAAGATTGG -3'

Sequencing Primer
(F):5'- CCTTGTGGAGTGATAGGACCTTAAAG -3'
(R):5'- GAGATGGGTCATTTGGATGTACACTC -3'
Posted On 2014-08-25