Incidental Mutation 'IGL03028:Map3k3'
ID 408270
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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03028
Quality Score
Status
Chromosome 11
Chromosomal Location 106084613-106155446 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 106110751 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 45 (V45G)
Ref Sequence ENSEMBL: ENSMUSP00000002044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002044]
AlphaFold Q61084
Predicted Effect probably damaging
Transcript: ENSMUST00000002044
AA Change: V45G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002044
Gene: ENSMUSG00000020700
AA Change: V45G

DomainStartEndE-ValueType
PB1 44 123 1.04e-18 SMART
S_TKc 362 622 4.23e-95 SMART
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,594,762 V86G probably benign Het
Adgra3 A T 5: 50,016,852 W115R probably benign Het
Ahr G A 12: 35,504,710 A470V probably benign Het
AI481877 A C 4: 59,094,274 I150S possibly damaging Het
Aoah A T 13: 20,816,582 Q62L possibly damaging Het
Arhgef12 A T 9: 43,026,228 D100E possibly damaging Het
Asic1 A G 15: 99,672,157 N120D probably benign Het
Atp2b2 A G 6: 113,759,142 L988P probably damaging Het
Atxn2 T A 5: 121,810,909 H789Q probably damaging Het
Clk1 G T 1: 58,421,102 S123* probably null Het
Col10a1 C T 10: 34,395,016 A328V probably benign Het
Col26a1 G T 5: 136,743,118 D415E possibly damaging Het
Ctla2a A G 13: 60,935,459 probably benign Het
Cwf19l2 A G 9: 3,430,622 E318G probably benign Het
Dnajc16 C T 4: 141,767,732 W523* probably null Het
Ehhadh T C 16: 21,762,394 E616G probably damaging Het
F5 A T 1: 164,193,000 K1015* probably null Het
Fam78a A G 2: 32,082,882 W9R possibly damaging Het
Frs2 A T 10: 117,073,933 M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 M200L probably benign Het
Gm44511 T C 6: 128,780,395 S179G probably damaging Het
Gpr25 G A 1: 136,260,812 S21L probably benign Het
Hsdl2 A G 4: 59,594,471 D34G probably damaging Het
Kcnt1 A G 2: 25,909,203 probably null Het
Kl A G 5: 150,991,550 Y914C probably damaging Het
Mppe1 A C 18: 67,227,684 C261W probably damaging Het
Nin T C 12: 70,035,270 T1640A probably benign Het
Olfr368 C T 2: 37,331,956 L70F probably damaging Het
Olfr483 T A 7: 108,104,173 M288K probably damaging Het
Olfr570 T A 7: 102,900,829 I154N possibly damaging Het
Olfr616 A G 7: 103,564,589 probably null Het
Olfr844 A T 9: 19,319,368 Y284F probably damaging Het
Oxr1 A G 15: 41,817,163 N166D probably damaging Het
Pank4 T A 4: 154,969,985 probably benign Het
Pgd A G 4: 149,161,627 probably null Het
Pitrm1 C T 13: 6,574,393 H831Y probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rad51 A C 2: 119,116,314 M1L possibly damaging Het
Recql5 G T 11: 115,894,431 S746R possibly damaging Het
Rhbdl3 C T 11: 80,323,461 Q133* probably null Het
Rpp40 A T 13: 35,904,511 L59Q probably damaging Het
Rtca C A 3: 116,493,092 probably benign Het
Rtkn C T 6: 83,147,872 Q108* probably null Het
Sirt6 C T 10: 81,627,541 probably benign Het
Slc9a4 G A 1: 40,610,377 V517M probably benign Het
Smarca2 G T 19: 26,678,312 probably benign Het
Snx33 A T 9: 56,926,451 D111E probably benign Het
Tgfb1 T C 7: 25,704,196 I311T probably damaging Het
Tgfb2 C T 1: 186,630,609 probably null Het
Tmem232 T C 17: 65,256,389 T670A probably benign Het
Tnfsf4 T C 1: 161,395,642 F21L possibly damaging Het
Ubr5 T C 15: 38,047,593 T47A probably benign Het
Unc79 T C 12: 103,173,526 V2515A possibly damaging Het
Utp6 T C 11: 79,953,624 K192E probably damaging Het
Vmn2r102 T C 17: 19,694,066 F631S possibly damaging Het
Zfp516 A C 18: 82,955,913 I79L possibly damaging Het
Other mutations in Map3k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Map3k3 APN 11 106150389 missense probably benign 0.01
BB003:Map3k3 UTSW 11 106145722 missense probably damaging 1.00
BB013:Map3k3 UTSW 11 106145722 missense probably damaging 1.00
R0421:Map3k3 UTSW 11 106148915 splice site probably benign
R0963:Map3k3 UTSW 11 106123792 missense probably benign 0.01
R3547:Map3k3 UTSW 11 106142553 nonsense probably null
R4523:Map3k3 UTSW 11 106148868 missense probably damaging 0.99
R5627:Map3k3 UTSW 11 106148602 missense probably benign 0.03
R5747:Map3k3 UTSW 11 106150410 missense probably benign 0.03
R5925:Map3k3 UTSW 11 106149550 missense probably benign 0.07
R6141:Map3k3 UTSW 11 106097048 missense probably benign 0.27
R6394:Map3k3 UTSW 11 106148883 missense probably benign
R6714:Map3k3 UTSW 11 106114222 missense possibly damaging 0.52
R7926:Map3k3 UTSW 11 106145722 missense probably damaging 1.00
R9372:Map3k3 UTSW 11 106142509 missense probably damaging 1.00
R9563:Map3k3 UTSW 11 106151034 missense probably damaging 1.00
R9564:Map3k3 UTSW 11 106151034 missense probably damaging 1.00
R9565:Map3k3 UTSW 11 106151034 missense probably damaging 1.00
R9722:Map3k3 UTSW 11 106142535 missense possibly damaging 0.66
Z1088:Map3k3 UTSW 11 106150353 missense possibly damaging 0.91
Posted On 2016-08-02