Incidental Mutation 'R6743:Map3k13'
| ID |
532755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k13
|
| Ensembl Gene |
ENSMUSG00000033618 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 13 |
| Synonyms |
C130026N12Rik |
| MMRRC Submission |
044860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21711173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 152
(Y152C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
| AlphaFold |
Q1HKZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042065
AA Change: Y152C
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: Y152C
| 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: ENSMUST00000231988
AA Change: Y152C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232240
AA Change: Y152C
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,327,321 (GRCm39) |
R339C |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,565,436 (GRCm39) |
G721R |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,171,274 (GRCm39) |
V1045A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,888 (GRCm39) |
I856T |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,526,454 (GRCm39) |
K115* |
probably null |
Het |
| Arc |
A |
G |
15: 74,543,636 (GRCm39) |
S196P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,447,562 (GRCm39) |
I768T |
possibly damaging |
Het |
| Blk |
C |
T |
14: 63,622,375 (GRCm39) |
R55H |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,810,005 (GRCm39) |
S168G |
probably benign |
Het |
| Cda |
G |
T |
4: 138,066,253 (GRCm39) |
T128K |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,799 (GRCm39) |
T2601S |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,013,847 (GRCm39) |
V1545A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,309,971 (GRCm39) |
N6264K |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,718 (GRCm39) |
S191G |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,100,912 (GRCm39) |
S280T |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,343 (GRCm39) |
I63V |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,518,347 (GRCm39) |
S1040P |
unknown |
Het |
| Gm14295 |
T |
G |
2: 176,502,420 (GRCm39) |
C637G |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,997 (GRCm39) |
T541A |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,042,849 (GRCm39) |
F240L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,454,766 (GRCm39) |
I1219L |
probably benign |
Het |
| Morc1 |
G |
A |
16: 48,322,683 (GRCm39) |
A327T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,366,475 (GRCm39) |
Y553F |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,804,803 (GRCm39) |
|
probably null |
Het |
| Or14j1 |
A |
C |
17: 38,146,694 (GRCm39) |
D268A |
probably damaging |
Het |
| Or5b3 |
C |
T |
19: 13,387,957 (GRCm39) |
T8I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pde6a |
T |
A |
18: 61,397,057 (GRCm39) |
F634L |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,370 (GRCm39) |
C1556F |
probably damaging |
Het |
| Prdm5 |
G |
A |
6: 65,860,635 (GRCm39) |
V440I |
probably damaging |
Het |
| Rasa2 |
T |
C |
9: 96,493,493 (GRCm39) |
T64A |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,881 (GRCm39) |
Y106N |
probably damaging |
Het |
| Sfswap |
C |
T |
5: 129,627,883 (GRCm39) |
Q689* |
probably null |
Het |
| Slamf8 |
C |
T |
1: 172,417,965 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,726 (GRCm39) |
T28M |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,123 (GRCm39) |
K105E |
probably benign |
Het |
| Tsr1 |
T |
C |
11: 74,799,177 (GRCm39) |
V786A |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,079 (GRCm39) |
I58T |
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 |
|
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'- GCCAGTTTGAGAACAGTGTTC -3'
(R):5'- GAACCCCTAAGCATGAACTTGC -3'
Sequencing Primer
(F):5'- ATGAGTCAGAGATGACCCTGTCTC -3'
(R):5'- GCATGAACTTGCTCCATTCGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation