Incidental Mutation 'IGL02580:Map2k6'
| ID |
299320 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map2k6
|
| Ensembl Gene |
ENSMUSG00000020623 |
| Gene Name |
mitogen-activated protein kinase kinase 6 |
| Synonyms |
MAP kinase kinase 6, SAPKK3, MKK6, Prkmk6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
110289948-110416348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110381667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 71
(R71H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020949]
[ENSMUST00000100260]
|
| AlphaFold |
P70236 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020949
AA Change: R71H
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000020949
Gene: ENSMUSG00000020623
AA Change: R71H
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
314 |
2.82e-73 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100260
AA Change: R71H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097831
Gene: ENSMUSG00000020623
AA Change: R71H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
53 |
288 |
4.3e-47 |
PFAM |
|
Pfam:Pkinase_Tyr
|
53 |
289 |
1.2e-32 |
PFAM |
|
Pfam:Kinase-like
|
57 |
274 |
7.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146540
|
| 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 dual specificity protein kinase family, which functions 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 phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null targeted mutations of this gene are viable, grow normally and have no gross physical or histologic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
T |
9: 104,204,147 (GRCm39) |
I49N |
probably damaging |
Het |
| Aqp8 |
T |
C |
7: 123,065,953 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
C |
19: 57,703,008 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
A |
G |
8: 107,375,650 (GRCm39) |
T63A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,389,638 (GRCm39) |
L1398S |
probably benign |
Het |
| Ctdp1 |
T |
A |
18: 80,493,305 (GRCm39) |
S397C |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,942 (GRCm39) |
V177D |
probably damaging |
Het |
| Elmo3 |
A |
T |
8: 106,035,126 (GRCm39) |
D419V |
probably damaging |
Het |
| Fabp1 |
T |
C |
6: 71,180,128 (GRCm39) |
S100P |
probably damaging |
Het |
| Hcfc2 |
A |
T |
10: 82,564,256 (GRCm39) |
N485I |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,636 (GRCm39) |
T51A |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,501,398 (GRCm39) |
I184T |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,384,309 (GRCm39) |
S257P |
probably damaging |
Het |
| Nusap1 |
T |
C |
2: 119,479,371 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,965,512 (GRCm39) |
R1699G |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,916,157 (GRCm39) |
N363S |
probably damaging |
Het |
| Or51g1 |
C |
T |
7: 102,633,909 (GRCm39) |
S154N |
probably damaging |
Het |
| Or9m2 |
T |
C |
2: 87,820,857 (GRCm39) |
V134A |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,717,205 (GRCm39) |
|
probably null |
Het |
| Plch2 |
G |
A |
4: 155,069,221 (GRCm39) |
T1135I |
probably benign |
Het |
| Riox2 |
G |
A |
16: 59,306,936 (GRCm39) |
V276I |
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,419,418 (GRCm39) |
D144G |
probably damaging |
Het |
| Usp40 |
C |
A |
1: 87,908,688 (GRCm39) |
|
probably null |
Het |
| Vars2 |
G |
A |
17: 35,971,777 (GRCm39) |
A73V |
possibly damaging |
Het |
|
| Other mutations in Map2k6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01336:Map2k6
|
APN |
11 |
110,387,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01778:Map2k6
|
APN |
11 |
110,403,695 (GRCm39) |
intron |
probably benign |
|
|
IGL02058:Map2k6
|
APN |
11 |
110,383,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Map2k6
|
APN |
11 |
110,387,299 (GRCm39) |
splice site |
probably benign |
|
|
Heartening
|
UTSW |
11 |
110,383,734 (GRCm39) |
missense |
|
|
|
Uplifting
|
UTSW |
11 |
110,383,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Map2k6
|
UTSW |
11 |
110,387,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Map2k6
|
UTSW |
11 |
110,390,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0634:Map2k6
|
UTSW |
11 |
110,385,169 (GRCm39) |
nonsense |
probably null |
|
|
R1716:Map2k6
|
UTSW |
11 |
110,388,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Map2k6
|
UTSW |
11 |
110,387,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2279:Map2k6
|
UTSW |
11 |
110,390,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Map2k6
|
UTSW |
11 |
110,390,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Map2k6
|
UTSW |
11 |
110,290,220 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5299:Map2k6
|
UTSW |
11 |
110,383,789 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5761:Map2k6
|
UTSW |
11 |
110,290,197 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5996:Map2k6
|
UTSW |
11 |
110,388,732 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6391:Map2k6
|
UTSW |
11 |
110,381,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6529:Map2k6
|
UTSW |
11 |
110,383,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Map2k6
|
UTSW |
11 |
110,397,540 (GRCm39) |
intron |
probably benign |
|
|
R7345:Map2k6
|
UTSW |
11 |
110,383,734 (GRCm39) |
missense |
|
|
|
R7681:Map2k6
|
UTSW |
11 |
110,388,729 (GRCm39) |
nonsense |
probably null |
|
|
R7980:Map2k6
|
UTSW |
11 |
110,390,210 (GRCm39) |
missense |
|
|
|
R8087:Map2k6
|
UTSW |
11 |
110,381,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8093:Map2k6
|
UTSW |
11 |
110,373,411 (GRCm39) |
missense |
probably benign |
|
|
R8531:Map2k6
|
UTSW |
11 |
110,290,175 (GRCm39) |
start gained |
probably benign |
|
|
R8834:Map2k6
|
UTSW |
11 |
110,383,419 (GRCm39) |
nonsense |
probably null |
|
|
R9028:Map2k6
|
UTSW |
11 |
110,388,799 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation