Incidental Mutation 'IGL01368:Map3k3'
ID76014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k3
Ensembl Gene ENSMUSG00000020700
Gene Namemitogen-activated protein kinase kinase kinase 3
SynonymsMAPKKK3, Mekk3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01368
Quality Score
Status
Chromosome11
Chromosomal Location106084613-106155446 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106150389 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 395 (F395L)
Ref Sequence ENSEMBL: ENSMUSP00000002044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002044]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Map3k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03028:Map3k3 APN 11 106110751 missense probably damaging 1.00
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
Z1088:Map3k3 UTSW 11 106150353 missense possibly damaging 0.91
Posted On2013-10-07