Incidental Mutation 'R9241:Mapk13'
| ID |
700767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk13
|
| Ensembl Gene |
ENSMUSG00000004864 |
| Gene Name |
mitogen-activated protein kinase 13 |
| Synonyms |
p38 delta MAP kinase, SAPK4, Serk4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R9241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28988260-28997678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28990187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 102
(D102V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004986]
[ENSMUST00000129096]
|
| AlphaFold |
Q9Z1B7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004986
AA Change: D102V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000004986
Gene: ENSMUSG00000004864
AA Change: D102V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
308 |
8.72e-97 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129096
AA Change: D102V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115659
Gene: ENSMUSG00000004864
AA Change: D102V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
25 |
209 |
1.1e-49 |
PFAM |
|
Pfam:Pkinase_Tyr
|
27 |
210 |
2e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (51/52) |
| 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 mitogen-activated protein (MAP) kinase family. MAP kinases 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 encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit improved glucose tolerance, increased insulin secretion, decreased blood glucose, and decreased susceptibility to diet- or chemically-induced diabetes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,937 (GRCm39) |
L390P |
probably damaging |
Het |
| AL732309.1 |
T |
A |
2: 25,135,919 (GRCm39) |
E98D |
possibly damaging |
Het |
| Aldh2 |
T |
C |
5: 121,710,220 (GRCm39) |
I372V |
probably benign |
Het |
| Amph |
G |
T |
13: 19,278,972 (GRCm39) |
R149L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,688,887 (GRCm39) |
V8A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,291,345 (GRCm39) |
V821E |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,743,993 (GRCm39) |
Q1504L |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,301 (GRCm39) |
G158W |
probably damaging |
Het |
| Cryge |
T |
G |
1: 65,088,018 (GRCm39) |
D97A |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,886,058 (GRCm39) |
T594A |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,566 (GRCm39) |
H3892R |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gm9922 |
A |
T |
14: 101,967,220 (GRCm39) |
S11T |
unknown |
Het |
| Hcfc2 |
T |
C |
10: 82,568,485 (GRCm39) |
V43A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 117,793,249 (GRCm39) |
F167S |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,507 (GRCm39) |
I1012M |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,833,313 (GRCm39) |
I603T |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,671,788 (GRCm39) |
M937I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,271,952 (GRCm39) |
D6532G |
probably damaging |
Het |
| Mapt |
A |
T |
11: 104,189,797 (GRCm39) |
T272S |
probably benign |
Het |
| Mfap3 |
A |
G |
11: 57,420,672 (GRCm39) |
T218A |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,653 (GRCm39) |
H2460Q |
possibly damaging |
Het |
| Nalcn |
G |
T |
14: 123,809,429 (GRCm39) |
P241Q |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,822,611 (GRCm39) |
T378A |
possibly damaging |
Het |
| Oprl1 |
C |
T |
2: 181,360,405 (GRCm39) |
R154C |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,781 (GRCm39) |
M40V |
probably benign |
Het |
| Pcdha8 |
C |
T |
18: 37,127,008 (GRCm39) |
R497W |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,017,115 (GRCm39) |
V214A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,204 (GRCm39) |
|
probably null |
Het |
| Pole3 |
A |
G |
4: 62,442,845 (GRCm39) |
|
probably benign |
Het |
| Prkn |
A |
T |
17: 11,456,382 (GRCm39) |
I69L |
probably benign |
Het |
| Psd3 |
G |
T |
8: 68,415,967 (GRCm39) |
N357K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,815,576 (GRCm39) |
D1696V |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,067 (GRCm39) |
R2012Q |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,250 (GRCm39) |
T203A |
probably benign |
Het |
| Scgb1a1 |
T |
C |
19: 9,065,293 (GRCm39) |
|
probably benign |
Het |
| Selplg |
T |
A |
5: 113,957,647 (GRCm39) |
N220Y |
possibly damaging |
Het |
| Septin9 |
C |
A |
11: 117,109,724 (GRCm39) |
R15S |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,550,604 (GRCm39) |
S446A |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,976,209 (GRCm39) |
N833D |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,122 (GRCm39) |
D956E |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,885,420 (GRCm39) |
Y2060* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,010 (GRCm39) |
F21L |
probably benign |
Het |
| Tmem200c |
G |
T |
17: 69,144,161 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
A |
C |
16: 32,488,916 (GRCm39) |
D252A |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,691,558 (GRCm39) |
V299I |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,151,182 (GRCm39) |
N790S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,308,697 (GRCm39) |
T641I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,321,520 (GRCm39) |
Q45L |
probably benign |
Het |
| Zswim9 |
A |
T |
7: 13,003,360 (GRCm39) |
D163E |
probably damaging |
Het |
|
| Other mutations in Mapk13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Mapk13
|
APN |
17 |
28,995,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01918:Mapk13
|
APN |
17 |
28,994,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02265:Mapk13
|
APN |
17 |
28,996,692 (GRCm39) |
splice site |
probably benign |
|
|
IGL02451:Mapk13
|
APN |
17 |
28,995,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02977:Mapk13
|
APN |
17 |
28,995,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Mapk13
|
APN |
17 |
28,996,709 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03188:Mapk13
|
APN |
17 |
28,995,557 (GRCm39) |
intron |
probably benign |
|
|
R0501:Mapk13
|
UTSW |
17 |
28,995,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Mapk13
|
UTSW |
17 |
28,994,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Mapk13
|
UTSW |
17 |
28,997,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4368:Mapk13
|
UTSW |
17 |
28,996,539 (GRCm39) |
splice site |
probably null |
|
|
R4613:Mapk13
|
UTSW |
17 |
28,988,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Mapk13
|
UTSW |
17 |
28,997,461 (GRCm39) |
nonsense |
probably null |
|
|
R4684:Mapk13
|
UTSW |
17 |
28,989,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Mapk13
|
UTSW |
17 |
28,994,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Mapk13
|
UTSW |
17 |
28,995,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Mapk13
|
UTSW |
17 |
28,997,197 (GRCm39) |
missense |
probably benign |
|
|
R5220:Mapk13
|
UTSW |
17 |
28,997,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5247:Mapk13
|
UTSW |
17 |
28,996,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5370:Mapk13
|
UTSW |
17 |
28,995,326 (GRCm39) |
nonsense |
probably null |
|
|
R6838:Mapk13
|
UTSW |
17 |
28,996,535 (GRCm39) |
splice site |
probably null |
|
|
R6843:Mapk13
|
UTSW |
17 |
28,994,427 (GRCm39) |
splice site |
probably null |
|
|
R7187:Mapk13
|
UTSW |
17 |
28,995,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Mapk13
|
UTSW |
17 |
28,996,760 (GRCm39) |
missense |
probably benign |
|
|
R9227:Mapk13
|
UTSW |
17 |
28,994,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Mapk13
|
UTSW |
17 |
28,994,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Mapk13
|
UTSW |
17 |
28,988,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Mapk13
|
UTSW |
17 |
28,988,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Mapk13
|
UTSW |
17 |
28,997,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mapk13
|
UTSW |
17 |
28,996,507 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGTTCCCATGCCAGCTG -3'
(R):5'- GCCAGGGTCTGATAACAAGG -3'
Sequencing Primer
(F):5'- TGGGGCCACCTTCCGTAG -3'
(R):5'- GCAGGTACCCTACAGCCCTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation