Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Bub1'

547966

Institutional Source

Beutler Lab

Gene Symbol

Bub1

Ensembl Gene

ENSMUSG00000027379

Gene Name

BUB1, mitotic checkpoint serine/threonine kinase

Synonyms

D2Xrf87, Bub1a

MMRRC Submission

045154-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127643036-127673785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127671447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 46 (M46L)

Ref Sequence

ENSEMBL: ENSMUSP00000028858 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028858
AA Change: M46L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: M46L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,181 (GRCm39)	V220D	probably benign	Het
Ankrd1	T	C	19: 36,095,633 (GRCm39)	E113G	possibly damaging	Het
Aqp12	T	C	1: 92,939,718 (GRCm39)	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,296 (GRCm39)	F15S	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2cd4d	A	G	3: 94,270,800 (GRCm39)	H22R	probably benign	Het
Ccdc157	A	G	11: 4,094,586 (GRCm39)	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,952 (GRCm39)		probably benign	Het
Cela1	T	A	15: 100,580,774 (GRCm39)	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,940,100 (GRCm39)	A697E	possibly damaging	Het
Cr2	T	C	1: 194,833,918 (GRCm39)	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,796,063 (GRCm39)	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,600,434 (GRCm39)		probably null	Het
Dock2	A	T	11: 34,177,684 (GRCm39)	L1824Q	probably benign	Het
Dock2	T	C	11: 34,586,044 (GRCm39)	Y546C	probably benign	Het
Focad	G	A	4: 88,192,342 (GRCm39)	C557Y	unknown	Het
Ftmt	T	A	18: 52,465,180 (GRCm39)	N165K	probably benign	Het
Gen1	A	C	12: 11,292,419 (GRCm39)	S457A	probably benign	Het
Gja1	T	G	10: 56,264,129 (GRCm39)	S163A	probably benign	Het
Gm8267	T	C	14: 44,959,481 (GRCm39)	I194M	probably damaging	Het
Golga3	T	A	5: 110,336,529 (GRCm39)	S389R	probably damaging	Het
Gpc5	C	A	14: 115,370,654 (GRCm39)	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,312,661 (GRCm39)	A3420T	probably damaging	Het
Htt	A	G	5: 34,979,067 (GRCm39)	S817G	probably null	Het
Hus1b	C	T	13: 31,131,533 (GRCm39)	C42Y	possibly damaging	Het
Iars2	A	G	1: 185,021,564 (GRCm39)	F913L	probably benign	Het
Kcna4	A	G	2: 107,125,665 (GRCm39)	E133G	probably damaging	Het
Klhl36	T	C	8: 120,603,536 (GRCm39)	L597P	probably benign	Het
Ltv1	T	C	10: 13,056,646 (GRCm39)	E299G	possibly damaging	Het
Mmp12	A	G	9: 7,357,840 (GRCm39)	Y348C	probably damaging	Het
Mmp12	G	A	9: 7,369,173 (GRCm39)	V270I	probably benign	Het
Mmp2	A	G	8: 93,558,333 (GRCm39)	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,846,865 (GRCm39)	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,504,253 (GRCm39)	V177F	possibly damaging	Het
Muc16	A	G	9: 18,557,375 (GRCm39)	S2973P	unknown	Het
Or1e30	A	C	11: 73,677,974 (GRCm39)	D70A	possibly damaging	Het
Or4c114	A	C	2: 88,904,808 (GRCm39)	I209S	possibly damaging	Het
Or5b120	G	T	19: 13,480,243 (GRCm39)	D179Y	probably damaging	Het
Or5b12b	A	T	19: 12,862,006 (GRCm39)	I254F	probably damaging	Het
Or8b48	A	T	9: 38,493,050 (GRCm39)	H159L	probably damaging	Het
Pikfyve	T	A	1: 65,286,364 (GRCm39)	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,318,374 (GRCm39)	M83L	probably damaging	Het
Pnlip	G	T	19: 58,664,695 (GRCm39)	D212Y	probably damaging	Het
Pomt2	T	C	12: 87,174,152 (GRCm39)	N417S	probably damaging	Het
Pxylp1	T	A	9: 96,707,103 (GRCm39)	M360L	probably benign	Het
Rbak	G	A	5: 143,159,682 (GRCm39)	T457I	possibly damaging	Het
Runx2	A	T	17: 45,125,424 (GRCm39)	W31R	probably null	Het
Sec16a	T	A	2: 26,315,277 (GRCm39)	I1795F	probably damaging	Het
Sik2	A	T	9: 50,909,861 (GRCm39)	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,857,371 (GRCm39)	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,459,487 (GRCm39)	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,718,248 (GRCm39)	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,956,524 (GRCm39)	S171R	probably damaging	Het
Srgap1	T	C	10: 121,640,858 (GRCm39)	I669M	probably benign	Het
Stk39	C	A	2: 68,240,471 (GRCm39)	A87S	possibly damaging	Het
Tasor	A	T	14: 27,183,608 (GRCm39)	N689I	probably damaging	Het
Tbx18	C	A	9: 87,587,317 (GRCm39)	S600I	possibly damaging	Het
Tesc	A	C	5: 118,193,025 (GRCm39)	K114Q	probably damaging	Het
Tll1	T	C	8: 64,554,915 (GRCm39)	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,021,679 (GRCm39)	I45K	probably benign	Het
Tnks	T	C	8: 35,307,168 (GRCm39)	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,289,802 (GRCm39)	D920V	probably null	Het
U2af1	A	T	17: 31,867,831 (GRCm39)	D79E	probably benign	Het
Zfp704	T	C	3: 9,535,977 (GRCm39)	D331G	probably damaging	Het
Znrf3	G	T	11: 5,232,442 (GRCm39)	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,635,636 (GRCm39)	C202*	probably null	Het

Other mutations in Bub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Bub1	APN	2	127,671,392 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- GATCTTAACAAGGGAGGAGTCC -3'
(R):5'- TGACCCACTTGGAGAATGGG -3'

Sequencing Primer
(F):5'- TCTACACAGTGAGTTCCAGGATAGC -3'
(R):5'- AATGGGAAAGGTTAGTGCATGTTTG -3'

Posted On

2019-05-13