Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Bub3'

175497

Institutional Source

Beutler Lab

Gene Symbol

Bub3

Ensembl Gene

ENSMUSG00000066979

Gene Name

BUB3 mitotic checkpoint protein

Synonyms

MMRRC Submission

039628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131162081-131173625 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 131163337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051997] [ENSMUST00000084502] [ENSMUST00000124096] [ENSMUST00000207231] [ENSMUST00000207442] [ENSMUST00000207442] [ENSMUST00000207736] [ENSMUST00000208571]

AlphaFold

Q9WVA3

Predicted Effect

probably benign
Transcript: ENSMUST00000051997

SMART Domains

Protein: ENSMUSP00000058205
Gene: ENSMUSG00000050100

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
HOX	149	211	1.31e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000084502

SMART Domains

Protein: ENSMUSP00000081547
Gene: ENSMUSG00000066979

Domain	Start	End	E-Value	Type
WD40	2	43	5.69e-4	SMART
WD40	46	83	8.91e-1	SMART
WD40	88	124	5.1e-6	SMART
WD40	127	163	6.16e0	SMART
WD40	214	262	4.02e-4	SMART
WD40	265	302	1.97e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000207231

Predicted Effect

probably null
Transcript: ENSMUST00000207442

Predicted Effect

probably null
Transcript: ENSMUST00000207442

Predicted Effect

probably benign
Transcript: ENSMUST00000207736

Predicted Effect

probably benign
Transcript: ENSMUST00000208571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208848

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: This gene encodes a component of the mitotic spindle assembly complex. The encoded protein is involved in the regulation of chromosome segregation during oocyte meiosis. Disruption of this gene results in the accumulation of mitotic errors and is lethal in the embryonic stage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality by E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,957,505 (GRCm39)	Q201K	probably benign	Het
Acacb	A	T	5: 114,341,484 (GRCm39)	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,091,905 (GRCm39)	V62L	probably benign	Het
Adam6b	A	T	12: 113,453,452 (GRCm39)	I90F	probably benign	Het
Adgrf1	T	C	17: 43,621,872 (GRCm39)	L703P	probably damaging	Het
Arf3	T	C	15: 98,640,669 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,678,007 (GRCm39)	D357G	probably damaging	Het
Atr	T	C	9: 95,827,438 (GRCm39)	M2461T	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Bod1l	T	C	5: 41,976,563 (GRCm39)	I1584V	probably benign	Het
Camkk2	A	G	5: 122,895,621 (GRCm39)		probably null	Het
Cand1	G	T	10: 119,047,774 (GRCm39)	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,774,606 (GRCm39)	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,873,799 (GRCm39)	T452A	probably benign	Het
Cdh4	T	C	2: 179,528,657 (GRCm39)		probably null	Het
Cfap61	A	G	2: 145,987,378 (GRCm39)	R1060G	probably benign	Het
Chd9	A	G	8: 91,710,166 (GRCm39)	D314G	probably damaging	Het
Cplx3	C	T	9: 57,523,085 (GRCm39)	V125I	probably benign	Het
Csmd1	T	A	8: 15,950,710 (GRCm39)	I3500F	probably damaging	Het
Dnah1	G	T	14: 30,994,289 (GRCm39)	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,053,583 (GRCm39)	E2884K	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Exosc10	T	A	4: 148,652,840 (GRCm39)	I485N	probably benign	Het
Fap	T	C	2: 62,384,201 (GRCm39)	K2E	probably damaging	Het
Fgfr1	G	A	8: 26,062,736 (GRCm39)	G671D	probably damaging	Het
Fzr1	C	T	10: 81,206,201 (GRCm39)	R162Q	possibly damaging	Het
Grap2	A	T	15: 80,532,649 (GRCm39)	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200 (GRCm39)	W246R	probably damaging	Het
Kcna3	A	T	3: 106,944,345 (GRCm39)	I203F	probably damaging	Het
Kcng1	T	C	2: 168,110,630 (GRCm39)	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,680,057 (GRCm39)	H798P	probably benign	Het
Kif21b	T	C	1: 136,077,055 (GRCm39)	L359P	probably damaging	Het
Krt6a	A	T	15: 101,600,792 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrp3	A	G	7: 34,901,790 (GRCm39)	V676A	probably benign	Het
Lrrc63	T	A	14: 75,363,332 (GRCm39)	K266N	possibly damaging	Het
Mccc1	C	T	3: 36,044,006 (GRCm39)	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092 (GRCm39)	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,921,755 (GRCm39)	R71*	probably null	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Ogdh	T	C	11: 6,299,384 (GRCm39)	F750S	probably damaging	Het
Or1ak2	C	A	2: 36,827,990 (GRCm39)	N286K	probably damaging	Het
Or51aa2	T	G	7: 103,188,274 (GRCm39)	T56P	probably benign	Het
Or5p60	T	A	7: 107,723,571 (GRCm39)	I300F	possibly damaging	Het
Or8b3	A	G	9: 38,314,232 (GRCm39)	T18A	probably damaging	Het
Or8b42	A	T	9: 38,341,707 (GRCm39)	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,030,353 (GRCm39)	I194L	probably benign	Het
Pacsin2	T	C	15: 83,269,252 (GRCm39)	E14G	probably damaging	Het
Pate7	T	C	9: 35,687,952 (GRCm39)	D96G	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,618,878 (GRCm39)	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,693,904 (GRCm39)	R109K	probably benign	Het
Ppp2ca	T	C	11: 51,989,916 (GRCm39)	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,258,278 (GRCm39)	T102S	probably damaging	Het
Rsf1	T	A	7: 97,288,520 (GRCm39)	C132*	probably null	Het
Rufy1	G	A	11: 50,285,755 (GRCm39)	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,074,135 (GRCm39)	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,145,819 (GRCm39)	E172G	probably damaging	Het
Skint5	C	T	4: 113,856,651 (GRCm39)		probably null	Het
Slc25a27	A	G	17: 43,964,315 (GRCm39)	I185T	probably benign	Het
Slc41a3	A	C	6: 90,610,677 (GRCm39)	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,291,598 (GRCm39)	F227V	probably damaging	Het
Smg1	T	C	7: 117,756,142 (GRCm39)		probably benign	Het
St6galnac1	A	T	11: 116,656,689 (GRCm39)	D483E	probably damaging	Het
Tes	A	G	6: 17,097,441 (GRCm39)	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471 (GRCm39)	D290Y	probably damaging	Het
Tifab	T	A	13: 56,324,164 (GRCm39)	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,848,196 (GRCm39)		probably null	Het
Tnfrsf21	T	A	17: 43,396,265 (GRCm39)	S516R	probably benign	Het
Ttn	T	C	2: 76,606,389 (GRCm39)	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747 (GRCm39)	S3692T	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfp113	T	C	5: 138,149,459 (GRCm39)		probably benign	Het
Zfp26	T	C	9: 20,348,921 (GRCm39)	T548A	probably benign	Het
Zfp870	C	T	17: 33,102,990 (GRCm39)	G114D	probably damaging	Het

Other mutations in Bub3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Bub3	APN	7	131,170,362 (GRCm39)	missense	probably benign	0.34
R0294:Bub3	UTSW	7	131,169,953 (GRCm39)	missense	possibly damaging	0.83
R2679:Bub3	UTSW	7	131,170,454 (GRCm39)	splice site	probably null
R2847:Bub3	UTSW	7	131,172,613 (GRCm39)	missense	possibly damaging	0.79
R4392:Bub3	UTSW	7	131,168,064 (GRCm39)	missense	probably benign	0.01
R4856:Bub3	UTSW	7	131,163,297 (GRCm39)	missense	probably damaging	1.00
R4992:Bub3	UTSW	7	131,162,535 (GRCm39)	missense	probably damaging	1.00
R5364:Bub3	UTSW	7	131,162,467 (GRCm39)	missense	possibly damaging	0.93
R7536:Bub3	UTSW	7	131,170,432 (GRCm39)	missense	probably damaging	1.00
R9599:Bub3	UTSW	7	131,170,428 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCTGGCATCAAGCCTACTACAATGG -3'
(R):5'- AGTGCTCAGAAGGGGCTTTACTGC -3'

Sequencing Primer
(F):5'- cccagaggcagaggcag -3'
(R):5'- GGGCTTTACTGCAAAATTCAGG -3'

Posted On

2014-04-24