Incidental Mutation 'IGL03342:Map3k13'
| ID |
417258 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map3k13
|
| Ensembl Gene |
ENSMUSG00000033618 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 13 |
| Synonyms |
C130026N12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03342
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21710981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 88
(E88G)
|
| 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: E88G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: E88G
| 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: ENSMUST00000171547
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231988
AA Change: E88G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232240
AA Change: E88G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| 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 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,178,517 (GRCm39) |
T1152M |
possibly damaging |
Het |
| Abcg2 |
G |
T |
6: 58,642,120 (GRCm39) |
R136I |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,924,310 (GRCm39) |
V641A |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,540,390 (GRCm39) |
D706E |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,947,621 (GRCm39) |
L311Q |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,342,690 (GRCm39) |
|
probably null |
Het |
| Car2 |
A |
T |
3: 14,960,629 (GRCm39) |
D129V |
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,237,217 (GRCm39) |
I228V |
probably damaging |
Het |
| Cdhr3 |
C |
A |
12: 33,101,054 (GRCm39) |
R452M |
probably benign |
Het |
| Chrm1 |
A |
T |
19: 8,656,672 (GRCm39) |
Q459L |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 19,098,264 (GRCm39) |
|
probably benign |
Het |
| Coa7 |
A |
G |
4: 108,189,426 (GRCm39) |
D42G |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,933 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,472 (GRCm39) |
Q165* |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,791,927 (GRCm39) |
P489S |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,916,910 (GRCm39) |
I276F |
probably damaging |
Het |
| Dsg1b |
T |
A |
18: 20,542,517 (GRCm39) |
M1008K |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,584,880 (GRCm39) |
I198N |
probably damaging |
Het |
| Dtymk |
C |
A |
1: 93,722,541 (GRCm39) |
E87D |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,167,854 (GRCm39) |
D1749E |
probably benign |
Het |
| Dzip3 |
G |
T |
16: 48,749,986 (GRCm39) |
Q1050K |
probably damaging |
Het |
| Echs1 |
C |
T |
7: 139,690,026 (GRCm39) |
|
probably benign |
Het |
| Enc1 |
T |
A |
13: 97,382,978 (GRCm39) |
I496N |
possibly damaging |
Het |
| Epc2 |
A |
T |
2: 49,426,658 (GRCm39) |
Y139F |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,719,693 (GRCm39) |
N246I |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,542 (GRCm39) |
K190R |
probably damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,971 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1l1 |
A |
C |
4: 116,431,740 (GRCm39) |
T133P |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,180,022 (GRCm39) |
F146S |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,955,715 (GRCm39) |
I190L |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,775,047 (GRCm39) |
R515H |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,490,796 (GRCm39) |
M971I |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,530,314 (GRCm39) |
D442N |
probably benign |
Het |
| Manba |
A |
T |
3: 135,223,748 (GRCm39) |
I212F |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,382,216 (GRCm39) |
L163P |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,080,006 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,653,312 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,653,420 (GRCm39) |
D365G |
possibly damaging |
Het |
| Mtrf1 |
C |
T |
14: 79,653,311 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
T |
7: 3,345,403 (GRCm39) |
T55I |
possibly damaging |
Het |
| Nlgn1 |
A |
T |
3: 26,187,411 (GRCm39) |
I158N |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,313 (GRCm39) |
L690P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,617 (GRCm39) |
D544E |
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,320,482 (GRCm39) |
L20Q |
probably damaging |
Het |
| Or1e30 |
T |
A |
11: 73,678,309 (GRCm39) |
S182T |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,579 (GRCm39) |
I17N |
possibly damaging |
Het |
| Or9i16 |
A |
G |
19: 13,864,801 (GRCm39) |
Y258H |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,537,909 (GRCm39) |
Q4* |
probably null |
Het |
| Pfkl |
A |
T |
10: 77,841,309 (GRCm39) |
I13K |
possibly damaging |
Het |
| Pinx1 |
A |
G |
14: 64,157,018 (GRCm39) |
D315G |
probably benign |
Het |
| Prickle3 |
A |
G |
X: 7,529,735 (GRCm39) |
D47G |
probably benign |
Het |
| Psmd10 |
A |
T |
X: 139,857,403 (GRCm39) |
V5E |
probably damaging |
Het |
| Rasgrf2 |
C |
A |
13: 92,136,098 (GRCm39) |
V605F |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,981,146 (GRCm39) |
A84D |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,852,588 (GRCm39) |
V112A |
probably damaging |
Het |
| Srgap3 |
G |
A |
6: 112,752,648 (GRCm39) |
R279C |
probably damaging |
Het |
| Trav21-dv12 |
T |
C |
14: 54,113,501 (GRCm39) |
L10P |
unknown |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,236 (GRCm39) |
H118L |
probably benign |
Het |
| Vmn2r120 |
A |
G |
17: 57,816,372 (GRCm39) |
M661T |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,782 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r41 |
G |
T |
7: 8,141,682 (GRCm39) |
A594D |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,283 (GRCm39) |
E103G |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,106,298 (GRCm39) |
G130* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation