Incidental Mutation 'R7149:Map3k13'
ID |
554028 |
Institutional Source |
Beutler Lab
|
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 # |
R7149 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21744187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 811
(E811G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
AlphaFold |
Q1HKZ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042065
AA Change: E811G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000047388 Gene: ENSMUSG00000033618 AA Change: E811G
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 benign
Transcript: ENSMUST00000231988
AA Change: E811G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232240
AA Change: E811G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
C |
11: 100,375,451 (GRCm39) |
F790V |
probably damaging |
Het |
Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
Brd8 |
C |
T |
18: 34,737,650 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,993,520 (GRCm39) |
L744* |
probably null |
Het |
Capn9 |
A |
G |
8: 125,332,448 (GRCm39) |
D429G |
probably benign |
Het |
CK137956 |
A |
T |
4: 127,864,626 (GRCm39) |
M1K |
probably null |
Het |
Cnot6 |
G |
A |
11: 49,570,970 (GRCm39) |
P341S |
probably benign |
Het |
Cracdl |
G |
A |
1: 37,651,352 (GRCm39) |
Q1172* |
probably null |
Het |
Dld |
T |
G |
12: 31,385,589 (GRCm39) |
I251L |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,240,492 (GRCm39) |
K253R |
probably benign |
Het |
Dnmt3a |
C |
T |
12: 3,952,397 (GRCm39) |
P696L |
probably damaging |
Het |
Dph1 |
T |
C |
11: 75,070,001 (GRCm39) |
K409E |
probably benign |
Het |
Dsg2 |
T |
C |
18: 20,712,511 (GRCm39) |
S172P |
probably damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,945 (GRCm39) |
N136S |
probably benign |
Het |
Gm2663 |
A |
T |
6: 40,974,891 (GRCm39) |
L60Q |
probably damaging |
Het |
Hdac10 |
A |
G |
15: 89,011,652 (GRCm39) |
F144S |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,756,494 (GRCm39) |
T430A |
unknown |
Het |
Itgb2l |
T |
C |
16: 96,234,759 (GRCm39) |
D244G |
probably damaging |
Het |
Klk1b9 |
A |
T |
7: 43,628,841 (GRCm39) |
Y115F |
probably benign |
Het |
Llcfc1 |
C |
A |
6: 41,662,251 (GRCm39) |
A85E |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,527,872 (GRCm39) |
V4330M |
|
Het |
Myl6b |
A |
G |
10: 128,333,068 (GRCm39) |
|
probably null |
Het |
Myo15a |
G |
A |
11: 60,400,836 (GRCm39) |
A2997T |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,837,277 (GRCm39) |
D29G |
probably benign |
Het |
Nepro |
T |
A |
16: 44,550,078 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
A |
11: 71,072,482 (GRCm39) |
R454* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,149,863 (GRCm39) |
V490A |
probably benign |
Het |
Or1e1f |
G |
A |
11: 73,856,257 (GRCm39) |
M274I |
probably benign |
Het |
Or2l13 |
T |
C |
16: 19,306,260 (GRCm39) |
V224A |
probably damaging |
Het |
Pde8b |
T |
G |
13: 95,223,349 (GRCm39) |
M197L |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,571,895 (GRCm39) |
K1166* |
probably null |
Het |
Plekhm1 |
A |
G |
11: 103,285,742 (GRCm39) |
I231T |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,146,599 (GRCm39) |
I199T |
probably damaging |
Het |
Ptch1 |
G |
T |
13: 63,659,550 (GRCm39) |
H1368N |
probably benign |
Het |
Ptprj |
T |
A |
2: 90,274,790 (GRCm39) |
T1191S |
possibly damaging |
Het |
Rapgef1 |
T |
C |
2: 29,610,712 (GRCm39) |
S748P |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,222,079 (GRCm39) |
D445G |
possibly damaging |
Het |
Rnmt |
T |
C |
18: 68,452,222 (GRCm39) |
S420P |
probably damaging |
Het |
Sgms2 |
A |
G |
3: 131,129,908 (GRCm39) |
F160S |
possibly damaging |
Het |
Sim1 |
G |
T |
10: 50,785,636 (GRCm39) |
R235L |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,690,178 (GRCm39) |
S192P |
probably damaging |
Het |
Smarcad1 |
T |
A |
6: 65,029,716 (GRCm39) |
D101E |
probably benign |
Het |
Smarcc2 |
G |
A |
10: 128,318,598 (GRCm39) |
V627M |
probably damaging |
Het |
Supt20 |
G |
A |
3: 54,635,832 (GRCm39) |
R241H |
unknown |
Het |
Tagln2 |
T |
A |
1: 172,333,386 (GRCm39) |
I80N |
probably damaging |
Het |
Tmod2 |
G |
A |
9: 75,489,167 (GRCm39) |
T226I |
possibly damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,030,654 (GRCm39) |
I827F |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,989 (GRCm39) |
M714K |
possibly damaging |
Het |
Vps8 |
C |
A |
16: 21,278,526 (GRCm39) |
D261E |
probably damaging |
Het |
Yeats2 |
C |
A |
16: 19,972,939 (GRCm39) |
A31E |
probably damaging |
Het |
Zfp451 |
C |
T |
1: 33,816,405 (GRCm39) |
R515Q |
probably damaging |
Het |
Zfp553 |
A |
G |
7: 126,835,605 (GRCm39) |
S387G |
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 |
|
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'- ATCTGGAAGCTGCTTTGCG -3'
(R):5'- TCAGTTTCCATGTACGGTGG -3'
Sequencing Primer
(F):5'- TTAGTAGGCCAGACACTCACTG -3'
(R):5'- TCCATGTACGGTGGCTGCAG -3'
|
Posted On |
2019-05-15 |