Mutagenetix > Incidental Mutation

Incidental Mutation 'R4194:Bud13'

318487

Institutional Source

Beutler Lab

Gene Symbol

Bud13

Ensembl Gene

ENSMUSG00000032077

Gene Name

BUD13 homolog

Synonyms

D030060M11Rik

MMRRC Submission

041025-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46194281-46210084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46209793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 634 (V634E)

Ref Sequence

ENSEMBL: ENSMUSP00000074490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074957] [ENSMUST00000159565] [ENSMUST00000213932]

AlphaFold

Q8R149

Predicted Effect

probably damaging
Transcript: ENSMUST00000074957
AA Change: V634E

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

SMART Domains

Protein: ENSMUSP00000074490
Gene: ENSMUSG00000032077
AA Change: V634E

Domain	Start	End	E-Value	Type
low complexity region	25	48	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC
internal_repeat_1	122	182	5.18e-30	PROSPERO
internal_repeat_1	174	234	5.18e-30	PROSPERO
low complexity region	394	417	N/A	INTRINSIC
low complexity region	420	434	N/A	INTRINSIC
Pfam:Bud13	478	620	2.8e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138498

Predicted Effect

probably benign
Transcript: ENSMUST00000159565

SMART Domains

Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213932
AA Change: V182E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 85,972,245 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,647,115 (GRCm39)	V3142F	probably damaging	Het
Alms1	C	T	6: 85,654,972 (GRCm39)	Q3173*	probably null	Het
Ankrd26	A	G	6: 118,500,639 (GRCm39)	F944S	probably benign	Het
Arhgap11a	G	T	2: 113,672,339 (GRCm39)	H210N	probably benign	Het
Brca1	T	C	11: 101,416,113 (GRCm39)	N674D	probably benign	Het
Capn13	C	T	17: 73,646,479 (GRCm39)	M311I	possibly damaging	Het
Cdyl2	T	C	8: 117,305,903 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,720,501 (GRCm39)		probably null	Het
Col6a5	C	G	9: 105,823,113 (GRCm39)	E81D	unknown	Het
Ctbs	C	A	3: 146,156,368 (GRCm39)	H38N	probably benign	Het
Ctnnd1	T	C	2: 84,434,045 (GRCm39)	D897G	possibly damaging	Het
Cyp2d41-ps	T	C	15: 82,666,154 (GRCm39)		noncoding transcript	Het
Dnttip2	G	A	3: 122,074,410 (GRCm39)	E616K	probably damaging	Het
Epb41l5	A	T	1: 119,535,823 (GRCm39)	S348R	probably damaging	Het
Fam185a	A	G	5: 21,630,452 (GRCm39)	H96R	probably benign	Het
Fbxo11	T	C	17: 88,316,536 (GRCm39)	D279G	possibly damaging	Het
Gm3952	C	A	8: 129,486,346 (GRCm39)	G1578V	probably damaging	Het
Grb7	T	A	11: 98,345,881 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,743,616 (GRCm39)	V537A	probably benign	Het
H2-Eb2	T	A	17: 34,552,300 (GRCm39)	N48K	probably benign	Het
Kank3	A	G	17: 34,041,237 (GRCm39)		probably benign	Het
Kifap3	T	C	1: 163,743,394 (GRCm39)	S792P	probably benign	Het
Klhl35	A	T	7: 99,123,058 (GRCm39)		probably null	Het
Lpxn	T	C	19: 12,810,599 (GRCm39)	F348L	probably damaging	Het
Mef2d	A	G	3: 88,065,610 (GRCm39)	Y114C	possibly damaging	Het
Mfap3	T	A	11: 57,420,529 (GRCm39)	L170H	probably damaging	Het
Mical1	C	G	10: 41,357,624 (GRCm39)	F410L	possibly damaging	Het
Mppe1	G	A	18: 67,361,139 (GRCm39)	S206F	probably benign	Het
Myo9b	C	T	8: 71,812,268 (GRCm39)	A2013V	possibly damaging	Het
Phactr3	T	C	2: 177,924,902 (GRCm39)	V243A	possibly damaging	Het
Ppp4r4	T	C	12: 103,524,704 (GRCm39)	L92P	probably damaging	Het
Prss59	A	T	6: 40,898,005 (GRCm39)	V226E	probably damaging	Het
Rap1gds1	C	T	3: 138,664,851 (GRCm39)	D236N	probably damaging	Het
Rnf8	T	C	17: 29,850,642 (GRCm39)		probably benign	Het
Rpl31-ps17	C	T	12: 54,748,434 (GRCm39)		noncoding transcript	Het
Sfta2	T	C	17: 35,939,057 (GRCm39)		probably null	Het
Sipa1l2	T	A	8: 126,218,411 (GRCm39)	T309S	probably benign	Het
Sos1	T	C	17: 80,706,013 (GRCm39)	D1186G	probably benign	Het
Sptb	C	A	12: 76,659,784 (GRCm39)	V1039F	probably benign	Het
Sycp3	T	C	10: 88,299,237 (GRCm39)	V68A	probably benign	Het
Tas1r3	T	C	4: 155,947,442 (GRCm39)	E81G	probably damaging	Het
Ttc3	G	A	16: 94,223,136 (GRCm39)	R253H	probably damaging	Het
Ugt1a7c	A	G	1: 88,023,449 (GRCm39)	T203A	possibly damaging	Het
Vtcn1	A	T	3: 100,795,525 (GRCm39)	E164V	probably damaging	Het
Zan	T	C	5: 137,461,817 (GRCm39)	T1121A	unknown	Het
Zfp473	T	C	7: 44,381,676 (GRCm39)	I885V	probably benign	Het
Zfp990	A	T	4: 145,263,547 (GRCm39)		probably null	Het

Other mutations in Bud13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02323:Bud13	APN	9	46,194,350 (GRCm39)	missense	probably benign
P0026:Bud13	UTSW	9	46,199,656 (GRCm39)	missense	probably benign
R1587:Bud13	UTSW	9	46,201,513 (GRCm39)	missense	probably damaging	0.98
R1808:Bud13	UTSW	9	46,199,705 (GRCm39)	missense	probably benign	0.00
R1840:Bud13	UTSW	9	46,197,706 (GRCm39)	missense	probably damaging	1.00
R2517:Bud13	UTSW	9	46,199,446 (GRCm39)	missense	probably benign	0.39
R3838:Bud13	UTSW	9	46,201,490 (GRCm39)	missense	possibly damaging	0.68
R5474:Bud13	UTSW	9	46,199,251 (GRCm39)	missense	probably damaging	0.97
R5510:Bud13	UTSW	9	46,203,498 (GRCm39)	missense	probably damaging	1.00
R5761:Bud13	UTSW	9	46,199,350 (GRCm39)	missense	probably benign	0.00
R7248:Bud13	UTSW	9	46,194,413 (GRCm39)	nonsense	probably null
R7420:Bud13	UTSW	9	46,199,113 (GRCm39)	missense	probably benign	0.10
R7432:Bud13	UTSW	9	46,198,372 (GRCm39)	missense	probably benign	0.01
R7444:Bud13	UTSW	9	46,209,799 (GRCm39)	missense	probably damaging	1.00
R8352:Bud13	UTSW	9	46,199,377 (GRCm39)	missense	possibly damaging	0.83
R8353:Bud13	UTSW	9	46,199,499 (GRCm39)	missense	probably benign
R8452:Bud13	UTSW	9	46,199,377 (GRCm39)	missense	possibly damaging	0.83
R8453:Bud13	UTSW	9	46,199,499 (GRCm39)	missense	probably benign
Z1177:Bud13	UTSW	9	46,203,038 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAACCGGGACTGAGAAG -3'
(R):5'- TAAAGAAGTCACCGTGTCCTGC -3'

Sequencing Primer
(F):5'- GGAACTCTCTATAGTCCAGACTGG -3'
(R):5'- TCTCTTAGCAGGACTCCT -3'

Posted On

2015-06-10