Incidental Mutation 'R7811:Bms1'
ID 601159
Institutional Source Beutler Lab
Gene Symbol Bms1
Ensembl Gene ENSMUSG00000030138
Gene Name BMS1, ribosome biogenesis factor
Synonyms Bms1l
MMRRC Submission 045866-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7811 (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 118380099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 736 (D736G)
Ref Sequence ENSEMBL: ENSMUSP00000032237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032237]
AlphaFold Q6PGF5
Predicted Effect probably damaging
Transcript: ENSMUST00000032237
AA Change: D736G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: D736G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,527,141 (GRCm39) probably null Het
Abca3 A G 17: 24,616,362 (GRCm39) T935A probably benign Het
Anxa7 A T 14: 20,510,254 (GRCm39) Y399N probably benign Het
Arhgef10l G T 4: 140,242,335 (GRCm39) T1030K possibly damaging Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Bpifb1 T A 2: 154,048,484 (GRCm39) probably null Het
Cbx4 A C 11: 118,972,398 (GRCm39) C326G probably benign Het
Ccdc188 A G 16: 18,036,314 (GRCm39) E94G probably benign Het
Cdh5 A G 8: 104,852,235 (GRCm39) T117A possibly damaging Het
Cdk11b A G 4: 155,724,359 (GRCm39) T326A unknown Het
Clec5a C T 6: 40,558,867 (GRCm39) C73Y probably damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Diaph3 T C 14: 87,219,060 (GRCm39) D455G probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Ern1 A T 11: 106,325,694 (GRCm39) V112D unknown Het
Eya3 T C 4: 132,439,272 (GRCm39) I466T possibly damaging Het
Fbxl6 T C 15: 76,421,485 (GRCm39) probably null Het
Ffar1 A G 7: 30,560,802 (GRCm39) S32P possibly damaging Het
Fgb T C 3: 82,957,004 (GRCm39) D22G probably benign Het
Fsip2 T C 2: 82,828,797 (GRCm39) Y6865H possibly damaging Het
Gbx1 T C 5: 24,710,035 (GRCm39) E270G probably damaging Het
Golga4 T C 9: 118,361,643 (GRCm39) L207P probably damaging Het
Hnrnpa1 T C 15: 103,149,900 (GRCm39) S54P possibly damaging Het
Htr4 A G 18: 62,545,269 (GRCm39) E18G possibly damaging Het
Ide A C 19: 37,307,910 (GRCm39) L34R Het
Ip6k3 A T 17: 27,376,557 (GRCm39) Y51* probably null Het
Keap1 A G 9: 21,148,956 (GRCm39) L17P possibly damaging Het
Lrrn2 T C 1: 132,866,939 (GRCm39) V668A probably benign Het
Lypd8 A T 11: 58,281,064 (GRCm39) T209S possibly damaging Het
Myo10 T C 15: 25,804,610 (GRCm39) I1635T probably damaging Het
Myo1e T A 9: 70,234,544 (GRCm39) V299E probably damaging Het
Nadk A T 4: 155,661,332 (GRCm39) probably benign Het
Nalcn A T 14: 123,536,357 (GRCm39) W1231R probably damaging Het
Odf2l A G 3: 144,859,148 (GRCm39) T602A probably benign Het
Or13g1 T A 7: 85,955,554 (GRCm39) T256S probably damaging Het
Or2r3 T A 6: 42,448,635 (GRCm39) E159V probably damaging Het
Pde6c T C 19: 38,128,507 (GRCm39) V190A possibly damaging Het
Ppp4r3a C A 12: 101,019,821 (GRCm39) R378L probably damaging Het
Pus7l A C 15: 94,438,707 (GRCm39) V46G probably damaging Het
Satb2 G A 1: 56,884,880 (GRCm39) S466L probably benign Het
Serpina6 A G 12: 103,620,395 (GRCm39) M118T probably damaging Het
Slc29a1 T C 17: 45,897,189 (GRCm39) R366G probably damaging Het
Slc6a1 T C 6: 114,279,515 (GRCm39) F98S probably damaging Het
Spg7 T C 8: 123,824,164 (GRCm39) I738T possibly damaging Het
Srcap T C 7: 127,141,221 (GRCm39) V1667A probably damaging Het
Stxbp5 T C 10: 9,684,248 (GRCm39) N574S probably benign Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Tbc1d10a T C 11: 4,136,948 (GRCm39) S54P possibly damaging Het
Trim12c T C 7: 103,990,469 (GRCm39) N336S unknown Het
Ubap2 T C 4: 41,211,710 (GRCm39) S351G probably benign Het
Unc13c G T 9: 73,600,553 (GRCm39) A1397E possibly damaging Het
Ush1c G A 7: 45,854,710 (GRCm39) R681* probably null Het
Vmn2r57 A T 7: 41,074,439 (GRCm39) C541* probably null Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Vmn2r88 A T 14: 51,656,160 (GRCm39) T790S Het
Zfp568 A G 7: 29,697,295 (GRCm39) T72A possibly damaging Het
Zfp950 A T 19: 61,108,353 (GRCm39) Y243* probably null Het
Zmym5 A G 14: 57,036,434 (GRCm39) S238P probably damaging Het
Zswim5 A G 4: 116,734,673 (GRCm39) E6G unknown 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
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
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'- CCTGCATTTGACCCTGTGTG -3'
(R):5'- ACATGTCTATAAGGACCAGAGACC -3'

Sequencing Primer
(F):5'- CCCTGTGTGTGGGGAGG -3'
(R):5'- CACAGTCCCTTGAATTCTAGGAAGTG -3'
Posted On 2019-11-26