Incidental Mutation 'R6714:Map3k3'
ID 529263
Institutional Source Beutler Lab
Gene Symbol Map3k3
Ensembl Gene ENSMUSG00000020700
Gene Name mitogen-activated protein kinase kinase kinase 3
Synonyms MAPKKK3, Mekk3
MMRRC Submission 044832-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6714 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105975439-106046272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106005048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 69 (V69A)
Ref Sequence ENSEMBL: ENSMUSP00000002044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002044]
AlphaFold Q61084
Predicted Effect possibly damaging
Transcript: ENSMUST00000002044
AA Change: V69A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000002044
Gene: ENSMUSG00000020700
AA Change: V69A

DomainStartEndE-ValueType
PB1 44 123 1.04e-18 SMART
S_TKc 362 622 4.23e-95 SMART
Meta Mutation Damage Score 0.5553 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC061237 A T 14: 44,741,639 (GRCm39) R127S possibly damaging Het
Bub1 C A 2: 127,656,652 (GRCm39) M463I probably benign Het
Cdh23 T C 10: 60,167,609 (GRCm39) I1794V possibly damaging Het
Clspn C T 4: 126,459,561 (GRCm39) T320M probably damaging Het
Coch A C 12: 51,649,520 (GRCm39) D277A probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dnah7c A T 1: 46,779,966 (GRCm39) I3223F probably damaging Het
E2f6 G A 12: 16,869,003 (GRCm39) V109I probably damaging Het
Edem2 A T 2: 155,570,809 (GRCm39) probably null Het
Efcab8 A G 2: 153,631,130 (GRCm39) K187E probably damaging Het
Fam184a T C 10: 53,574,979 (GRCm39) N210S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 A G 2: 82,809,878 (GRCm39) I2066V probably benign Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gpc5 C T 14: 115,789,715 (GRCm39) Q530* probably null Het
Hmcn1 A T 1: 150,579,926 (GRCm39) I1937K probably damaging Het
Hpx G A 7: 105,244,302 (GRCm39) R269C probably damaging Het
Ice1 T C 13: 70,763,382 (GRCm39) probably null Het
Kbtbd4 A T 2: 90,736,183 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,783,297 (GRCm39) T310A probably benign Het
Lrp4 G A 2: 91,306,710 (GRCm39) S341N possibly damaging Het
Myh8 T C 11: 67,197,775 (GRCm39) Y1881H probably damaging Het
Nectin4 A T 1: 171,198,218 (GRCm39) probably benign Het
Nhsl1 G T 10: 18,400,459 (GRCm39) V562L possibly damaging Het
Or4k5 A T 14: 50,385,671 (GRCm39) I220K possibly damaging Het
Or6c205 T A 10: 129,086,809 (GRCm39) N135K possibly damaging Het
Pcdhga7 T A 18: 37,850,330 (GRCm39) V779E probably benign Het
Peg12 T A 7: 62,113,317 (GRCm39) H260L unknown Het
Qrfpr A T 3: 36,234,405 (GRCm39) M312K possibly damaging Het
Rbl2 T A 8: 91,833,415 (GRCm39) I730N possibly damaging Het
Rbm39 G C 2: 156,003,538 (GRCm39) L281V possibly damaging Het
Setd1b A G 5: 123,295,654 (GRCm39) E1074G unknown Het
Sfr1 A G 19: 47,723,405 (GRCm39) D303G probably damaging Het
Slc7a12 T C 3: 14,546,380 (GRCm39) V175A probably benign Het
Slc8a1 A T 17: 81,715,678 (GRCm39) L785Q probably damaging Het
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spg11 T C 2: 121,926,212 (GRCm39) I694M probably damaging Het
Tasor2 A T 13: 3,644,189 (GRCm39) F143L probably benign Het
Trpc1 A T 9: 95,605,326 (GRCm39) L111Q probably damaging Het
Tti1 A G 2: 157,848,971 (GRCm39) V756A possibly damaging Het
Unc93a2 T G 17: 7,643,937 (GRCm39) E124A probably benign Het
Usp32 A T 11: 84,917,696 (GRCm39) I777N probably damaging Het
Zbtb8b C T 4: 129,326,776 (GRCm39) E97K probably damaging Het
Zfhx4 A G 3: 5,306,897 (GRCm39) D41G probably damaging Het
Zfp493 A T 13: 67,934,499 (GRCm39) S151C probably benign Het
Zfp503 T C 14: 22,035,825 (GRCm39) T364A probably benign Het
Zfp507 T C 7: 35,487,152 (GRCm39) K772R probably damaging Het
Zfp804b T A 5: 6,819,239 (GRCm39) M1275L probably benign Het
Zfp811 G A 17: 33,016,736 (GRCm39) H434Y 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
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
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'- CAGTCCAAGAAGACAAATTTGACAG -3'
(R):5'- TCCAGAAACAGGAAACTCTCAGATG -3'

Sequencing Primer
(F):5'- ATGGTCTTAGACTCAGCCTCTGAAAC -3'
(R):5'- GCATAGCTGTCCTTCTTGG -3'
Posted On 2018-07-24