Incidental Mutation 'IGL02017:Map3k11'
| ID |
183793 |
| 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 # |
IGL02017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5738770-5752893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5747651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 603
(S603F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004156]
|
| AlphaFold |
Q80XI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004156
AA Change: S603F
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: S603F
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,271,775 (GRCm39) |
I544N |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,998,366 (GRCm39) |
T271A |
probably benign |
Het |
| Aox3 |
A |
C |
1: 58,160,151 (GRCm39) |
K111N |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,621,237 (GRCm39) |
R455C |
probably damaging |
Het |
| Brcc3 |
A |
G |
X: 74,466,389 (GRCm39) |
D67G |
possibly damaging |
Het |
| Crot |
T |
G |
5: 9,020,046 (GRCm39) |
|
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,754,950 (GRCm39) |
D142V |
probably damaging |
Het |
| Dusp5 |
A |
G |
19: 53,525,937 (GRCm39) |
H193R |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,176,193 (GRCm39) |
R644* |
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,852 (GRCm39) |
S190P |
probably benign |
Het |
| Fam3c |
A |
G |
6: 22,343,276 (GRCm39) |
M1T |
probably null |
Het |
| Kif4 |
A |
G |
X: 99,681,960 (GRCm39) |
N197S |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,724,939 (GRCm39) |
N224D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,071,720 (GRCm39) |
H869R |
probably benign |
Het |
| Lrrc14 |
G |
T |
15: 76,597,942 (GRCm39) |
R224L |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,393,724 (GRCm39) |
D864G |
probably damaging |
Het |
| Mxra7 |
A |
G |
11: 116,702,747 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
A |
18: 74,850,070 (GRCm39) |
D1139E |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,376,697 (GRCm39) |
Y228C |
probably damaging |
Het |
| Nxph1 |
T |
C |
6: 9,247,743 (GRCm39) |
I238T |
probably damaging |
Het |
| Or2r11 |
T |
C |
6: 42,437,758 (GRCm39) |
H65R |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,310 (GRCm39) |
L222P |
probably damaging |
Het |
| Or9i1 |
T |
A |
19: 13,839,595 (GRCm39) |
V146E |
possibly damaging |
Het |
| Pdpn |
A |
G |
4: 142,997,140 (GRCm39) |
|
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,626,623 (GRCm39) |
T329A |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,709,449 (GRCm39) |
D8G |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,631,239 (GRCm39) |
D16G |
possibly damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,442,902 (GRCm39) |
R16C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Vmn1r18 |
G |
A |
6: 57,366,741 (GRCm39) |
A271V |
probably benign |
Het |
|
| Other mutations in Map3k11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation