Incidental Mutation 'R0124:Map3k13'
ID |
21245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k13
|
Ensembl Gene |
ENSMUSG00000033618 |
Gene Name |
mitogen-activated protein kinase kinase kinase 13 |
Synonyms |
C130026N12Rik |
MMRRC Submission |
038409-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0124 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
16 |
Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21722506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 223
(T223A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
AlphaFold |
Q1HKZ5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042065
AA Change: T223A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047388 Gene: ENSMUSG00000033618 AA Change: T223A
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 |
noncoding transcript
Transcript: ENSMUST00000180401
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231988
AA Change: T223A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232240
AA Change: T223A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.2489 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 89.8%
|
Validation Efficiency |
100% (67/67) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,138,656 (GRCm39) |
T194A |
probably benign |
Het |
Afap1 |
C |
T |
5: 36,102,553 (GRCm39) |
P82S |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,449,698 (GRCm39) |
Y481H |
probably damaging |
Het |
Arid1b |
C |
T |
17: 5,389,605 (GRCm39) |
T1717I |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,002,676 (GRCm39) |
K348R |
probably benign |
Het |
Bcl3 |
C |
T |
7: 19,543,576 (GRCm39) |
V5M |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,118,725 (GRCm39) |
E2321G |
probably benign |
Het |
Casq1 |
C |
T |
1: 172,037,992 (GRCm39) |
V380M |
probably damaging |
Het |
Cd209e |
T |
A |
8: 3,901,274 (GRCm39) |
T127S |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,143,835 (GRCm39) |
Y2921* |
probably null |
Het |
Cdh6 |
A |
G |
15: 13,034,410 (GRCm39) |
L750P |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,102,073 (GRCm39) |
|
probably benign |
Het |
Ces5a |
T |
C |
8: 94,255,183 (GRCm39) |
E170G |
probably damaging |
Het |
Clec4f |
A |
G |
6: 83,629,335 (GRCm39) |
|
probably null |
Het |
Col19a1 |
T |
C |
1: 24,565,539 (GRCm39) |
N264S |
unknown |
Het |
Col2a1 |
T |
A |
15: 97,896,743 (GRCm39) |
I43F |
unknown |
Het |
Col4a2 |
A |
G |
8: 11,458,871 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,454,112 (GRCm39) |
D3578V |
probably damaging |
Het |
Cyp2c37 |
T |
C |
19: 39,982,546 (GRCm39) |
L128P |
probably damaging |
Het |
Dennd2b |
A |
G |
7: 109,141,718 (GRCm39) |
S132P |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,042,084 (GRCm39) |
|
probably benign |
Het |
Eml1 |
T |
C |
12: 108,472,867 (GRCm39) |
V225A |
probably benign |
Het |
Eml1 |
A |
G |
12: 108,475,437 (GRCm39) |
Y256C |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,561,370 (GRCm39) |
K64* |
probably null |
Het |
Fat2 |
A |
G |
11: 55,174,504 (GRCm39) |
F2070L |
probably damaging |
Het |
Fbxw18 |
G |
T |
9: 109,520,583 (GRCm39) |
H259N |
probably benign |
Het |
Gm10764 |
A |
T |
10: 87,126,610 (GRCm39) |
T6S |
unknown |
Het |
Gm14412 |
A |
G |
2: 177,007,705 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,133,646 (GRCm39) |
|
probably benign |
Het |
Hid1 |
T |
C |
11: 115,247,649 (GRCm39) |
T250A |
probably damaging |
Het |
Hnf4g |
A |
G |
3: 3,708,142 (GRCm39) |
|
probably benign |
Het |
Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,006,281 (GRCm39) |
|
probably null |
Het |
Matn2 |
C |
T |
15: 34,426,297 (GRCm39) |
|
probably benign |
Het |
Myo6 |
A |
G |
9: 80,215,056 (GRCm39) |
E1253G |
probably damaging |
Het |
Nomo1 |
G |
T |
7: 45,732,652 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
A |
T |
2: 36,827,268 (GRCm39) |
I46F |
possibly damaging |
Het |
Or4c116 |
A |
T |
2: 88,942,088 (GRCm39) |
I256K |
possibly damaging |
Het |
Or8a1b |
A |
G |
9: 37,622,759 (GRCm39) |
V272A |
possibly damaging |
Het |
Papolg |
C |
T |
11: 23,817,535 (GRCm39) |
A582T |
probably benign |
Het |
Plekhm3 |
C |
T |
1: 64,960,910 (GRCm39) |
E449K |
probably damaging |
Het |
Pole |
T |
G |
5: 110,451,858 (GRCm39) |
M900R |
probably damaging |
Het |
Ppp1cb |
T |
A |
5: 32,640,822 (GRCm39) |
|
probably benign |
Het |
Pramel17 |
A |
G |
4: 101,692,570 (GRCm39) |
*477Q |
probably null |
Het |
Pros1 |
A |
G |
16: 62,734,309 (GRCm39) |
T372A |
possibly damaging |
Het |
Scara3 |
A |
T |
14: 66,168,670 (GRCm39) |
S316T |
probably benign |
Het |
Stau2 |
C |
T |
1: 16,533,352 (GRCm39) |
A61T |
probably damaging |
Het |
Stx3 |
T |
C |
19: 11,769,163 (GRCm39) |
E54G |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,232,434 (GRCm39) |
|
probably benign |
Het |
Swt1 |
A |
T |
1: 151,267,280 (GRCm39) |
C634S |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,494,842 (GRCm39) |
Y269C |
probably damaging |
Het |
Tfap2a |
G |
A |
13: 40,870,887 (GRCm39) |
|
probably benign |
Het |
Tmx4 |
A |
T |
2: 134,481,640 (GRCm39) |
|
probably null |
Het |
Ttc39d |
T |
C |
17: 80,524,375 (GRCm39) |
C345R |
probably damaging |
Het |
Vmn1r27 |
T |
C |
6: 58,192,233 (GRCm39) |
Y257C |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,576,674 (GRCm39) |
|
probably null |
Het |
Wdr17 |
A |
G |
8: 55,088,526 (GRCm39) |
S1175P |
probably damaging |
Het |
Wsb2 |
T |
C |
5: 117,501,823 (GRCm39) |
F63L |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,607,782 (GRCm39) |
Y1561H |
probably 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 |
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 |
R7400:Map3k13
|
UTSW |
16 |
21,741,072 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTCAGCGCATCCAGTCTATCCAAG -3'
(R):5'- CACCGTGCAACGGAAATCGAATTAC -3'
Sequencing Primer
(F):5'- AGATTAGCACAGCCTGTTGC -3'
(R):5'- TCTAGAACTCACTTGGGCGAC -3'
|
Posted On |
2013-04-11 |