Incidental Mutation 'BB013:Map3k3'
ID 642767
Institutional Source Beutler Lab
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) question?
Stock # BB013
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 105975439-106046272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106036548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 225 (S225P)
Ref Sequence ENSEMBL: ENSMUSP00000002044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002044]
AlphaFold Q61084
Predicted Effect probably damaging
Transcript: ENSMUST00000002044
AA Change: S225P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002044
Gene: ENSMUSG00000020700
AA Change: S225P

DomainStartEndE-ValueType
PB1 44 123 1.04e-18 SMART
S_TKc 362 622 4.23e-95 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
BC016579 C A 16: 45,449,825 (GRCm39) D198Y probably damaging Het
Cep170 A G 1: 176,588,979 (GRCm39) S549P probably damaging Het
Cnih3 T C 1: 181,277,566 (GRCm39) L96P probably damaging Het
Cnn2 T A 10: 79,829,160 (GRCm39) L168Q probably damaging Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Cnot10 A G 9: 114,446,883 (GRCm39) C398R probably damaging Het
Dcaf4 C A 12: 83,580,703 (GRCm39) Y212* probably null Het
Dmxl2 T C 9: 54,335,326 (GRCm39) T665A probably benign Het
Dnmt1 C A 9: 20,818,855 (GRCm39) A1609S unknown Het
Dzip1 T C 14: 119,120,911 (GRCm39) D682G probably benign Het
Fam76a A G 4: 132,629,405 (GRCm39) L249P probably damaging Het
Fgf10 T C 13: 118,925,752 (GRCm39) M177T probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Itln1 G A 1: 171,359,261 (GRCm39) T73I probably benign Het
Jkamp T C 12: 72,141,590 (GRCm39) Y197H probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lcor T C 19: 41,571,008 (GRCm39) F67S probably benign Het
Lmf2 G A 15: 89,236,624 (GRCm39) P514L probably damaging Het
Lmntd2 G T 7: 140,790,258 (GRCm39) P610Q probably damaging Het
Mbd5 T C 2: 49,146,335 (GRCm39) Y182H probably damaging Het
Mki67 A G 7: 135,298,869 (GRCm39) V2055A possibly damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh8 C T 11: 67,169,732 (GRCm39) P17L possibly damaging Het
Myt1l T A 12: 29,861,651 (GRCm39) D144E unknown Het
Nfatc1 T C 18: 80,740,881 (GRCm39) Y373C probably damaging Het
Pacs2 C T 12: 113,024,372 (GRCm39) L418F probably damaging Het
Paxip1 A G 5: 27,996,207 (GRCm39) I24T unknown Het
Pdcl C T 2: 37,242,249 (GRCm39) G167E probably damaging Het
Pdcl A C 2: 37,242,251 (GRCm39) S166R probably damaging Het
Qsox1 C T 1: 155,688,533 (GRCm39) G5S unknown Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sass6 T A 3: 116,422,419 (GRCm39) S641T possibly damaging Het
Six1 T C 12: 73,090,583 (GRCm39) N194S probably benign Het
Tagap T C 17: 8,145,770 (GRCm39) probably null Het
Tiparp T C 3: 65,460,946 (GRCm39) V645A possibly damaging Het
Tm2d2 T C 8: 25,510,480 (GRCm39) V113A probably damaging Het
Tmprss6 C A 15: 78,337,050 (GRCm39) R352L probably benign Het
Tslp A G 18: 32,950,246 (GRCm39) E105G possibly damaging Het
Ttc41 A G 10: 86,611,911 (GRCm39) E1093G probably benign Het
Ush2a G A 1: 188,460,797 (GRCm39) R2686H probably benign Het
Usp54 A T 14: 20,627,036 (GRCm39) Y541N probably damaging Het
Vmn2r125 A G 4: 156,702,988 (GRCm39) D122G probably damaging Het
Other mutations in Map3k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Map3k3 APN 11 106,041,215 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CTTGCCTTTCAAACGAAGGGAG -3'
(R):5'- ACCTAAACATTCTGAGTGTTGGG -3'

Sequencing Primer
(F):5'- GGGAGAATGGTACCCTATAACCCTTC -3'
(R):5'- AACATTCTGAGTGTTGGGAAATTGAG -3'
Posted On 2020-08-01