Incidental Mutation 'R0021:Map2k4'
| ID |
8361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2k4
|
| Ensembl Gene |
ENSMUSG00000033352 |
| Gene Name |
mitogen-activated protein kinase kinase 4 |
| Synonyms |
Serk1, Sek1, JNKK1, MKK4 |
| MMRRC Submission |
038316-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0021 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
65579069-65679123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65603110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 174
(I174T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046963]
[ENSMUST00000125598]
[ENSMUST00000130009]
[ENSMUST00000140301]
[ENSMUST00000152096]
|
| AlphaFold |
P47809 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046963
AA Change: I174T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: I174T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
S_TKc
|
100 |
365 |
9.38e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125598
|
| SMART Domains |
Protein: ENSMUSP00000137656
Gene: ENSMUSG00000033352
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
34 |
128 |
8.4e-27 |
PFAM |
|
Pfam:Kinase-like
|
36 |
128 |
8.9e-8 |
PFAM |
|
Pfam:Pkinase_Tyr
|
37 |
129 |
6.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130009
|
| SMART Domains |
Protein: ENSMUSP00000137819
Gene: ENSMUSG00000033352
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140301
|
| SMART Domains |
Protein: ENSMUSP00000137955
Gene: ENSMUSG00000033352
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152096
AA Change: I185T
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114219
Gene: ENSMUSG00000033352
AA Change: I185T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
111 |
202 |
2.5e-9 |
PFAM |
|
Pfam:Pkinase
|
111 |
204 |
1e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.9136 |
| Coding Region Coverage |
- 1x: 84.2%
- 3x: 78.9%
- 10x: 65.7%
- 20x: 50.3%
|
| Validation Efficiency |
96% (92/96) |
| 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 kinase (MAPK) family. Members of this family 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. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal liver development with a deficiency of parenchymal hepatocytes, severe anemia, and lethality before embryonic day 14.0. [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 |
|---|
| 2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,462,643 (GRCm39) |
E1105G |
probably damaging |
Het |
| Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| Ccr6 |
G |
A |
17: 8,475,598 (GRCm39) |
V268M |
possibly damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,314,830 (GRCm39) |
T626A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
| Duxf4 |
C |
A |
10: 58,071,385 (GRCm39) |
E276D |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,830,201 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,870,453 (GRCm39) |
D94V |
possibly damaging |
Het |
| Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,369,370 (GRCm39) |
H232R |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,413,997 (GRCm39) |
T1099I |
possibly damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
| Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
| Prss52 |
T |
G |
14: 64,341,857 (GRCm39) |
V16G |
probably benign |
Het |
| Psmb9 |
G |
A |
17: 34,403,277 (GRCm39) |
A80V |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,500,859 (GRCm39) |
V7A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
| Setd6 |
A |
G |
8: 96,443,293 (GRCm39) |
K19E |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
| Slc27a2 |
T |
C |
2: 126,409,806 (GRCm39) |
|
probably benign |
Het |
| Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
| Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
| Wrap53 |
A |
T |
11: 69,454,712 (GRCm39) |
M219K |
probably damaging |
Het |
| Zfp790 |
G |
A |
7: 29,525,113 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Map2k4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Map2k4
|
APN |
11 |
65,610,305 (GRCm39) |
splice site |
probably benign |
|
|
IGL01318:Map2k4
|
APN |
11 |
65,647,089 (GRCm39) |
splice site |
probably benign |
|
|
IGL02500:Map2k4
|
APN |
11 |
65,587,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02628:Map2k4
|
APN |
11 |
65,581,567 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02873:Map2k4
|
APN |
11 |
65,610,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03124:Map2k4
|
APN |
11 |
65,581,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0021:Map2k4
|
UTSW |
11 |
65,603,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Map2k4
|
UTSW |
11 |
65,610,437 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Map2k4
|
UTSW |
11 |
65,610,437 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Map2k4
|
UTSW |
11 |
65,603,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Map2k4
|
UTSW |
11 |
65,584,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2931:Map2k4
|
UTSW |
11 |
65,647,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3800:Map2k4
|
UTSW |
11 |
65,581,607 (GRCm39) |
nonsense |
probably null |
|
|
R4820:Map2k4
|
UTSW |
11 |
65,587,201 (GRCm39) |
splice site |
probably benign |
|
|
R4913:Map2k4
|
UTSW |
11 |
65,600,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Map2k4
|
UTSW |
11 |
65,610,413 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5497:Map2k4
|
UTSW |
11 |
65,626,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Map2k4
|
UTSW |
11 |
65,626,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Map2k4
|
UTSW |
11 |
65,600,778 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6282:Map2k4
|
UTSW |
11 |
65,597,842 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6505:Map2k4
|
UTSW |
11 |
65,584,355 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6784:Map2k4
|
UTSW |
11 |
65,582,577 (GRCm39) |
unclassified |
probably benign |
|
|
R7560:Map2k4
|
UTSW |
11 |
65,666,583 (GRCm39) |
missense |
unknown |
|
|
R8071:Map2k4
|
UTSW |
11 |
65,597,827 (GRCm39) |
missense |
|
|
|
R9092:Map2k4
|
UTSW |
11 |
65,581,599 (GRCm39) |
missense |
probably benign |
|
|
R9342:Map2k4
|
UTSW |
11 |
65,581,569 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-11-27 |
Incidental Mutation