Incidental Mutation 'IGL01813:Bub3'
| ID |
154311 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bub3
|
| Ensembl Gene |
ENSMUSG00000066979 |
| Gene Name |
BUB3 mitotic checkpoint protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
131162081-131173625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131170362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 295
(S295P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084502]
[ENSMUST00000124096]
[ENSMUST00000207231]
[ENSMUST00000207442]
[ENSMUST00000207736]
[ENSMUST00000208571]
|
| AlphaFold |
Q9WVA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084502
AA Change: S295P
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081547
Gene: ENSMUSG00000066979
AA Change: S295P
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
43 |
5.69e-4 |
SMART |
|
WD40
|
46 |
83 |
8.91e-1 |
SMART |
|
WD40
|
88 |
124 |
5.1e-6 |
SMART |
|
WD40
|
127 |
163 |
6.16e0 |
SMART |
|
WD40
|
214 |
262 |
4.02e-4 |
SMART |
|
WD40
|
265 |
302 |
1.97e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207442
AA Change: S295P
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209131
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a component of the mitotic spindle assembly complex. The encoded protein is involved in the regulation of chromosome segregation during oocyte meiosis. Disruption of this gene results in the accumulation of mitotic errors and is lethal in the embryonic stage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality by E8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,117,936 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,359 (GRCm39) |
V929A |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,136 (GRCm39) |
I400V |
probably benign |
Het |
| Atxn2l |
T |
C |
7: 126,099,425 (GRCm39) |
D84G |
probably damaging |
Het |
| Avpr1a |
T |
A |
10: 122,284,916 (GRCm39) |
N69K |
probably damaging |
Het |
| BC034090 |
G |
A |
1: 155,102,085 (GRCm39) |
Q60* |
probably null |
Het |
| Bltp1 |
G |
A |
3: 36,982,669 (GRCm39) |
S778N |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,499,902 (GRCm39) |
S161G |
probably damaging |
Het |
| Clba1 |
C |
T |
12: 112,779,179 (GRCm39) |
T272M |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,954,452 (GRCm39) |
S296C |
probably damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,905,131 (GRCm39) |
R38H |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,122,799 (GRCm39) |
I2052M |
probably damaging |
Het |
| Gm11627 |
T |
C |
11: 102,469,634 (GRCm39) |
|
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,048,212 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
A |
G |
5: 25,495,802 (GRCm39) |
V629A |
possibly damaging |
Het |
| Kremen1 |
T |
C |
11: 5,149,667 (GRCm39) |
T335A |
probably benign |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,649 (GRCm39) |
E184G |
probably damaging |
Het |
| Or8s10 |
A |
G |
15: 98,335,530 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,204 (GRCm39) |
E5G |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,156 (GRCm39) |
Q173L |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,599,407 (GRCm39) |
N174K |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,486,429 (GRCm39) |
H893Y |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,965,302 (GRCm39) |
|
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,102,970 (GRCm39) |
|
probably null |
Het |
| Samd7 |
C |
T |
3: 30,808,435 (GRCm39) |
P83S |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,023,400 (GRCm39) |
Y293F |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,102,956 (GRCm39) |
D692G |
probably benign |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,916,008 (GRCm39) |
H1236Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,914 (GRCm39) |
I667T |
probably benign |
Het |
| Vmn1r183 |
T |
A |
7: 23,754,985 (GRCm39) |
F263I |
probably benign |
Het |
|
| Other mutations in Bub3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0294:Bub3
|
UTSW |
7 |
131,169,953 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1591:Bub3
|
UTSW |
7 |
131,163,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2679:Bub3
|
UTSW |
7 |
131,170,454 (GRCm39) |
splice site |
probably null |
|
|
R2847:Bub3
|
UTSW |
7 |
131,172,613 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4392:Bub3
|
UTSW |
7 |
131,168,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4856:Bub3
|
UTSW |
7 |
131,163,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Bub3
|
UTSW |
7 |
131,162,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Bub3
|
UTSW |
7 |
131,162,467 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7536:Bub3
|
UTSW |
7 |
131,170,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Bub3
|
UTSW |
7 |
131,170,428 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-02-04 |
Incidental Mutation