|Institutional Source||Beutler Lab|
|Gene Name||TNF receptor-associated factor 5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4445001 (G1)|
|Chromosomal Location||191997205-192092559 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 191997807 bp|
|Amino Acid Change||Tyrosine to Histidine at position 125 (Y125H)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085573]|
|Predicted Effect||possibly damaging
AA Change: Y428H
PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: Y428H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice show defects in lymphocyte activation but are otherwise viable and develop normally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Traf5||
(F):5'- CTCTGGTCCAAAAGCATCAGG -3'
(R):5'- TAGTGCTCAGATGACAGGCC -3'
(F):5'- GGTCCAAAAGCATCAGGGTCAC -3'
(R):5'- CCAGTTCTTTTAGAGGGGGAGAC -3'