Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03184:Bub1b'

412409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bub1b

Ensembl Gene

ENSMUSG00000040084

Gene Name

BUB1B, mitotic checkpoint serine/threonine kinase

Synonyms

BUBR1

Accession Numbers

NM_009773; MGI: 1333889

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

118598211-118641591 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 118609777 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037126 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038341

SMART Domains

Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084

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: ENSMUST00000127356

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,323,451	Y992H	possibly damaging	Het
Adcy7	T	A	8: 88,308,643	D58E	probably benign	Het
Aff2	G	A	X: 69,767,234	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,647,777	L1961M	probably damaging	Het
BC024978	A	G	7: 27,197,007		probably benign	Het
Brms1l	T	C	12: 55,868,277	*324Q	probably null	Het
Cacna1b	A	G	2: 24,658,489		probably null	Het
Clrn1	T	A	3: 58,846,224	T239S	probably benign	Het
Clta	T	C	4: 44,025,514	Y145H	probably benign	Het
Coro6	T	C	11: 77,463,953	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,459,019	D314G	probably damaging	Het
Fn1	T	C	1: 71,609,497	N1418D	probably benign	Het
Fshr	A	C	17: 89,046,640	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,105,412	Q152R	probably damaging	Het
Gcnt2	A	G	13: 40,888,184	N273S	probably benign	Het
Gm11437	A	T	11: 84,156,264		probably benign	Het
Gm4559	A	G	7: 142,274,309	S19P	unknown	Het
Igsf8	T	G	1: 172,318,632	I462R	probably damaging	Het
Kirrel3	T	C	9: 35,007,756	F243S	probably damaging	Het
Krt80	C	T	15: 101,352,254	V37M	probably damaging	Het
Lama4	T	C	10: 39,078,843	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,292,529		probably benign	Het
Mtcl1	T	C	17: 66,354,214	N923S	probably benign	Het
Nectin2	G	A	7: 19,738,306	P53S	possibly damaging	Het
Nup98	G	A	7: 102,183,545	T335I	probably damaging	Het
Olfr1247	T	C	2: 89,609,568	D178G	probably damaging	Het
Olfr1391	C	A	11: 49,327,741	T110K	probably damaging	Het
Olfr1507	A	G	14: 52,490,923	S14P	probably benign	Het
Olfr643	T	A	7: 104,058,847	I252F	probably damaging	Het
Olfr822	T	C	10: 130,074,758	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,449,032	E397G	probably benign	Het
Pcgf5	T	G	19: 36,434,676		probably benign	Het
Pclo	C	T	5: 14,714,443	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,454,511	F226L	probably benign	Het
Pik3ca	T	A	3: 32,439,886	S332R	probably benign	Het
Plek	A	T	11: 16,981,887	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241	F333L	probably damaging	Het
Polk	T	C	13: 96,483,983	T570A	probably benign	Het
Rpgrip1l	G	A	8: 91,300,809	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,524,877	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,547,640	S197R	probably damaging	Het
Smg1	T	A	7: 118,180,380	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,274,668	D678G	probably benign	Het
Sorcs2	A	G	5: 36,031,212	S851P	probably benign	Het
Srcap	A	G	7: 127,530,502		probably benign	Het
Tbck	T	C	3: 132,736,103	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,118,886	S219P	probably damaging	Het
Trim9	T	C	12: 70,251,221	D570G	probably damaging	Het
Usp25	A	G	16: 77,081,653	Y655C	probably damaging	Het
Utrn	T	A	10: 12,710,166	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,527,872	I100F	probably benign	Het
Vps13a	A	T	19: 16,654,370	S2634T	probably benign	Het
Zfp472	T	A	17: 32,977,416	L155*	probably null	Het
Zfp808	A	G	13: 62,169,567	I43M	possibly damaging	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
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
R5229:Bub1b	UTSW	2	118629989	missense	probably damaging	1.00
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

Posted On

2016-08-02