Incidental Mutation 'IGL01368:Map3k3'
| ID |
76014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map3k3
|
| Ensembl Gene |
ENSMUSG00000020700 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 3 |
| Synonyms |
MAPKKK3, Mekk3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
105975439-106046272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106041215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 395
(F395L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002044]
|
| AlphaFold |
Q61084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002044
AA Change: F395L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000002044
Gene: ENSMUSG00000020700
AA Change: F395L
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
44 |
123 |
1.04e-18 |
SMART |
|
S_TKc
|
362 |
622 |
4.23e-95 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129793
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. vascular remodeling does not take place normally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
A |
14: 103,288,770 (GRCm39) |
D93E |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,411 (GRCm39) |
Y566C |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,370,063 (GRCm39) |
|
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
| Bcl2a1a |
T |
A |
9: 88,839,500 (GRCm39) |
W133R |
probably damaging |
Het |
| Ckm |
C |
T |
7: 19,150,712 (GRCm39) |
Q184* |
probably null |
Het |
| Clk4 |
T |
A |
11: 51,171,999 (GRCm39) |
Y246* |
probably null |
Het |
| Cyp3a57 |
T |
C |
5: 145,305,878 (GRCm39) |
S121P |
probably damaging |
Het |
| Eif1ad15 |
C |
T |
12: 88,287,858 (GRCm39) |
D132N |
unknown |
Het |
| Gm8011 |
T |
C |
14: 42,287,831 (GRCm39) |
|
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,367,451 (GRCm39) |
F434S |
probably benign |
Het |
| Gpr158 |
G |
T |
2: 21,831,909 (GRCm39) |
W1003L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,010 (GRCm39) |
E34G |
probably damaging |
Het |
| Igkv16-104 |
G |
T |
6: 68,402,594 (GRCm39) |
R2S |
possibly damaging |
Het |
| Myof |
T |
A |
19: 37,924,905 (GRCm39) |
T1161S |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,257,299 (GRCm39) |
S217P |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,142,848 (GRCm39) |
N687K |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,105,381 (GRCm39) |
I295V |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,948,450 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,829 (GRCm39) |
E104G |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,476 (GRCm39) |
V297D |
probably damaging |
Het |
| Prss1l |
A |
G |
6: 41,373,620 (GRCm39) |
D161G |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,618 (GRCm39) |
D229G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,665,610 (GRCm39) |
T153A |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,766,862 (GRCm39) |
V127I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,751,694 (GRCm39) |
S214L |
possibly damaging |
Het |
| Tmem63a |
T |
C |
1: 180,797,797 (GRCm39) |
V616A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,612 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
A |
G |
17: 20,996,774 (GRCm39) |
L248P |
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,945 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Map3k3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03028:Map3k3
|
APN |
11 |
106,001,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Map3k3
|
UTSW |
11 |
106,036,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Map3k3
|
UTSW |
11 |
106,036,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Map3k3
|
UTSW |
11 |
106,039,741 (GRCm39) |
splice site |
probably benign |
|
|
R0963:Map3k3
|
UTSW |
11 |
106,014,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3547:Map3k3
|
UTSW |
11 |
106,033,379 (GRCm39) |
nonsense |
probably null |
|
|
R4523:Map3k3
|
UTSW |
11 |
106,039,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5627:Map3k3
|
UTSW |
11 |
106,039,428 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5747:Map3k3
|
UTSW |
11 |
106,041,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5925:Map3k3
|
UTSW |
11 |
106,040,376 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6141:Map3k3
|
UTSW |
11 |
105,987,874 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6394:Map3k3
|
UTSW |
11 |
106,039,709 (GRCm39) |
missense |
probably benign |
|
|
R6714:Map3k3
|
UTSW |
11 |
106,005,048 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7926:Map3k3
|
UTSW |
11 |
106,036,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9372:Map3k3
|
UTSW |
11 |
106,033,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Map3k3
|
UTSW |
11 |
106,041,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Map3k3
|
UTSW |
11 |
106,041,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Map3k3
|
UTSW |
11 |
106,041,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Map3k3
|
UTSW |
11 |
106,033,361 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1088:Map3k3
|
UTSW |
11 |
106,041,179 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-10-07 |
Incidental Mutation