|Institutional Source||Beutler Lab|
|Gene Name||mitogen-activated protein kinase kinase kinase 14|
|Is this an essential gene?||Probably essential (E-score: 0.764)|
|Stock #||R7275 (G1)|
|Chromosomal Location||103219762-103267472 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 103227022 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 648 (E648G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021324 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021324]|
|Predicted Effect||probably damaging
AA Change: E648G
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: E648G
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
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'- GTCACCTTTCCGTGTCACAG -3'
(R):5'- CCCAATCAAGCGTAGGGAAG -3'
(F):5'- CGTGTCACAGCCCCTCC -3'
(R):5'- TTGGTGGAGAGCGAACATG -3'