|Institutional Source||Beutler Lab|
|Gene Name||TRAF3 interacting protein 2|
|Is this an essential gene?||Probably non essential (E-score: 0.106)|
|Stock #||R7923 (G1)|
|Chromosomal Location||39612934-39655307 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 39626455 bp|
|Amino Acid Change||Glutamine to Glutamic Acid at position 200 (Q200E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019987 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019987]|
|Predicted Effect||probably damaging
AA Change: Q200E
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: Q200E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for one null allele exhibit splenomegaly, lymphadenopathy, increased number of B cells, defective IL-17 signaling, and increased immunoglobulin levels (including auto-antibodies) whereas mice homozygous for another null allele lack these features except the defect in IL-17 signaling. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Traf3ip2||
(F):5'- CGCAATAGATGGCTGGGATC -3'
(R):5'- GTAGTACTGACAGTTCCATGGG -3'
(F):5'- TGACACTGGCCATGAATCAG -3'
(R):5'- TGACAGTTCCATGGGGCCTG -3'