Incidental Mutation 'R7835:Wee1'
| ID |
605919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wee1
|
| Ensembl Gene |
ENSMUSG00000031016 |
| Gene Name |
WEE 1 homolog 1 (S. pombe) |
| Synonyms |
Wee1A |
| MMRRC Submission |
045889-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
110122046-110143286 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 110130878 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 396
(Y396*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033326]
|
| AlphaFold |
P47810 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033326
AA Change: Y396*
|
| SMART Domains |
Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: Y396*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 79,099,875 (GRCm38) |
S1465T |
probably benign |
Het |
| Accsl |
T |
A |
2: 93,865,984 (GRCm38) |
K90* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,700,440 (GRCm38) |
D674E |
possibly damaging |
Het |
| Adap2 |
T |
A |
11: 80,160,231 (GRCm38) |
V129D |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,987,727 (GRCm38) |
D742G |
|
Het |
| C1ra |
G |
A |
6: 124,517,725 (GRCm38) |
E316K |
probably benign |
Het |
| C330021F23Rik |
A |
G |
8: 3,580,452 (GRCm38) |
|
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,974,153 (GRCm38) |
|
probably null |
Het |
| Ccne1 |
G |
T |
7: 38,102,845 (GRCm38) |
Q133K |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,773,639 (GRCm38) |
H111Y |
possibly damaging |
Het |
| Chst5 |
A |
T |
8: 111,890,602 (GRCm38) |
L129M |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,728,185 (GRCm38) |
S164P |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,777,234 (GRCm38) |
A1966T |
probably damaging |
Het |
| Fam208a |
G |
T |
14: 27,476,643 (GRCm38) |
G1311C |
probably damaging |
Het |
| Fcgbp |
T |
G |
7: 28,117,207 (GRCm38) |
S2365A |
possibly damaging |
Het |
| Ihh |
A |
G |
1: 74,946,366 (GRCm38) |
V320A |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm38) |
V201A |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,767,452 (GRCm38) |
H1117Q |
probably benign |
Het |
| Lcn8 |
C |
A |
2: 25,655,296 (GRCm38) |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,495,042 (GRCm38) |
V1404A |
possibly damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,568,572 (GRCm38) |
T110S |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,962,126 (GRCm38) |
R232C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,809,303 (GRCm38) |
G2117A |
unknown |
Het |
| Mzt1 |
T |
C |
14: 99,046,003 (GRCm38) |
T21A |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,316,004 (GRCm38) |
A183E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,577 (GRCm38) |
D6624G |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,570,071 (GRCm38) |
D183G |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 104,154,445 (GRCm38) |
Y195* |
probably null |
Het |
| Olfr828 |
T |
A |
9: 18,815,809 (GRCm38) |
M162L |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,082,945 (GRCm38) |
F1216I |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,915,142 (GRCm38) |
V135A |
probably benign |
Het |
| Ppcdc |
A |
G |
9: 57,420,276 (GRCm38) |
S83P |
probably benign |
Het |
| Prss21 |
A |
T |
17: 23,869,451 (GRCm38) |
Q130L |
possibly damaging |
Het |
| Rdx |
T |
A |
9: 52,065,788 (GRCm38) |
N112K |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,081,911 (GRCm38) |
|
probably null |
Het |
| Rps26 |
C |
T |
10: 128,626,126 (GRCm38) |
V40I |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,608,236 (GRCm38) |
M405K |
probably damaging |
Het |
| Serinc2 |
A |
C |
4: 130,275,487 (GRCm38) |
C4G |
unknown |
Het |
| Sh3rf2 |
C |
A |
18: 42,111,170 (GRCm38) |
R266S |
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,116,996 (GRCm38) |
I386T |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,872,619 (GRCm38) |
P1694L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,932,029 (GRCm38) |
T682M |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,804,345 (GRCm38) |
V267A |
probably damaging |
Het |
| Trim65 |
A |
G |
11: 116,130,929 (GRCm38) |
L26P |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,871,954 (GRCm38) |
M244K |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,221,139 (GRCm38) |
H221L |
probably benign |
Het |
| Wdr89 |
C |
A |
12: 75,632,899 (GRCm38) |
V194F |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,772,979 (GRCm38) |
V885D |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,537,876 (GRCm38) |
Q419H |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 167,039,827 (GRCm38) |
Y1081H |
probably damaging |
Het |
|
| Other mutations in Wee1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Wee1
|
APN |
7 |
110,134,853 (GRCm38) |
splice site |
probably null |
|
|
IGL00981:Wee1
|
APN |
7 |
110,139,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01017:Wee1
|
APN |
7 |
110,125,848 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01357:Wee1
|
APN |
7 |
110,142,035 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL01838:Wee1
|
APN |
7 |
110,124,537 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01970:Wee1
|
APN |
7 |
110,139,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02396:Wee1
|
APN |
7 |
110,142,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02511:Wee1
|
APN |
7 |
110,139,276 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02884:Wee1
|
APN |
7 |
110,126,062 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03085:Wee1
|
APN |
7 |
110,124,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03221:Wee1
|
APN |
7 |
110,126,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03383:Wee1
|
APN |
7 |
110,139,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0220:Wee1
|
UTSW |
7 |
110,124,526 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1934:Wee1
|
UTSW |
7 |
110,122,491 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3110:Wee1
|
UTSW |
7 |
110,130,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3112:Wee1
|
UTSW |
7 |
110,130,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3978:Wee1
|
UTSW |
7 |
110,124,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4348:Wee1
|
UTSW |
7 |
110,130,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5434:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5435:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5436:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5449:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5566:Wee1
|
UTSW |
7 |
110,126,050 (GRCm38) |
nonsense |
probably null |
|
|
R5630:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5632:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5685:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5694:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5807:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R5941:Wee1
|
UTSW |
7 |
110,124,569 (GRCm38) |
frame shift |
probably null |
|
|
R6044:Wee1
|
UTSW |
7 |
110,139,306 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6163:Wee1
|
UTSW |
7 |
110,135,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6826:Wee1
|
UTSW |
7 |
110,124,663 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7203:Wee1
|
UTSW |
7 |
110,134,794 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8273:Wee1
|
UTSW |
7 |
110,124,484 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8953:Wee1
|
UTSW |
7 |
110,124,484 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9077:Wee1
|
UTSW |
7 |
110,126,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9336:Wee1
|
UTSW |
7 |
110,122,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9463:Wee1
|
UTSW |
7 |
110,122,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9673:Wee1
|
UTSW |
7 |
110,126,003 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9748:Wee1
|
UTSW |
7 |
110,122,515 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGATATCCCAAGAAAGTTGAACC -3'
(R):5'- CCAGTGTCAGAGTGGTCTAATC -3'
Sequencing Primer
(F):5'- TATCCCAAGAAAGTTGAACCAAGAG -3'
(R):5'- GTCAGAGTGGTCTAATCATAAAACCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation