Incidental Mutation 'IGL01097:Bud23'
ID51099
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 #IGL01097
Quality Score
Status
Chromosome5
Chromosomal Location135052957-135064959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 135061081 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 86 (A86V)
Ref Sequence ENSEMBL: ENSMUSP00000083146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071263] [ENSMUST00000071677] [ENSMUST00000085984] [ENSMUST00000111205] [ENSMUST00000129691] [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 possibly damaging
Transcript: ENSMUST00000071677
AA Change: A64V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071600
Gene: ENSMUSG00000005378
AA Change: A64V

DomainStartEndE-ValueType
Pfam:Methyltransf_11 36 120 4.7e-13 PFAM
Pfam:WBS_methylT 182 258 9.6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085984
AA Change: A86V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083146
Gene: ENSMUSG00000005378
AA Change: A86V

DomainStartEndE-ValueType
Pfam:Methyltransf_11 58 143 5.3e-11 PFAM
Pfam:WBS_methylT 204 279 1.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111205
AA Change: A86V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106836
Gene: ENSMUSG00000005378
AA Change: A86V

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: ENSMUST00000129691
SMART Domains Protein: ENSMUSP00000120383
Gene: ENSMUSG00000005378

DomainStartEndE-ValueType
Pfam:WBS_methylT 88 138 1.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134180
Predicted Effect probably benign
Transcript: ENSMUST00000141309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147756
Predicted Effect possibly damaging
Transcript: ENSMUST00000148549
AA Change: A55V

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118370
Gene: ENSMUSG00000005378
AA Change: A55V

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 noncoding transcript
Transcript: ENSMUST00000151551
Predicted Effect probably benign
Transcript: ENSMUST00000201554
Predicted Effect probably benign
Transcript: ENSMUST00000202478
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,447,346 A75V probably damaging Het
D11Wsu47e T C 11: 113,692,470 I541T probably benign Het
Dnajc5 T C 2: 181,547,356 Y42H probably benign Het
Fchsd1 T C 18: 37,967,757 probably null Het
Fnbp4 C A 2: 90,776,350 A835D possibly damaging Het
Grin2d A T 7: 45,853,292 N718K probably damaging Het
Gsdma3 A G 11: 98,637,572 K357E probably damaging Het
Impg2 T A 16: 56,260,647 probably null Het
Lrrtm2 A T 18: 35,212,941 I436N probably damaging Het
Mterf2 T A 10: 85,119,813 I316L probably damaging Het
Nav2 G A 7: 49,571,194 A1710T probably damaging Het
Nrros A G 16: 32,144,185 V338A possibly damaging Het
Olfr243 G T 7: 103,717,121 V176F probably benign Het
Olfr452 T G 6: 42,790,143 Y35D probably damaging Het
Pappa2 T C 1: 158,857,148 Y807C probably damaging Het
Slc44a4 T C 17: 34,921,569 L246P probably damaging Het
Stat6 T C 10: 127,654,932 S407P probably damaging Het
Ttpal T C 2: 163,607,320 Y32H probably damaging Het
Zfp523 A G 17: 28,201,049 K223E possibly damaging Het
Other mutations in Bud23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03281:Bud23 APN 5 135063887 missense probably benign 0.01
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 On2013-06-21