|Institutional Source||Beutler Lab|
|Gene Name||TNF receptor-associated factor 6|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2075 (G1)|
|Chromosomal Location||101678429-101701669 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 101697053 bp|
|Amino Acid Change||Isoleucine to Leucine at position 383 (I383L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004949 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004949]|
|Predicted Effect||probably benign
AA Change: I383L
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: I383L
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the TNF receptor associated factor (TRAF) family of adaptor proteins that mediate signaling events from members of the TNF receptor and Toll/IL-1 receptor families to activate transcription factors such as NF-kappa-B and AP-1. The product of this gene is essential for perinatal and postnatal survival. Mice deficient in this protein exhibit osteopetrosis and defective in development of epidermal appendixes, normal B cell differentiation, lymph node organogenesis, interleukin-1 signaling, lipopolysaccharide signaling and neural tube closure. This protein possesses ubiquitin ligase activity. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Viability is reduced in mice lacking both functional copies of this gene, with death occuring just before birth or around weaning. Mutants exhibit osteopetrosis and immune defects including abnormal immune cell development and function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Traf6||
(F):5'- ATCAAACAGTTGGAGAGTCGCC -3'
(R):5'- GGCGTATTGTACCCTGGAAG -3'
(F):5'- GTCGCCTAGTAAGACAGGACC -3'
(R):5'- TGGAAGGGCCAGGGGAG -3'