Incidental Mutation 'IGL02471:Mknk2'
| ID |
294724 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mknk2
|
| Ensembl Gene |
ENSMUSG00000020190 |
| Gene Name |
MAP kinase-interacting serine/threonine kinase 2 |
| Synonyms |
Mnk2, 2010016G11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80501152-80512264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80503955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 319
(F319I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003433]
[ENSMUST00000197276]
[ENSMUST00000198819]
[ENSMUST00000199949]
[ENSMUST00000200082]
|
| AlphaFold |
Q8CDB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003433
AA Change: F272I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: F272I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
S_TKc
|
36 |
321 |
7.09e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197276
|
| SMART Domains |
Protein: ENSMUSP00000143679
Gene: ENSMUSG00000020190
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1koba_
|
52 |
118 |
3e-11 |
SMART |
|
PDB:2AC3|A
|
59 |
118 |
3e-32 |
PDB |
|
Blast:S_TKc
|
71 |
118 |
1e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199949
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200082
AA Change: F319I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: F319I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
70 |
N/A |
INTRINSIC |
|
S_TKc
|
83 |
368 |
7.09e-88 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a serine/threonine-protein kinase, which is targeted by both the extracellular signal-regulated kinase and p38 mitogen-activated protein kinase pathways. This enzyme targets several substrates including eukaryotic translation initiation factor 4E and mammalian target of rapamycin, which are negatively regulated by its phosphorylation. Null mutant mice do not exhibit developmental or reproductive defects. However, mice null for both this protein and mitogen-activated protein kinase-interacting serine/threonine protein kinase 1 have delayed tumor development in phosphatase and tensin homolog mutant mice, indicating an oncogenic function for this gene in tumor development. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous null mice are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,297,357 (GRCm39) |
H2378N |
probably benign |
Het |
| Btaf1 |
C |
A |
19: 36,977,592 (GRCm39) |
A1470E |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,793 (GRCm39) |
D228G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,128 (GRCm39) |
D205G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,546,876 (GRCm39) |
T231A |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,608,860 (GRCm39) |
V723A |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,282,971 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
G |
11: 46,091,630 (GRCm39) |
T1097P |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,444 (GRCm39) |
R667* |
probably null |
Het |
| Dock10 |
T |
C |
1: 80,493,339 (GRCm39) |
E1878G |
probably damaging |
Het |
| Ermap |
G |
A |
4: 119,037,160 (GRCm39) |
H353Y |
probably damaging |
Het |
| Etfa |
A |
T |
9: 55,393,984 (GRCm39) |
|
probably null |
Het |
| F5 |
C |
T |
1: 164,001,860 (GRCm39) |
P188S |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,326 (GRCm39) |
E143K |
possibly damaging |
Het |
| Gsr |
C |
T |
8: 34,172,612 (GRCm39) |
|
probably benign |
Het |
| Hebp1 |
T |
A |
6: 135,132,274 (GRCm39) |
Y31F |
probably benign |
Het |
| Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
| Lamb1 |
T |
A |
12: 31,370,907 (GRCm39) |
D1319E |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,652,408 (GRCm39) |
V1154E |
probably benign |
Het |
| Manba |
G |
A |
3: 135,212,769 (GRCm39) |
|
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,003,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,560,726 (GRCm39) |
T784A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,279,721 (GRCm39) |
E107G |
probably benign |
Het |
| Or11h6 |
A |
T |
14: 50,880,214 (GRCm39) |
I159F |
probably benign |
Het |
| Or56b34 |
T |
A |
7: 104,938,252 (GRCm39) |
F317L |
probably benign |
Het |
| Or9q2 |
G |
A |
19: 13,772,589 (GRCm39) |
P129S |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,622,530 (GRCm39) |
E41G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,170,036 (GRCm39) |
D309G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,207 (GRCm39) |
S367P |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,275 (GRCm39) |
N224K |
probably benign |
Het |
| Rchy1 |
A |
T |
5: 92,105,405 (GRCm39) |
C65* |
probably null |
Het |
| Rgs18 |
T |
C |
1: 144,650,359 (GRCm39) |
D56G |
probably benign |
Het |
| Rtraf |
A |
C |
14: 19,862,296 (GRCm39) |
L197R |
probably damaging |
Het |
| Slc44a5 |
G |
T |
3: 153,962,213 (GRCm39) |
W382L |
probably damaging |
Het |
| Snx24 |
C |
T |
18: 53,518,241 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,897 (GRCm39) |
D1284G |
probably damaging |
Het |
| Tmem54 |
A |
G |
4: 129,002,111 (GRCm39) |
M53V |
probably benign |
Het |
| Trip6 |
G |
A |
5: 137,308,618 (GRCm39) |
P414S |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,751 (GRCm39) |
Y122H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,877 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,230,551 (GRCm39) |
G293R |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp446 |
T |
G |
7: 12,716,181 (GRCm39) |
V209G |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Mknk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01468:Mknk2
|
APN |
10 |
80,503,498 (GRCm39) |
splice site |
probably benign |
|
|
IGL02643:Mknk2
|
APN |
10 |
80,504,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Mknk2
|
UTSW |
10 |
80,504,768 (GRCm39) |
splice site |
probably benign |
|
|
IGL03052:Mknk2
|
UTSW |
10 |
80,505,496 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0645:Mknk2
|
UTSW |
10 |
80,507,742 (GRCm39) |
splice site |
probably null |
|
|
R2061:Mknk2
|
UTSW |
10 |
80,507,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2105:Mknk2
|
UTSW |
10 |
80,504,435 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2167:Mknk2
|
UTSW |
10 |
80,504,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Mknk2
|
UTSW |
10 |
80,503,809 (GRCm39) |
nonsense |
probably null |
|
|
R4649:Mknk2
|
UTSW |
10 |
80,505,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Mknk2
|
UTSW |
10 |
80,507,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Mknk2
|
UTSW |
10 |
80,507,597 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5433:Mknk2
|
UTSW |
10 |
80,503,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5518:Mknk2
|
UTSW |
10 |
80,504,475 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5813:Mknk2
|
UTSW |
10 |
80,511,696 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6060:Mknk2
|
UTSW |
10 |
80,507,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6151:Mknk2
|
UTSW |
10 |
80,504,859 (GRCm39) |
splice site |
probably null |
|
|
R6366:Mknk2
|
UTSW |
10 |
80,507,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7640:Mknk2
|
UTSW |
10 |
80,504,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Mknk2
|
UTSW |
10 |
80,503,021 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7943:Mknk2
|
UTSW |
10 |
80,511,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8075:Mknk2
|
UTSW |
10 |
80,507,982 (GRCm39) |
intron |
probably benign |
|
|
R9114:Mknk2
|
UTSW |
10 |
80,504,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Mknk2
|
UTSW |
10 |
80,507,427 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9451:Mknk2
|
UTSW |
10 |
80,505,496 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9506:Mknk2
|
UTSW |
10 |
80,503,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation