Incidental Mutation 'R7400:Map3k13'
ID |
574129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k13
|
Ensembl Gene |
ENSMUSG00000033618 |
Gene Name |
mitogen-activated protein kinase kinase kinase 13 |
Synonyms |
C130026N12Rik |
MMRRC Submission |
045482-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7400 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 21741072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 800
(R800W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
AlphaFold |
Q1HKZ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042065
AA Change: R800W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047388 Gene: ENSMUSG00000033618 AA Change: R800W
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
167 |
406 |
3.1e-60 |
PFAM |
Pfam:Pkinase_Tyr
|
167 |
406 |
2.4e-65 |
PFAM |
coiled coil region
|
456 |
502 |
N/A |
INTRINSIC |
low complexity region
|
578 |
599 |
N/A |
INTRINSIC |
low complexity region
|
632 |
649 |
N/A |
INTRINSIC |
low complexity region
|
805 |
821 |
N/A |
INTRINSIC |
low complexity region
|
833 |
843 |
N/A |
INTRINSIC |
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231988
AA Change: R800W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232240
AA Change: R800W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (69/71) |
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 serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,496,547 (GRCm39) |
S118P |
unknown |
Het |
Ahnak |
T |
A |
19: 8,991,977 (GRCm39) |
D4420E |
probably damaging |
Het |
Atp5mc2 |
C |
T |
15: 102,573,547 (GRCm39) |
A90T |
possibly damaging |
Het |
Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
Cd48 |
G |
A |
1: 171,523,493 (GRCm39) |
R112H |
probably benign |
Het |
Cdh8 |
A |
T |
8: 100,006,192 (GRCm39) |
Y132N |
probably damaging |
Het |
Cfap70 |
A |
C |
14: 20,458,335 (GRCm39) |
S793A |
probably benign |
Het |
Cmip |
A |
G |
8: 117,984,144 (GRCm39) |
|
probably null |
Het |
Cyp1a2 |
T |
C |
9: 57,589,223 (GRCm39) |
N197S |
probably benign |
Het |
Diaph1 |
T |
C |
18: 37,987,555 (GRCm39) |
D1067G |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,622,367 (GRCm39) |
L1033P |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,713,103 (GRCm39) |
A1981D |
possibly damaging |
Het |
Eci3 |
T |
C |
13: 35,143,960 (GRCm39) |
D55G |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,831,432 (GRCm39) |
D174E |
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,684,581 (GRCm39) |
E406G |
possibly damaging |
Het |
Erich3 |
A |
G |
3: 154,468,214 (GRCm39) |
K889E |
|
Het |
Fat4 |
C |
A |
3: 38,942,073 (GRCm39) |
T322K |
probably damaging |
Het |
Fitm1 |
A |
T |
14: 55,814,226 (GRCm39) |
I241F |
possibly damaging |
Het |
Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
Gpsm2 |
T |
A |
3: 108,587,004 (GRCm39) |
D644V |
probably damaging |
Het |
Gucy2d |
C |
A |
7: 98,092,847 (GRCm39) |
L75M |
possibly damaging |
Het |
Gvin2 |
T |
A |
7: 105,551,247 (GRCm39) |
I602F |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,550,181 (GRCm39) |
I2668V |
probably damaging |
Het |
Hoxa7 |
A |
G |
6: 52,194,033 (GRCm39) |
I118T |
possibly damaging |
Het |
Hsp90ab1 |
A |
G |
17: 45,880,210 (GRCm39) |
V473A |
probably benign |
Het |
Ica1l |
T |
C |
1: 60,081,801 (GRCm39) |
|
probably null |
Het |
Ighv1-72 |
A |
G |
12: 115,721,837 (GRCm39) |
S40P |
probably damaging |
Het |
Inhca |
T |
A |
9: 103,127,861 (GRCm39) |
E690V |
probably benign |
Het |
Kif28 |
A |
C |
1: 179,527,839 (GRCm39) |
W771G |
probably damaging |
Het |
Klf13 |
G |
C |
7: 63,587,996 (GRCm39) |
A100G |
probably benign |
Het |
Klhl5 |
A |
G |
5: 65,305,933 (GRCm39) |
E300G |
possibly damaging |
Het |
Krt40 |
A |
G |
11: 99,433,969 (GRCm39) |
S6P |
probably benign |
Het |
Mef2d |
T |
C |
3: 88,075,038 (GRCm39) |
L408P |
possibly damaging |
Het |
Mmp10 |
T |
A |
9: 7,503,301 (GRCm39) |
M87K |
probably damaging |
Het |
Mrgprd |
T |
A |
7: 144,875,643 (GRCm39) |
H171Q |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,137,953 (GRCm39) |
T265I |
possibly damaging |
Het |
Myo15b |
A |
G |
11: 115,750,939 (GRCm39) |
N570D |
|
Het |
Nfs1 |
T |
A |
2: 155,968,243 (GRCm39) |
I408F |
probably damaging |
Het |
Npdc1 |
G |
T |
2: 25,296,257 (GRCm39) |
C48F |
probably damaging |
Het |
Or2j3 |
A |
T |
17: 38,616,222 (GRCm39) |
N43K |
possibly damaging |
Het |
Or52e7 |
T |
C |
7: 104,684,417 (GRCm39) |
I4T |
probably benign |
Het |
Or52j3 |
T |
C |
7: 102,836,587 (GRCm39) |
S260P |
probably damaging |
Het |
Or9a2 |
A |
T |
6: 41,748,678 (GRCm39) |
L185H |
probably damaging |
Het |
Osbpl2 |
T |
C |
2: 179,795,114 (GRCm39) |
M332T |
probably benign |
Het |
Ostm1 |
T |
A |
10: 42,574,213 (GRCm39) |
V302D |
probably damaging |
Het |
Otof |
T |
C |
5: 30,542,532 (GRCm39) |
D672G |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,201,762 (GRCm39) |
K392* |
probably null |
Het |
Pnpla1 |
A |
T |
17: 29,077,950 (GRCm39) |
D37V |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,129,026 (GRCm39) |
S198P |
probably damaging |
Het |
Reln |
A |
T |
5: 22,176,932 (GRCm39) |
N1911K |
probably damaging |
Het |
Ripply3 |
C |
A |
16: 94,136,759 (GRCm39) |
A140E |
probably benign |
Het |
Siglec1 |
A |
G |
2: 130,928,015 (GRCm39) |
C8R |
possibly damaging |
Het |
Slamf6 |
T |
C |
1: 171,747,360 (GRCm39) |
S41P |
unknown |
Het |
Slc15a5 |
A |
G |
6: 138,050,055 (GRCm39) |
M120T |
probably benign |
Het |
Slc25a20 |
T |
G |
9: 108,559,172 (GRCm39) |
D179E |
possibly damaging |
Het |
Sltm |
T |
A |
9: 70,493,352 (GRCm39) |
V783E |
probably damaging |
Het |
Smc1b |
C |
A |
15: 84,953,921 (GRCm39) |
R1116L |
probably damaging |
Het |
Smim23 |
A |
G |
11: 32,774,471 (GRCm39) |
V16A |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
Spen |
T |
C |
4: 141,201,052 (GRCm39) |
D2525G |
probably damaging |
Het |
St14 |
A |
C |
9: 31,019,571 (GRCm39) |
N83K |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,879,341 (GRCm39) |
N713S |
probably null |
Het |
Syne1 |
A |
T |
10: 5,168,580 (GRCm39) |
L5267H |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,344,010 (GRCm39) |
L271P |
probably damaging |
Het |
Tfap2d |
C |
T |
1: 19,213,150 (GRCm39) |
H325Y |
possibly damaging |
Het |
Trav23 |
A |
G |
14: 54,215,020 (GRCm39) |
R78G |
probably benign |
Het |
Ttc39c |
A |
T |
18: 12,776,856 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,070,889 (GRCm39) |
D1228G |
probably damaging |
Het |
Vmn1r66 |
T |
A |
7: 10,008,874 (GRCm39) |
H53L |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,379,046 (GRCm39) |
L53F |
probably damaging |
Het |
Zfp532 |
C |
T |
18: 65,771,984 (GRCm39) |
T834M |
possibly damaging |
Het |
|
Other mutations in Map3k13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00977:Map3k13
|
APN |
16 |
21,740,514 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01092:Map3k13
|
APN |
16 |
21,746,766 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01958:Map3k13
|
APN |
16 |
21,710,873 (GRCm39) |
missense |
probably benign |
|
IGL02444:Map3k13
|
APN |
16 |
21,732,982 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02503:Map3k13
|
APN |
16 |
21,727,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02712:Map3k13
|
APN |
16 |
21,724,005 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03342:Map3k13
|
APN |
16 |
21,710,981 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0086:Map3k13
|
UTSW |
16 |
21,732,975 (GRCm39) |
missense |
probably damaging |
0.98 |
R0124:Map3k13
|
UTSW |
16 |
21,722,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0281:Map3k13
|
UTSW |
16 |
21,732,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Map3k13
|
UTSW |
16 |
21,710,738 (GRCm39) |
missense |
probably benign |
|
R0601:Map3k13
|
UTSW |
16 |
21,723,999 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0669:Map3k13
|
UTSW |
16 |
21,725,274 (GRCm39) |
missense |
probably benign |
0.03 |
R0918:Map3k13
|
UTSW |
16 |
21,744,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R1641:Map3k13
|
UTSW |
16 |
21,722,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R1838:Map3k13
|
UTSW |
16 |
21,732,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1891:Map3k13
|
UTSW |
16 |
21,729,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Map3k13
|
UTSW |
16 |
21,710,894 (GRCm39) |
missense |
probably benign |
0.01 |
R2332:Map3k13
|
UTSW |
16 |
21,717,427 (GRCm39) |
splice site |
probably null |
|
R2361:Map3k13
|
UTSW |
16 |
21,725,286 (GRCm39) |
missense |
probably benign |
0.05 |
R4395:Map3k13
|
UTSW |
16 |
21,717,321 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4505:Map3k13
|
UTSW |
16 |
21,740,928 (GRCm39) |
missense |
probably benign |
0.00 |
R4506:Map3k13
|
UTSW |
16 |
21,740,928 (GRCm39) |
missense |
probably benign |
0.00 |
R4521:Map3k13
|
UTSW |
16 |
21,724,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4753:Map3k13
|
UTSW |
16 |
21,710,752 (GRCm39) |
missense |
probably benign |
|
R4952:Map3k13
|
UTSW |
16 |
21,729,769 (GRCm39) |
missense |
probably benign |
0.15 |
R5035:Map3k13
|
UTSW |
16 |
21,740,421 (GRCm39) |
missense |
probably benign |
0.03 |
R5327:Map3k13
|
UTSW |
16 |
21,740,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5784:Map3k13
|
UTSW |
16 |
21,717,391 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5831:Map3k13
|
UTSW |
16 |
21,746,798 (GRCm39) |
makesense |
probably null |
|
R5996:Map3k13
|
UTSW |
16 |
21,723,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6007:Map3k13
|
UTSW |
16 |
21,723,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6546:Map3k13
|
UTSW |
16 |
21,740,527 (GRCm39) |
missense |
probably benign |
0.15 |
R6620:Map3k13
|
UTSW |
16 |
21,711,061 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6683:Map3k13
|
UTSW |
16 |
21,711,062 (GRCm39) |
missense |
probably benign |
0.32 |
R6692:Map3k13
|
UTSW |
16 |
21,723,987 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6695:Map3k13
|
UTSW |
16 |
21,741,028 (GRCm39) |
missense |
probably benign |
0.10 |
R6743:Map3k13
|
UTSW |
16 |
21,711,173 (GRCm39) |
missense |
probably damaging |
0.98 |
R6822:Map3k13
|
UTSW |
16 |
21,741,013 (GRCm39) |
missense |
probably benign |
0.00 |
R6965:Map3k13
|
UTSW |
16 |
21,740,900 (GRCm39) |
missense |
probably benign |
|
R7149:Map3k13
|
UTSW |
16 |
21,744,187 (GRCm39) |
missense |
probably benign |
0.04 |
R7174:Map3k13
|
UTSW |
16 |
21,745,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7256:Map3k13
|
UTSW |
16 |
21,710,988 (GRCm39) |
missense |
probably benign |
0.03 |
R7733:Map3k13
|
UTSW |
16 |
21,740,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Map3k13
|
UTSW |
16 |
21,724,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R7871:Map3k13
|
UTSW |
16 |
21,740,346 (GRCm39) |
missense |
probably benign |
0.09 |
R7876:Map3k13
|
UTSW |
16 |
21,741,069 (GRCm39) |
missense |
probably benign |
0.00 |
R8002:Map3k13
|
UTSW |
16 |
21,723,878 (GRCm39) |
missense |
probably benign |
0.05 |
R8089:Map3k13
|
UTSW |
16 |
21,722,567 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8341:Map3k13
|
UTSW |
16 |
21,740,334 (GRCm39) |
nonsense |
probably null |
|
R8738:Map3k13
|
UTSW |
16 |
21,745,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Map3k13
|
UTSW |
16 |
21,727,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8949:Map3k13
|
UTSW |
16 |
21,723,882 (GRCm39) |
missense |
probably benign |
0.05 |
R9391:Map3k13
|
UTSW |
16 |
21,740,665 (GRCm39) |
missense |
probably benign |
0.00 |
R9749:Map3k13
|
UTSW |
16 |
21,740,581 (GRCm39) |
missense |
probably benign |
0.00 |
R9802:Map3k13
|
UTSW |
16 |
21,740,518 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1176:Map3k13
|
UTSW |
16 |
21,723,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGGTCTTTAGATGTTCCCAC -3'
(R):5'- AGGCCAGTAATCCGCCAAATG -3'
Sequencing Primer
(F):5'- TAGATGTTCCCACTACTGAGCCAG -3'
(R):5'- CCACCACTGAAGTGCTGTG -3'
|
Posted On |
2019-09-13 |