Incidental Mutation 'R4303:Map3k11'
ID |
322519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k11
|
Ensembl Gene |
ENSMUSG00000004054 |
Gene Name |
mitogen-activated protein kinase kinase kinase 11 |
Synonyms |
Mlk3, 2610017K16Rik |
MMRRC Submission |
041090-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R4303 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5738770-5752893 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 5740852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 193
(V193E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004156
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004156]
[ENSMUST00000068169]
[ENSMUST00000113615]
|
AlphaFold |
Q80XI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004156
AA Change: V193E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000004156 Gene: ENSMUSG00000004054 AA Change: V193E
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: ENSMUST00000068169
|
SMART Domains |
Protein: ENSMUSP00000063786 Gene: ENSMUSG00000054874
Domain | Start | End | E-Value | Type |
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
370 |
376 |
N/A |
INTRINSIC |
transmembrane domain
|
385 |
407 |
N/A |
INTRINSIC |
transmembrane domain
|
411 |
428 |
N/A |
INTRINSIC |
transmembrane domain
|
441 |
463 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
501 |
523 |
N/A |
INTRINSIC |
transmembrane domain
|
538 |
560 |
N/A |
INTRINSIC |
transmembrane domain
|
573 |
592 |
N/A |
INTRINSIC |
transmembrane domain
|
645 |
667 |
N/A |
INTRINSIC |
transmembrane domain
|
669 |
691 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
Pfam:Pecanex_C
|
1159 |
1389 |
7.5e-124 |
PFAM |
low complexity region
|
1462 |
1479 |
N/A |
INTRINSIC |
low complexity region
|
1481 |
1510 |
N/A |
INTRINSIC |
low complexity region
|
1525 |
1538 |
N/A |
INTRINSIC |
low complexity region
|
1558 |
1569 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113615
|
SMART Domains |
Protein: ENSMUSP00000109245 Gene: ENSMUSG00000054874
Domain | Start | End | E-Value | Type |
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
438 |
459 |
N/A |
INTRINSIC |
low complexity region
|
778 |
784 |
N/A |
INTRINSIC |
transmembrane domain
|
793 |
815 |
N/A |
INTRINSIC |
transmembrane domain
|
819 |
836 |
N/A |
INTRINSIC |
transmembrane domain
|
849 |
871 |
N/A |
INTRINSIC |
transmembrane domain
|
881 |
900 |
N/A |
INTRINSIC |
transmembrane domain
|
909 |
931 |
N/A |
INTRINSIC |
transmembrane domain
|
946 |
968 |
N/A |
INTRINSIC |
transmembrane domain
|
981 |
1000 |
N/A |
INTRINSIC |
transmembrane domain
|
1053 |
1075 |
N/A |
INTRINSIC |
transmembrane domain
|
1077 |
1099 |
N/A |
INTRINSIC |
low complexity region
|
1419 |
1433 |
N/A |
INTRINSIC |
Pfam:Pecanex_C
|
1570 |
1796 |
5.9e-116 |
PFAM |
low complexity region
|
1870 |
1887 |
N/A |
INTRINSIC |
low complexity region
|
1889 |
1918 |
N/A |
INTRINSIC |
low complexity region
|
1933 |
1946 |
N/A |
INTRINSIC |
low complexity region
|
1966 |
1977 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135119
|
Meta Mutation Damage Score |
0.9175 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (44/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,606,055 (GRCm39) |
S247P |
probably damaging |
Het |
Atg4b |
A |
G |
1: 93,695,984 (GRCm39) |
E41G |
probably benign |
Het |
Bckdk |
T |
C |
7: 127,504,502 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
A |
G |
5: 16,507,246 (GRCm39) |
|
probably null |
Het |
Chaf1a |
A |
G |
17: 56,351,068 (GRCm39) |
D16G |
unknown |
Het |
Defb12 |
A |
G |
8: 19,162,737 (GRCm39) |
I65T |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,787,738 (GRCm39) |
Y3264H |
probably damaging |
Het |
Ehhadh |
C |
A |
16: 21,581,602 (GRCm39) |
K463N |
probably damaging |
Het |
Ehmt2 |
G |
A |
17: 35,127,724 (GRCm39) |
R901Q |
possibly damaging |
Het |
Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,777,069 (GRCm39) |
|
probably null |
Het |
Esp6 |
A |
G |
17: 40,876,035 (GRCm39) |
T28A |
possibly damaging |
Het |
Gm17333 |
A |
C |
16: 77,649,767 (GRCm39) |
|
noncoding transcript |
Het |
Heatr5a |
T |
C |
12: 52,003,008 (GRCm39) |
T165A |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
Ift80 |
A |
G |
3: 68,801,507 (GRCm39) |
I744T |
probably benign |
Het |
Kalrn |
T |
C |
16: 34,055,761 (GRCm39) |
K853E |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,994,239 (GRCm39) |
D279E |
possibly damaging |
Het |
Mrgpra4 |
T |
A |
7: 47,630,684 (GRCm39) |
M306L |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,549,602 (GRCm39) |
T428A |
probably benign |
Het |
Nuggc |
A |
G |
14: 65,848,621 (GRCm39) |
H174R |
possibly damaging |
Het |
Or14c40 |
G |
A |
7: 86,313,163 (GRCm39) |
V98M |
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,667,664 (GRCm39) |
M163K |
possibly damaging |
Het |
Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
Pik3ca |
C |
T |
3: 32,494,084 (GRCm39) |
R349* |
probably null |
Het |
Rfxank |
T |
C |
8: 70,588,862 (GRCm39) |
D89G |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
Serpina1a |
A |
G |
12: 103,820,934 (GRCm39) |
L348P |
probably damaging |
Het |
Shank1 |
A |
G |
7: 43,991,898 (GRCm39) |
Y701C |
unknown |
Het |
Six4 |
G |
T |
12: 73,159,314 (GRCm39) |
D207E |
possibly damaging |
Het |
Slco3a1 |
G |
T |
7: 74,204,276 (GRCm39) |
D21E |
probably benign |
Het |
Sox6 |
C |
T |
7: 115,143,704 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
G |
1: 174,007,418 (GRCm39) |
N216S |
probably damaging |
Het |
Stard13 |
T |
C |
5: 150,986,334 (GRCm39) |
N392S |
possibly damaging |
Het |
Tax1bp1 |
T |
C |
6: 52,704,263 (GRCm39) |
V81A |
possibly damaging |
Het |
Trim29 |
G |
T |
9: 43,222,419 (GRCm39) |
V83L |
probably damaging |
Het |
Vmn1r90 |
C |
T |
7: 14,295,495 (GRCm39) |
W201* |
probably null |
Het |
Wdr31 |
T |
A |
4: 62,378,626 (GRCm39) |
N7I |
probably damaging |
Het |
Ypel4 |
A |
G |
2: 84,567,151 (GRCm39) |
|
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,780,843 (GRCm39) |
K640E |
probably damaging |
Het |
Zfp579 |
A |
G |
7: 4,996,072 (GRCm39) |
|
probably benign |
Het |
Zfp974 |
C |
A |
7: 27,609,657 (GRCm39) |
K689N |
possibly 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTATGTATCTCGGGGTGGAG -3'
(R):5'- ACTCACTGTTGTTGGACTTCAG -3'
Sequencing Primer
(F):5'- TTCGGCAAGGTCTACCGTG -3'
(R):5'- ACTTCAGGTCTCGGTGTATCACAG -3'
|
Posted On |
2015-06-20 |