Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Bub1b'

557557

Institutional Source

Beutler Lab

Gene Symbol

Bub1b

Ensembl Gene

ENSMUSG00000040084

Gene Name

BUB1B, mitotic checkpoint serine/threonine kinase

Synonyms

BUBR1

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7161 (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 118456534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 526 (E526G)

Ref Sequence

ENSEMBL: ENSMUSP00000037126 (fasta)

Gene Model

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

AlphaFold

Q9Z1S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038341
AA Change: E526G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: E526G

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,964,968 (GRCm39)	Q443L	probably benign	Het
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Afdn	T	A	17: 14,109,208 (GRCm39)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,155,535 (GRCm39)	T345S	possibly damaging	Het
Car13	A	G	3: 14,710,268 (GRCm39)	D70G	probably benign	Het
Castor2	C	A	5: 134,164,029 (GRCm39)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,500,996 (GRCm39)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccr10	A	G	11: 101,065,104 (GRCm39)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,400 (GRCm39)	V1005M	probably benign	Het
Chil6	A	G	3: 106,301,728 (GRCm39)	I124T	probably benign	Het
Coq8a	A	G	1: 179,997,906 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,476 (GRCm39)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,844,209 (GRCm39)	V76A	possibly damaging	Het
Disp1	A	G	1: 182,869,189 (GRCm39)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah9	T	A	11: 65,746,198 (GRCm39)	K3972*	probably null	Het
Dnai4	G	A	4: 102,953,813 (GRCm39)	P129S	probably benign	Het
Dusp7	T	A	9: 106,246,114 (GRCm39)	S40T	unknown	Het
Emg1	T	C	6: 124,682,712 (GRCm39)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,752,043 (GRCm39)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,055,048 (GRCm39)	D167A	probably damaging	Het
Fes	A	T	7: 80,030,609 (GRCm39)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,223,234 (GRCm39)	G190R	probably damaging	Het
Gdf15	T	G	8: 71,083,992 (GRCm39)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,314,579 (GRCm39)	V355F	probably damaging	Het
Herc4	T	A	10: 63,144,194 (GRCm39)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,242,030 (GRCm39)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Itpr1	C	T	6: 108,363,601 (GRCm39)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,103,677 (GRCm39)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,944,483 (GRCm39)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,755,323 (GRCm39)	Y103H	probably damaging	Het
Knl1	A	G	2: 118,901,266 (GRCm39)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,102,200 (GRCm39)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,655,809 (GRCm39)	P138L	probably benign	Het
Lhx1	G	A	11: 84,410,698 (GRCm39)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,362,842 (GRCm39)	A131V	probably benign	Het
Neb	A	T	2: 52,161,604 (GRCm39)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,708,546 (GRCm39)	F740L	probably benign	Het
Nop10	A	G	2: 112,092,391 (GRCm39)	N8S	probably benign	Het
Opalin	T	A	19: 41,058,374 (GRCm39)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,720,993 (GRCm39)	H175Q	probably benign	Het
Pask	C	T	1: 93,238,627 (GRCm39)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,948,716 (GRCm39)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,695,558 (GRCm39)	M463T	probably benign	Het
Pde6a	A	T	18: 61,414,596 (GRCm39)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,033,850 (GRCm39)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,050,658 (GRCm39)	N234S	probably damaging	Het
Ptprm	T	A	17: 67,116,622 (GRCm39)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,288,064 (GRCm39)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,553,707 (GRCm39)	I103F	probably damaging	Het
Rfc4	A	G	16: 22,934,183 (GRCm39)	I206T	probably benign	Het
Rhcg	A	G	7: 79,267,189 (GRCm39)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,945,803 (GRCm39)	I89V	probably benign	Het
Serac1	T	C	17: 6,115,351 (GRCm39)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,200,892 (GRCm39)	N175S	probably null	Het
Slc25a19	C	T	11: 115,507,373 (GRCm39)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,307,303 (GRCm39)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,534,126 (GRCm39)		probably benign	Het
Spats1	T	A	17: 45,760,095 (GRCm39)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,689 (GRCm39)	T219A	probably benign	Het
Spink13	A	G	18: 62,748,026 (GRCm39)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm39)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm39)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,300,633 (GRCm39)	*439Q	probably null	Het
Tmed2	T	A	5: 124,684,983 (GRCm39)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,637,470 (GRCm39)	Y370*	probably null	Het
Ttn	A	G	2: 76,642,588 (GRCm39)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,253,292 (GRCm39)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,030,695 (GRCm39)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,309,143 (GRCm39)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,223,251 (GRCm39)	L173P	probably benign	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
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'- TGACATCTGAACTCACTGATCTGTATA -3'
(R):5'- CACAAGTCTAAGATACTGGGGAA -3'

Sequencing Primer
(F):5'- TACCCATACACAAGACACATACATAC -3'
(R):5'- TCTTGCAGAGGACCTAAGTTCGAC -3'

Posted On

2019-06-26