|Institutional Source||Beutler Lab|
|Gene Name||TNF receptor associated factor 4|
|Synonyms||CART1, A530032M13Rik, msp2|
|Essential gene?||Probably essential (E-score: 0.938)|
|Stock #||R9205 (G1)|
|Chromosomal Location||78158499-78165589 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 78161101 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 186 (S186P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017530 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017530] [ENSMUST00000073705] [ENSMUST00000155571]|
AA Change: S186P
PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: S186P
|Coding Region Coverage||
|Validation Efficiency||95% (76/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations show respiratory problems, various skeletal defects, spina bifida and partial lethality around embryonic day 14. Homozygotes for an ENU-induced mutation exhibit postnatal lethality and hypopigmentation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Traf4||
(F):5'- ACTGGTACTGGTGGCTCTAG -3'
(R):5'- CTCAAGTGTGAATTCTGTGGC -3'
(F):5'- TACTGGTGGCTCTAGGACCAG -3'
(R):5'- CTACGAGGTACATGGGTCCAG -3'