Incidental Mutation 'R6044:Wee1'
ID |
483716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wee1
|
Ensembl Gene |
ENSMUSG00000031016 |
Gene Name |
WEE 1 homolog 1 (S. pombe) |
Synonyms |
Wee1A |
MMRRC Submission |
044212-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6044 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109721266-109742506 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 109738513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 542
(T542I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033326]
|
AlphaFold |
P47810 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033326
AA Change: T542I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000033326 Gene: ENSMUSG00000031016 AA Change: T542I
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
Adamts20 |
A |
T |
15: 94,180,364 (GRCm39) |
Y1764N |
probably damaging |
Het |
Adamtsl1 |
A |
T |
4: 86,130,928 (GRCm39) |
D223V |
probably damaging |
Het |
Agbl1 |
T |
C |
7: 75,967,868 (GRCm39) |
V31A |
possibly damaging |
Het |
Alk |
T |
C |
17: 72,299,095 (GRCm39) |
H462R |
probably benign |
Het |
Amt |
A |
T |
9: 108,174,450 (GRCm39) |
T72S |
probably damaging |
Het |
Atp12a |
T |
A |
14: 56,613,612 (GRCm39) |
D461E |
probably damaging |
Het |
Bcan |
C |
A |
3: 87,902,950 (GRCm39) |
C276F |
probably damaging |
Het |
Crispld2 |
T |
C |
8: 120,737,410 (GRCm39) |
S54P |
possibly damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,933,987 (GRCm39) |
N478I |
probably damaging |
Het |
Des |
A |
T |
1: 75,340,113 (GRCm39) |
|
probably null |
Het |
Dnajc6 |
A |
T |
4: 101,473,774 (GRCm39) |
I427F |
probably benign |
Het |
Eml4 |
T |
G |
17: 83,753,379 (GRCm39) |
L281R |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,839,878 (GRCm39) |
Y2122C |
probably damaging |
Het |
Fndc11 |
T |
A |
2: 180,863,459 (GRCm39) |
L88Q |
probably damaging |
Het |
Foxo1 |
A |
G |
3: 52,253,258 (GRCm39) |
M474V |
probably benign |
Het |
Gap43 |
A |
T |
16: 42,112,550 (GRCm39) |
D70E |
probably benign |
Het |
Gemin4 |
T |
C |
11: 76,103,760 (GRCm39) |
M334V |
probably benign |
Het |
Gm973 |
T |
C |
1: 59,667,393 (GRCm39) |
L718P |
probably benign |
Het |
Gprin3 |
G |
T |
6: 59,330,657 (GRCm39) |
T550N |
possibly damaging |
Het |
Hddc3 |
T |
A |
7: 79,993,332 (GRCm39) |
V53E |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,298,449 (GRCm39) |
D12E |
probably null |
Het |
Klri2 |
T |
A |
6: 129,717,247 (GRCm39) |
E45D |
probably damaging |
Het |
Lct |
A |
G |
1: 128,235,717 (GRCm39) |
V430A |
possibly damaging |
Het |
Mcm8 |
T |
C |
2: 132,673,600 (GRCm39) |
|
probably null |
Het |
Mmp12 |
A |
G |
9: 7,350,050 (GRCm39) |
T184A |
possibly damaging |
Het |
Morc3 |
T |
C |
16: 93,663,330 (GRCm39) |
V511A |
probably benign |
Het |
Mta2 |
T |
C |
19: 8,925,695 (GRCm39) |
Y397H |
probably damaging |
Het |
Naa50 |
G |
A |
16: 43,979,890 (GRCm39) |
E93K |
possibly damaging |
Het |
Or14j2 |
G |
A |
17: 37,885,426 (GRCm39) |
T296M |
probably damaging |
Het |
Or2t26 |
T |
C |
11: 49,039,522 (GRCm39) |
V146A |
probably benign |
Het |
Or4a77 |
T |
A |
2: 89,487,516 (GRCm39) |
I90F |
probably damaging |
Het |
Or4c126 |
T |
C |
2: 89,823,761 (GRCm39) |
I8T |
possibly damaging |
Het |
Or4k40 |
T |
C |
2: 111,250,423 (GRCm39) |
N291S |
probably damaging |
Het |
Padi4 |
A |
G |
4: 140,475,438 (GRCm39) |
S576P |
possibly damaging |
Het |
Poglut2 |
A |
T |
1: 44,153,611 (GRCm39) |
L221* |
probably null |
Het |
Prss47 |
A |
T |
13: 65,197,120 (GRCm39) |
Y111* |
probably null |
Het |
Ptprm |
A |
G |
17: 67,000,857 (GRCm39) |
V1100A |
probably damaging |
Het |
Rab11fip3 |
G |
A |
17: 26,286,843 (GRCm39) |
P437S |
possibly damaging |
Het |
Rsph14 |
C |
T |
10: 74,867,102 (GRCm39) |
D15N |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slco1a1 |
A |
G |
6: 141,885,743 (GRCm39) |
V94A |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,687,358 (GRCm39) |
E362G |
possibly damaging |
Het |
Sva |
A |
T |
6: 42,017,034 (GRCm39) |
Y47F |
probably benign |
Het |
Tatdn3 |
A |
G |
1: 190,788,558 (GRCm39) |
|
probably null |
Het |
Tlcd4 |
A |
T |
3: 121,001,018 (GRCm39) |
I205K |
probably damaging |
Het |
Tlcd5 |
A |
G |
9: 43,024,903 (GRCm39) |
S18P |
probably benign |
Het |
Tmem131 |
G |
A |
1: 36,920,422 (GRCm39) |
Q93* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,656,665 (GRCm39) |
E1184G |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
Usp40 |
A |
T |
1: 87,917,872 (GRCm39) |
I325K |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,208,731 (GRCm39) |
I5L |
probably benign |
Het |
Wrn |
G |
A |
8: 33,726,457 (GRCm39) |
P1129S |
probably damaging |
Het |
Zfyve16 |
G |
A |
13: 92,659,174 (GRCm39) |
Q246* |
probably null |
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 |
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 |
|
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'- CATCATCTTCCTAGATTTAGCAGC -3'
(R):5'- TCTCTGGGTCAGGATGAATCATG -3'
Sequencing Primer
(F):5'- CATGGTGTGCAATCTTATTTTAGCTC -3'
(R):5'- TGATGACATACTCCTCTAATCCCAG -3'
|
Posted On |
2017-07-14 |