Incidental Mutation 'IGL03281:Bud23'
ID415593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bud23
Ensembl Gene ENSMUSG00000005378
Gene NameBUD23, rRNA methyltransferase and ribosome maturation factor
Synonyms1110003N24Rik, Wbscr22
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03281
Quality Score
Status
Chromosome5
Chromosomal Location135052957-135064959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 135063887 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 28 (R28H)
Ref Sequence ENSEMBL: ENSMUSP00000083146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071263] [ENSMUST00000071677] [ENSMUST00000085984] [ENSMUST00000111205] [ENSMUST00000141309] [ENSMUST00000148549] [ENSMUST00000201554]
Predicted Effect probably benign
Transcript: ENSMUST00000071263
SMART Domains Protein: ENSMUSP00000094318
Gene: ENSMUSG00000061118

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
DnaJ 41 99 8.75e-19 SMART
low complexity region 123 141 N/A INTRINSIC
low complexity region 167 187 N/A INTRINSIC
low complexity region 204 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071677
SMART Domains Protein: ENSMUSP00000071600
Gene: ENSMUSG00000005378

DomainStartEndE-ValueType
Pfam:Methyltransf_11 36 120 4.7e-13 PFAM
Pfam:WBS_methylT 182 258 9.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085984
AA Change: R28H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000083146
Gene: ENSMUSG00000005378
AA Change: R28H

DomainStartEndE-ValueType
Pfam:Methyltransf_11 58 143 5.3e-11 PFAM
Pfam:WBS_methylT 204 279 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111205
AA Change: R28H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106836
Gene: ENSMUSG00000005378
AA Change: R28H

DomainStartEndE-ValueType
Pfam:Methyltransf_11 58 142 1.1e-12 PFAM
Pfam:WBS_methylT 168 245 1.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129013
Predicted Effect probably benign
Transcript: ENSMUST00000141309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144891
Predicted Effect probably benign
Transcript: ENSMUST00000148549
SMART Domains Protein: ENSMUSP00000118370
Gene: ENSMUSG00000005378

DomainStartEndE-ValueType
Pfam:Methyltransf_23 3 89 1.4e-8 PFAM
Pfam:Methyltransf_11 27 93 5.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149108
Predicted Effect probably benign
Transcript: ENSMUST00000201554
Predicted Effect unknown
Transcript: ENSMUST00000202478
AA Change: R20H
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 encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,775 R361H probably benign Het
A830010M20Rik A T 5: 107,503,876 T212S probably benign Het
Abcd2 G T 15: 91,151,673 T663K probably damaging Het
Celsr2 T C 3: 108,412,940 Y852C probably damaging Het
Dll1 C A 17: 15,373,604 R167L probably benign Het
Hmgxb4 A G 8: 75,024,162 T538A probably damaging Het
Hrh4 T C 18: 13,022,469 V355A possibly damaging Het
Hrnr A T 3: 93,322,851 E132V probably benign Het
Ighv7-1 A T 12: 113,896,951 probably benign Het
Kcnu1 A T 8: 25,892,077 Q485L probably null Het
Lrp1b T A 2: 40,725,514 M3626L probably benign Het
Magea6 G T X: 154,924,627 C144* probably null Het
Map1a G T 2: 121,305,060 R1881L probably damaging Het
Naip2 T A 13: 100,161,620 Y636F probably damaging Het
Olfr536 T A 7: 140,503,800 I220F probably damaging Het
Olfr791 T A 10: 129,526,403 F59I probably benign Het
Prg4 A G 1: 150,450,088 probably benign Het
Ptpn4 T G 1: 119,659,912 Q900H probably damaging Het
Ralgps1 A G 2: 33,172,416 probably null Het
Rasgrp4 C T 7: 29,146,025 A381V possibly damaging Het
Selenbp1 A T 3: 94,937,310 K93* probably null Het
Skint5 T A 4: 113,667,218 K855N unknown Het
Tssk4 T C 14: 55,650,428 V27A possibly damaging Het
Ttc39a C A 4: 109,433,022 Q310K possibly damaging Het
Utp18 C T 11: 93,875,958 V276I probably damaging Het
Vmn2r45 C A 7: 8,483,604 L228F probably damaging Het
Other mutations in Bud23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Bud23 APN 5 135061081 missense probably damaging 0.99
R1103:Bud23 UTSW 5 135061139 missense probably damaging 1.00
R1765:Bud23 UTSW 5 135056043 missense probably benign 0.00
R3710:Bud23 UTSW 5 135056350 missense possibly damaging 0.54
R4486:Bud23 UTSW 5 135063925 unclassified probably null
R5109:Bud23 UTSW 5 135061023 intron probably benign
R5550:Bud23 UTSW 5 135063890 missense probably benign
R5614:Bud23 UTSW 5 135059112 missense probably benign 0.00
R5822:Bud23 UTSW 5 135063921 missense probably damaging 1.00
Posted On2016-08-02