Incidental Mutation 'IGL01970:Wee1'
| ID |
182541 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wee1
|
| Ensembl Gene |
ENSMUSG00000031016 |
| Gene Name |
WEE 1 homolog 1 (S. pombe) |
| Synonyms |
Wee1A |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109721266-109742506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109738457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 523
(H523Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033326]
|
| AlphaFold |
P47810 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033326
AA Change: H523Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: H523Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
112 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
298 |
566 |
1.9e-26 |
PFAM |
|
Pfam:Pkinase
|
298 |
568 |
1.7e-61 |
PFAM |
|
low complexity region
|
620 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185931
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. Mice homozygous for a knock-out allele exhibit lethality between E3.5 and E7.5 with reduced proliferation, increased apoptosis and abnormal G2/M checkpoint function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdk9 |
T |
C |
2: 32,598,063 (GRCm39) |
H280R |
possibly damaging |
Het |
| Cenpt |
C |
T |
8: 106,571,748 (GRCm39) |
R461H |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,579,645 (GRCm39) |
T151A |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,232 (GRCm39) |
I165T |
possibly damaging |
Het |
| Gm17305 |
A |
T |
11: 69,255,646 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,528,465 (GRCm39) |
S391T |
probably damaging |
Het |
| Klrg2 |
T |
C |
6: 38,613,383 (GRCm39) |
K207E |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,755,299 (GRCm39) |
I487V |
possibly damaging |
Het |
| Krt27 |
A |
G |
11: 99,239,547 (GRCm39) |
L311P |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,151,326 (GRCm39) |
Y450C |
probably damaging |
Het |
| Oacyl |
A |
T |
18: 65,882,785 (GRCm39) |
I627F |
possibly damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Rft1 |
C |
T |
14: 30,412,492 (GRCm39) |
L518F |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,071,437 (GRCm39) |
Q1209L |
possibly damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,844,313 (GRCm39) |
S57G |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,686,792 (GRCm39) |
M968T |
probably benign |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Sorbs2 |
G |
A |
8: 46,198,840 (GRCm39) |
V73I |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,081,595 (GRCm39) |
D347E |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,832,632 (GRCm39) |
T78P |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,997,135 (GRCm39) |
E224G |
probably damaging |
Het |
| Trnau1ap |
T |
C |
4: 132,041,298 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,813 (GRCm39) |
M228K |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,773,300 (GRCm39) |
I109T |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,165,980 (GRCm39) |
N524S |
probably benign |
Het |
|
| Other mutations in Wee1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Wee1
|
APN |
7 |
109,734,060 (GRCm39) |
splice site |
probably null |
|
|
IGL00981:Wee1
|
APN |
7 |
109,738,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01017:Wee1
|
APN |
7 |
109,725,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01357:Wee1
|
APN |
7 |
109,741,242 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01838:Wee1
|
APN |
7 |
109,723,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02396:Wee1
|
APN |
7 |
109,741,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Wee1
|
APN |
7 |
109,738,483 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02884:Wee1
|
APN |
7 |
109,725,269 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03085:Wee1
|
APN |
7 |
109,723,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03221:Wee1
|
APN |
7 |
109,726,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03383:Wee1
|
APN |
7 |
109,738,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Wee1
|
UTSW |
7 |
109,723,733 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1934:Wee1
|
UTSW |
7 |
109,721,698 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3110:Wee1
|
UTSW |
7 |
109,730,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Wee1
|
UTSW |
7 |
109,730,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3978:Wee1
|
UTSW |
7 |
109,723,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4348:Wee1
|
UTSW |
7 |
109,730,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5435:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5436:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5449:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5566:Wee1
|
UTSW |
7 |
109,725,257 (GRCm39) |
nonsense |
probably null |
|
|
R5630:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5632:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5685:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5694:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5807:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R5941:Wee1
|
UTSW |
7 |
109,723,776 (GRCm39) |
frame shift |
probably null |
|
|
R6044:Wee1
|
UTSW |
7 |
109,738,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6163:Wee1
|
UTSW |
7 |
109,734,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Wee1
|
UTSW |
7 |
109,723,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7203:Wee1
|
UTSW |
7 |
109,734,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7835:Wee1
|
UTSW |
7 |
109,730,085 (GRCm39) |
nonsense |
probably null |
|
|
R8273:Wee1
|
UTSW |
7 |
109,723,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8953:Wee1
|
UTSW |
7 |
109,723,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9077:Wee1
|
UTSW |
7 |
109,725,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Wee1
|
UTSW |
7 |
109,721,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9463:Wee1
|
UTSW |
7 |
109,721,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Wee1
|
UTSW |
7 |
109,725,210 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9748:Wee1
|
UTSW |
7 |
109,721,722 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation