Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Bub1'

235402

Institutional Source

Beutler Lab

Gene Symbol

Bub1

Ensembl Gene

ENSMUSG00000027379

Gene Name

BUB1, mitotic checkpoint serine/threonine kinase

Synonyms

D2Xrf87, Bub1a

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127643036-127673785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127643201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1048 (I1048V)

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: I1048V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: I1048V

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: ENSMUST00000138624

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,906,048 (GRCm39)	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,726,338 (GRCm39)	L403R	probably damaging	Het
Alox12	A	T	11: 70,133,398 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,763,210 (GRCm39)	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,597,935 (GRCm39)	Y1268D	probably damaging	Het
Bik	A	G	15: 83,425,624 (GRCm39)	M42V	probably benign	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Cad	A	G	5: 31,219,564 (GRCm39)	N621S	probably damaging	Het
Camkv	C	A	9: 107,822,799 (GRCm39)	N69K	possibly damaging	Het
Ccdc110	T	C	8: 46,395,876 (GRCm39)	M589T	probably benign	Het
Ccdc154	T	A	17: 25,389,864 (GRCm39)	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,777,691 (GRCm39)	L252P	probably damaging	Het
Cdh1	T	C	8: 107,390,953 (GRCm39)	C690R	probably damaging	Het
Cfap157	T	G	2: 32,668,175 (GRCm39)		probably null	Het
Cux2	A	G	5: 122,025,540 (GRCm39)	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 106,925,880 (GRCm39)	P21S	probably damaging	Het
Cyp51	T	G	5: 4,136,594 (GRCm39)	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,137,152 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,642,688 (GRCm39)	V1104I	possibly damaging	Het
Ephb4	A	G	5: 137,352,688 (GRCm39)	I90M	probably benign	Het
Fam13c	A	G	10: 70,378,523 (GRCm39)	N269S	probably damaging	Het
Fam83c	T	A	2: 155,673,444 (GRCm39)	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,194,542 (GRCm39)	F1166L	probably benign	Het
Fem1a	A	G	17: 56,564,686 (GRCm39)	N260D	probably benign	Het
Fnbp4	T	A	2: 90,597,743 (GRCm39)		probably null	Het
Fut9	T	A	4: 25,619,733 (GRCm39)	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734 (GRCm39)	*360L	probably null	Het
Gm3727	T	A	14: 7,264,625 (GRCm38)	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Haspin	A	C	11: 73,027,456 (GRCm39)	N544K	probably damaging	Het
Havcr1	A	G	11: 46,669,379 (GRCm39)	N286S	probably benign	Het
Lrp6	A	C	6: 134,436,246 (GRCm39)	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,808,645 (GRCm39)	H294P	possibly damaging	Het
Mettl25b	A	T	3: 87,834,360 (GRCm39)		probably null	Het
Mon2	A	C	10: 122,878,269 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprb1	T	C	7: 48,097,070 (GRCm39)	I281V	probably benign	Het
Muc4	A	G	16: 32,569,294 (GRCm39)	E118G	probably damaging	Het
Nefh	T	C	11: 4,893,872 (GRCm39)	D394G	probably damaging	Het
Neurl4	A	G	11: 69,794,047 (GRCm39)	T168A	probably benign	Het
Or10s1	A	G	9: 39,986,211 (GRCm39)	N207D	possibly damaging	Het
Or1j18	T	A	2: 36,624,713 (GRCm39)	C127S	probably damaging	Het
Or51a10	T	C	7: 103,698,845 (GRCm39)	T239A	probably benign	Het
Or5ak4	A	T	2: 85,161,446 (GRCm39)	N265K	probably benign	Het
Oxsr1	A	C	9: 119,123,498 (GRCm39)	M92R	probably damaging	Het
Pde8a	T	C	7: 80,945,516 (GRCm39)		probably null	Het
Pex5l	T	A	3: 33,007,281 (GRCm39)		probably null	Het
Pik3r4	T	A	9: 105,549,984 (GRCm39)	M1025K	probably benign	Het
Plch1	C	T	3: 63,605,903 (GRCm39)	E1325K	probably benign	Het
Plin2	A	T	4: 86,586,669 (GRCm39)	V54E	probably damaging	Het
Prss47	A	T	13: 65,192,887 (GRCm39)	I298N	probably damaging	Het
Prune2	A	G	19: 17,097,546 (GRCm39)	R1017G	probably benign	Het
Psg19	T	A	7: 18,530,911 (GRCm39)	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Serpinb1a	T	C	13: 33,034,397 (GRCm39)		probably benign	Het
Sh3pxd2a	A	T	19: 47,266,794 (GRCm39)	V265E	probably damaging	Het
Slc22a17	A	T	14: 55,146,282 (GRCm39)	Y337*	probably null	Het
Slc25a27	A	G	17: 43,968,663 (GRCm39)	V138A	probably benign	Het
Slc4a2	A	G	5: 24,636,314 (GRCm39)	Y220C	probably damaging	Het
Slc66a3	G	A	12: 17,039,840 (GRCm39)	L192F	probably damaging	Het
Stab1	A	T	14: 30,890,392 (GRCm39)	S20T	probably benign	Het
Tcstv2a	A	T	13: 120,725,633 (GRCm39)	Q99L	probably damaging	Het
Thsd1	G	T	8: 22,728,538 (GRCm39)		probably benign	Het
Tmem204	G	A	17: 25,299,566 (GRCm39)		probably benign	Het
Tom1l1	A	G	11: 90,540,721 (GRCm39)		probably benign	Het
Toporsl	T	A	4: 52,612,072 (GRCm39)	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,301,553 (GRCm39)	K852E	unknown	Het
Wdpcp	T	G	11: 21,641,884 (GRCm39)	L174R	probably damaging	Het
Zbbx	G	A	3: 75,019,414 (GRCm39)	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp600	A	T	4: 146,133,488 (GRCm39)	R719*	probably null	Het
Zfp697	C	A	3: 98,335,330 (GRCm39)	A365E	unknown	Het
Zfp957	A	C	14: 79,451,053 (GRCm39)	S249A	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
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

Predicted Primers

PCR Primer
(F):5'- ATTTAGAACAACTAGGTCACATGGG -3'
(R):5'- ACTCGTTGCTATGAACGTTAAGG -3'

Sequencing Primer
(F):5'- TCACATGGGTATATCATATGGGC -3'
(R):5'- GAACGTTAAGGTTGCATTTTATCC -3'

Posted On

2014-10-01