Mutagenetix > Incidental Mutation

Incidental Mutation 'R9573:Bud23'

722107

Institutional Source

Beutler Lab

Gene Symbol

Bud23

Ensembl Gene

ENSMUSG00000005378

Gene Name

BUD23, rRNA methyltransferase and ribosome maturation factor

Synonyms

1110003N24Rik, Wbscr22

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9573 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135081811-135093813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135082274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 266 (V266I)

Ref Sequence

ENSEMBL: ENSMUSP00000083146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005509] [ENSMUST00000071677] [ENSMUST00000085984] [ENSMUST00000111205] [ENSMUST00000129691] [ENSMUST00000150838]

AlphaFold

Q9CY21

Predicted Effect

probably benign
Transcript: ENSMUST00000005509

SMART Domains

Protein: ENSMUSP00000005509
Gene: ENSMUSG00000007207

Domain	Start	End	E-Value	Type
SynN	25	146	4.44e-42	SMART
t_SNARE	187	254	3.28e-24	SMART
transmembrane domain	266	287	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071677
AA Change: V244I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071600
Gene: ENSMUSG00000005378
AA Change: V244I

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

possibly damaging
Transcript: ENSMUST00000085984
AA Change: V266I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083146
Gene: ENSMUSG00000005378
AA Change: V266I

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: V231I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106836
Gene: ENSMUSG00000005378
AA Change: V231I

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

probably damaging
Transcript: ENSMUST00000129691
AA Change: V124I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120383
Gene: ENSMUSG00000005378
AA Change: V124I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150838

SMART Domains

Protein: ENSMUSP00000117144
Gene: ENSMUSG00000007207

Domain	Start	End	E-Value	Type
SynN	25	146	4.44e-42	SMART
Pfam:SNARE	197	231	6.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202478

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,050,229 (GRCm39)	V472E	probably damaging	Het
Ak3	T	C	19: 29,003,667 (GRCm39)	I170V	probably benign	Het
Ank3	T	A	10: 69,791,977 (GRCm39)	L1058*	probably null	Het
Ankrd60	A	G	2: 173,410,791 (GRCm39)	V243A	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arid3c	T	G	4: 41,726,003 (GRCm39)	E200A	probably benign	Het
Astn2	T	G	4: 65,566,591 (GRCm39)	I856L	probably benign	Het
Bcs1l	C	A	1: 74,629,492 (GRCm39)	R177S	probably damaging	Het
Bin2	A	T	15: 100,560,433 (GRCm39)	F43I	probably damaging	Het
Braf	A	G	6: 39,600,544 (GRCm39)	L691P	probably damaging	Het
Casp12	A	T	9: 5,354,629 (GRCm39)	I333L	probably benign	Het
Cavin2	T	A	1: 51,328,795 (GRCm39)	I84N	probably damaging	Het
Ccdc168	A	C	1: 44,095,307 (GRCm39)	Y1930*	probably null	Het
Ccdc196	A	T	12: 78,244,098 (GRCm39)	N17I		Het
Cep170b	T	A	12: 112,691,154 (GRCm39)	F24I	probably damaging	Het
Chd9	A	G	8: 91,704,302 (GRCm39)	Y719C	unknown	Het
Commd7	A	G	2: 153,463,981 (GRCm39)	M137T	probably damaging	Het
Dmbt1	G	A	7: 130,657,910 (GRCm39)		probably null	Het
Dnah12	A	C	14: 26,414,619 (GRCm39)	T7P	probably benign	Het
Elapor1	A	T	3: 108,373,094 (GRCm39)	I548N	probably damaging	Het
Endod1	A	T	9: 14,292,247 (GRCm39)	L7Q	probably damaging	Het
Galnt14	C	T	17: 73,802,662 (GRCm39)	V477M	probably damaging	Het
Glis2	C	T	16: 4,429,505 (GRCm39)	R211C	probably damaging	Het
Gm4744	A	T	6: 40,925,497 (GRCm39)	V122D		Het
Gm4952	G	A	19: 12,604,090 (GRCm39)	M167I	probably benign	Het
Hyal4	T	C	6: 24,756,508 (GRCm39)	V242A	possibly damaging	Het
Ift122	T	G	6: 115,857,646 (GRCm39)	S131A	probably benign	Het
Il4ra	T	A	7: 125,169,158 (GRCm39)	S137T	possibly damaging	Het
Lcor	T	A	19: 41,573,471 (GRCm39)	L742Q	probably damaging	Het
Lpin2	A	G	17: 71,538,185 (GRCm39)	K315R	probably benign	Het
Map3k6	T	C	4: 132,979,774 (GRCm39)	Y1258H	probably damaging	Het
Mapk9	A	T	11: 49,769,239 (GRCm39)	K290N	probably damaging	Het
Mfhas1	C	T	8: 36,143,903 (GRCm39)	H1045Y	possibly damaging	Het
Ndufaf7	C	A	17: 79,246,036 (GRCm39)	Q90K	probably damaging	Het
Nlrc3	A	T	16: 3,771,841 (GRCm39)	V157E	probably benign	Het
Npas4	A	G	19: 5,035,837 (GRCm39)	F776L	probably benign	Het
Nuggc	A	C	14: 65,848,603 (GRCm39)	D184A	probably benign	Het
Ogdhl	A	G	14: 32,066,678 (GRCm39)	E795G	probably damaging	Het
Or5a1	A	G	19: 12,097,509 (GRCm39)	I189T	probably damaging	Het
Or9a2	T	G	6: 41,748,940 (GRCm39)	I98L	probably benign	Het
Pcbp1	A	T	6: 86,502,677 (GRCm39)	M74K	possibly damaging	Het
Plk4	A	G	3: 40,763,257 (GRCm39)	D476G	probably benign	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Rab44	A	T	17: 29,364,277 (GRCm39)	Y617F	unknown	Het
Rabepk	T	C	2: 34,675,627 (GRCm39)	R168G	probably benign	Het
Rbmyf9	T	A	Y: 3,775,370 (GRCm39)	M40K	possibly damaging	Het
Rif1	T	G	2: 52,000,466 (GRCm39)	S1307A	probably benign	Het
Ror2	C	T	13: 53,265,467 (GRCm39)	V542I	probably benign	Het
Rtp1	A	G	16: 23,250,159 (GRCm39)	I175V	possibly damaging	Het
Slc11a2	T	A	15: 100,304,225 (GRCm39)	I158F	probably damaging	Het
Slc24a3	T	G	2: 145,455,548 (GRCm39)	M479R	probably damaging	Het
Slc4a9	T	C	18: 36,668,589 (GRCm39)	F723S	probably damaging	Het
Syne2	C	A	12: 75,927,134 (GRCm39)	N93K	probably damaging	Het
Sytl2	A	G	7: 90,057,599 (GRCm39)	Q846R	probably damaging	Het
Tas2r116	A	C	6: 132,833,140 (GRCm39)	H247P	probably benign	Het
Tcstv3	T	C	13: 120,779,130 (GRCm39)	S10P	probably damaging	Het
Tgm7	T	C	2: 120,934,606 (GRCm39)	N124S	probably benign	Het
Tmem219	A	T	7: 126,490,933 (GRCm39)	Y175N	probably damaging	Het
Tnfrsf18	G	A	4: 156,112,484 (GRCm39)	G114S	possibly damaging	Het
Trim38	G	A	13: 23,966,688 (GRCm39)	C45Y	probably benign	Het
Tshz1	T	C	18: 84,032,404 (GRCm39)	E668G	probably benign	Het
Ubr4	T	A	4: 139,148,450 (GRCm39)	M382K		Het
Vps39	T	C	2: 120,155,179 (GRCm39)	E549G	possibly damaging	Het
Wdr35	G	A	12: 9,078,014 (GRCm39)	G1135D	probably benign	Het
Zbtb46	A	G	2: 181,053,548 (GRCm39)	L388P	probably benign	Het
Zdhhc25	T	A	15: 88,485,307 (GRCm39)	M214K	probably damaging	Het
Zfp735	G	A	11: 73,602,936 (GRCm39)	E627K	possibly damaging	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
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
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'- CAGTCCAGAGAATTCCCCAG -3'
(R):5'- TGTGCACATCTTAGCCATCC -3'

Sequencing Primer
(F):5'- AGAATTCCCCAGAGGCAGGTC -3'
(R):5'- TCTGTCTCTGGCCAGGG -3'

Posted On

2022-08-09