Mutagenetix > Incidental Mutation

Incidental Mutation 'R6985:Bub1b'

542889

Institutional Source

Beutler Lab

Gene Symbol

Bub1b

Ensembl Gene

ENSMUSG00000040084

Gene Name

BUB1B, mitotic checkpoint serine/threonine kinase

Synonyms

BUBR1

MMRRC Submission

045092-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118428692-118472072 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118437095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 98 (R98G)

Ref Sequence

ENSEMBL: ENSMUSP00000037126 (fasta)

Gene Model

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

AlphaFold

Q9Z1S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038341
AA Change: R98G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: R98G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin1	A	G	4: 123,630,649 (GRCm39)	*192R	probably null	Het
Ankar	A	C	1: 72,697,641 (GRCm39)	L836R	probably damaging	Het
Anxa7	G	T	14: 20,521,636 (GRCm39)	A20E	unknown	Het
Arhgap1	T	A	2: 91,498,543 (GRCm39)	Y147N	probably damaging	Het
Arid2	T	C	15: 96,268,029 (GRCm39)	V714A	probably benign	Het
Arrdc3	T	C	13: 81,031,776 (GRCm39)	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,799,830 (GRCm39)	D202G	possibly damaging	Het
Capn10	T	C	1: 92,871,146 (GRCm39)	Y319H	probably damaging	Het
Cep95	T	C	11: 106,709,529 (GRCm39)	F115S	probably damaging	Het
Chsy3	A	T	18: 59,309,560 (GRCm39)		probably null	Het
Cnot1	T	C	8: 96,460,757 (GRCm39)	N1755S	probably benign	Het
Cntn4	A	G	6: 106,656,378 (GRCm39)	N893S	probably benign	Het
Ctsh	G	A	9: 89,936,657 (GRCm39)	A19T	possibly damaging	Het
Cttn	C	A	7: 144,006,324 (GRCm39)	E214*	probably null	Het
Des	A	G	1: 75,343,431 (GRCm39)	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,615,679 (GRCm39)	V109A	probably benign	Het
Dock1	A	G	7: 134,765,132 (GRCm39)	E1708G	possibly damaging	Het
Dst	T	C	1: 34,229,934 (GRCm39)	I2184T	probably benign	Het
Enc1	C	T	13: 97,381,628 (GRCm39)	T46I	possibly damaging	Het
Etaa1	A	G	11: 17,896,108 (GRCm39)	S670P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fbn2	A	T	18: 58,201,460 (GRCm39)	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,296,957 (GRCm39)	V302E	probably benign	Het
Fgfr3	G	C	5: 33,892,785 (GRCm39)	E744Q	probably null	Het
Gmps	T	A	3: 63,922,960 (GRCm39)	I641N	probably damaging	Het
Gpc2	T	A	5: 138,276,670 (GRCm39)	Y152F	probably damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Herc2	A	G	7: 55,782,228 (GRCm39)	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,860,252 (GRCm39)	T14A	probably benign	Het
Insr	T	A	8: 3,211,372 (GRCm39)	M1156L	possibly damaging	Het
Kirrel2	C	A	7: 30,154,731 (GRCm39)	G127C	probably damaging	Het
Krt10	T	C	11: 99,276,456 (GRCm39)	N65S	possibly damaging	Het
Lrig3	A	G	10: 125,850,738 (GRCm39)	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,022,274 (GRCm39)	N306H	probably benign	Het
Map4k3	A	G	17: 80,944,161 (GRCm39)	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,322,122 (GRCm39)	H13Q	probably damaging	Het
Mki67	A	G	7: 135,315,594 (GRCm39)	L60S	probably damaging	Het
Muc4	A	T	16: 32,570,817 (GRCm39)	M626L	probably benign	Het
Mycbp2	C	T	14: 103,444,117 (GRCm39)	V1914I	possibly damaging	Het
Myo5b	T	C	18: 74,786,432 (GRCm39)	F442L	possibly damaging	Het
Naa35	T	A	13: 59,775,757 (GRCm39)	M545K	probably benign	Het
Nrxn2	T	A	19: 6,531,275 (GRCm39)	V645E	probably damaging	Het
Or52z14	A	G	7: 103,252,875 (GRCm39)	T5A	probably benign	Het
Or5af2	T	C	11: 58,707,939 (GRCm39)	F35S	probably damaging	Het
Otx1	A	T	11: 21,946,615 (GRCm39)	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,630,211 (GRCm39)	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,017,223 (GRCm39)	T178I	probably damaging	Het
Plxna4	A	G	6: 32,214,643 (GRCm39)	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345 (GRCm39)	D354A	probably benign	Het
Prtg	T	G	9: 72,758,783 (GRCm39)	I379S	probably damaging	Het
Rbm17	T	G	2: 11,595,504 (GRCm39)	M234L	probably benign	Het
Rex1bd	T	C	8: 70,958,555 (GRCm39)	S71G	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Shank1	A	G	7: 43,994,337 (GRCm39)	I833V	unknown	Het
Slc35f1	C	A	10: 52,898,007 (GRCm39)	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,879,429 (GRCm39)	I36F	probably benign	Het
Sstr4	T	A	2: 148,238,169 (GRCm39)	M260K	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trat1	A	G	16: 48,574,634 (GRCm39)	Y55H	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Vcan	T	C	13: 89,828,075 (GRCm39)	T3124A	probably damaging	Het
Wdfy4	A	T	14: 32,821,074 (GRCm39)	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,778,530 (GRCm39)	D7G	probably damaging	Het

Other mutations in Bub1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Bub1b	APN	2	118,460,619 (GRCm39)	missense	probably benign
IGL01319:Bub1b	APN	2	118,445,475 (GRCm39)	missense	possibly damaging	0.49
IGL01744:Bub1b	APN	2	118,467,230 (GRCm39)	missense	probably damaging	0.99
IGL03184:Bub1b	APN	2	118,440,258 (GRCm39)	splice site	probably benign
P0035:Bub1b	UTSW	2	118,452,666 (GRCm39)	missense	probably damaging	1.00
R0315:Bub1b	UTSW	2	118,457,457 (GRCm39)	splice site	probably benign
R0322:Bub1b	UTSW	2	118,470,099 (GRCm39)	splice site	probably benign
R0378:Bub1b	UTSW	2	118,471,604 (GRCm39)	missense	probably benign	0.01
R0457:Bub1b	UTSW	2	118,440,340 (GRCm39)	missense	probably damaging	1.00
R0845:Bub1b	UTSW	2	118,440,457 (GRCm39)	missense	probably damaging	1.00
R0960:Bub1b	UTSW	2	118,437,161 (GRCm39)	missense	probably benign	0.03
R1071:Bub1b	UTSW	2	118,462,928 (GRCm39)	frame shift	probably null
R1129:Bub1b	UTSW	2	118,445,487 (GRCm39)	missense	probably damaging	1.00
R1138:Bub1b	UTSW	2	118,453,570 (GRCm39)	missense	probably benign	0.01
R1171:Bub1b	UTSW	2	118,437,167 (GRCm39)	missense	probably benign	0.31
R1613:Bub1b	UTSW	2	118,470,222 (GRCm39)	critical splice donor site	probably null
R1667:Bub1b	UTSW	2	118,471,670 (GRCm39)	missense	probably benign	0.00
R1812:Bub1b	UTSW	2	118,462,902 (GRCm39)	missense	probably benign	0.00
R1828:Bub1b	UTSW	2	118,468,920 (GRCm39)	missense	probably benign	0.00
R2085:Bub1b	UTSW	2	118,452,676 (GRCm39)	missense	possibly damaging	0.88
R2137:Bub1b	UTSW	2	118,467,199 (GRCm39)	nonsense	probably null
R3749:Bub1b	UTSW	2	118,445,936 (GRCm39)	missense	possibly damaging	0.63
R3750:Bub1b	UTSW	2	118,445,936 (GRCm39)	missense	possibly damaging	0.63
R4211:Bub1b	UTSW	2	118,461,459 (GRCm39)	missense	possibly damaging	0.78
R4579:Bub1b	UTSW	2	118,453,657 (GRCm39)	nonsense	probably null
R4993:Bub1b	UTSW	2	118,467,251 (GRCm39)	missense	possibly damaging	0.63
R5144:Bub1b	UTSW	2	118,445,980 (GRCm39)	missense	possibly damaging	0.92
R5229:Bub1b	UTSW	2	118,460,470 (GRCm39)	missense	probably damaging	1.00
R5596:Bub1b	UTSW	2	118,461,463 (GRCm39)	missense	probably damaging	1.00
R5656:Bub1b	UTSW	2	118,435,912 (GRCm39)	missense	probably damaging	1.00
R5785:Bub1b	UTSW	2	118,440,325 (GRCm39)	missense	probably damaging	0.98
R5883:Bub1b	UTSW	2	118,440,363 (GRCm39)	missense	probably damaging	1.00
R6128:Bub1b	UTSW	2	118,448,293 (GRCm39)	missense	probably benign
R6187:Bub1b	UTSW	2	118,461,481 (GRCm39)	missense	probably damaging	1.00
R6333:Bub1b	UTSW	2	118,428,944 (GRCm39)	critical splice donor site	probably null
R6988:Bub1b	UTSW	2	118,467,311 (GRCm39)	missense	probably damaging	0.96
R7161:Bub1b	UTSW	2	118,456,534 (GRCm39)	missense	probably damaging	1.00
R7341:Bub1b	UTSW	2	118,467,267 (GRCm39)	missense	possibly damaging	0.95
R7575:Bub1b	UTSW	2	118,471,639 (GRCm39)	missense	possibly damaging	0.51
R7824:Bub1b	UTSW	2	118,457,448 (GRCm39)	splice site	probably null
R8129:Bub1b	UTSW	2	118,468,975 (GRCm39)	missense	probably benign	0.06
R8702:Bub1b	UTSW	2	118,468,975 (GRCm39)	missense	probably benign	0.06
R8787:Bub1b	UTSW	2	118,462,305 (GRCm39)	missense	probably damaging	1.00
R9569:Bub1b	UTSW	2	118,468,884 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGTACATGTTATTGAGAACTTCTAA -3'
(R):5'- AAGCAACTCAATAGATACAAAGACTT -3'

Sequencing Primer
(F):5'- TCTAGTGGCACTGCACAATG -3'
(R):5'- ATTCTGGTGACACTCACC -3'

Posted On

2018-11-28