Incidental Mutation 'R6342:Wee2'
| ID |
513916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wee2
|
| Ensembl Gene |
ENSMUSG00000037159 |
| Gene Name |
WEE1 homolog 2 (S. pombe) |
| Synonyms |
Wee1b, LOC381759 |
| MMRRC Submission |
044496-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
40416022-40443747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40421189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 93
(H93R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038907]
[ENSMUST00000141490]
[ENSMUST00000202464]
|
| AlphaFold |
Q66JT0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038907
AA Change: H93R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000038754
Gene: ENSMUSG00000037159
AA Change: H93R
| 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: ENSMUST00000141490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202464
AA Change: H93R
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144628
Gene: ENSMUSG00000037159
AA Change: H93R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
| Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
| Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
| Dhrs9 |
C |
T |
2: 69,223,531 (GRCm39) |
T93M |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
| Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
| Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
| Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
| Kynu |
G |
T |
2: 43,571,463 (GRCm39) |
D460Y |
probably benign |
Het |
| Lrfn2 |
G |
A |
17: 49,404,028 (GRCm39) |
G717D |
probably benign |
Het |
| Lrp3 |
C |
T |
7: 34,901,731 (GRCm39) |
D696N |
probably benign |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,755,644 (GRCm39) |
I579N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
| Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
| Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
| Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
| Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,837 (GRCm39) |
C264* |
probably null |
Het |
| Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
probably benign |
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 |
|
R3982:Wee2
|
UTSW |
6 |
40,432,175 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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'- TGACTGCACAAGACATCGGAG -3'
(R):5'- GCAGGTAGACACTTCATTCTGTTTC -3'
Sequencing Primer
(F):5'- CACAAGACATCGGAGGGGCC -3'
(R):5'- GCCTTCATTTCCACTAACAAATAGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation