Incidental Mutation 'IGL02195:Map2k1'
| ID |
284035 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map2k1
|
| Ensembl Gene |
ENSMUSG00000004936 |
| Gene Name |
mitogen-activated protein kinase kinase 1 |
| Synonyms |
Mek1, Prkmk1, MAP kinase kinase 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02195
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64093066-64160887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64101090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 196
(I196T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005066]
|
| AlphaFold |
P31938 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005066
AA Change: I196T
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
AA Change: I196T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
|
S_TKc
|
68 |
361 |
4.44e-80 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152535
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
G |
T |
7: 79,476,433 (GRCm39) |
A65D |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,004,376 (GRCm39) |
|
probably benign |
Het |
| Car11 |
G |
T |
7: 45,350,716 (GRCm39) |
V71L |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,708,367 (GRCm39) |
Y123C |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,336,545 (GRCm39) |
V52M |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,219 (GRCm39) |
C560S |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,755 (GRCm39) |
Y170F |
probably benign |
Het |
| Ighv1-54 |
A |
T |
12: 115,157,570 (GRCm39) |
S26T |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,221,222 (GRCm39) |
W718R |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,798,242 (GRCm39) |
|
probably benign |
Het |
| Kif4 |
T |
C |
X: 99,769,822 (GRCm39) |
F1154S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,267,970 (GRCm39) |
C253R |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,917,549 (GRCm39) |
S149G |
probably benign |
Het |
| Lonrf1 |
G |
A |
8: 36,687,102 (GRCm39) |
R745* |
probably null |
Het |
| Manea |
A |
C |
4: 26,340,628 (GRCm39) |
Y111* |
probably null |
Het |
| Matn4 |
T |
C |
2: 164,242,972 (GRCm39) |
D42G |
probably damaging |
Het |
| Meioc |
C |
A |
11: 102,565,683 (GRCm39) |
T433K |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,013,946 (GRCm39) |
V204A |
probably damaging |
Het |
| Nus1 |
A |
G |
10: 52,309,465 (GRCm39) |
D91G |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,417 (GRCm39) |
S53P |
probably benign |
Het |
| Pisd |
A |
G |
5: 32,894,659 (GRCm39) |
L549P |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Prdm15 |
A |
G |
16: 97,637,029 (GRCm39) |
V96A |
probably damaging |
Het |
| Prune2 |
C |
A |
19: 17,096,921 (GRCm39) |
D808E |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,480,849 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
T |
15: 89,432,321 (GRCm39) |
Q947L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,201,882 (GRCm39) |
E616G |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,376 (GRCm39) |
H519R |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,462 (GRCm39) |
L148P |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,707,911 (GRCm39) |
T617A |
probably damaging |
Het |
| Tmem139 |
G |
T |
6: 42,240,901 (GRCm39) |
R162L |
probably damaging |
Het |
| Trim72 |
A |
T |
7: 127,607,136 (GRCm39) |
M222L |
probably damaging |
Het |
|
| Other mutations in Map2k1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
mystic_falls
|
UTSW |
9 |
64,098,548 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0366:Map2k1
|
UTSW |
9 |
64,100,984 (GRCm39) |
splice site |
probably null |
|
|
R4285:Map2k1
|
UTSW |
9 |
64,119,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5254:Map2k1
|
UTSW |
9 |
64,095,027 (GRCm39) |
unclassified |
probably benign |
|
|
R5261:Map2k1
|
UTSW |
9 |
64,098,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5741:Map2k1
|
UTSW |
9 |
64,121,883 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5742:Map2k1
|
UTSW |
9 |
64,101,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5865:Map2k1
|
UTSW |
9 |
64,098,548 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6212:Map2k1
|
UTSW |
9 |
64,112,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Map2k1
|
UTSW |
9 |
64,121,772 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6460:Map2k1
|
UTSW |
9 |
64,094,577 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6843:Map2k1
|
UTSW |
9 |
64,094,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7028:Map2k1
|
UTSW |
9 |
64,101,105 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7115:Map2k1
|
UTSW |
9 |
64,119,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8885:Map2k1
|
UTSW |
9 |
64,094,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation