Incidental Mutation 'IGL03386:Traf3ip2'
ID420859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf3ip2
Ensembl Gene ENSMUSG00000019842
Gene NameTRAF3 interacting protein 2
SynonymsAct1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL03386
Quality Score
Status
Chromosome10
Chromosomal Location39612934-39655307 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39645708 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 421 (I421V)
Ref Sequence ENSEMBL: ENSMUSP00000019987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019987]
Predicted Effect probably benign
Transcript: ENSMUST00000019987
AA Change: I421V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000019987
Gene: ENSMUSG00000019842
AA Change: I421V

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
low complexity region 94 106 N/A INTRINSIC
low complexity region 164 179 N/A INTRINSIC
Pfam:SEFIR 391 533 1.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156016
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI481877 T C 4: 59,069,315 K704E possibly damaging Het
Arid2 T C 15: 96,361,574 F236L probably damaging Het
AU018091 T C 7: 3,161,267 Y274C probably damaging Het
BC024139 A G 15: 76,121,745 F419L probably benign Het
Cd300ld T G 11: 114,984,172 D212A probably benign Het
Ces1g T C 8: 93,325,812 H283R probably benign Het
Chac2 T A 11: 30,977,720 K66N probably benign Het
Emc1 T C 4: 139,363,781 probably null Het
Eml6 G A 11: 29,749,934 A1734V probably benign Het
Erich3 G A 3: 154,739,239 E548K possibly damaging Het
Gm3604 T A 13: 62,370,167 E105D possibly damaging Het
Gpr158 A G 2: 21,826,246 K719R probably damaging Het
Heatr6 T C 11: 83,759,377 S220P probably damaging Het
Kcnip4 T C 5: 48,482,547 Y74C probably damaging Het
Kmt2b T C 7: 30,573,971 H2380R possibly damaging Het
Lars2 A T 9: 123,453,390 K680* probably null Het
Macc1 T A 12: 119,445,863 M122K probably benign Het
Pbrm1 A G 14: 31,050,092 D381G probably damaging Het
Phf11d A G 14: 59,361,860 probably benign Het
Qrsl1 A G 10: 43,876,550 Y426H possibly damaging Het
Riok1 T A 13: 38,057,237 L456* probably null Het
Rps6kc1 A G 1: 190,799,570 L745P probably damaging Het
Sh3tc2 A T 18: 61,973,311 H137L probably benign Het
Shroom3 T A 5: 92,948,483 probably benign Het
Stac2 T A 11: 98,041,140 Q103L possibly damaging Het
Thnsl1 G A 2: 21,211,548 A38T probably benign Het
Vmn2r14 T C 5: 109,220,484 D214G possibly damaging Het
Other mutations in Traf3ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01941:Traf3ip2 APN 10 39634660 missense probably benign
IGL02097:Traf3ip2 APN 10 39654479 missense probably damaging 0.99
IGL02530:Traf3ip2 APN 10 39646906 missense possibly damaging 0.80
IGL02957:Traf3ip2 APN 10 39654410 missense probably damaging 1.00
IGL03034:Traf3ip2 APN 10 39626219 missense probably damaging 1.00
IGL03123:Traf3ip2 APN 10 39639222 missense possibly damaging 0.87
R0328:Traf3ip2 UTSW 10 39634673 missense probably damaging 0.96
R1282:Traf3ip2 UTSW 10 39626405 missense probably damaging 1.00
R1913:Traf3ip2 UTSW 10 39625940 missense probably benign 0.00
R2975:Traf3ip2 UTSW 10 39626540 missense probably benign 0.00
R4575:Traf3ip2 UTSW 10 39634654 missense probably damaging 0.97
R4576:Traf3ip2 UTSW 10 39634654 missense probably damaging 0.97
R4578:Traf3ip2 UTSW 10 39634654 missense probably damaging 0.97
R4670:Traf3ip2 UTSW 10 39639260 missense possibly damaging 0.76
R4680:Traf3ip2 UTSW 10 39639260 missense possibly damaging 0.76
R4681:Traf3ip2 UTSW 10 39639260 missense possibly damaging 0.76
R4710:Traf3ip2 UTSW 10 39639260 missense possibly damaging 0.76
R4742:Traf3ip2 UTSW 10 39639260 missense possibly damaging 0.76
R4760:Traf3ip2 UTSW 10 39645739 missense probably damaging 1.00
R4934:Traf3ip2 UTSW 10 39626100 missense probably damaging 1.00
R5079:Traf3ip2 UTSW 10 39626477 missense probably damaging 1.00
R5959:Traf3ip2 UTSW 10 39641341 missense probably benign 0.13
R6421:Traf3ip2 UTSW 10 39639404 splice site probably null
R6462:Traf3ip2 UTSW 10 39639247 missense probably benign 0.00
R7156:Traf3ip2 UTSW 10 39626177 missense possibly damaging 0.61
X0020:Traf3ip2 UTSW 10 39654519 missense probably damaging 0.97
Posted On2016-08-02