Incidental Mutation 'IGL00422:Map3k10'
| ID |
5292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map3k10
|
| Ensembl Gene |
ENSMUSG00000040390 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 10 |
| Synonyms |
Mlk2, mixed lineage kinase 2, MKN28 derived nonreceptor_type, MKN28 kinase, serine/threonine kinase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
27355800-27374023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27367894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 248
(D248G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036453]
[ENSMUST00000108341]
[ENSMUST00000138243]
|
| AlphaFold |
Q66L42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036453
AA Change: D248G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: D248G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
SH3
|
19 |
80 |
6e-20 |
SMART |
|
Pfam:Pkinase
|
98 |
357 |
7.4e-59 |
PFAM |
|
Pfam:Pkinase_Tyr
|
98 |
357 |
3.8e-62 |
PFAM |
|
coiled coil region
|
378 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108341
AA Change: D248G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: D248G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
SH3
|
19 |
80 |
6e-20 |
SMART |
|
Pfam:Pkinase_Tyr
|
98 |
357 |
2e-62 |
PFAM |
|
Pfam:Pkinase
|
98 |
358 |
4.8e-59 |
PFAM |
|
coiled coil region
|
378 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133551
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138243
AA Change: D248G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152032
|
| 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 serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit normal development, reproduction and lifespan. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
| Other mutations in Map3k10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Map3k10
|
APN |
7 |
27,361,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00913:Map3k10
|
APN |
7 |
27,362,640 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01383:Map3k10
|
APN |
7 |
27,357,424 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02683:Map3k10
|
APN |
7 |
27,358,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Map3k10
|
UTSW |
7 |
27,357,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0219:Map3k10
|
UTSW |
7 |
27,356,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Map3k10
|
UTSW |
7 |
27,373,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Map3k10
|
UTSW |
7 |
27,362,785 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0724:Map3k10
|
UTSW |
7 |
27,367,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Map3k10
|
UTSW |
7 |
27,360,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Map3k10
|
UTSW |
7 |
27,357,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Map3k10
|
UTSW |
7 |
27,360,981 (GRCm39) |
splice site |
probably null |
|
|
R2395:Map3k10
|
UTSW |
7 |
27,373,418 (GRCm39) |
missense |
unknown |
|
|
R2517:Map3k10
|
UTSW |
7 |
27,362,688 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3841:Map3k10
|
UTSW |
7 |
27,357,789 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4749:Map3k10
|
UTSW |
7 |
27,357,786 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5269:Map3k10
|
UTSW |
7 |
27,357,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5822:Map3k10
|
UTSW |
7 |
27,356,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Map3k10
|
UTSW |
7 |
27,356,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6417:Map3k10
|
UTSW |
7 |
27,362,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6420:Map3k10
|
UTSW |
7 |
27,362,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Map3k10
|
UTSW |
7 |
27,357,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8118:Map3k10
|
UTSW |
7 |
27,372,842 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8191:Map3k10
|
UTSW |
7 |
27,362,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8336:Map3k10
|
UTSW |
7 |
27,372,884 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8697:Map3k10
|
UTSW |
7 |
27,362,784 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8699:Map3k10
|
UTSW |
7 |
27,367,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9237:Map3k10
|
UTSW |
7 |
27,357,842 (GRCm39) |
nonsense |
probably null |
|
|
R9526:Map3k10
|
UTSW |
7 |
27,364,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Map3k10
|
UTSW |
7 |
27,363,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation