Mutagenetix > Incidental Mutation

Incidental Mutation 'R3710:Bud23'

259535

Institutional Source

Beutler Lab

Gene Symbol

Bud23

Ensembl Gene

ENSMUSG00000005378

Gene Name

BUD23, rRNA methyltransferase and ribosome maturation factor

Synonyms

1110003N24Rik, Wbscr22

MMRRC Submission

040703-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135081811-135093813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 135085204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 41 (S41A)

Ref Sequence

ENSEMBL: ENSMUSP00000120383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071677] [ENSMUST00000085984] [ENSMUST00000111205] [ENSMUST00000129691] [ENSMUST00000141309] [ENSMUST00000148549]

AlphaFold

Q9CY21

Predicted Effect

probably benign
Transcript: ENSMUST00000071677
AA Change: S189A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071600
Gene: ENSMUSG00000005378
AA Change: S189A

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 benign
Transcript: ENSMUST00000085984
AA Change: S211A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083146
Gene: ENSMUSG00000005378
AA Change: S211A

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 benign
Transcript: ENSMUST00000111205

SMART Domains

Protein: ENSMUSP00000106836
Gene: ENSMUSG00000005378

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

possibly damaging
Transcript: ENSMUST00000129691
AA Change: S41A

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120383
Gene: ENSMUSG00000005378
AA Change: S41A

Domain	Start	End	E-Value	Type
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: ENSMUST00000151551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157383

Predicted Effect

probably benign
Transcript: ENSMUST00000148549

SMART Domains

Protein: ENSMUSP00000118370
Gene: ENSMUSG00000005378

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

probably benign
Transcript: ENSMUST00000202478

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (55/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,597,384 (GRCm39)		probably benign	Het
Agbl2	G	A	2: 90,636,152 (GRCm39)	D563N	probably benign	Het
Aida	C	A	1: 183,085,610 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,577,095 (GRCm39)	D200G	probably damaging	Het
Ankrd28	A	G	14: 31,470,808 (GRCm39)		probably benign	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Atrnl1	C	A	19: 57,645,546 (GRCm39)	H469N	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Car12	G	T	9: 66,658,260 (GRCm39)	A21S	probably damaging	Het
Cav3	T	A	6: 112,436,774 (GRCm39)	M1K	probably null	Het
Cdc42bpa	A	G	1: 179,892,628 (GRCm39)	D264G	probably damaging	Het
Cic	A	G	7: 24,986,406 (GRCm39)	D1276G	probably damaging	Het
Col2a1	A	G	15: 97,888,788 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Csn3	C	A	5: 88,077,882 (GRCm39)	N129K	possibly damaging	Het
Diaph1	C	A	18: 37,978,537 (GRCm39)	G1209W	probably damaging	Het
Dsg2	A	G	18: 20,735,174 (GRCm39)	T1051A	probably damaging	Het
Gm1965	A	T	6: 89,122,407 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsto1	T	C	19: 47,847,971 (GRCm39)		probably null	Het
Il15ra	G	T	2: 11,735,458 (GRCm39)		probably null	Het
Ipo8	A	T	6: 148,707,842 (GRCm39)		probably null	Het
Lsm14a	T	A	7: 34,053,204 (GRCm39)	I283F	probably damaging	Het
Mael	T	C	1: 166,066,135 (GRCm39)	D34G	probably damaging	Het
Marchf6	A	T	15: 31,509,972 (GRCm39)		probably benign	Het
Mtmr10	C	A	7: 63,976,433 (GRCm39)	A410D	possibly damaging	Het
Myh9	T	C	15: 77,657,547 (GRCm39)	E1066G	possibly damaging	Het
Nim1k	A	G	13: 120,173,635 (GRCm39)	S420P	probably benign	Het
Nlrp4c	T	A	7: 6,068,627 (GRCm39)	V176E	probably damaging	Het
Ogfod1	A	T	8: 94,784,380 (GRCm39)	K313*	probably null	Het
Or5an1	T	G	19: 12,260,450 (GRCm39)	F13V	probably damaging	Het
Osbpl10	C	A	9: 115,036,655 (GRCm39)	P253Q	probably benign	Het
Otof	A	T	5: 30,542,610 (GRCm39)	M661K	probably benign	Het
Rbms2	C	T	10: 127,979,312 (GRCm39)	R139Q	probably damaging	Het
Rimbp2	G	A	5: 128,866,795 (GRCm39)	T508I	probably benign	Het
Ros1	A	T	10: 52,037,991 (GRCm39)	C393*	probably null	Het
Rps17	T	A	7: 80,994,672 (GRCm39)	T30S	probably benign	Het
Rps3	T	C	7: 99,128,626 (GRCm39)	K197R	probably benign	Het
Samd11	G	A	4: 156,334,952 (GRCm39)	L109F	probably damaging	Het
Smarca2	T	G	19: 26,646,290 (GRCm39)		probably benign	Het
Sprr2g	C	A	3: 92,282,036 (GRCm39)	P30Q	unknown	Het
Spz1	G	A	13: 92,711,631 (GRCm39)	Q282*	probably null	Het
Syne3	A	G	12: 104,909,697 (GRCm39)	L713P	possibly damaging	Het
Tgm1	C	A	14: 55,950,052 (GRCm39)		probably benign	Het
Tomm22	T	C	15: 79,555,419 (GRCm39)	F55L	probably damaging	Het
Tph2	T	A	10: 115,009,963 (GRCm39)	Y199F	probably benign	Het
Vmn2r108	A	T	17: 20,682,932 (GRCm39)	F757L	probably benign	Het
Vmn2r69	T	A	7: 85,055,601 (GRCm39)	T846S	probably benign	Het
Was	G	T	X: 7,952,927 (GRCm39)	S271R	probably benign	Het
Zc3hav1	A	C	6: 38,309,097 (GRCm39)	M575R	probably benign	Het

Other mutations in Bud23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Bud23	APN	5	135,089,935 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AACATGCATCCAGGTCTGAGTAAG -3'
(R):5'- GGACGAAGAGCTGTCTCCATAG -3'

Sequencing Primer
(F):5'- CAGGTCTGAGTAAGCCCCATAG -3'
(R):5'- AGCTGTCTCCATAGCTCTGGG -3'

Posted On

2015-01-23