Mutagenetix > Incidental Mutations

Incidental Mutation 'R5229:Bub1b'

403636

Institutional Source

Beutler Lab

Gene Symbol

Bub1b

Ensembl Gene

ENSMUSG00000040084

Gene Name

BUB1B, mitotic checkpoint serine/threonine kinase

Synonyms

BUBR1

MMRRC Submission

042802-MU

Accession Numbers

NM_009773; MGI: 1333889

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118598211-118641591 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118629989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 600 (D600E)

Ref Sequence

ENSEMBL: ENSMUSP00000037126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038341]

AlphaFold

Q9Z1S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038341
AA Change: D600E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: D600E

Domain	Start	End	E-Value	Type
PDB:4GGD\|D	14	35	6e-6	PDB
Mad3_BUB1_I	49	173	1.83e-68	SMART
low complexity region	198	214	N/A	INTRINSIC
low complexity region	382	395	N/A	INTRINSIC
coiled coil region	418	457	N/A	INTRINSIC
low complexity region	671	686	N/A	INTRINSIC
low complexity region	717	726	N/A	INTRINSIC
Pfam:Pkinase	806	942	4.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130512

Meta Mutation Damage Score

0.2066

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging. [provided by MGI curators]

Allele List at MGI

All alleles(22) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(18)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	C	1: 16,080,959		probably benign	Het
4930562C15Rik	A	G	16: 4,850,051	I435M	possibly damaging	Het
8430408G22Rik	T	C	6: 116,652,031	S112P	possibly damaging	Het
Adcy5	A	G	16: 35,269,070	I546V	probably damaging	Het
Apob	A	G	12: 7,977,806	T10A	probably benign	Het
Brwd1	C	A	16: 96,002,209	D2254Y	possibly damaging	Het
C87499	T	C	4: 88,630,135	D11G	possibly damaging	Het
Cnga1	A	G	5: 72,609,500	S199P	probably damaging	Het
Cyp3a11	G	T	5: 145,855,135	L483I	probably benign	Het
Dpysl3	C	A	18: 43,332,951	G457V	probably damaging	Het
Eif4g3	C	A	4: 138,096,794	P36T	possibly damaging	Het
Epb41	C	A	4: 131,978,935	G415C	probably damaging	Het
Erap1	G	A	13: 74,660,375	V69M	possibly damaging	Het
F2	A	T	2: 91,630,241	Y301*	probably null	Het
F2rl2	A	T	13: 95,700,687	N80I	possibly damaging	Het
Gm15446	T	G	5: 109,943,170	H429Q	probably damaging	Het
Gm8773	A	T	5: 5,575,565	Y87F	possibly damaging	Het
Gpat3	G	A	5: 100,883,424	G148D	probably damaging	Het
Gpr26	A	T	7: 131,984,247	R315S	probably damaging	Het
Hdac9	A	C	12: 34,437,164	H100Q	probably damaging	Het
Heatr5a	A	T	12: 51,947,978	V457D	probably benign	Het
Igkv10-96	A	G	6: 68,632,239	M24T	possibly damaging	Het
Igkv2-95-2	A	G	6: 68,648,111		noncoding transcript	Het
Kdm4a	G	A	4: 118,146,605	S758F	probably damaging	Het
Lrg1	A	G	17: 56,120,154	W273R	probably damaging	Het
Man2a1	A	T	17: 64,710,734	Q658H	probably benign	Het
Mapkapk5	T	C	5: 121,533,391		probably null	Het
Mcm6	T	C	1: 128,333,584	D761G	possibly damaging	Het
Myh8	A	T	11: 67,284,484	Y286F	probably damaging	Het
Nbn	C	T	4: 15,963,893	T98I	probably damaging	Het
Nrd1	T	C	4: 109,049,108	S685P	probably damaging	Het
Nudcd3	A	G	11: 6,193,238	V80A	probably benign	Het
Olfr121	A	G	17: 37,752,301	H149R	probably benign	Het
Olfr474	A	G	7: 107,955,169	H176R	probably damaging	Het
Pdcd6ip	A	T	9: 113,678,333	M390K	probably damaging	Het
Pon1	C	T	6: 5,177,295	V205I	possibly damaging	Het
Ppp4r2	C	A	6: 100,865,215	H212Q	probably benign	Het
Prl2c5	G	A	13: 13,185,856	C33Y	probably damaging	Het
Rbak	A	G	5: 143,174,162	F379L	probably damaging	Het
Rcc2	G	A	4: 140,717,029	D344N	probably damaging	Het
Rgs3	T	C	4: 62,702,187	L550P	probably damaging	Het
Rnasek	A	T	11: 70,239,660	M25K	probably damaging	Het
Scgb1b24	A	T	7: 33,744,095	T60S	possibly damaging	Het
Scn5a	A	G	9: 119,535,976	F392S	probably damaging	Het
Scpep1	A	T	11: 88,937,045	V209E	probably damaging	Het
Slc35g1	A	G	19: 38,402,632		probably null	Het
Sorbs1	A	G	19: 40,340,707	I554T	probably damaging	Het
Spats1	A	G	17: 45,466,133		probably benign	Het
Tdp1	A	G	12: 99,893,660	Q202R	probably damaging	Het
Trav6-5	T	G	14: 53,491,588	S102A	probably damaging	Het
Tspan2	T	C	3: 102,768,899	M208T	probably damaging	Het
Ube4b	A	G	4: 149,387,178	S84P	probably damaging	Het
Vmn1r237	C	A	17: 21,314,371	Q119K	probably benign	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Zfp65	A	T	13: 67,708,810	S117T	probably benign	Het

Other mutations in Bub1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Bub1b	APN	2	118630138	missense	probably benign
IGL01319:Bub1b	APN	2	118614994	missense	possibly damaging	0.49
IGL01744:Bub1b	APN	2	118636749	missense	probably damaging	0.99
IGL03184:Bub1b	APN	2	118609777	splice site	probably benign
P0035:Bub1b	UTSW	2	118622185	missense	probably damaging	1.00
R0315:Bub1b	UTSW	2	118626976	splice site	probably benign
R0322:Bub1b	UTSW	2	118639618	splice site	probably benign
R0378:Bub1b	UTSW	2	118641123	missense	probably benign	0.01
R0457:Bub1b	UTSW	2	118609859	missense	probably damaging	1.00
R0845:Bub1b	UTSW	2	118609976	missense	probably damaging	1.00
R0960:Bub1b	UTSW	2	118606680	missense	probably benign	0.03
R1071:Bub1b	UTSW	2	118632447	frame shift	probably null
R1129:Bub1b	UTSW	2	118615006	missense	probably damaging	1.00
R1138:Bub1b	UTSW	2	118623089	missense	probably benign	0.01
R1171:Bub1b	UTSW	2	118606686	missense	probably benign	0.31
R1613:Bub1b	UTSW	2	118639741	critical splice donor site	probably null
R1667:Bub1b	UTSW	2	118641189	missense	probably benign	0.00
R1812:Bub1b	UTSW	2	118632421	missense	probably benign	0.00
R1828:Bub1b	UTSW	2	118638439	missense	probably benign	0.00
R2085:Bub1b	UTSW	2	118622195	missense	possibly damaging	0.88
R2137:Bub1b	UTSW	2	118636718	nonsense	probably null
R3749:Bub1b	UTSW	2	118615455	missense	possibly damaging	0.63
R3750:Bub1b	UTSW	2	118615455	missense	possibly damaging	0.63
R4211:Bub1b	UTSW	2	118630978	missense	possibly damaging	0.78
R4579:Bub1b	UTSW	2	118623176	nonsense	probably null
R4993:Bub1b	UTSW	2	118636770	missense	possibly damaging	0.63
R5144:Bub1b	UTSW	2	118615499	missense	possibly damaging	0.92
R5596:Bub1b	UTSW	2	118630982	missense	probably damaging	1.00
R5656:Bub1b	UTSW	2	118605431	missense	probably damaging	1.00
R5785:Bub1b	UTSW	2	118609844	missense	probably damaging	0.98
R5883:Bub1b	UTSW	2	118609882	missense	probably damaging	1.00
R6128:Bub1b	UTSW	2	118617812	missense	probably benign
R6187:Bub1b	UTSW	2	118631000	missense	probably damaging	1.00
R6333:Bub1b	UTSW	2	118598463	critical splice donor site	probably null
R6985:Bub1b	UTSW	2	118606614	missense	probably damaging	1.00
R6988:Bub1b	UTSW	2	118636830	missense	probably damaging	0.96
R7161:Bub1b	UTSW	2	118626053	missense	probably damaging	1.00
R7341:Bub1b	UTSW	2	118636786	missense	possibly damaging	0.95
R7575:Bub1b	UTSW	2	118641158	missense	possibly damaging	0.51
R7824:Bub1b	UTSW	2	118626967	splice site	probably null
R8129:Bub1b	UTSW	2	118638494	missense	probably benign	0.06
R8702:Bub1b	UTSW	2	118638494	missense	probably benign	0.06
R8787:Bub1b	UTSW	2	118631824	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAATGTGTGCGTGCGTGC -3'
(R):5'- AGTAAGAGCCGATACCTGGC -3'

Sequencing Primer
(F):5'- CATATGTGTGTGTTGTACCGC -3'
(R):5'- GATACCTGGCCACTGCAATTG -3'

Posted On

2016-07-22