Mutagenetix > Incidental Mutation

Incidental Mutation 'R7575:Bub1b'

586308

Institutional Source

Beutler Lab

Gene Symbol

Bub1b

Ensembl Gene

ENSMUSG00000040084

Gene Name

BUB1B, mitotic checkpoint serine/threonine kinase

Synonyms

BUBR1

MMRRC Submission

045632-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118428692-118472072 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118471639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1000 (S1000T)

Ref Sequence

ENSEMBL: ENSMUSP00000037126 (fasta)

Gene Model

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

AlphaFold

Q9Z1S0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038341
AA Change: S1000T

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: S1000T

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: 99.7%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,384,589 (GRCm39)	V459I	probably benign	Het
4921539E11Rik	T	C	4: 103,088,192 (GRCm39)	D439G	probably damaging	Het
Adam18	T	C	8: 25,115,873 (GRCm39)	N607S	possibly damaging	Het
Adamtsl3	A	T	7: 82,223,756 (GRCm39)	N1179I	possibly damaging	Het
Adarb1	A	G	10: 77,139,129 (GRCm39)	F552S	probably damaging	Het
Ago1	T	C	4: 126,347,701 (GRCm39)	E394G	probably benign	Het
Alb	G	A	5: 90,613,788 (GRCm39)	C224Y	probably damaging	Het
Alms1	T	A	6: 85,599,141 (GRCm39)	H1322Q	possibly damaging	Het
Arhgef18	T	G	8: 3,501,635 (GRCm39)	V643G	probably damaging	Het
Asah2	T	C	19: 31,994,103 (GRCm39)	Q414R	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Bbc3	G	A	7: 16,046,292 (GRCm39)	R76H	possibly damaging	Het
Bud23	A	T	5: 135,089,982 (GRCm39)	Y70*	probably null	Het
C1d	A	G	11: 17,212,694 (GRCm39)	E13G	probably damaging	Het
Camk1	T	A	6: 113,315,325 (GRCm39)	I158F	probably damaging	Het
Ccr2	A	C	9: 123,905,843 (GRCm39)	D41A	probably benign	Het
Cdh18	G	T	15: 23,400,683 (GRCm39)	E348*	probably null	Het
Col6a3	A	G	1: 90,738,321 (GRCm39)	L1066P	possibly damaging	Het
Cyp11b1	T	A	15: 74,711,162 (GRCm39)	D172V	probably benign	Het
Cyp2j8	A	G	4: 96,358,785 (GRCm39)	I378T	possibly damaging	Het
Cys1	T	A	12: 24,718,647 (GRCm39)	K69*	probably null	Het
Dip2c	A	G	13: 9,678,048 (GRCm39)	K1165E	probably damaging	Het
Drd3	A	T	16: 43,637,496 (GRCm39)	I232F	probably benign	Het
Dusp7	T	C	9: 106,250,876 (GRCm39)	C334R	probably damaging	Het
Eppk1	A	G	15: 75,995,442 (GRCm39)	S480P	not run	Het
Erc1	G	T	6: 119,801,721 (GRCm39)	P99T	possibly damaging	Het
Fam170b	C	T	14: 32,558,155 (GRCm39)	P330L	unknown	Het
Fasn	G	T	11: 120,703,513 (GRCm39)	T1573K	possibly damaging	Het
Fras1	A	T	5: 96,691,173 (GRCm39)	T130S	probably benign	Het
Fzd4	A	G	7: 89,056,918 (GRCm39)	I322V	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdpd4	A	T	7: 97,647,448 (GRCm39)	H365L	probably benign	Het
Gfy	A	G	7: 44,827,524 (GRCm39)	S191P	probably benign	Het
Ghr	A	T	15: 3,349,994 (GRCm39)	S395T	probably damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Htt	A	G	5: 35,062,987 (GRCm39)	D2873G	probably damaging	Het
Idua	A	T	5: 108,829,565 (GRCm39)	D476V	probably damaging	Het
Inppl1	G	A	7: 101,477,689 (GRCm39)	R683W	probably damaging	Het
Ipp	T	C	4: 116,389,841 (GRCm39)	S466P	probably benign	Het
Iqgap2	A	G	13: 95,798,131 (GRCm39)	V1058A	probably damaging	Het
Jmy	A	T	13: 93,601,103 (GRCm39)	Y434*	probably null	Het
Kmt2d	CTGCTGCTG	CTGCTGCTGATGCTGCTG	15: 98,747,492 (GRCm39)		probably benign	Het
Mogs	T	G	6: 83,092,816 (GRCm39)	S85R	probably damaging	Het
Mroh2b	A	T	15: 4,964,087 (GRCm39)	D863V	probably damaging	Het
Mtmr10	A	T	7: 63,947,213 (GRCm39)	I43F	probably damaging	Het
Mtr	T	C	13: 12,213,963 (GRCm39)	D903G	probably benign	Het
Ncor1	A	G	11: 62,274,082 (GRCm39)	V186A	probably benign	Het
Notch3	C	T	17: 32,373,793 (GRCm39)	D472N	possibly damaging	Het
Or4k44	A	T	2: 111,368,597 (GRCm39)	F12L	probably damaging	Het
Or6c68	T	C	10: 129,157,728 (GRCm39)	F79L	probably damaging	Het
Or8j3c	A	G	2: 86,253,582 (GRCm39)	F146S	probably benign	Het
Or9i1	T	C	19: 13,839,381 (GRCm39)	S75P	probably damaging	Het
Oxr1	T	G	15: 41,686,758 (GRCm39)	L547V	possibly damaging	Het
Pappa2	A	T	1: 158,642,100 (GRCm39)	C1319S	probably damaging	Het
Papss1	A	C	3: 131,348,857 (GRCm39)	K623N	probably damaging	Het
Parp4	T	C	14: 56,875,375 (GRCm39)	F1198S	probably benign	Het
Pcare	T	A	17: 72,057,850 (GRCm39)	Q609L	probably damaging	Het
Pcnt	A	T	10: 76,225,086 (GRCm39)	V1806D	probably benign	Het
Pitx2	A	T	3: 129,009,375 (GRCm39)	H98L	probably damaging	Het
Polq	C	A	16: 36,911,496 (GRCm39)	D2410E	probably benign	Het
Prdm9	C	T	17: 15,764,890 (GRCm39)	C630Y	probably damaging	Het
Preb	A	T	5: 31,115,839 (GRCm39)	D201E	probably damaging	Het
Rasa3	A	T	8: 13,645,887 (GRCm39)	I151N	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,397 (GRCm39)	S147T	probably damaging	Het
Rev3l	A	G	10: 39,697,441 (GRCm39)	D646G	possibly damaging	Het
Sdc1	A	G	12: 8,840,619 (GRCm39)	E128G	probably damaging	Het
Slamf7	A	C	1: 171,466,762 (GRCm39)	C148G	probably damaging	Het
Slc19a2	T	C	1: 164,084,691 (GRCm39)	S194P	probably damaging	Het
Spata31	C	T	13: 65,070,726 (GRCm39)	P958L	unknown	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stradb	A	G	1: 59,027,739 (GRCm39)	I90V	probably benign	Het
Tas2r134	A	G	2: 51,518,166 (GRCm39)	D215G	probably damaging	Het
Tbc1d4	T	C	14: 101,685,025 (GRCm39)	K1209E	probably damaging	Het
Thbs1	A	G	2: 117,953,409 (GRCm39)	D942G	probably damaging	Het
Tmem107	C	T	11: 68,963,633 (GRCm39)	P139S	probably benign	Het
Tmem216	A	T	19: 10,529,266 (GRCm39)	M40K	probably benign	Het
Tpte	A	G	8: 22,845,498 (GRCm39)	Y516C	probably damaging	Het
Trim54	G	A	5: 31,291,431 (GRCm39)	G184D	possibly damaging	Het
Try5	A	T	6: 41,288,748 (GRCm39)	L157Q	probably benign	Het
Ubqlnl	G	A	7: 103,797,697 (GRCm39)	A600V	probably damaging	Het
Uhrf2	C	A	19: 30,048,768 (GRCm39)	P258Q	probably damaging	Het
Ush2a	A	T	1: 188,554,885 (GRCm39)	E3554D	possibly damaging	Het
Usp40	A	C	1: 87,877,682 (GRCm39)	L1158W	probably damaging	Het
Vmn1r121	T	A	7: 20,832,198 (GRCm39)	R81*	probably null	Het
Vmn1r203	C	A	13: 22,708,588 (GRCm39)	T123K	probably benign	Het
Vmn2r101	T	C	17: 19,831,654 (GRCm39)	V550A	probably benign	Het
Wdr49	A	T	3: 75,358,193 (GRCm39)	M184K	probably damaging	Het
Wipi2	A	G	5: 142,643,987 (GRCm39)	N123S	probably damaging	Het
Zbtb14	T	C	17: 69,694,442 (GRCm39)	F47L	probably damaging	Het
Zc3h7b	C	A	15: 81,662,086 (GRCm39)	S385*	probably null	Het
Zhx2	T	A	15: 57,686,658 (GRCm39)	F676I	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
R6985:Bub1b	UTSW	2	118,437,095 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCCTTCAAGAGTGTTTGAATG -3'
(R):5'- ATACCCATGGCTTAGGCAGG -3'

Sequencing Primer
(F):5'- CCTTCAAGAGTGTTTGAATGATCTCC -3'
(R):5'- CTTAGGCAGGGCTCTGGGAG -3'

Posted On

2019-10-24