Incidental Mutation 'R0569:Map3k8'
| ID |
46334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k8
|
| Ensembl Gene |
ENSMUSG00000024235 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 8 |
| Synonyms |
Tpl2, Cot, Cot/Tpl2, Tpl-2, c-COT |
| MMRRC Submission |
038760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0569 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4331325-4352978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4349162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 52
(D52G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025078]
[ENSMUST00000173930]
|
| AlphaFold |
Q07174 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025078
AA Change: D52G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025078
Gene: ENSMUSG00000024235
AA Change: D52G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
137 |
388 |
1.1e-47 |
PFAM |
|
Pfam:Pkinase_Tyr
|
139 |
386 |
4.6e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173930
AA Change: D52G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133469
Gene: ENSMUSG00000024235
AA Change: D52G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1phk__
|
146 |
169 |
2e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.1105 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mutant mice resist endotoxic shock. Their MHC II expression is enhanced. Macrophages' TNF-alpha response to viruses and to all TLR ligands is impaired. Macrophage and T-cell secretion of other cytokines in response to various TLR ligands or OVA is aberrant. Anti-OVA Ig classes are abnormally skewed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,621,016 (GRCm39) |
I572M |
possibly damaging |
Het |
| 4930447A16Rik |
T |
C |
15: 37,425,863 (GRCm39) |
M1T |
probably null |
Het |
| 4930590J08Rik |
C |
A |
6: 91,919,559 (GRCm39) |
C739* |
probably null |
Het |
| Adcy1 |
T |
A |
11: 7,096,514 (GRCm39) |
V634E |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,644,434 (GRCm39) |
H710Q |
possibly damaging |
Het |
| Ankrd60 |
C |
T |
2: 173,412,859 (GRCm39) |
V90M |
probably damaging |
Het |
| Asgr2 |
A |
T |
11: 69,988,703 (GRCm39) |
Q132L |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,839,865 (GRCm39) |
|
probably null |
Het |
| Ces1h |
T |
C |
8: 94,078,774 (GRCm39) |
K523E |
unknown |
Het |
| Clec3a |
G |
T |
8: 115,152,476 (GRCm39) |
G161C |
probably damaging |
Het |
| Cracr2b |
G |
A |
7: 141,044,848 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
A |
T |
7: 25,597,160 (GRCm39) |
L17F |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,084,748 (GRCm39) |
N655K |
probably benign |
Het |
| Dst |
C |
A |
1: 34,332,508 (GRCm39) |
L4748I |
probably damaging |
Het |
| Eif2b5 |
G |
C |
16: 20,321,303 (GRCm39) |
L285F |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,875,117 (GRCm39) |
D441E |
probably damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,404 (GRCm39) |
E122G |
probably damaging |
Het |
| Fam161b |
T |
A |
12: 84,395,413 (GRCm39) |
E510V |
probably damaging |
Het |
| Gabrd |
T |
C |
4: 155,469,880 (GRCm39) |
Y443C |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,733,118 (GRCm39) |
S1052A |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,264,419 (GRCm39) |
E279G |
possibly damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,185,163 (GRCm39) |
|
probably null |
Het |
| Ibtk |
T |
A |
9: 85,590,234 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
A |
T |
3: 89,785,149 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
C |
T |
3: 87,998,032 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
C |
1: 189,071,998 (GRCm39) |
L110R |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,927,916 (GRCm39) |
V1919D |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,779,251 (GRCm39) |
L2597Q |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,923,358 (GRCm39) |
S1120P |
probably benign |
Het |
| Mcat |
C |
T |
15: 83,433,449 (GRCm39) |
R198H |
probably benign |
Het |
| Mnd1 |
A |
G |
3: 84,012,286 (GRCm39) |
V141A |
probably benign |
Het |
| Morc1 |
T |
C |
16: 48,407,485 (GRCm39) |
L667P |
probably benign |
Het |
| Mrps6 |
A |
G |
16: 91,908,808 (GRCm39) |
K125E |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,959,500 (GRCm39) |
F262S |
probably damaging |
Het |
| Or5j3 |
T |
G |
2: 86,128,941 (GRCm39) |
I260M |
probably damaging |
Het |
| Or7e178 |
T |
A |
9: 20,225,875 (GRCm39) |
I114F |
probably damaging |
Het |
| Pbsn |
C |
G |
X: 76,897,046 (GRCm39) |
G15A |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,038,804 (GRCm39) |
I2023T |
probably benign |
Het |
| Pds5a |
T |
G |
5: 65,813,744 (GRCm39) |
N247T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,167,373 (GRCm39) |
Y185C |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,744,031 (GRCm39) |
I560N |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,658 (GRCm39) |
I160V |
probably damaging |
Het |
| Rabgap1 |
T |
G |
2: 37,379,729 (GRCm39) |
|
probably benign |
Het |
| Rdh10 |
T |
G |
1: 16,199,517 (GRCm39) |
V241G |
probably damaging |
Het |
| Selenow |
A |
T |
7: 15,654,042 (GRCm39) |
C37S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,403,872 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,057,153 (GRCm39) |
|
probably null |
Het |
| Slc22a21 |
T |
G |
11: 53,842,636 (GRCm39) |
M498L |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,122,486 (GRCm39) |
N317I |
probably damaging |
Het |
| Srek1 |
A |
G |
13: 103,885,370 (GRCm39) |
|
probably benign |
Het |
| Syt11 |
A |
G |
3: 88,655,230 (GRCm39) |
V357A |
probably benign |
Het |
| Tcof1 |
T |
A |
18: 60,962,107 (GRCm39) |
K707N |
possibly damaging |
Het |
| Tfip11 |
C |
T |
5: 112,475,960 (GRCm39) |
R42C |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,574,623 (GRCm39) |
K260E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,553,663 (GRCm39) |
T22658A |
possibly damaging |
Het |
| Unc45b |
C |
T |
11: 82,827,638 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,172 (GRCm39) |
I97V |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,881,001 (GRCm39) |
V657A |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,097,898 (GRCm39) |
V166A |
probably benign |
Het |
|
| Other mutations in Map3k8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02458:Map3k8
|
APN |
18 |
4,334,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Map3k8
|
APN |
18 |
4,349,318 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03174:Map3k8
|
APN |
18 |
4,349,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Flojo
|
UTSW |
18 |
4,339,548 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
gnostic_gospel
|
UTSW |
18 |
4,333,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
juicy
|
UTSW |
18 |
4,339,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Sluggish
|
UTSW |
18 |
4,339,608 (GRCm39) |
splice site |
probably benign |
|
|
R0304:Map3k8
|
UTSW |
18 |
4,339,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1748:Map3k8
|
UTSW |
18 |
4,334,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Map3k8
|
UTSW |
18 |
4,332,389 (GRCm39) |
nonsense |
probably null |
|
|
R2310:Map3k8
|
UTSW |
18 |
4,349,001 (GRCm39) |
missense |
probably benign |
|
|
R3625:Map3k8
|
UTSW |
18 |
4,333,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Map3k8
|
UTSW |
18 |
4,340,647 (GRCm39) |
nonsense |
probably null |
|
|
R4921:Map3k8
|
UTSW |
18 |
4,349,124 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4930:Map3k8
|
UTSW |
18 |
4,349,215 (GRCm39) |
nonsense |
probably null |
|
|
R4934:Map3k8
|
UTSW |
18 |
4,339,548 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4956:Map3k8
|
UTSW |
18 |
4,339,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5241:Map3k8
|
UTSW |
18 |
4,340,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5549:Map3k8
|
UTSW |
18 |
4,340,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6317:Map3k8
|
UTSW |
18 |
4,348,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6326:Map3k8
|
UTSW |
18 |
4,340,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6910:Map3k8
|
UTSW |
18 |
4,340,801 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7010:Map3k8
|
UTSW |
18 |
4,334,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Map3k8
|
UTSW |
18 |
4,334,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Map3k8
|
UTSW |
18 |
4,349,076 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7348:Map3k8
|
UTSW |
18 |
4,340,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Map3k8
|
UTSW |
18 |
4,349,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8302:Map3k8
|
UTSW |
18 |
4,334,064 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8676:Map3k8
|
UTSW |
18 |
4,343,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8847:Map3k8
|
UTSW |
18 |
4,333,889 (GRCm39) |
missense |
|
|
|
R9068:Map3k8
|
UTSW |
18 |
4,340,557 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9352:Map3k8
|
UTSW |
18 |
4,349,170 (GRCm39) |
missense |
probably benign |
|
|
R9460:Map3k8
|
UTSW |
18 |
4,349,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Map3k8
|
UTSW |
18 |
4,333,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9548:Map3k8
|
UTSW |
18 |
4,349,141 (GRCm39) |
missense |
probably benign |
|
|
R9632:Map3k8
|
UTSW |
18 |
4,339,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAACTTGTGTCTGGCAGCCATTC -3'
(R):5'- GCCCTTTGGTCTCCAATGCAAAC -3'
Sequencing Primer
(F):5'- GCCACTGTGCATTCAATGAAG -3'
(R):5'- TGTAGACTCCCAGCAGGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation