Incidental Mutation 'R5266:Map3k11'
ID |
401733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k11
|
Ensembl Gene |
ENSMUSG00000004054 |
Gene Name |
mitogen-activated protein kinase kinase kinase 11 |
Synonyms |
Mlk3, 2610017K16Rik |
MMRRC Submission |
042858-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R5266 (G1)
|
Quality Score |
179 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5738770-5752893 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 5750622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 613
(N613K)
|
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: N613K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000004156 Gene: ENSMUSG00000004054 AA Change: N613K
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
97% (56/58) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
C |
18: 70,591,455 (GRCm39) |
N457S |
probably damaging |
Het |
Asic4 |
G |
A |
1: 75,427,567 (GRCm39) |
G31E |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,866,223 (GRCm39) |
D281G |
probably damaging |
Het |
Azin1 |
T |
C |
15: 38,491,795 (GRCm39) |
D387G |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,204,043 (GRCm39) |
M660V |
probably benign |
Het |
Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
Cfap54 |
T |
G |
10: 92,651,764 (GRCm39) |
K3095N |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,677,504 (GRCm39) |
N706S |
probably damaging |
Het |
Crym |
A |
G |
7: 119,798,517 (GRCm39) |
V113A |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,341,548 (GRCm39) |
S607P |
probably damaging |
Het |
Cyp3a44 |
T |
C |
5: 145,731,207 (GRCm39) |
N198D |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Elac1 |
A |
G |
18: 73,875,740 (GRCm39) |
V97A |
probably benign |
Het |
Erbb3 |
G |
A |
10: 128,405,505 (GRCm39) |
T1251M |
probably damaging |
Het |
Gask1b |
T |
A |
3: 79,843,910 (GRCm39) |
N12K |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,061,416 (GRCm39) |
H316R |
possibly damaging |
Het |
Ikzf3 |
A |
T |
11: 98,381,406 (GRCm39) |
M58K |
probably benign |
Het |
Lyst |
T |
C |
13: 13,835,555 (GRCm39) |
Y1746H |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mrm1 |
A |
T |
11: 84,710,086 (GRCm39) |
L38Q |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
Ndst2 |
G |
A |
14: 20,774,555 (GRCm39) |
R834W |
probably damaging |
Het |
Opa1 |
T |
A |
16: 29,436,948 (GRCm39) |
I637N |
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,203,026 (GRCm39) |
Q300L |
probably benign |
Het |
Or5d43 |
T |
C |
2: 88,104,565 (GRCm39) |
Y276C |
possibly damaging |
Het |
Padi4 |
A |
G |
4: 140,473,442 (GRCm39) |
V665A |
possibly damaging |
Het |
Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,663,190 (GRCm39) |
D345G |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,740,918 (GRCm39) |
M366V |
possibly damaging |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Pon3 |
T |
C |
6: 5,240,860 (GRCm39) |
D34G |
possibly damaging |
Het |
Ppargc1b |
A |
T |
18: 61,448,876 (GRCm39) |
S133T |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,123,309 (GRCm39) |
S2P |
possibly damaging |
Het |
Rbm20 |
A |
G |
19: 53,801,818 (GRCm39) |
T109A |
probably damaging |
Het |
Rexo5 |
C |
A |
7: 119,443,660 (GRCm39) |
H690Q |
probably benign |
Het |
Scube2 |
C |
T |
7: 109,408,437 (GRCm39) |
G670D |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,218,865 (GRCm39) |
I157M |
probably damaging |
Het |
Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Stk36 |
T |
C |
1: 74,650,317 (GRCm39) |
V283A |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,673 (GRCm39) |
|
probably benign |
Het |
Tecpr2 |
G |
C |
12: 110,881,836 (GRCm39) |
W135S |
probably damaging |
Het |
Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
Ttc39a |
A |
T |
4: 109,279,701 (GRCm39) |
I112F |
probably benign |
Het |
Vmn1r128 |
A |
T |
7: 21,083,328 (GRCm39) |
T11S |
probably benign |
Het |
Vnn1 |
G |
A |
10: 23,779,303 (GRCm39) |
C404Y |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,131,759 (GRCm39) |
F57L |
probably damaging |
Het |
Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
Zfp985 |
A |
T |
4: 147,667,289 (GRCm39) |
|
probably null |
Het |
Zfpm2 |
T |
C |
15: 40,962,865 (GRCm39) |
S176P |
probably benign |
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 |
IGL02581:Map3k11
|
APN |
19 |
5,750,834 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCATTGCTCCTGACAGTTGC -3'
(R):5'- GTGAACTATGGGCATCAGGTG -3'
Sequencing Primer
(F):5'- CCCTTCTGTTTAAAGGCAGAATGCG -3'
(R):5'- GCAGGGTGAGGGCATCTG -3'
|
Posted On |
2016-07-06 |