Incidental Mutation 'IGL00162:Mok'
| ID |
1050 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mok
|
| Ensembl Gene |
ENSMUSG00000056458 |
| Gene Name |
MOK protein kinase |
| Synonyms |
Rage, Stk30, MOK, MAPK/MAK/MRK/ overlapping kinase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
IGL00162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
110774232-110807373 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 110774631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070565]
[ENSMUST00000084974]
[ENSMUST00000193053]
|
| AlphaFold |
Q9WVS4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070565
|
| SMART Domains |
Protein: ENSMUSP00000068904
Gene: ENSMUSG00000056458
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
285 |
6.78e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084974
|
| SMART Domains |
Protein: ENSMUSP00000082041
Gene: ENSMUSG00000056458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
138 |
8.4e-20 |
PFAM |
|
Pfam:Pkinase
|
1 |
168 |
4.9e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193053
|
| SMART Domains |
Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
89 |
131 |
2e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194118
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d1b |
T |
G |
4: 108,484,575 (GRCm39) |
L470R |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,892,162 (GRCm39) |
N275K |
possibly damaging |
Het |
| Col22a1 |
A |
G |
15: 71,732,807 (GRCm39) |
|
probably null |
Het |
| Cyb561 |
T |
C |
11: 105,826,662 (GRCm39) |
H197R |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,080 (GRCm39) |
S22P |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,365,286 (GRCm39) |
|
probably benign |
Het |
| Fgf6 |
A |
T |
6: 127,001,048 (GRCm39) |
K185N |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,619 (GRCm39) |
N353S |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,359,335 (GRCm39) |
Y103* |
probably null |
Het |
| Gm7247 |
G |
A |
14: 51,760,962 (GRCm39) |
C177Y |
possibly damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,989 (GRCm39) |
F72L |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,470,416 (GRCm39) |
E368G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,942,462 (GRCm39) |
E851G |
probably benign |
Het |
| Kif3b |
A |
G |
2: 153,159,051 (GRCm39) |
D284G |
probably damaging |
Het |
| Kyat3 |
G |
A |
3: 142,440,235 (GRCm39) |
A320T |
probably benign |
Het |
| Mrgpra3 |
A |
G |
7: 47,239,267 (GRCm39) |
F220L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,407 (GRCm39) |
H192R |
probably benign |
Het |
| Or2ag19 |
A |
G |
7: 106,444,574 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,299,280 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Ptpn12 |
T |
C |
5: 21,234,848 (GRCm39) |
E45G |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,027,694 (GRCm39) |
*516R |
probably null |
Het |
| Rps23rg1 |
A |
G |
8: 3,633,904 (GRCm39) |
T2A |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,023,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Siglech |
T |
C |
7: 55,422,339 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,639,274 (GRCm39) |
L212P |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,772,668 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
T |
2: 26,259,324 (GRCm39) |
C609S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,707,979 (GRCm39) |
T139A |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,319 (GRCm39) |
T478A |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,853,727 (GRCm39) |
S198P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,720,823 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,463,034 (GRCm39) |
E406K |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,483 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
G |
4: 108,499,304 (GRCm39) |
V1338A |
possibly damaging |
Het |
|
| Other mutations in Mok |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01925:Mok
|
APN |
12 |
110,774,646 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02660:Mok
|
APN |
12 |
110,794,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0256:Mok
|
UTSW |
12 |
110,774,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Mok
|
UTSW |
12 |
110,774,479 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2022:Mok
|
UTSW |
12 |
110,778,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2175:Mok
|
UTSW |
12 |
110,781,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3840:Mok
|
UTSW |
12 |
110,781,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3841:Mok
|
UTSW |
12 |
110,781,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4645:Mok
|
UTSW |
12 |
110,774,873 (GRCm39) |
unclassified |
probably benign |
|
|
R5711:Mok
|
UTSW |
12 |
110,774,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Mok
|
UTSW |
12 |
110,781,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6336:Mok
|
UTSW |
12 |
110,800,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6544:Mok
|
UTSW |
12 |
110,777,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Mok
|
UTSW |
12 |
110,781,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7557:Mok
|
UTSW |
12 |
110,774,833 (GRCm39) |
missense |
probably benign |
|
|
R7789:Mok
|
UTSW |
12 |
110,778,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8011:Mok
|
UTSW |
12 |
110,781,351 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8169:Mok
|
UTSW |
12 |
110,774,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8487:Mok
|
UTSW |
12 |
110,776,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9437:Mok
|
UTSW |
12 |
110,774,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2011-07-12 |
Incidental Mutation