Incidental Mutation 'R4688:Bms1'
ID 353854
Institutional Source Beutler Lab
Gene Symbol Bms1
Ensembl Gene ENSMUSG00000030138
Gene Name BMS1, ribosome biogenesis factor
Synonyms Bms1l
MMRRC Submission 041939-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4688 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 118360342-118396435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118369667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 934 (R934C)
Ref Sequence ENSEMBL: ENSMUSP00000032237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032237]
AlphaFold Q6PGF5
Predicted Effect probably damaging
Transcript: ENSMUST00000032237
AA Change: R934C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: R934C

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,680 (GRCm39) N535S probably damaging Het
Abcc12 T C 8: 87,275,323 (GRCm39) S452G possibly damaging Het
Acacb C A 5: 114,342,824 (GRCm39) Q897K probably benign Het
Acot3 C A 12: 84,100,691 (GRCm39) R145S probably damaging Het
Ankrd54 A T 15: 78,938,782 (GRCm39) Y247N probably damaging Het
Arl11 G A 14: 61,548,546 (GRCm39) V119I probably benign Het
Atosb A G 4: 43,034,663 (GRCm39) F352S probably damaging Het
Atxn7 T A 14: 14,089,288 (GRCm38) M268K probably benign Het
Brd10 A G 19: 29,694,501 (GRCm39) I1664T probably benign Het
Chrnb3 T C 8: 27,884,147 (GRCm39) S295P probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cnr1 A T 4: 33,944,571 (GRCm39) I320F probably benign Het
Cntn4 C T 6: 106,414,910 (GRCm39) P147L probably damaging Het
Col24a1 G A 3: 145,020,144 (GRCm39) V172I probably benign Het
Col9a3 A G 2: 180,249,424 (GRCm39) D262G probably damaging Het
Csrnp2 A G 15: 100,380,241 (GRCm39) V350A probably damaging Het
D630045J12Rik A G 6: 38,173,592 (GRCm39) V192A possibly damaging Het
Deptor A G 15: 55,072,177 (GRCm39) M219V probably benign Het
Dmrtb1 A T 4: 107,541,247 (GRCm39) L38Q probably damaging Het
Dvl2 G A 11: 69,898,344 (GRCm39) R367Q possibly damaging Het
Dync1h1 T G 12: 110,621,962 (GRCm39) I3435S probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Eif2b3 A G 4: 116,916,046 (GRCm39) N218D probably benign Het
Epha2 A G 4: 141,046,292 (GRCm39) D497G probably benign Het
Epha7 G T 4: 28,821,367 (GRCm39) L177F probably damaging Het
Fam98c C T 7: 28,854,666 (GRCm39) E147K probably damaging Het
Fbxo17 A G 7: 28,431,979 (GRCm39) T19A probably benign Het
Fbxo47 A G 11: 97,747,049 (GRCm39) F339S probably damaging Het
Frmd4a G T 2: 4,542,122 (GRCm39) V234L possibly damaging Het
Gal3st2 A G 1: 93,800,245 (GRCm39) D32G probably damaging Het
Gpr135 T C 12: 72,117,720 (GRCm39) T16A probably benign Het
Gpr160 A T 3: 30,950,835 (GRCm39) R302S probably benign Het
Hrh2 C A 13: 54,368,820 (GRCm39) N265K probably benign Het
Htatip2 C A 7: 49,423,171 (GRCm39) A242E probably damaging Het
Igfbp7 T C 5: 77,555,482 (GRCm39) Y127C probably damaging Het
Igkv16-104 A G 6: 68,402,878 (GRCm39) Q57R possibly damaging Het
Ino80c A G 18: 24,241,903 (GRCm39) S161P probably damaging Het
Itprid1 G A 6: 55,944,132 (GRCm39) probably null Het
Kcnc1 A G 7: 46,047,259 (GRCm39) D53G probably benign Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Lce1h G T 3: 92,670,874 (GRCm39) R93S unknown Het
Lce1k T C 3: 92,713,951 (GRCm39) S78G unknown Het
Lhcgr T A 17: 89,072,580 (GRCm39) I156F probably damaging Het
Lpl T C 8: 69,352,077 (GRCm39) Y343H probably damaging Het
Lrp6 G T 6: 134,456,706 (GRCm39) R853S probably damaging Het
Lrrc7 A G 3: 157,854,242 (GRCm39) V1322A probably damaging Het
Lrrc74a C T 12: 86,784,472 (GRCm39) Q67* probably null Het
Megf6 A T 4: 154,338,271 (GRCm39) D447V probably damaging Het
Mep1a T C 17: 43,793,139 (GRCm39) D355G possibly damaging Het
Ncoa1 T C 12: 4,365,781 (GRCm39) D95G probably benign Het
Npepl1 A T 2: 173,956,235 (GRCm39) I139F possibly damaging Het
Nrcam T C 12: 44,594,020 (GRCm39) S262P probably benign Het
Nrp1 A G 8: 129,229,047 (GRCm39) N842D probably benign Het
Olfml3 A G 3: 103,639,497 (GRCm39) probably benign Het
Or1x6 A G 11: 50,939,815 (GRCm39) R294G probably damaging Het
Or4b1d T A 2: 89,969,343 (GRCm39) N47Y possibly damaging Het
Or6b6 T A 7: 106,571,068 (GRCm39) Y161F probably benign Het
Or6c204 G A 10: 129,022,514 (GRCm39) P259S probably damaging Het
Or6k8-ps1 T C 1: 173,979,162 (GRCm39) Y27H possibly damaging Het
Or8b3b A G 9: 38,584,659 (GRCm39) L27P probably damaging Het
Or9i1b A T 19: 13,896,605 (GRCm39) T74S probably benign Het
Pde2a A G 7: 101,152,041 (GRCm39) N316S probably benign Het
Pde4dip T A 3: 97,750,993 (GRCm39) R74* probably null Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Piezo1 A T 8: 123,215,278 (GRCm39) W1444R probably damaging Het
Pla2g4e T C 2: 119,998,414 (GRCm39) K843R possibly damaging Het
Plxna2 C T 1: 194,326,753 (GRCm39) P229L probably damaging Het
Prelid3b G T 2: 174,308,592 (GRCm39) T131K probably benign Het
Pros1 T C 16: 62,709,370 (GRCm39) probably null Het
Prrc2c G T 1: 162,525,256 (GRCm39) P450Q unknown Het
Ptbp1 G T 10: 79,692,342 (GRCm39) V5F possibly damaging Het
Ptk2 T A 15: 73,078,074 (GRCm39) L997F probably damaging Het
Rims1 G T 1: 22,518,528 (GRCm39) S525* probably null Het
Sanbr A G 11: 23,543,449 (GRCm39) S530P probably benign Het
Sh2b3 T A 5: 121,956,697 (GRCm39) D318V probably benign Het
Slc16a13 A T 11: 70,111,101 (GRCm39) I88N probably damaging Het
Slit2 T A 5: 48,414,345 (GRCm39) probably null Het
Snx10 A G 6: 51,556,918 (GRCm39) N67S probably damaging Het
Stil A G 4: 114,898,505 (GRCm39) Y1045C probably damaging Het
Stra6 A G 9: 58,042,359 (GRCm39) probably null Het
Sympk A G 7: 18,788,335 (GRCm39) S1254G probably benign Het
Syt15 G T 14: 33,950,011 (GRCm39) G377V probably damaging Het
Taar4 A T 10: 23,836,731 (GRCm39) I114F probably damaging Het
Tcaf3 G A 6: 42,570,300 (GRCm39) probably null Het
Tgm7 A T 2: 120,924,502 (GRCm39) N558K probably benign Het
Tln2 T G 9: 67,304,935 (GRCm39) M1L probably benign Het
Trim50 C T 5: 135,395,994 (GRCm39) T314I probably damaging Het
Trp53rka A T 2: 165,333,312 (GRCm39) Y192* probably null Het
Ube3b T C 5: 114,531,139 (GRCm39) V211A probably benign Het
Ush2a A G 1: 188,132,138 (GRCm39) S787G probably benign Het
Vmn1r189 T C 13: 22,286,289 (GRCm39) M183V probably damaging Het
Vps13d G T 4: 144,904,782 (GRCm39) Q115K probably benign Het
Zfp358 A G 8: 3,545,493 (GRCm39) D25G probably damaging Het
Zfp521 T G 18: 13,977,647 (GRCm39) K922T probably damaging Het
Zfp521 T A 18: 13,977,648 (GRCm39) K922* probably null Het
Zfp68 T A 5: 138,614,743 (GRCm39) K4* probably null 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
R2045:Bms1 UTSW 6 118,369,588 (GRCm39) missense probably damaging 1.00
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
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'- TTGGGTTTCAAGACAGACAAAG -3'
(R):5'- ATTTGTGCAGAACTTTGACCCAC -3'

Sequencing Primer
(F):5'- AGAACAAAACTATAGGGATAGCCTG -3'
(R):5'- ACACTACCCAATTATTCTGGGTGG -3'
Posted On 2015-10-21