Incidental Mutation 'R3982:Wee2'
| ID |
345310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wee2
|
| Ensembl Gene |
ENSMUSG00000037159 |
| Gene Name |
WEE1 homolog 2 (S. pombe) |
| Synonyms |
Wee1b, LOC381759 |
| MMRRC Submission |
041608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3982 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
40416022-40443747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40432175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 248
(N248I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038907]
[ENSMUST00000202464]
|
| AlphaFold |
Q66JT0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038907
AA Change: N248I
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038754
Gene: ENSMUSG00000037159
AA Change: N248I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
208 |
481 |
3.6e-51 |
PFAM |
|
Pfam:Pkinase_Tyr
|
209 |
478 |
9.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202464
|
| SMART Domains |
Protein: ENSMUSP00000144628
Gene: ENSMUSG00000037159
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2715 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
T |
C |
10: 14,324,589 (GRCm39) |
N445S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,842,373 (GRCm39) |
T902A |
possibly damaging |
Het |
| Atf4 |
T |
C |
15: 80,141,069 (GRCm39) |
V153A |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,984,365 (GRCm39) |
T3230A |
unknown |
Het |
| Cadps2 |
A |
G |
6: 23,263,530 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Cth |
A |
T |
3: 157,619,334 (GRCm39) |
L163* |
probably null |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,934,608 (GRCm39) |
L269P |
probably damaging |
Het |
| Gpr62 |
G |
A |
9: 106,342,085 (GRCm39) |
A281V |
probably benign |
Het |
| Hapln1 |
T |
A |
13: 89,753,560 (GRCm39) |
F242Y |
probably benign |
Het |
| Ighv1-39 |
A |
T |
12: 114,878,251 (GRCm39) |
S107T |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,305,774 (GRCm39) |
V72A |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,560,101 (GRCm39) |
C124* |
probably null |
Het |
| Lrrk2 |
T |
A |
15: 91,593,487 (GRCm39) |
M482K |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,971,164 (GRCm39) |
N734S |
probably benign |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mdga1 |
C |
A |
17: 30,150,238 (GRCm39) |
A125S |
unknown |
Het |
| Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Nifk |
T |
A |
1: 118,257,282 (GRCm39) |
S138R |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,358 (GRCm39) |
V187A |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pigo |
A |
T |
4: 43,023,482 (GRCm39) |
S231T |
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,928,654 (GRCm39) |
T867M |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,055 (GRCm39) |
S379T |
probably damaging |
Het |
| Polg2 |
G |
A |
11: 106,670,028 (GRCm39) |
R81* |
probably null |
Het |
| Prpf4b |
C |
T |
13: 35,068,196 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,379,257 (GRCm39) |
I1981F |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,245,080 (GRCm39) |
E1307K |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,948 (GRCm39) |
M807K |
probably damaging |
Het |
|
| Other mutations in Wee2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Wee2
|
APN |
6 |
40,438,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01096:Wee2
|
APN |
6 |
40,440,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01978:Wee2
|
APN |
6 |
40,432,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Wee2
|
APN |
6 |
40,438,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03091:Wee2
|
APN |
6 |
40,438,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03350:Wee2
|
APN |
6 |
40,426,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03352:Wee2
|
APN |
6 |
40,429,589 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0420:Wee2
|
UTSW |
6 |
40,433,929 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0506:Wee2
|
UTSW |
6 |
40,440,187 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1205:Wee2
|
UTSW |
6 |
40,420,875 (GRCm39) |
start gained |
probably benign |
|
|
R1702:Wee2
|
UTSW |
6 |
40,441,135 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3983:Wee2
|
UTSW |
6 |
40,432,175 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5946:Wee2
|
UTSW |
6 |
40,440,146 (GRCm39) |
missense |
probably null |
1.00 |
|
R6020:Wee2
|
UTSW |
6 |
40,426,554 (GRCm39) |
splice site |
probably null |
|
|
R6127:Wee2
|
UTSW |
6 |
40,426,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Wee2
|
UTSW |
6 |
40,426,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6342:Wee2
|
UTSW |
6 |
40,421,189 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6347:Wee2
|
UTSW |
6 |
40,432,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:Wee2
|
UTSW |
6 |
40,432,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Wee2
|
UTSW |
6 |
40,429,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7091:Wee2
|
UTSW |
6 |
40,438,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8258:Wee2
|
UTSW |
6 |
40,421,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Wee2
|
UTSW |
6 |
40,421,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8463:Wee2
|
UTSW |
6 |
40,420,914 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8853:Wee2
|
UTSW |
6 |
40,441,200 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9028:Wee2
|
UTSW |
6 |
40,421,189 (GRCm39) |
missense |
probably benign |
|
|
R9170:Wee2
|
UTSW |
6 |
40,437,977 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9231:Wee2
|
UTSW |
6 |
40,440,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Wee2
|
UTSW |
6 |
40,433,878 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9474:Wee2
|
UTSW |
6 |
40,432,044 (GRCm39) |
nonsense |
probably null |
|
|
R9493:Wee2
|
UTSW |
6 |
40,421,057 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGCTACGAACCCATTG -3'
(R):5'- TGTTCTGGACAACTTGGTAAAGC -3'
Sequencing Primer
(F):5'- GCTACGAACCCATTGCCTTTC -3'
(R):5'- CAAGCAAATGGTGTGTAGTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation