Incidental Mutation 'IGL02581:Map3k11'
| ID |
299341 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map3k11
|
| Ensembl Gene |
ENSMUSG00000004054 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 11 |
| Synonyms |
Mlk3, 2610017K16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
IGL02581
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5738770-5752893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5750834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 684
(M684K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004156]
[ENSMUST00000052448]
|
| AlphaFold |
Q80XI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004156
AA Change: M684K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: M684K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
36 |
N/A |
INTRINSIC |
|
SH3
|
45 |
105 |
6.79e-19 |
SMART |
|
TyrKc
|
118 |
377 |
6.83e-81 |
SMART |
|
coiled coil region
|
398 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052448
|
| SMART Domains |
Protein: ENSMUSP00000051278
Gene: ENSMUSG00000024936
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
67 |
145 |
3.2e-14 |
PFAM |
|
Pfam:Ion_trans_2
|
175 |
261 |
8.8e-12 |
PFAM |
|
| 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 contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted or spontaneous mutation display a pattern of dark red stripes of thin dorsal epithelium during pre-wean development, and necrotic dental pulp has been reported for the spontaneous mutant. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034H15Rik |
A |
G |
1: 191,635,652 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,349,132 (GRCm39) |
|
probably benign |
Het |
| Aga |
T |
C |
8: 53,974,079 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,113 (GRCm39) |
S2P |
possibly damaging |
Het |
| Cstdc5 |
T |
C |
16: 36,179,860 (GRCm39) |
T86A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,845,724 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
A |
G |
16: 22,689,768 (GRCm39) |
N311D |
probably benign |
Het |
| Flg2 |
A |
C |
3: 93,127,199 (GRCm39) |
Q2037P |
unknown |
Het |
| Glyctk |
T |
C |
9: 106,034,980 (GRCm39) |
T29A |
probably benign |
Het |
| Gtf3c1 |
C |
A |
7: 125,245,687 (GRCm39) |
R1672L |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,057,385 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
G |
T |
15: 99,136,052 (GRCm39) |
C683F |
possibly damaging |
Het |
| Lmtk2 |
T |
G |
5: 144,085,166 (GRCm39) |
F213V |
probably damaging |
Het |
| Malrd1 |
C |
A |
2: 16,147,123 (GRCm39) |
C1988* |
probably null |
Het |
| Oga |
T |
A |
19: 45,740,630 (GRCm39) |
M902L |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
C |
12: 79,125,882 (GRCm39) |
|
probably null |
Het |
| Rev3l |
C |
A |
10: 39,697,277 (GRCm39) |
N591K |
probably benign |
Het |
| Rrp9 |
T |
A |
9: 106,360,827 (GRCm39) |
N269K |
probably damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,989,941 (GRCm39) |
I80T |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,328 (GRCm39) |
|
probably null |
Het |
| Tmc8 |
G |
A |
11: 117,674,714 (GRCm39) |
R143H |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,212,193 (GRCm39) |
I1777T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,861,902 (GRCm39) |
Y311* |
probably null |
Het |
| Vps13a |
C |
T |
19: 16,632,686 (GRCm39) |
A2557T |
probably benign |
Het |
| Vps53 |
T |
G |
11: 75,992,883 (GRCm39) |
N106T |
probably damaging |
Het |
|
| Other mutations in Map3k11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02017:Map3k11
|
APN |
19 |
5,747,651 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
pow
|
UTSW |
19 |
5,750,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
yow
|
UTSW |
19 |
5,747,429 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0130:Map3k11
|
UTSW |
19 |
5,740,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Map3k11
|
UTSW |
19 |
5,745,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1621:Map3k11
|
UTSW |
19 |
5,740,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Map3k11
|
UTSW |
19 |
5,747,429 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1791:Map3k11
|
UTSW |
19 |
5,745,600 (GRCm39) |
nonsense |
probably null |
|
|
R3500:Map3k11
|
UTSW |
19 |
5,740,275 (GRCm39) |
start codon destroyed |
probably benign |
0.08 |
|
R3836:Map3k11
|
UTSW |
19 |
5,740,831 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3892:Map3k11
|
UTSW |
19 |
5,752,311 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4303:Map3k11
|
UTSW |
19 |
5,740,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Map3k11
|
UTSW |
19 |
5,752,238 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4613:Map3k11
|
UTSW |
19 |
5,747,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4613:Map3k11
|
UTSW |
19 |
5,747,498 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4631:Map3k11
|
UTSW |
19 |
5,740,941 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4780:Map3k11
|
UTSW |
19 |
5,740,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5213:Map3k11
|
UTSW |
19 |
5,740,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5266:Map3k11
|
UTSW |
19 |
5,750,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5372:Map3k11
|
UTSW |
19 |
5,740,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Map3k11
|
UTSW |
19 |
5,746,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Map3k11
|
UTSW |
19 |
5,745,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6052:Map3k11
|
UTSW |
19 |
5,747,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6388:Map3k11
|
UTSW |
19 |
5,740,279 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6623:Map3k11
|
UTSW |
19 |
5,745,631 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6975:Map3k11
|
UTSW |
19 |
5,740,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7309:Map3k11
|
UTSW |
19 |
5,740,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7771:Map3k11
|
UTSW |
19 |
5,740,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7815:Map3k11
|
UTSW |
19 |
5,745,667 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8988:Map3k11
|
UTSW |
19 |
5,752,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Map3k11
|
UTSW |
19 |
5,746,038 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9502:Map3k11
|
UTSW |
19 |
5,740,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Map3k11
|
UTSW |
19 |
5,746,223 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation