Incidental Mutation 'IGL02825:Mapk11'
ID |
361160 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mapk11
|
Ensembl Gene |
ENSMUSG00000053137 |
Gene Name |
mitogen-activated protein kinase 11 |
Synonyms |
p38beta, Sapk2, Prkm11, P38b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02825
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89026685-89033809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89030585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 103
(Y103H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088823]
|
AlphaFold |
Q9WUI1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088823
AA Change: Y103H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086204 Gene: ENSMUSG00000053137 AA Change: Y103H
Domain | Start | End | E-Value | Type |
S_TKc
|
24 |
308 |
1.67e-84 |
SMART |
low complexity region
|
313 |
325 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230734
|
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 a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abo |
A |
G |
2: 26,733,710 (GRCm39) |
V163A |
possibly damaging |
Het |
Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
B3gnt4 |
T |
C |
5: 123,649,114 (GRCm39) |
F160L |
possibly damaging |
Het |
Brd3 |
T |
C |
2: 27,339,275 (GRCm39) |
E685G |
probably damaging |
Het |
Cacna2d2 |
C |
T |
9: 107,401,659 (GRCm39) |
R746C |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Chl1 |
T |
A |
6: 103,645,764 (GRCm39) |
V268E |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,303,889 (GRCm39) |
I392F |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,625,101 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
T |
C |
9: 6,955,901 (GRCm39) |
|
probably benign |
Het |
Edc4 |
T |
C |
8: 106,617,243 (GRCm39) |
S1021P |
probably damaging |
Het |
Exoc7 |
A |
C |
11: 116,188,411 (GRCm39) |
L296R |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 92,015,068 (GRCm39) |
|
probably null |
Het |
Gm28042 |
T |
A |
2: 119,862,125 (GRCm39) |
M232K |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,750,494 (GRCm39) |
S888T |
probably benign |
Het |
Kirrel1 |
A |
T |
3: 86,996,595 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,378,474 (GRCm39) |
R4037Q |
probably damaging |
Het |
Lrrc37 |
G |
A |
11: 103,507,894 (GRCm39) |
|
probably benign |
Het |
Lrrn3 |
A |
T |
12: 41,502,592 (GRCm39) |
V575D |
probably damaging |
Het |
Mrpl19 |
G |
T |
6: 81,942,796 (GRCm39) |
T38K |
probably benign |
Het |
Nefl |
A |
T |
14: 68,321,795 (GRCm39) |
K128N |
possibly damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,090 (GRCm39) |
N242D |
probably damaging |
Het |
Oprd1 |
T |
A |
4: 131,844,670 (GRCm39) |
T113S |
probably damaging |
Het |
Or10d1 |
A |
T |
9: 39,483,877 (GRCm39) |
I226N |
probably damaging |
Het |
Or52s19 |
T |
C |
7: 103,007,568 (GRCm39) |
I278V |
probably benign |
Het |
Pds5b |
C |
T |
5: 150,652,435 (GRCm39) |
T234I |
possibly damaging |
Het |
Prpf3 |
A |
T |
3: 95,760,792 (GRCm39) |
C37S |
probably damaging |
Het |
Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
Rph3a |
T |
C |
5: 121,083,509 (GRCm39) |
K587R |
possibly damaging |
Het |
Scn3b |
T |
C |
9: 40,188,441 (GRCm39) |
C5R |
probably damaging |
Het |
Sirpa |
C |
T |
2: 129,457,372 (GRCm39) |
P149S |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,864,343 (GRCm39) |
C486S |
probably damaging |
Het |
Spin1 |
C |
A |
13: 51,277,332 (GRCm39) |
|
probably benign |
Het |
Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
Tom1 |
A |
G |
8: 75,783,883 (GRCm39) |
D64G |
probably damaging |
Het |
Trbv4 |
T |
A |
6: 41,036,613 (GRCm39) |
L46Q |
probably damaging |
Het |
Trhr |
A |
T |
15: 44,092,921 (GRCm39) |
D386V |
possibly damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,810,132 (GRCm39) |
I306N |
probably benign |
Het |
Vmn2r51 |
C |
T |
7: 9,832,046 (GRCm39) |
|
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,576,274 (GRCm39) |
|
probably null |
Het |
Zfp277 |
T |
C |
12: 40,367,175 (GRCm39) |
K494E |
probably benign |
Het |
Zranb3 |
A |
T |
1: 127,887,489 (GRCm39) |
S979R |
probably benign |
Het |
|
Other mutations in Mapk11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01744:Mapk11
|
APN |
15 |
89,031,046 (GRCm39) |
splice site |
probably benign |
|
IGL02164:Mapk11
|
APN |
15 |
89,029,651 (GRCm39) |
critical splice acceptor site |
probably null |
|
E0370:Mapk11
|
UTSW |
15 |
89,030,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Mapk11
|
UTSW |
15 |
89,028,594 (GRCm39) |
critical splice donor site |
probably null |
|
R2158:Mapk11
|
UTSW |
15 |
89,030,575 (GRCm39) |
missense |
probably damaging |
0.98 |
R3149:Mapk11
|
UTSW |
15 |
89,029,653 (GRCm39) |
splice site |
probably null |
|
R3150:Mapk11
|
UTSW |
15 |
89,029,653 (GRCm39) |
splice site |
probably null |
|
R3730:Mapk11
|
UTSW |
15 |
89,029,318 (GRCm39) |
missense |
probably benign |
0.27 |
R4319:Mapk11
|
UTSW |
15 |
89,030,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R4424:Mapk11
|
UTSW |
15 |
89,029,576 (GRCm39) |
critical splice donor site |
probably null |
|
R4632:Mapk11
|
UTSW |
15 |
89,030,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R4783:Mapk11
|
UTSW |
15 |
89,033,691 (GRCm39) |
missense |
probably damaging |
0.98 |
R4937:Mapk11
|
UTSW |
15 |
89,030,685 (GRCm39) |
missense |
probably benign |
|
R5422:Mapk11
|
UTSW |
15 |
89,030,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5511:Mapk11
|
UTSW |
15 |
89,029,380 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5914:Mapk11
|
UTSW |
15 |
89,030,038 (GRCm39) |
missense |
probably benign |
0.21 |
R5972:Mapk11
|
UTSW |
15 |
89,028,387 (GRCm39) |
missense |
probably benign |
0.34 |
R7290:Mapk11
|
UTSW |
15 |
89,028,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R8244:Mapk11
|
UTSW |
15 |
89,030,007 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8974:Mapk11
|
UTSW |
15 |
89,028,014 (GRCm39) |
missense |
probably benign |
0.00 |
R9276:Mapk11
|
UTSW |
15 |
89,029,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R9432:Mapk11
|
UTSW |
15 |
89,028,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-12-18 |