Incidental Mutation 'IGL02403:Bms1'
ID291945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bms1
Ensembl Gene ENSMUSG00000030138
Gene NameBMS1, ribosome biogenesis factor
SynonymsBms1l
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02403
Quality Score
Status
Chromosome6
Chromosomal Location118383381-118419474 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118405224 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 451 (E451G)
Ref Sequence ENSEMBL: ENSMUSP00000032237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032237]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032237
AA Change: E451G

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: E451G

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A G 4: 35,205,887 probably benign Het
4932438A13Rik T C 3: 37,030,664 S3922P probably benign Het
Abcc8 A G 7: 46,105,803 probably null Het
Alk C A 17: 71,901,393 G944V probably damaging Het
Alox15 T C 11: 70,345,901 D446G probably damaging Het
Apof A G 10: 128,269,484 probably null Het
Arhgap28 T G 17: 67,873,159 D81A possibly damaging Het
Capn13 T A 17: 73,351,426 T216S possibly damaging Het
Ccdc28a A T 10: 18,214,183 probably benign Het
Cdip1 T C 16: 4,768,812 T150A probably damaging Het
Chrnb3 T A 8: 27,393,808 L191Q probably damaging Het
Chst2 G A 9: 95,405,232 Q354* probably null Het
Cldn11 T C 3: 31,150,196 V16A probably benign Het
Cyp4f18 A G 8: 71,998,228 M198T probably damaging Het
Dhx30 A G 9: 110,091,519 L280P probably damaging Het
Disc1 A G 8: 125,135,519 probably benign Het
Dnm1l T C 16: 16,336,976 I172V possibly damaging Het
Edem2 T C 2: 155,709,063 D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 T3M probably benign Het
Fdxacb1 T A 9: 50,771,563 S275R possibly damaging Het
Gm7275 C A 16: 48,073,628 noncoding transcript Het
Helz2 A T 2: 181,231,022 I2468N probably damaging Het
Ift46 C A 9: 44,786,879 P213Q probably damaging Het
Irf2 G T 8: 46,846,172 V334F probably damaging Het
Lrp4 T A 2: 91,508,582 V1786E probably benign Het
Mfsd5 A G 15: 102,280,538 Y115C probably benign Het
Muc5ac A G 7: 141,803,450 R1154G possibly damaging Het
Nek4 G T 14: 30,964,051 E314* probably null Het
Oas2 C T 5: 120,748,750 G117D possibly damaging Het
Olfr1057 A T 2: 86,374,523 D296E probably benign Het
Pikfyve C T 1: 65,244,504 H767Y probably damaging Het
Pkhd1 T C 1: 20,562,418 H591R probably benign Het
Pygl T A 12: 70,194,258 I672F probably benign Het
Rft1 G T 14: 30,660,321 probably benign Het
Ripor3 A C 2: 167,989,330 L517R probably damaging Het
Serpina3b A G 12: 104,130,462 M1V probably null Het
Sgce C T 6: 4,694,059 R263Q probably damaging Het
Stard6 A T 18: 70,496,112 probably null Het
Them4 T C 3: 94,323,671 F117L probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttc26 A G 6: 38,409,438 M365V possibly damaging Het
Vmn2r116 G T 17: 23,387,364 D417Y probably damaging Het
Other mutations in Bms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bms1 APN 6 118404583 missense probably benign 0.01
IGL00763:Bms1 APN 6 118418402 splice site probably benign
IGL00839:Bms1 APN 6 118405291 missense probably benign 0.30
IGL02005:Bms1 APN 6 118404585 missense probably damaging 1.00
IGL02271:Bms1 APN 6 118389329 missense probably benign 0.10
IGL02474:Bms1 APN 6 118416519 missense probably benign 0.00
IGL03230:Bms1 APN 6 118418561 missense possibly damaging 0.88
IGL03277:Bms1 APN 6 118405122 missense probably benign
PIT4508001:Bms1 UTSW 6 118383806 missense probably benign 0.03
R0028:Bms1 UTSW 6 118416519 missense probably benign 0.00
R0056:Bms1 UTSW 6 118405229 missense probably benign 0.00
R0056:Bms1 UTSW 6 118405229 missense probably benign 0.00
R0276:Bms1 UTSW 6 118408134 missense possibly damaging 0.87
R0295:Bms1 UTSW 6 118389337 missense probably benign 0.04
R0360:Bms1 UTSW 6 118405290 missense probably benign 0.13
R0556:Bms1 UTSW 6 118413179 missense probably damaging 1.00
R1078:Bms1 UTSW 6 118405221 missense probably benign 0.00
R1583:Bms1 UTSW 6 118389389 splice site probably benign
R1815:Bms1 UTSW 6 118383781 missense probably damaging 1.00
R1957:Bms1 UTSW 6 118392978 missense probably damaging 0.98
R2045:Bms1 UTSW 6 118392627 missense probably damaging 1.00
R2511:Bms1 UTSW 6 118391153 splice site probably null
R4293:Bms1 UTSW 6 118405347 splice site probably null
R4296:Bms1 UTSW 6 118404999 missense probably damaging 0.96
R4467:Bms1 UTSW 6 118383847 missense probably damaging 0.99
R4688:Bms1 UTSW 6 118392706 missense probably damaging 1.00
R4718:Bms1 UTSW 6 118403235 missense possibly damaging 0.91
R5015:Bms1 UTSW 6 118404263 nonsense probably null
R5327:Bms1 UTSW 6 118405218 missense possibly damaging 0.53
R5489:Bms1 UTSW 6 118413745 missense possibly damaging 0.64
R5511:Bms1 UTSW 6 118388887 missense possibly damaging 0.85
R5636:Bms1 UTSW 6 118388825 missense probably benign 0.00
R5815:Bms1 UTSW 6 118404279 missense probably damaging 1.00
R6245:Bms1 UTSW 6 118396836 missense probably damaging 0.96
R6299:Bms1 UTSW 6 118418515 missense probably damaging 0.98
R6389:Bms1 UTSW 6 118403235 missense possibly damaging 0.91
R6838:Bms1 UTSW 6 118416494 missense probably benign 0.00
R7129:Bms1 UTSW 6 118403161 nonsense probably null
R7414:Bms1 UTSW 6 118383745 missense possibly damaging 0.93
R7811:Bms1 UTSW 6 118403138 missense probably damaging 0.99
R7883:Bms1 UTSW 6 118388774 missense probably benign 0.04
R7966:Bms1 UTSW 6 118388774 missense probably benign 0.04
R8046:Bms1 UTSW 6 118408144 missense probably benign
R8068:Bms1 UTSW 6 118413750 missense probably damaging 1.00
R8098:Bms1 UTSW 6 118384258 missense probably damaging 0.98
X0067:Bms1 UTSW 6 118404834 missense probably benign 0.26
Posted On2015-04-16