Incidental Mutation 'R5449:Wee1'
| ID |
429226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wee1
|
| Ensembl Gene |
ENSMUSG00000031016 |
| Gene Name |
WEE 1 homolog 1 (S. pombe) |
| Synonyms |
Wee1A |
| MMRRC Submission |
043014-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5449 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109721266-109742506 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TCCCC to TCCC
at 109723776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033326]
|
| AlphaFold |
P47810 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033326
|
| SMART Domains |
Protein: ENSMUSP00000033326
Gene: ENSMUSG00000031016
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210940
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,123,579 (GRCm39) |
I98F |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,537 (GRCm39) |
K197E |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,251,737 (GRCm39) |
|
probably null |
Het |
| Atad5 |
A |
G |
11: 80,014,934 (GRCm39) |
I1337V |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,662,891 (GRCm39) |
T550A |
probably damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,194,888 (GRCm39) |
L952V |
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,069,762 (GRCm39) |
|
probably null |
Het |
| Cfl1 |
A |
G |
19: 5,543,521 (GRCm39) |
*167W |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,798 (GRCm39) |
D734G |
unknown |
Het |
| Cry1 |
G |
A |
10: 84,968,999 (GRCm39) |
L581F |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,824,916 (GRCm39) |
D406G |
probably benign |
Het |
| Faah |
T |
C |
4: 115,856,692 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,926,731 (GRCm39) |
F607S |
probably damaging |
Het |
| Fga |
CAAAG |
CAAAGAAAG |
3: 82,938,169 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
G |
A |
11: 102,086,923 (GRCm39) |
Q46* |
probably null |
Het |
| Hltf |
A |
G |
3: 20,123,247 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ilvbl |
G |
A |
10: 78,412,862 (GRCm39) |
|
probably null |
Het |
| Ldhc |
T |
C |
7: 46,519,082 (GRCm39) |
S102P |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,167,127 (GRCm39) |
V1529A |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,254 (GRCm39) |
I202V |
probably benign |
Het |
| Nscme3l |
G |
A |
19: 5,553,292 (GRCm39) |
T163M |
probably benign |
Het |
| Pdc |
A |
C |
1: 150,209,190 (GRCm39) |
L224F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,956,344 (GRCm39) |
V764A |
possibly damaging |
Het |
| Plxna1 |
T |
C |
6: 89,300,590 (GRCm39) |
D1578G |
probably damaging |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Ptrh1 |
A |
G |
2: 32,666,358 (GRCm39) |
S37G |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,116,570 (GRCm39) |
D411G |
probably benign |
Het |
| Riok3 |
A |
T |
18: 12,288,303 (GRCm39) |
E493D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,902 (GRCm39) |
M570T |
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,488,154 (GRCm39) |
D187G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,151,346 (GRCm39) |
I819F |
probably damaging |
Het |
| Slc7a5 |
C |
A |
8: 122,613,087 (GRCm39) |
W330C |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,187,434 (GRCm39) |
F230Y |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tro |
T |
C |
X: 149,428,966 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,793,981 (GRCm39) |
M68L |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,074 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,343 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,001,101 (GRCm39) |
S58P |
probably 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 |
|
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 |
|
|
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'- GCCACTTAGGAAGGCAAGTTG -3'
(R):5'- TGAAGACATTCATGCCATTCAGTAG -3'
Sequencing Primer
(F):5'- GTTGGAGGTTATATAGAGAAGACTCC -3'
(R):5'- AACCTAATTGTGTGCCAGGC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation