Incidental Mutation 'R5972:Mapk11'
| ID |
471489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk11
|
| Ensembl Gene |
ENSMUSG00000053137 |
| Gene Name |
mitogen-activated protein kinase 11 |
| Synonyms |
p38beta, Sapk2, Prkm11, P38b |
| MMRRC Submission |
044155-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89026685-89033809 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89028387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 324
(D324E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088823]
[ENSMUST00000088827]
|
| AlphaFold |
Q9WUI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088823
AA Change: D324E
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000086204
Gene: ENSMUSG00000053137
AA Change: D324E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
308 |
1.67e-84 |
SMART |
|
low complexity region
|
313 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088827
|
| SMART Domains |
Protein: ENSMUSP00000086207
Gene: ENSMUSG00000022610
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
27 |
311 |
1.63e-96 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230734
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,649,070 (GRCm39) |
M305K |
probably benign |
Het |
| Accs |
G |
T |
2: 93,669,572 (GRCm39) |
H283N |
probably damaging |
Het |
| Actl6b |
A |
T |
5: 137,564,818 (GRCm39) |
H283L |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,425,583 (GRCm39) |
L32P |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,733,756 (GRCm39) |
I1672T |
probably damaging |
Het |
| Bambi |
T |
A |
18: 3,512,354 (GRCm39) |
V246E |
probably damaging |
Het |
| BC048679 |
A |
G |
7: 81,145,479 (GRCm39) |
L29P |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,711,187 (GRCm39) |
M64V |
probably damaging |
Het |
| Camk4 |
T |
C |
18: 33,240,979 (GRCm39) |
L92P |
probably damaging |
Het |
| Ddx11 |
C |
A |
17: 66,455,085 (GRCm39) |
Q655K |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,844,051 (GRCm39) |
|
probably null |
Het |
| Entrep3 |
T |
A |
3: 89,093,115 (GRCm39) |
V213D |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,791,763 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
A |
13: 74,810,423 (GRCm39) |
|
probably null |
Het |
| Flg |
T |
A |
3: 93,186,849 (GRCm39) |
N100K |
probably benign |
Het |
| Grip2 |
A |
T |
6: 91,784,262 (GRCm39) |
V13E |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,863,108 (GRCm39) |
V520A |
possibly damaging |
Het |
| Impa1 |
A |
G |
3: 10,394,064 (GRCm39) |
M1T |
probably null |
Het |
| Ip6k3 |
T |
C |
17: 27,368,934 (GRCm39) |
T179A |
possibly damaging |
Het |
| Krt87 |
T |
A |
15: 101,385,467 (GRCm39) |
M302L |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,726,267 (GRCm39) |
Y899H |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,020,250 (GRCm39) |
I1145N |
possibly damaging |
Het |
| Melk |
C |
T |
4: 44,351,007 (GRCm39) |
T516I |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,193,723 (GRCm39) |
H130Y |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,662,568 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
T |
C |
9: 49,418,829 (GRCm39) |
T824A |
possibly damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,211 (GRCm39) |
S179G |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 58,985,633 (GRCm39) |
L79Q |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,457,290 (GRCm39) |
M46K |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,491,366 (GRCm39) |
K626E |
probably benign |
Het |
| Pdss2 |
T |
A |
10: 43,174,922 (GRCm39) |
Y143N |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,812 (GRCm39) |
S2433N |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,518,639 (GRCm39) |
T309A |
possibly damaging |
Het |
| Prdm4 |
C |
T |
10: 85,743,365 (GRCm39) |
V297M |
probably damaging |
Het |
| Rab15 |
T |
C |
12: 76,847,377 (GRCm39) |
Y148C |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,664,409 (GRCm39) |
N1627K |
probably damaging |
Het |
| Scn1a |
G |
T |
2: 66,181,454 (GRCm39) |
A23E |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,483,486 (GRCm39) |
I30N |
probably damaging |
Het |
| Sympk |
A |
G |
7: 18,780,749 (GRCm39) |
K751E |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,225,264 (GRCm39) |
P632L |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,498,738 (GRCm39) |
I391T |
probably benign |
Het |
| Vmn2r54 |
G |
A |
7: 12,349,279 (GRCm39) |
P768S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,369,874 (GRCm39) |
C63Y |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,677,483 (GRCm39) |
C2844W |
possibly damaging |
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 |
|
|
IGL02825:Mapk11
|
APN |
15 |
89,030,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTACATGTCTCACTCAGAAACAG -3'
(R):5'- GCATTGGCTATGGTGCTAAGC -3'
Sequencing Primer
(F):5'- CATGTCTCACTCAGAAACAGATATG -3'
(R):5'- TGGCTATGGTGCTAAGCCTCAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation