Incidental Mutation 'IGL02701:Mapk1'
| ID |
304133 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mapk1
|
| Ensembl Gene |
ENSMUSG00000063358 |
| Gene Name |
mitogen-activated protein kinase 1 |
| Synonyms |
Erk2, 9030612K14Rik, Prkm1, p42mapk, MAPK2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
16801246-16865317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16833770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 41
(Y41C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023462]
[ENSMUST00000069107]
[ENSMUST00000115731]
[ENSMUST00000232611]
|
| AlphaFold |
P63085 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023462
AA Change: Y41C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023462
Gene: ENSMUSG00000063358
AA Change: Y41C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
311 |
1.06e-95 |
SMART |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069107
AA Change: Y41C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065983
Gene: ENSMUSG00000063358
AA Change: Y41C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
311 |
1.06e-95 |
SMART |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115731
AA Change: Y41C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111396
Gene: ENSMUSG00000063358
AA Change: Y41C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
311 |
1.06e-95 |
SMART |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232611
AA Change: Y41C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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 encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutant embryos implant in the uterus, but die shortly thereafter failing to form extraembryonic tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
A |
G |
2: 20,896,902 (GRCm39) |
C125R |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,736 (GRCm39) |
D383G |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,061 (GRCm39) |
E691G |
probably damaging |
Het |
| Chrm3 |
G |
A |
13: 9,928,500 (GRCm39) |
R179* |
probably null |
Het |
| Cnrip1 |
A |
G |
11: 17,028,415 (GRCm39) |
T116A |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,389,934 (GRCm39) |
V2223A |
probably benign |
Het |
| Dalrd3 |
T |
A |
9: 108,449,483 (GRCm39) |
V143D |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,432,375 (GRCm39) |
I886L |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,635 (GRCm39) |
F1325L |
possibly damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,890,856 (GRCm39) |
T253S |
probably benign |
Het |
| Fads2b |
A |
G |
2: 85,314,513 (GRCm39) |
L480P |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,436,170 (GRCm39) |
S51L |
probably benign |
Het |
| Gde1 |
T |
A |
7: 118,297,860 (GRCm39) |
T9S |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,455 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,284,485 (GRCm39) |
A3481V |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
| Ighv12-3 |
A |
C |
12: 114,330,421 (GRCm39) |
S25A |
probably damaging |
Het |
| Itga5 |
A |
C |
15: 103,256,193 (GRCm39) |
C920G |
probably damaging |
Het |
| Kmt5b |
A |
G |
19: 3,846,681 (GRCm39) |
D118G |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 41,136,029 (GRCm39) |
N1647T |
possibly damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,649,079 (GRCm39) |
E363G |
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,747,357 (GRCm39) |
V178A |
probably damaging |
Het |
| Or13c7d |
A |
G |
4: 43,770,366 (GRCm39) |
I215T |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,802 (GRCm39) |
I289V |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,649 (GRCm39) |
T242S |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,541 (GRCm39) |
V1464A |
unknown |
Het |
| Plekhg5 |
T |
C |
4: 152,187,479 (GRCm39) |
S82P |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,494 (GRCm39) |
T41A |
probably benign |
Het |
| Ppip5k1 |
A |
C |
2: 121,147,130 (GRCm39) |
|
probably null |
Het |
| Pttg1ip2 |
A |
G |
5: 5,516,623 (GRCm39) |
|
probably null |
Het |
| Rpl14 |
T |
C |
9: 120,402,639 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,247 (GRCm39) |
F554L |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,271 (GRCm39) |
V635E |
probably benign |
Het |
| Sv2a |
T |
A |
3: 96,094,447 (GRCm39) |
C261S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,903,623 (GRCm39) |
I353V |
probably benign |
Het |
| Tspan4 |
G |
A |
7: 141,071,941 (GRCm39) |
V205M |
probably damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,047 (GRCm39) |
R93* |
probably null |
Het |
| Wwox |
T |
A |
8: 115,433,108 (GRCm39) |
V258D |
probably damaging |
Het |
| Zmynd12 |
G |
T |
4: 119,301,952 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mapk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Mapk1
|
APN |
16 |
16,853,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01486:Mapk1
|
APN |
16 |
16,836,144 (GRCm39) |
splice site |
probably benign |
|
|
IGL01764:Mapk1
|
APN |
16 |
16,801,597 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02138:Mapk1
|
APN |
16 |
16,841,316 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0517:Mapk1
|
UTSW |
16 |
16,833,910 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1609:Mapk1
|
UTSW |
16 |
16,856,170 (GRCm39) |
splice site |
probably benign |
|
|
R1862:Mapk1
|
UTSW |
16 |
16,844,293 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2885:Mapk1
|
UTSW |
16 |
16,844,309 (GRCm39) |
missense |
probably benign |
|
|
R4205:Mapk1
|
UTSW |
16 |
16,856,321 (GRCm39) |
intron |
probably benign |
|
|
R4959:Mapk1
|
UTSW |
16 |
16,836,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Mapk1
|
UTSW |
16 |
16,836,333 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6630:Mapk1
|
UTSW |
16 |
16,844,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Mapk1
|
UTSW |
16 |
16,853,326 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8230:Mapk1
|
UTSW |
16 |
16,843,930 (GRCm39) |
missense |
noncoding transcript |
|
|
R9132:Mapk1
|
UTSW |
16 |
16,856,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9214:Mapk1
|
UTSW |
16 |
16,853,549 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9373:Mapk1
|
UTSW |
16 |
16,836,154 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2015-04-16 |
Incidental Mutation