Mutagenetix > Incidental Mutations

Incidental Mutation 'R1613:Bub1b'

176913

Institutional Source

Beutler Lab

Gene Symbol

Bub1b

Ensembl Gene

ENSMUSG00000040084

Gene Name

BUB1B, mitotic checkpoint serine/threonine kinase

Synonyms

BUBR1

MMRRC Submission

039650-MU

Accession Numbers

NM_009773; MGI: 1333889

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1613 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

118598211-118641591 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 118639741 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037126 (fasta)

Gene Model

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

Predicted Effect

probably null
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: ENSMUST00000126013

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

82% (69/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Aldh3a1	A	T	11: 61,214,551	D161V	probably damaging	Het
Aloxe3	A	G	11: 69,130,046	D199G	possibly damaging	Het
Amfr	T	A	8: 93,999,226	M176L	probably benign	Het
Amigo1	A	T	3: 108,188,220	E345V	probably benign	Het
Atp13a3	T	C	16: 30,332,300	Y1064C	probably damaging	Het
AU019823	T	C	9: 50,607,805	K169R	probably damaging	Het
Brd7	A	T	8: 88,346,950	C271S	probably benign	Het
Ccdc146	T	A	5: 21,294,524	I887F	probably damaging	Het
Ceacam14	T	C	7: 17,814,048		probably benign	Het
Cntn1	T	A	15: 92,245,990	V278E	possibly damaging	Het
Col6a6	A	C	9: 105,732,211		probably null	Het
Cspp1	C	T	1: 10,133,241	R1016C	probably damaging	Het
Cyp2c39	A	G	19: 39,539,011	Y267C	probably damaging	Het
Cyp2c67	C	T	19: 39,626,199	V295I	probably benign	Het
Cyp2d40	T	C	15: 82,761,439	T122A	unknown	Het
Dmxl2	A	G	9: 54,382,027	I2541T	probably benign	Het
Eif3e	G	A	15: 43,250,224	A438V	possibly damaging	Het
Fam178b	C	A	1: 36,600,192	W342L	probably benign	Het
Fam45a	T	A	19: 60,822,325	V171D	possibly damaging	Het
Fam78a	G	T	2: 32,069,569	N176K	probably damaging	Het
Ghrhr	A	T	6: 55,379,697	K93M	probably damaging	Het
Gm1527	T	A	3: 28,898,853		probably null	Het
Gm1553	G	A	10: 82,492,596		probably benign	Het
Gm5885	G	A	6: 133,531,242		noncoding transcript	Het
Gm8674	G	A	13: 49,902,438		noncoding transcript	Het
Hoxc6	C	T	15: 103,009,585		probably benign	Het
Ino80	T	C	2: 119,392,867	T1189A	probably damaging	Het
Iqgap1	T	C	7: 80,768,457	E55G	probably damaging	Het
Kcnh2	G	A	5: 24,322,762		probably benign	Het
Lama1	G	A	17: 67,807,923	G2356S	probably benign	Het
Mdfic	T	A	6: 15,799,590		probably null	Het
Me3	T	C	7: 89,786,420		probably benign	Het
Mmadhc	T	C	2: 50,280,326	D258G	probably damaging	Het
Nfe2	T	C	15: 103,249,129	D145G	probably damaging	Het
Olfr1039	A	T	2: 86,131,063	L200Q	probably damaging	Het
Olfr1200	T	C	2: 88,767,805	N170S	probably damaging	Het
Olfr1377	T	A	11: 50,985,218	N172K	probably damaging	Het
Olfr1391	A	G	11: 49,327,693	Y94C	probably damaging	Het
Olfr1404	C	T	1: 173,215,867	T72I	probably benign	Het
Olfr352	A	C	2: 36,870,393	I276L	possibly damaging	Het
Olfr728	A	C	14: 50,140,294	L115R	probably damaging	Het
P4ha3	A	T	7: 100,313,250	D405V	possibly damaging	Het
Palmd	T	C	3: 116,923,504	D448G	probably damaging	Het
Pclo	T	C	5: 14,679,132		probably benign	Het
Pcsk6	A	G	7: 65,910,311		probably benign	Het
Pidd1	T	C	7: 141,440,777	E469G	probably damaging	Het
Ptpn13	A	G	5: 103,536,871	D875G	possibly damaging	Het
Rasgrf2	A	G	13: 91,902,621	L886P	probably damaging	Het
Scrib	G	A	15: 76,048,542	R1454C	probably damaging	Het
Slc24a1	A	G	9: 64,948,696	S310P	unknown	Het
Slc44a5	A	G	3: 154,257,714		probably null	Het
Snx4	T	G	16: 33,286,046	M283R	probably damaging	Het
Snx7	A	T	3: 117,829,573		probably benign	Het
Stk19	A	T	17: 34,824,598	L212H	probably damaging	Het
Sult2a4	T	C	7: 13,989,495	K32E	probably damaging	Het
Tfrc	T	A	16: 32,623,375	Y473N	probably damaging	Het
Tlr2	C	G	3: 83,837,353	L474F	probably damaging	Het
Tnfrsf4	T	A	4: 156,016,162	F213I	probably benign	Het
Trim9	A	T	12: 70,248,395	I651N	probably damaging	Het
Vmn1r84	T	A	7: 12,362,533	I78L	possibly damaging	Het
Vmn2r77	T	C	7: 86,811,148	Y561H	probably damaging	Het
Vmn2r95	A	G	17: 18,440,639		probably benign	Het
Zfp11	T	C	5: 129,658,367	N10S	probably benign	Het
Zfp81	A	T	17: 33,334,783	H352Q	probably damaging	Het
Zscan5b	T	A	7: 6,230,375	L66Q	probably 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
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
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
R7824:Bub1b	UTSW	2	118626967	splice site	probably null
R8129:Bub1b	UTSW	2	118638494	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ATGGAAGCAGAGGCCACTTTACAC -3'
(R):5'- TGACAAATTCCCAAGCAGACCTGAG -3'

Sequencing Primer
(F):5'- GCAGAGGCCACTTTACACTTTAG -3'
(R):5'- CCCTAAAGTCTGAGCAGGTCTATG -3'

Posted On

2014-04-24