Incidental Mutation 'R2043:Bub1'
| ID |
225165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bub1
|
| Ensembl Gene |
ENSMUSG00000027379 |
| Gene Name |
BUB1, mitotic checkpoint serine/threonine kinase |
| Synonyms |
D2Xrf87, Bub1a |
| MMRRC Submission |
040050-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
127643036-127673785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127646140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 947
(C947S)
|
| 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: C947S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028858
Gene: ENSMUSG00000027379
AA Change: C947S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153048
|
| Meta Mutation Damage Score |
0.9237 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (47/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
C |
18: 80,171,541 (GRCm39) |
M956R |
probably damaging |
Het |
| Aldh1l1 |
T |
A |
6: 90,534,314 (GRCm39) |
D36E |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,872,890 (GRCm39) |
D718G |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,864 (GRCm39) |
M585T |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
| Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
| H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
| Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
| Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
| Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 86,914,882 (GRCm39) |
M519K |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,105,001 (GRCm39) |
I67N |
possibly damaging |
Het |
| Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,769,291 (GRCm39) |
K313E |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCCCTTTAAACTCTGGTAAG -3'
(R):5'- TGTGCTCATAGATCCTGGTCC -3'
Sequencing Primer
(F):5'- TAATCCACCATTTGGGAGGC -3'
(R):5'- GCTCATAGATCCTGGTCCTTGTTTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation