Incidental Mutation 'IGL00090:Bms1'
ID 1561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bms1
Ensembl Gene ENSMUSG00000030138
Gene Name BMS1, ribosome biogenesis factor
Synonyms Bms1l
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00090
Quality Score
Status
Chromosome 6
Chromosomal Location 118360342-118396435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118381544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 665 (S665T)
Ref Sequence ENSEMBL: ENSMUSP00000032237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032237]
AlphaFold Q6PGF5
Predicted Effect probably benign
Transcript: ENSMUST00000032237
AA Change: S665T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: S665T

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Bms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12