Incidental Mutation 'IGL01024:Mapk3'
| ID |
53708 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mapk3
|
| Ensembl Gene |
ENSMUSG00000063065 |
| Gene Name |
mitogen-activated protein kinase 3 |
| Synonyms |
p44 MAP kinase, p44erk1, Erk1, Prkm3, Erk-1, Mtap2k, p44mapk, Esrk1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126358798-126364988 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 126363946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 312
(K312*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032944]
[ENSMUST00000050201]
[ENSMUST00000057669]
[ENSMUST00000091328]
|
| AlphaFold |
Q63844 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032944
|
| SMART Domains |
Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
44 |
202 |
1.1e-23 |
PFAM |
|
low complexity region
|
208 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050201
|
| SMART Domains |
Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
S_TKc
|
43 |
331 |
3.3e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000057669
AA Change: K358*
|
| SMART Domains |
Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065
AA Change: K358*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
S_TKc
|
43 |
331 |
3.3e-97 |
SMART |
|
Blast:S_TKc
|
335 |
372 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000091328
AA Change: K243*
|
| SMART Domains |
Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065
AA Change: K243*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
213 |
2.5e-24 |
PFAM |
|
Pfam:Pkinase
|
1 |
216 |
2.2e-58 |
PFAM |
|
Pfam:APH
|
17 |
108 |
7.6e-7 |
PFAM |
|
Blast:S_TKc
|
220 |
257 |
4e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205468
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205657
AA Change: K312*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are hyperactive with impaired T cell maturation and proliferation. Mice homozygous for a knock-out allele on a CD-1 background exhibit normal Mendelian ratios, growth, and no obvious abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,040 (GRCm39) |
V209A |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,087,968 (GRCm39) |
Y1053F |
probably benign |
Het |
| Acot12 |
C |
T |
13: 91,929,330 (GRCm39) |
Q386* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,943,603 (GRCm39) |
V336A |
probably benign |
Het |
| Ankrd49 |
A |
G |
9: 14,694,099 (GRCm39) |
F23L |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,405,862 (GRCm39) |
H1583L |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,939,265 (GRCm39) |
I677V |
probably benign |
Het |
| Brinp1 |
A |
T |
4: 68,680,731 (GRCm39) |
W600R |
probably damaging |
Het |
| Ccdc185 |
T |
C |
1: 182,574,988 (GRCm39) |
E567G |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,539,066 (GRCm39) |
D445G |
probably damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,248 (GRCm39) |
|
probably benign |
Het |
| Gm9376 |
A |
G |
14: 118,504,570 (GRCm39) |
M1V |
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 88,978,719 (GRCm39) |
K40R |
probably damaging |
Het |
| Hdc |
A |
G |
2: 126,445,766 (GRCm39) |
V246A |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,583,793 (GRCm39) |
F479L |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,667,952 (GRCm39) |
N538K |
probably benign |
Het |
| Kif27 |
T |
A |
13: 58,436,015 (GRCm39) |
E1259D |
possibly damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,352,610 (GRCm39) |
N256K |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,645,109 (GRCm39) |
A401T |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,980,762 (GRCm39) |
S365I |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,619,944 (GRCm39) |
K11R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,733,290 (GRCm39) |
I187N |
probably damaging |
Het |
| Nudcd1 |
T |
A |
15: 44,284,222 (GRCm39) |
M55L |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,481 (GRCm39) |
L187Q |
probably damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,716 (GRCm39) |
F220L |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,004,029 (GRCm39) |
S78P |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,123,037 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
G |
A |
14: 30,774,217 (GRCm39) |
R461H |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,741,633 (GRCm39) |
T369K |
probably benign |
Het |
| Ppp1r16b |
C |
T |
2: 158,582,736 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
T |
4: 143,935,045 (GRCm39) |
I232K |
possibly damaging |
Het |
| Prom2 |
T |
C |
2: 127,383,059 (GRCm39) |
N61S |
probably benign |
Het |
| Psmc2 |
T |
C |
5: 22,006,196 (GRCm39) |
|
probably benign |
Het |
| Psme2 |
A |
G |
14: 55,825,893 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,008,650 (GRCm39) |
H655R |
probably damaging |
Het |
| Pxdn |
A |
C |
12: 30,037,098 (GRCm39) |
N292T |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,977,445 (GRCm39) |
I1301V |
probably benign |
Het |
| Rnase11 |
T |
C |
14: 51,287,321 (GRCm39) |
I78V |
probably benign |
Het |
| Rpl41 |
A |
G |
10: 128,384,246 (GRCm39) |
|
probably benign |
Het |
| Sgf29 |
G |
A |
7: 126,264,103 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,819,209 (GRCm39) |
L1449S |
probably damaging |
Het |
| Slc34a2 |
T |
A |
5: 53,224,972 (GRCm39) |
V371D |
possibly damaging |
Het |
| Son |
C |
A |
16: 91,452,798 (GRCm39) |
T515K |
probably damaging |
Het |
| Tbx15 |
A |
T |
3: 99,223,562 (GRCm39) |
D250V |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,669,612 (GRCm39) |
V1378G |
probably benign |
Het |
| Tmem171 |
T |
A |
13: 98,823,026 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
C |
T |
5: 87,228,728 (GRCm39) |
|
probably null |
Het |
| Vill |
G |
A |
9: 118,899,418 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
A |
G |
6: 123,615,012 (GRCm39) |
F193L |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,672,590 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,231,874 (GRCm39) |
V223D |
possibly damaging |
Het |
|
| Other mutations in Mapk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02412:Mapk3
|
APN |
7 |
126,362,210 (GRCm39) |
nonsense |
probably null |
|
|
wabasha
|
UTSW |
7 |
126,362,684 (GRCm39) |
nonsense |
probably null |
|
|
R0078:Mapk3
|
UTSW |
7 |
126,358,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Mapk3
|
UTSW |
7 |
126,362,558 (GRCm39) |
intron |
probably benign |
|
|
R1549:Mapk3
|
UTSW |
7 |
126,362,684 (GRCm39) |
nonsense |
probably null |
|
|
R2913:Mapk3
|
UTSW |
7 |
126,359,978 (GRCm39) |
nonsense |
probably null |
|
|
R5220:Mapk3
|
UTSW |
7 |
126,363,408 (GRCm39) |
missense |
probably benign |
|
|
R5408:Mapk3
|
UTSW |
7 |
126,363,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Mapk3
|
UTSW |
7 |
126,363,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5929:Mapk3
|
UTSW |
7 |
126,359,030 (GRCm39) |
unclassified |
probably benign |
|
|
R6307:Mapk3
|
UTSW |
7 |
126,363,454 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6359:Mapk3
|
UTSW |
7 |
126,359,928 (GRCm39) |
missense |
probably benign |
|
|
R7356:Mapk3
|
UTSW |
7 |
126,360,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7380:Mapk3
|
UTSW |
7 |
126,363,967 (GRCm39) |
missense |
|
|
|
R7384:Mapk3
|
UTSW |
7 |
126,363,463 (GRCm39) |
missense |
|
|
|
R8177:Mapk3
|
UTSW |
7 |
126,362,937 (GRCm39) |
missense |
probably null |
|
|
R9296:Mapk3
|
UTSW |
7 |
126,363,518 (GRCm39) |
missense |
|
|
|
R9362:Mapk3
|
UTSW |
7 |
126,363,444 (GRCm39) |
missense |
|
|
|
X0017:Mapk3
|
UTSW |
7 |
126,363,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation