Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Bub1'

460684

Institutional Source

Beutler Lab

Gene Symbol

Bub1

Ensembl Gene

ENSMUSG00000027379

Gene Name

BUB1, mitotic checkpoint serine/threonine kinase

Synonyms

D2Xrf87, Bub1a

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127643036-127673785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127661142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 316 (N316K)

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: N316K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: N316K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143824

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
Adcy7	A	G	8: 89,038,856 (GRCm39)	T291A	possibly damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Capn1	T	C	19: 6,047,827 (GRCm39)	N412S	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dnpep	C	T	1: 75,288,635 (GRCm39)		probably null	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga4	C	T	2: 79,153,000 (GRCm39)	H896Y	probably benign	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or6n1	T	C	1: 173,916,785 (GRCm39)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,830,621 (GRCm39)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,801,104 (GRCm39)	Y298H	probably damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACGTCTGTGGAGACTAGCTTG -3'
(R):5'- GATGAAATTTTGAGAGCAAACCATG -3'

Sequencing Primer
(F):5'- TTGAGCGAAACATTTCCACTCAGTC -3'
(R):5'- GAAGCAAATGCTTTTGAAGA -3'

Posted On

2017-02-28