Mutagenetix > Incidental Mutations

Incidental Mutation 'R2137:Bub1b'

235859

Institutional Source

Beutler Lab

Gene Symbol

Bub1b

Ensembl Gene

ENSMUSG00000040084

Gene Name

BUB1B, mitotic checkpoint serine/threonine kinase

Synonyms

BUBR1

MMRRC Submission

040140-MU

Accession Numbers

NM_009773; MGI: 1333889

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118598211-118641591 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 118636718 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 841 (E841*)

Ref Sequence

ENSEMBL: ENSMUSP00000037126 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000038341
AA Change: E841*

SMART Domains

Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: E841*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,646,309	T88I	probably damaging	Het
Atm	A	T	9: 53,453,375	V49D	probably damaging	Het
Ccdc129	A	G	6: 55,889,189	Q189R	probably damaging	Het
Cdh22	G	A	2: 165,116,394		probably benign	Het
Cdh7	A	T	1: 110,100,106	N527I	probably damaging	Het
Cog1	T	C	11: 113,659,301	L262P	probably damaging	Het
Col22a1	T	C	15: 72,006,948	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,433,749	S890P	probably benign	Het
Cubn	T	C	2: 13,336,167	I2248V	probably benign	Het
Evpl	T	C	11: 116,221,839	E1675G	probably damaging	Het
Faiml	G	A	9: 99,232,492	P115S	probably benign	Het
Fgg	A	T	3: 83,008,438	D62V	possibly damaging	Het
Gak	C	T	5: 108,606,877		probably null	Het
Galntl6	C	T	8: 58,535,905		probably null	Het
Glyr1	T	C	16: 5,018,482	Y501C	probably benign	Het
Gm9847	G	T	12: 14,495,081		noncoding transcript	Het
Gria4	T	G	9: 4,427,026		probably benign	Het
Il1f8	A	G	2: 24,154,660	N24S	probably benign	Het
Il6st	C	A	13: 112,502,858	H606N	possibly damaging	Het
Kctd10	A	G	5: 114,367,328	F202L	probably damaging	Het
Kif17	T	A	4: 138,262,667	D55E	probably damaging	Het
Klf1	C	T	8: 84,903,146	A200V	possibly damaging	Het
Klhl32	A	T	4: 24,629,275	Y497*	probably null	Het
Kng2	G	T	16: 22,997,326		probably benign	Het
Lats1	T	C	10: 7,701,847	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,444,958	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,997,331	V332D	possibly damaging	Het
Mss51	T	C	14: 20,487,523	I47V	probably benign	Het
Myoz2	G	A	3: 123,034,212	T19M	probably benign	Het
Nampt	T	A	12: 32,830,310	N67K	probably benign	Het
Ncor2	A	T	5: 125,030,712	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,563,738	Q7R	probably damaging	Het
Olfr1475	A	G	19: 13,479,809	Y130H	probably damaging	Het
Olfr1480	T	A	19: 13,530,438	I255N	probably damaging	Het
Olfr870	T	A	9: 20,171,167	I135F	probably damaging	Het
Pgm1	A	T	5: 64,116,366	M565L	probably benign	Het
Phactr1	T	G	13: 43,135,175	F639V	possibly damaging	Het
Plod3	C	A	5: 136,988,717	R165S	probably damaging	Het
Polr2b	T	A	5: 77,320,346	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,162,051	G52S	probably damaging	Het
Rfc1	A	G	5: 65,311,039		probably null	Het
Rheb	A	G	5: 24,807,603		probably null	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Ripor2	G	A	13: 24,721,834		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scg3	A	T	9: 75,676,810	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,007,580	L172F	probably damaging	Het
Slc35c2	A	G	2: 165,281,379	Y113H	probably damaging	Het
Slc47a1	T	A	11: 61,344,492	D505V	probably benign	Het
Snap29	C	A	16: 17,428,249	D244E	possibly damaging	Het
Taar1	T	C	10: 23,921,270	F289L	probably benign	Het
Thbs2	T	A	17: 14,673,306	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,499,963	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,670,802		probably null	Het
Trak1	T	A	9: 121,472,962	M928K	possibly damaging	Het
Tuba3b	A	G	6: 145,618,833	I110V	probably benign	Het
Tyk2	A	G	9: 21,110,985		probably benign	Het
Ugt1a9	T	A	1: 88,071,037	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,003,544	I68K	possibly damaging	Het
Wfs1	T	C	5: 36,967,501	E682G	probably damaging	Het
Zfp213	T	C	17: 23,559,507		probably null	Het
Zfp809	T	C	9: 22,235,138	V41A	probably benign	Het
Zfp831	A	G	2: 174,705,746	K1574R	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
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
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'- TTGTAGCCTTCAGGAGACCTC -3'
(R):5'- TTTACACATGCAAGGCAAGC -3'

Sequencing Primer
(F):5'- CTTCAGGAGACCTCGGTGTTCAG -3'
(R):5'- ATTCCAGTTCCAGAGGTGC -3'

Posted On

2014-10-01