Incidental Mutation 'R6389:Bms1'
ID 515690
Institutional Source Beutler Lab
Gene Symbol Bms1
Ensembl Gene ENSMUSG00000030138
Gene Name BMS1, ribosome biogenesis factor
Synonyms Bms1l
MMRRC Submission 044538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6389 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 118360342-118396435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118380196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 704 (N704D)
Ref Sequence ENSEMBL: ENSMUSP00000032237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032237]
AlphaFold Q6PGF5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032237
AA Change: N704D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: N704D

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Ago4 T A 4: 126,401,037 (GRCm39) I603F probably damaging Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Clu G C 14: 66,208,771 (GRCm39) probably benign Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
D16Ertd472e A G 16: 78,342,071 (GRCm39) S270P probably damaging Het
Dmp1 A T 5: 104,360,788 (GRCm39) N488I probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Map3k1 T C 13: 111,905,975 (GRCm39) D289G probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Pisd A G 5: 32,922,191 (GRCm39) Y250H probably damaging Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Slc9a4 A G 1: 40,619,844 (GRCm39) I57V probably benign Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P 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
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
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
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'- GCCTCTTTCCAAAGGCAACAG -3'
(R):5'- TTGCAAGAGGATAAGTCTCCCAG -3'

Sequencing Primer
(F):5'- GGCAACAGACTAGTCAGCGTTAC -3'
(R):5'- AATGGTAGATTTTTAGCTTTTGGACC -3'
Posted On 2018-05-04