|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 14|
|Is this an essential gene?||Possibly essential (E-score: 0.709)|
|Stock #||R4429 (G1)|
|Chromosomal Location||103219762-103267472 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 103227584 bp|
|Amino Acid Change||Leucine to Proline at position 592 (L592P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021324 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021324]|
|Predicted Effect||probably damaging
AA Change: L592P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L592P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit deficiencies in cellular and humoral immunity, susceptibility to infections, absence of lymph nodes and Peyer's patches, failure of isotype switching, and inflammation of exocrine organs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Map3k14||
(F):5'- CCTCCAGACTTAGTCTAAAGGATGC -3'
(R):5'- GCAGCCCAGGAACTAAGTTG -3'
(F):5'- CTTAGTCTAAAGGATGCTGGGAG -3'
(R):5'- ACTAAGTTGAGTGGGCACTGAATTC -3'