Incidental Mutation 'IGL02511:Wee1'
| ID |
296561 |
| 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 # |
IGL02511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
109721266-109742506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109738483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 532
(R532L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033326]
|
| AlphaFold |
P47810 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033326
AA Change: R532L
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: R532L
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,692,111 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,185,192 (GRCm39) |
D502V |
probably damaging |
Het |
| Adss2 |
T |
C |
1: 177,598,700 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
T |
A |
11: 5,610,845 (GRCm39) |
|
probably null |
Het |
| Atf6b |
T |
C |
17: 34,873,615 (GRCm39) |
S692P |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,684,498 (GRCm39) |
M1T |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntn1 |
A |
T |
15: 92,114,266 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,835,757 (GRCm39) |
F218Y |
probably benign |
Het |
| Dll4 |
G |
A |
2: 119,156,947 (GRCm39) |
G73E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,757,343 (GRCm39) |
M897V |
possibly damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,039,653 (GRCm39) |
R816G |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,208,894 (GRCm39) |
L83P |
probably benign |
Het |
| Enpep |
A |
G |
3: 129,115,059 (GRCm39) |
S238P |
probably damaging |
Het |
| Fermt1 |
A |
C |
2: 132,775,086 (GRCm39) |
|
probably benign |
Het |
| Gm6619 |
T |
A |
6: 131,467,330 (GRCm39) |
I65K |
possibly damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,518 (GRCm39) |
C117S |
possibly damaging |
Het |
| Ksr1 |
T |
C |
11: 78,936,046 (GRCm39) |
D106G |
possibly damaging |
Het |
| Lgr4 |
A |
T |
2: 109,841,617 (GRCm39) |
Y534F |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,356,095 (GRCm39) |
T118A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,723,975 (GRCm39) |
I170N |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,115,743 (GRCm39) |
S53P |
probably benign |
Het |
| Npl |
T |
A |
1: 153,391,227 (GRCm39) |
D176V |
probably damaging |
Het |
| Nrm |
T |
C |
17: 36,172,316 (GRCm39) |
S14P |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,995,265 (GRCm39) |
F313I |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,840,870 (GRCm39) |
M1V |
probably null |
Het |
| Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 127,888,070 (GRCm39) |
|
probably benign |
Het |
| Pdzd4 |
T |
A |
X: 72,838,206 (GRCm39) |
M701L |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,143,731 (GRCm39) |
V3865E |
possibly damaging |
Het |
| Plxna3 |
C |
A |
X: 73,378,991 (GRCm39) |
Q712K |
probably damaging |
Het |
| Pon1 |
A |
G |
6: 5,193,724 (GRCm39) |
L9P |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,435,718 (GRCm39) |
I83F |
probably benign |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,822,226 (GRCm39) |
W212* |
probably null |
Het |
| Slc38a9 |
C |
A |
13: 112,834,541 (GRCm39) |
D239E |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 63,860,859 (GRCm39) |
F479L |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,297,251 (GRCm39) |
S48P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,768,034 (GRCm39) |
M3022L |
unknown |
Het |
| Tulp1 |
C |
A |
17: 28,575,142 (GRCm39) |
R441L |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,585 (GRCm39) |
F128L |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,017,420 (GRCm39) |
V686A |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,475,884 (GRCm39) |
|
probably null |
Het |
| Ushbp1 |
T |
C |
8: 71,843,581 (GRCm39) |
M286V |
probably null |
Het |
| Usp51 |
T |
G |
X: 151,791,726 (GRCm39) |
I440R |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,243 (GRCm39) |
E1467G |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,150,602 (GRCm39) |
V269A |
possibly damaging |
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 |
|
IGL01970:Wee1
|
APN |
7 |
109,738,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Wee1
|
APN |
7 |
109,741,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation