Incidental Mutation 'R4348:Wee1'
| ID |
328404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wee1
|
| Ensembl Gene |
ENSMUSG00000031016 |
| Gene Name |
WEE 1 homolog 1 (S. pombe) |
| Synonyms |
Wee1A |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109721266-109742506 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109730165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 423
(H423R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033326]
|
| AlphaFold |
P47810 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033326
AA Change: H423R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
AA Change: H423R
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ebf2 |
T |
C |
14: 67,476,871 (GRCm39) |
I138T |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Garem2 |
G |
A |
5: 30,310,366 (GRCm39) |
R26H |
possibly damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,692 (GRCm39) |
T61S |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,138,245 (GRCm39) |
V364A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGAAAGTTGAACCAAGAGATTC -3'
(R):5'- AAAGACTTGGGCCAGTGTCAG -3'
Sequencing Primer
(F):5'- GCAGTTGTTGCGTAGAGAGAG -3'
(R):5'- CCAGTGTCAGAGTGGTCTAATC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation