Incidental Mutation 'R7115:Map2k1'
| ID |
551731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2k1
|
| Ensembl Gene |
ENSMUSG00000004936 |
| Gene Name |
mitogen-activated protein kinase kinase 1 |
| Synonyms |
Mek1, Prkmk1, MAP kinase kinase 1 |
| MMRRC Submission |
045206-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64093066-64160887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64119888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 139
(I139T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005066]
|
| AlphaFold |
P31938 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005066
AA Change: I139T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
AA Change: I139T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
|
S_TKc
|
68 |
361 |
4.44e-80 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
| Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,645 (GRCm39) |
T405M |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
| Elf3 |
T |
G |
1: 135,184,856 (GRCm39) |
D110A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,063 (GRCm39) |
T373I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,199,638 (GRCm39) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,527 (GRCm39) |
R840* |
probably null |
Het |
|
| Other mutations in Map2k1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02195:Map2k1
|
APN |
9 |
64,101,090 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
|
R8885:Map2k1
|
UTSW |
9 |
64,094,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCACTGAGAATTCCTGGC -3'
(R):5'- AGAAAGACATTCTTCTTTACTCCAC -3'
Sequencing Primer
(F):5'- GAAGCAATGCTGTCATCCTG -3'
(R):5'- ACTCCACTTCTTAAAAGCTTTCCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation