Incidental Mutation 'R6388:Map3k11'
| ID |
515656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k11
|
| Ensembl Gene |
ENSMUSG00000004054 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 11 |
| Synonyms |
Mlk3, 2610017K16Rik |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5738770-5752893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5740279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 2
(E2G)
|
| 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: E2G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: E2G
| 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 |
0.0864 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
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 |
|
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 |
|
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'- CAATTCAGCCATGGTGAGGC -3'
(R):5'- TAGTTCGTCCTGCCCATTGG -3'
Sequencing Primer
(F):5'- TGGTGCCCTCCTCCAAAAG -3'
(R):5'- CCATTGGGCTCATAGTCGAACAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation