Incidental Mutation 'R4753:Map3k13'
ID |
357754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k13
|
Ensembl Gene |
ENSMUSG00000033618 |
Gene Name |
mitogen-activated protein kinase kinase kinase 13 |
Synonyms |
C130026N12Rik |
MMRRC Submission |
041971-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4753 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21710752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 12
(S12P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
AlphaFold |
Q1HKZ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042065
AA Change: S12P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047388 Gene: ENSMUSG00000033618 AA Change: S12P
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 |
probably benign
Transcript: ENSMUST00000231988
AA Change: S12P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232240
AA Change: S12P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.1033 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
98% (57/58) |
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 |
Ankrd55 |
T |
A |
13: 112,500,009 (GRCm39) |
D257E |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,494,938 (GRCm39) |
V399A |
probably damaging |
Het |
Atp8b5 |
C |
T |
4: 43,372,710 (GRCm39) |
P1117S |
probably damaging |
Het |
Cd48 |
A |
G |
1: 171,527,156 (GRCm39) |
Q194R |
probably damaging |
Het |
Cdk13 |
G |
A |
13: 17,937,833 (GRCm39) |
R737C |
probably damaging |
Het |
Clasrp |
A |
T |
7: 19,328,865 (GRCm39) |
I89N |
probably damaging |
Het |
Clrn1 |
G |
T |
3: 58,792,318 (GRCm39) |
N48K |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,043,451 (GRCm39) |
V1313E |
possibly damaging |
Het |
Cyld |
T |
A |
8: 89,471,444 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dtl |
T |
C |
1: 191,301,815 (GRCm39) |
T81A |
probably damaging |
Het |
Dus1l |
C |
T |
11: 120,682,901 (GRCm39) |
E299K |
probably benign |
Het |
E130114P18Rik |
A |
T |
4: 97,463,129 (GRCm39) |
D14E |
possibly damaging |
Het |
Fam83g |
C |
A |
11: 61,586,095 (GRCm39) |
H228N |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 25,223,382 (GRCm39) |
K909N |
possibly damaging |
Het |
Fign |
T |
A |
2: 63,809,363 (GRCm39) |
I636L |
probably benign |
Het |
Foxm1 |
A |
G |
6: 128,349,519 (GRCm39) |
E346G |
probably null |
Het |
Gcc2 |
T |
C |
10: 58,126,204 (GRCm39) |
Y1271H |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,754,537 (GRCm39) |
V2379A |
probably benign |
Het |
Grin2d |
G |
T |
7: 45,483,330 (GRCm39) |
P949Q |
probably damaging |
Het |
Ighv1-43 |
C |
A |
12: 114,909,762 (GRCm39) |
M53I |
probably benign |
Het |
Itgad |
A |
G |
7: 127,822,875 (GRCm39) |
*97W |
probably null |
Het |
Jade1 |
C |
T |
3: 41,551,106 (GRCm39) |
R2* |
probably null |
Het |
Lama3 |
G |
T |
18: 12,615,141 (GRCm39) |
C1355F |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,696,608 (GRCm39) |
T402A |
probably benign |
Het |
Mill1 |
A |
C |
7: 17,996,472 (GRCm39) |
K96T |
probably benign |
Het |
Muc19 |
T |
G |
15: 91,761,955 (GRCm39) |
|
noncoding transcript |
Het |
Muc5b |
C |
A |
7: 141,410,590 (GRCm39) |
T1321N |
unknown |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or1ad1 |
T |
C |
11: 50,875,978 (GRCm39) |
V150A |
probably benign |
Het |
Or1e35 |
T |
A |
11: 73,797,677 (GRCm39) |
I214F |
probably damaging |
Het |
Pdgfra |
C |
T |
5: 75,342,185 (GRCm39) |
P669S |
probably damaging |
Het |
Procr |
A |
G |
2: 155,595,384 (GRCm39) |
N63D |
probably damaging |
Het |
Prrc2c |
A |
G |
1: 162,518,799 (GRCm39) |
S2136P |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,642,769 (GRCm39) |
M677V |
probably benign |
Het |
Rad52 |
T |
A |
6: 119,889,946 (GRCm39) |
|
probably benign |
Het |
Rasa1 |
A |
G |
13: 85,436,509 (GRCm39) |
|
probably null |
Het |
Rogdi |
T |
C |
16: 4,828,363 (GRCm39) |
T189A |
probably damaging |
Het |
Rph3al |
G |
A |
11: 75,799,845 (GRCm39) |
T38M |
probably damaging |
Het |
Rps6ka2 |
T |
A |
17: 7,566,707 (GRCm39) |
V655E |
possibly damaging |
Het |
Sik3 |
T |
C |
9: 46,109,512 (GRCm39) |
F499L |
probably damaging |
Het |
Skint4 |
A |
G |
4: 112,003,728 (GRCm39) |
N387S |
probably benign |
Het |
Slc6a12 |
C |
T |
6: 121,333,862 (GRCm39) |
|
probably benign |
Het |
Stk36 |
A |
G |
1: 74,665,255 (GRCm39) |
T667A |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,053,212 (GRCm39) |
I3378V |
probably benign |
Het |
Thnsl1 |
C |
T |
2: 21,218,175 (GRCm39) |
T122I |
probably damaging |
Het |
Timeless |
G |
A |
10: 128,075,889 (GRCm39) |
|
probably benign |
Het |
Tnxb |
G |
A |
17: 34,914,909 (GRCm39) |
V1966I |
possibly damaging |
Het |
Tril |
A |
G |
6: 53,796,698 (GRCm39) |
F175L |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,613,140 (GRCm39) |
Y604C |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,508,074 (GRCm39) |
M736L |
probably benign |
Het |
Zscan10 |
A |
C |
17: 23,826,208 (GRCm39) |
E123D |
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 |
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 |
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'- TGGTTGTGTAATCAGAAGTGGAAG -3'
(R):5'- TCTCAAACTGGCCCCTAGAATC -3'
Sequencing Primer
(F):5'- TCAGAAGTGGAAGAGTGTAGGTAC -3'
(R):5'- AGAATCCTCGCTTACACTGG -3'
|
Posted On |
2015-11-11 |