Incidental Mutation 'R0056:Mapk6'
| ID |
16905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk6
|
| Ensembl Gene |
ENSMUSG00000042688 |
| Gene Name |
mitogen-activated protein kinase 6 |
| Synonyms |
Prkm6, 2610021I23Rik, Prkm4, Erk3, D130053K17Rik, Mapk4, Mapk63, ERK3 |
| MMRRC Submission |
038350-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.550)
|
| Stock # |
R0056 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
75294064-75317303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75296098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 467
(Y467H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049355]
[ENSMUST00000168937]
|
| AlphaFold |
Q61532 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049355
AA Change: Y467H
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040315
Gene: ENSMUSG00000042688
AA Change: Y467H
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
316 |
8.02e-87 |
SMART |
|
low complexity region
|
647 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168937
AA Change: Y467H
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129024
Gene: ENSMUSG00000042688
AA Change: Y467H
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
316 |
8.02e-87 |
SMART |
|
low complexity region
|
647 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174034
|
| Meta Mutation Damage Score |
0.1794 |
| Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.7%
- 20x: 65.9%
|
| Validation Efficiency |
89% (66/74) |
| 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 Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show limited fetal growth, reduced serum IGF2 levels, pulmonary hypoplasia and early neonatal death. About 40% of newborns die of acute respiratory failure exhibiting delayed lung maturation, reduced sacculation, atelectasis, and impaired type II pneumocyte differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,540 (GRCm39) |
C561* |
probably null |
Het |
| Ankfn1 |
A |
G |
11: 89,282,502 (GRCm39) |
S1061P |
possibly damaging |
Het |
| Atp9b |
A |
G |
18: 80,809,018 (GRCm39) |
S634P |
probably damaging |
Het |
| Bche |
A |
T |
3: 73,608,654 (GRCm39) |
N257K |
possibly damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,190 (GRCm39) |
D449E |
probably benign |
Het |
| C630050I24Rik |
G |
T |
8: 107,846,026 (GRCm39) |
V59F |
unknown |
Het |
| Camkk2 |
C |
T |
5: 122,880,261 (GRCm39) |
E452K |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,118 (GRCm39) |
Y278C |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,660,165 (GRCm39) |
H375R |
possibly damaging |
Het |
| Entpd7 |
T |
A |
19: 43,713,733 (GRCm39) |
V364E |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,560,392 (GRCm39) |
D313V |
probably damaging |
Het |
| Etv6 |
G |
T |
6: 134,225,497 (GRCm39) |
E154* |
probably null |
Het |
| Fshr |
T |
G |
17: 89,295,885 (GRCm39) |
H274P |
probably damaging |
Het |
| G3bp1 |
A |
G |
11: 55,388,867 (GRCm39) |
N360D |
probably benign |
Het |
| Gdf11 |
C |
T |
10: 128,722,294 (GRCm39) |
R187H |
probably benign |
Het |
| Gpihbp1 |
T |
A |
15: 75,468,982 (GRCm39) |
I52N |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,923,934 (GRCm39) |
|
probably benign |
Het |
| Htt |
T |
C |
5: 34,983,422 (GRCm39) |
|
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,480,014 (GRCm39) |
Q324R |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,895,185 (GRCm39) |
L427P |
probably damaging |
Het |
| Klk7 |
T |
C |
7: 43,461,434 (GRCm39) |
L17P |
possibly damaging |
Het |
| Klrd1 |
G |
A |
6: 129,570,738 (GRCm39) |
V50I |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,828,899 (GRCm39) |
|
probably benign |
Het |
| Lamtor3 |
T |
A |
3: 137,632,711 (GRCm39) |
|
probably benign |
Het |
| Lyplal1 |
G |
A |
1: 185,820,763 (GRCm39) |
T228I |
probably benign |
Het |
| Marchf6 |
T |
C |
15: 31,467,880 (GRCm39) |
T776A |
possibly damaging |
Het |
| Mogat1 |
T |
G |
1: 78,500,407 (GRCm39) |
M157R |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,733 (GRCm39) |
Q13L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,468,273 (GRCm39) |
T356I |
probably damaging |
Het |
| Ncoa2 |
C |
A |
1: 117,516,497 (GRCm38) |
|
probably null |
Het |
| Nobox |
A |
G |
6: 43,281,853 (GRCm39) |
C407R |
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,476,924 (GRCm39) |
|
probably null |
Het |
| Or56a4 |
A |
G |
7: 104,806,329 (GRCm39) |
S187P |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,730,570 (GRCm39) |
Y590C |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,284,658 (GRCm39) |
V1070E |
unknown |
Het |
| Pglyrp3 |
G |
T |
3: 91,933,111 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,363,063 (GRCm39) |
F189S |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,482,382 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,924 (GRCm39) |
T3047S |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,491,550 (GRCm39) |
W847R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,475,043 (GRCm39) |
Y454H |
possibly damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,050 (GRCm39) |
N923K |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,055 (GRCm39) |
H2534R |
probably benign |
Het |
| Ticam2 |
G |
T |
18: 46,693,401 (GRCm39) |
Q229K |
possibly damaging |
Het |
| Tnfaip3 |
A |
T |
10: 18,881,041 (GRCm39) |
V342E |
probably damaging |
Het |
| Traf6 |
A |
G |
2: 101,527,496 (GRCm39) |
I415M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,334 (GRCm39) |
D1062G |
probably damaging |
Het |
| Wdr59 |
C |
T |
8: 112,207,239 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mapk6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Mapk6
|
APN |
9 |
75,296,072 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01843:Mapk6
|
APN |
9 |
75,297,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Mapk6
|
APN |
9 |
75,305,084 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4651001:Mapk6
|
UTSW |
9 |
75,304,869 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0056:Mapk6
|
UTSW |
9 |
75,296,098 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0659:Mapk6
|
UTSW |
9 |
75,305,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1673:Mapk6
|
UTSW |
9 |
75,302,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Mapk6
|
UTSW |
9 |
75,305,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Mapk6
|
UTSW |
9 |
75,295,714 (GRCm39) |
missense |
probably benign |
|
|
R5117:Mapk6
|
UTSW |
9 |
75,305,017 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5190:Mapk6
|
UTSW |
9 |
75,295,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Mapk6
|
UTSW |
9 |
75,300,598 (GRCm39) |
intron |
probably benign |
|
|
R5579:Mapk6
|
UTSW |
9 |
75,295,344 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6792:Mapk6
|
UTSW |
9 |
75,302,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Mapk6
|
UTSW |
9 |
75,304,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Mapk6
|
UTSW |
9 |
75,305,252 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9775:Mapk6
|
UTSW |
9 |
75,295,668 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
RF013:Mapk6
|
UTSW |
9 |
75,295,542 (GRCm39) |
frame shift |
probably null |
|
|
RF044:Mapk6
|
UTSW |
9 |
75,295,542 (GRCm39) |
frame shift |
probably null |
|
|
RF057:Mapk6
|
UTSW |
9 |
75,295,540 (GRCm39) |
frame shift |
probably null |
|
|
X0025:Mapk6
|
UTSW |
9 |
75,302,790 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation