Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01097:Bud23'

51099

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bud23

Ensembl Gene

ENSMUSG00000005378

Gene Name

BUD23, rRNA methyltransferase and ribosome maturation factor

Synonyms

1110003N24Rik, Wbscr22

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01097

Quality Score

Status

Chromosome

Chromosomal Location

135081811-135093813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135089935 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000148549] [ENSMUST00000141309] [ENSMUST00000201554]

AlphaFold

Q9CY21

Predicted Effect

probably benign
Transcript: ENSMUST00000071263

SMART Domains

Protein: ENSMUSP00000094318
Gene: ENSMUSG00000061118

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:WBS_methylT	88	138	1.8e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134180

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

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	3	89	1.4e-8	PFAM
Pfam:Methyltransf_11	27	93	5.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147756

Predicted Effect

probably benign
Transcript: ENSMUST00000202478

Predicted Effect

probably benign
Transcript: ENSMUST00000141309

Predicted Effect

probably benign
Transcript: ENSMUST00000201554

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	C	T	1: 60,486,505 (GRCm39)	A75V	probably damaging	Het
Dnajc5	T	C	2: 181,189,149 (GRCm39)	Y42H	probably benign	Het
Fchsd1	T	C	18: 38,100,810 (GRCm39)		probably null	Het
Fnbp4	C	A	2: 90,606,694 (GRCm39)	A835D	possibly damaging	Het
Gm57859	T	C	11: 113,583,296 (GRCm39)	I541T	probably benign	Het
Grin2d	A	T	7: 45,502,716 (GRCm39)	N718K	probably damaging	Het
Gsdma3	A	G	11: 98,528,398 (GRCm39)	K357E	probably damaging	Het
Impg2	T	A	16: 56,081,010 (GRCm39)		probably null	Het
Lrrtm2	A	T	18: 35,345,994 (GRCm39)	I436N	probably damaging	Het
Mterf2	T	A	10: 84,955,677 (GRCm39)	I316L	probably damaging	Het
Nav2	G	A	7: 49,220,942 (GRCm39)	A1710T	probably damaging	Het
Nrros	A	G	16: 31,963,003 (GRCm39)	V338A	possibly damaging	Het
Or2f2	T	G	6: 42,767,077 (GRCm39)	Y35D	probably damaging	Het
Or52a20	G	T	7: 103,366,328 (GRCm39)	V176F	probably benign	Het
Pappa2	T	C	1: 158,684,718 (GRCm39)	Y807C	probably damaging	Het
Slc44a4	T	C	17: 35,140,545 (GRCm39)	L246P	probably damaging	Het
Stat6	T	C	10: 127,490,801 (GRCm39)	S407P	probably damaging	Het
Ttpal	T	C	2: 163,449,240 (GRCm39)	Y32H	probably damaging	Het
Zfp523	A	G	17: 28,420,023 (GRCm39)	K223E	possibly damaging	Het

Other mutations in Bud23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03281:Bud23	APN	5	135,092,741 (GRCm39)	missense	probably benign	0.01
R1103:Bud23	UTSW	5	135,089,993 (GRCm39)	missense	probably damaging	1.00
R1765:Bud23	UTSW	5	135,084,897 (GRCm39)	missense	probably benign	0.00
R3710:Bud23	UTSW	5	135,085,204 (GRCm39)	missense	possibly damaging	0.54
R4486:Bud23	UTSW	5	135,092,779 (GRCm39)	splice site	probably null
R5109:Bud23	UTSW	5	135,089,877 (GRCm39)	intron	probably benign
R5550:Bud23	UTSW	5	135,092,744 (GRCm39)	missense	probably benign
R5614:Bud23	UTSW	5	135,087,966 (GRCm39)	missense	probably benign	0.00
R5822:Bud23	UTSW	5	135,092,775 (GRCm39)	missense	probably damaging	1.00
R7575:Bud23	UTSW	5	135,089,982 (GRCm39)	nonsense	probably null
R9573:Bud23	UTSW	5	135,082,274 (GRCm39)	missense	possibly damaging	0.95
R9608:Bud23	UTSW	5	135,086,526 (GRCm39)	critical splice acceptor site	probably null
R9673:Bud23	UTSW	5	135,082,571 (GRCm39)	missense	probably benign

Posted On

2013-06-21