Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00765:Bub1'

9320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bub1

Ensembl Gene

ENSMUSG00000027379

Gene Name

BUB1, mitotic checkpoint serine/threonine kinase

Synonyms

D2Xrf87, Bub1a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00765

Quality Score

Status

Chromosome

Chromosomal Location

127643036-127673785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127671392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 64 (N64I)

Ref Sequence

ENSEMBL: ENSMUSP00000028858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028858]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028858
AA Change: N64I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: N64I

Domain	Start	End	E-Value	Type
Mad3_BUB1_I	4	126	7.41e-46	SMART
low complexity region	216	225	N/A	INTRINSIC
low complexity region	372	385	N/A	INTRINSIC
Pfam:Pkinase_Tyr	762	1011	9.3e-10	PFAM
Pfam:Pkinase	762	1037	1.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133943

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation exhibit embryonic lethality prior to implantation. Mice homozygous for a kinase dead allele exhibit aneuploidy in somatic and germ cells and reduced male fertility. [provided by MGI curators]

Allele List at MGI

All alleles(22) : Targeted, knock-out(3) Targeted, other(4) Gene trapped(15)

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	T	16: 14,229,372 (GRCm39)	T368I	probably damaging	Het
Ccdc97	A	G	7: 25,414,277 (GRCm39)	L159P	probably damaging	Het
Chrnd	T	C	1: 87,123,431 (GRCm39)	V214A	probably damaging	Het
Csf2rb2	A	G	15: 78,176,916 (GRCm39)	S185P	probably benign	Het
Dmxl2	A	G	9: 54,322,706 (GRCm39)		probably benign	Het
Eif3e	A	T	15: 43,141,745 (GRCm39)	M55K	probably benign	Het
Ercc6l2	T	C	13: 63,996,586 (GRCm39)	V365A	possibly damaging	Het
Fndc1	A	G	17: 7,991,525 (GRCm39)	S724P	unknown	Het
Htt	T	C	5: 35,034,769 (GRCm39)		probably benign	Het
Ints4	C	T	7: 97,184,412 (GRCm39)	T839I	probably damaging	Het
Lrp6	T	G	6: 134,518,817 (GRCm39)	T83P	probably benign	Het
Lrrc8d	C	T	5: 105,959,818 (GRCm39)	T76I	possibly damaging	Het
Nae1	T	C	8: 105,244,582 (GRCm39)		probably benign	Het
Nlrp14	T	C	7: 106,789,346 (GRCm39)	V45A	possibly damaging	Het
Nrp2	C	A	1: 62,743,410 (GRCm39)	S16*	probably null	Het
Nup155	T	C	15: 8,182,712 (GRCm39)	I1225T	probably benign	Het
Pnpla7	G	T	2: 24,870,236 (GRCm39)	A43S	probably damaging	Het
Prcp	T	C	7: 92,582,307 (GRCm39)	S431P	probably benign	Het
Rbck1	A	G	2: 152,172,874 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,968,867 (GRCm39)	E963G	probably damaging	Het
Tanc1	A	C	2: 59,636,645 (GRCm39)	M836L	probably benign	Het
Tnpo1	A	G	13: 98,986,612 (GRCm39)		probably benign	Het

Other mutations in Bub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00795:Bub1	APN	2	127,663,735 (GRCm39)	missense	probably benign	0.00
IGL00966:Bub1	APN	2	127,652,583 (GRCm39)	missense	probably damaging	1.00
IGL01807:Bub1	APN	2	127,654,897 (GRCm39)	missense	probably benign	0.00
IGL02212:Bub1	APN	2	127,647,271 (GRCm39)	missense	probably damaging	1.00
IGL02537:Bub1	APN	2	127,643,267 (GRCm39)	nonsense	probably null
IGL02935:Bub1	APN	2	127,643,215 (GRCm39)	missense	probably damaging	1.00
IGL03064:Bub1	APN	2	127,659,373 (GRCm39)	missense	probably benign	0.00
R0052:Bub1	UTSW	2	127,650,959 (GRCm39)	missense	probably benign	0.10
R0052:Bub1	UTSW	2	127,650,959 (GRCm39)	missense	probably benign	0.10
R0325:Bub1	UTSW	2	127,643,314 (GRCm39)	nonsense	probably null
R1502:Bub1	UTSW	2	127,669,339 (GRCm39)	missense	probably damaging	0.98
R1627:Bub1	UTSW	2	127,650,933 (GRCm39)	missense	probably benign	0.01
R1743:Bub1	UTSW	2	127,655,770 (GRCm39)	missense	probably damaging	1.00
R1778:Bub1	UTSW	2	127,645,042 (GRCm39)	missense	possibly damaging	0.60
R2043:Bub1	UTSW	2	127,646,140 (GRCm39)	missense	probably damaging	1.00
R2108:Bub1	UTSW	2	127,661,255 (GRCm39)	missense	probably damaging	0.99
R2165:Bub1	UTSW	2	127,643,201 (GRCm39)	missense	probably benign	0.01
R2190:Bub1	UTSW	2	127,652,645 (GRCm39)	missense	probably benign	0.06
R2507:Bub1	UTSW	2	127,643,343 (GRCm39)	missense	probably benign	0.04
R2508:Bub1	UTSW	2	127,643,343 (GRCm39)	missense	probably benign	0.04
R3836:Bub1	UTSW	2	127,656,806 (GRCm39)	missense	probably damaging	1.00
R3862:Bub1	UTSW	2	127,656,676 (GRCm39)	splice site	probably benign
R3904:Bub1	UTSW	2	127,663,862 (GRCm39)	missense	probably benign	0.08
R4373:Bub1	UTSW	2	127,647,156 (GRCm39)	intron	probably benign
R4580:Bub1	UTSW	2	127,671,596 (GRCm39)	critical splice donor site	probably null
R4751:Bub1	UTSW	2	127,665,858 (GRCm39)	intron	probably benign
R5239:Bub1	UTSW	2	127,663,616 (GRCm39)	missense	probably damaging	1.00
R5498:Bub1	UTSW	2	127,656,629 (GRCm39)	missense	possibly damaging	0.59
R5591:Bub1	UTSW	2	127,661,263 (GRCm39)	missense	probably benign	0.16
R5672:Bub1	UTSW	2	127,646,800 (GRCm39)	missense	possibly damaging	0.70
R5907:Bub1	UTSW	2	127,661,142 (GRCm39)	missense	probably benign	0.02
R6714:Bub1	UTSW	2	127,656,652 (GRCm39)	missense	probably benign	0.08
R6781:Bub1	UTSW	2	127,649,777 (GRCm39)	missense	probably damaging	0.99
R6931:Bub1	UTSW	2	127,643,302 (GRCm39)	missense	probably damaging	1.00
R7057:Bub1	UTSW	2	127,671,447 (GRCm39)	missense	probably benign
R7094:Bub1	UTSW	2	127,663,681 (GRCm39)	missense	probably null	0.99
R8197:Bub1	UTSW	2	127,643,177 (GRCm39)	missense	probably damaging	1.00
R8423:Bub1	UTSW	2	127,649,750 (GRCm39)	missense	probably benign	0.00
R8463:Bub1	UTSW	2	127,659,353 (GRCm39)	missense	probably benign	0.30
R8725:Bub1	UTSW	2	127,646,139 (GRCm39)	missense	probably damaging	1.00
R8727:Bub1	UTSW	2	127,646,139 (GRCm39)	missense	probably damaging	1.00
R8840:Bub1	UTSW	2	127,649,927 (GRCm39)	missense	probably benign	0.01
R8904:Bub1	UTSW	2	127,671,622 (GRCm39)	missense	possibly damaging	0.93
R9187:Bub1	UTSW	2	127,656,856 (GRCm39)	missense	possibly damaging	0.68
R9624:Bub1	UTSW	2	127,646,766 (GRCm39)	missense	probably damaging	0.96
R9727:Bub1	UTSW	2	127,652,609 (GRCm39)	missense	possibly damaging	0.61
Z1176:Bub1	UTSW	2	127,671,485 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06