Incidental Mutation 'R3750:Bub1b'
| ID |
310128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bub1b
|
| Ensembl Gene |
ENSMUSG00000040084 |
| Gene Name |
BUB1B, mitotic checkpoint serine/threonine kinase |
| Synonyms |
BUBR1 |
| MMRRC Submission |
040735-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3750 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118428692-118472072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118445936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 319
(N319K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038341]
|
| AlphaFold |
Q9Z1S0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038341
AA Change: N319K
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037126
Gene: ENSMUSG00000040084
AA Change: N319K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GGD|D
|
14 |
35 |
6e-6 |
PDB |
|
Mad3_BUB1_I
|
49 |
173 |
1.83e-68 |
SMART |
|
low complexity region
|
198 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
726 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
806 |
942 |
4.5e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.1433 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(22) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(18) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Clcn6 |
G |
T |
4: 148,108,644 (GRCm39) |
C128* |
probably null |
Het |
| Col6a4 |
C |
A |
9: 105,897,864 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,215,328 (GRCm39) |
A665V |
probably damaging |
Het |
| Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
| Hsd17b3 |
A |
T |
13: 64,210,993 (GRCm39) |
|
probably null |
Het |
| Kcnc4 |
A |
G |
3: 107,355,506 (GRCm39) |
V314A |
probably benign |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Marcks |
G |
A |
10: 37,016,866 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nefh |
A |
G |
11: 4,889,937 (GRCm39) |
V894A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,280,331 (GRCm39) |
Y650* |
probably null |
Het |
| Plce1 |
A |
C |
19: 38,766,343 (GRCm39) |
I2109L |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,681,302 (GRCm39) |
T1178I |
probably damaging |
Het |
| Rtca |
A |
T |
3: 116,286,650 (GRCm39) |
F327L |
probably benign |
Het |
| Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,170,983 (GRCm39) |
N354S |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Spata31 |
G |
T |
13: 65,069,557 (GRCm39) |
L568F |
probably benign |
Het |
| Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,528,887 (GRCm39) |
I137T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Usp1 |
C |
T |
4: 98,822,357 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly damaging |
Het |
|
| Other mutations in Bub1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00676:Bub1b
|
APN |
2 |
118,460,619 (GRCm39) |
missense |
probably benign |
|
|
IGL01319:Bub1b
|
APN |
2 |
118,445,475 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01744:Bub1b
|
APN |
2 |
118,467,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03184:Bub1b
|
APN |
2 |
118,440,258 (GRCm39) |
splice site |
probably benign |
|
|
P0035:Bub1b
|
UTSW |
2 |
118,452,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Bub1b
|
UTSW |
2 |
118,457,457 (GRCm39) |
splice site |
probably benign |
|
|
R0322:Bub1b
|
UTSW |
2 |
118,470,099 (GRCm39) |
splice site |
probably benign |
|
|
R0378:Bub1b
|
UTSW |
2 |
118,471,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0457:Bub1b
|
UTSW |
2 |
118,440,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Bub1b
|
UTSW |
2 |
118,440,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Bub1b
|
UTSW |
2 |
118,437,161 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1071:Bub1b
|
UTSW |
2 |
118,462,928 (GRCm39) |
frame shift |
probably null |
|
|
R1129:Bub1b
|
UTSW |
2 |
118,445,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1138:Bub1b
|
UTSW |
2 |
118,453,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1171:Bub1b
|
UTSW |
2 |
118,437,167 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1613:Bub1b
|
UTSW |
2 |
118,470,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1667:Bub1b
|
UTSW |
2 |
118,471,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1812:Bub1b
|
UTSW |
2 |
118,462,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1828:Bub1b
|
UTSW |
2 |
118,468,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2085:Bub1b
|
UTSW |
2 |
118,452,676 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2137:Bub1b
|
UTSW |
2 |
118,467,199 (GRCm39) |
nonsense |
probably null |
|
|
R3749:Bub1b
|
UTSW |
2 |
118,445,936 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4211:Bub1b
|
UTSW |
2 |
118,461,459 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4579:Bub1b
|
UTSW |
2 |
118,453,657 (GRCm39) |
nonsense |
probably null |
|
|
R4993:Bub1b
|
UTSW |
2 |
118,467,251 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5144:Bub1b
|
UTSW |
2 |
118,445,980 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5229:Bub1b
|
UTSW |
2 |
118,460,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5596:Bub1b
|
UTSW |
2 |
118,461,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Bub1b
|
UTSW |
2 |
118,435,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Bub1b
|
UTSW |
2 |
118,440,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5883:Bub1b
|
UTSW |
2 |
118,440,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Bub1b
|
UTSW |
2 |
118,448,293 (GRCm39) |
missense |
probably benign |
|
|
R6187:Bub1b
|
UTSW |
2 |
118,461,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Bub1b
|
UTSW |
2 |
118,428,944 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6985:Bub1b
|
UTSW |
2 |
118,437,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6988:Bub1b
|
UTSW |
2 |
118,467,311 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7161:Bub1b
|
UTSW |
2 |
118,456,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Bub1b
|
UTSW |
2 |
118,467,267 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7575:Bub1b
|
UTSW |
2 |
118,471,639 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7824:Bub1b
|
UTSW |
2 |
118,457,448 (GRCm39) |
splice site |
probably null |
|
|
R8129:Bub1b
|
UTSW |
2 |
118,468,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8702:Bub1b
|
UTSW |
2 |
118,468,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8787:Bub1b
|
UTSW |
2 |
118,462,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Bub1b
|
UTSW |
2 |
118,468,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACGAACTTCAGCCAGGC -3'
(R):5'- GGTATATCTGGCGTCACTCC -3'
Sequencing Primer
(F):5'- AGCTTAGTCTAGCCTTGAACTTG -3'
(R):5'- GTCACTCCCTCCGAGATGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation