Incidental Mutation 'IGL01092:Map3k13'
| ID |
52910 |
| 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 # |
IGL01092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21746766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 950
(T950S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
| AlphaFold |
Q1HKZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042065
AA Change: T950S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: T950S
| 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: T950S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232240
AA Change: T950S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap33 |
T |
C |
7: 30,229,371 (GRCm39) |
R335G |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 5,067,987 (GRCm39) |
S995L |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,789,556 (GRCm39) |
R340* |
probably null |
Het |
| Ccdc83 |
A |
T |
7: 89,896,313 (GRCm39) |
D85E |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,434 (GRCm39) |
H1602Q |
possibly damaging |
Het |
| Cog2 |
A |
G |
8: 125,272,019 (GRCm39) |
D511G |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
| Creb3l4 |
T |
C |
3: 90,145,045 (GRCm39) |
E369G |
probably damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,761,868 (GRCm39) |
K563R |
probably benign |
Het |
| Dbi |
T |
C |
1: 120,041,207 (GRCm39) |
K131E |
probably benign |
Het |
| Edn1 |
A |
G |
13: 42,457,147 (GRCm39) |
D60G |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,970,520 (GRCm39) |
N1032S |
probably damaging |
Het |
| Ero1a |
T |
C |
14: 45,541,043 (GRCm39) |
D107G |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,726,378 (GRCm39) |
|
probably null |
Het |
| Grxcr1 |
T |
C |
5: 68,267,905 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,631,738 (GRCm39) |
K593I |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,279,932 (GRCm39) |
Y1356C |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,640,959 (GRCm39) |
C3495Y |
probably damaging |
Het |
| Me1 |
A |
T |
9: 86,480,801 (GRCm39) |
V348D |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,634,042 (GRCm39) |
V718A |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,209,089 (GRCm39) |
E1883G |
possibly damaging |
Het |
| Or10ak14 |
T |
A |
4: 118,610,959 (GRCm39) |
I259F |
possibly damaging |
Het |
| Or8b49 |
T |
G |
9: 38,506,201 (GRCm39) |
I228R |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,509,249 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
T |
A |
19: 6,932,690 (GRCm39) |
E1025V |
probably benign |
Het |
| Ppp1r26 |
C |
T |
2: 28,343,872 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,430,298 (GRCm39) |
|
probably benign |
Het |
| Rwdd4a |
C |
T |
8: 47,997,147 (GRCm39) |
T122M |
possibly damaging |
Het |
| Sdhb |
T |
G |
4: 140,704,791 (GRCm39) |
C251G |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,921,137 (GRCm39) |
I678N |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,026,801 (GRCm39) |
D215G |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,951,871 (GRCm39) |
E674G |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,920,879 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
A |
T |
17: 24,924,226 (GRCm39) |
I177N |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,612,811 (GRCm39) |
V483A |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation