Incidental Mutation 'IGL03123:Traf3ip2'
ID410065
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: 0.143) question?
Stock #IGL03123
Quality Score
Status
Chromosome10
Chromosomal Location39612934-39655307 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39639222 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 332 (D332G)
Ref Sequence ENSEMBL: ENSMUSP00000019987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019987]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019987
AA Change: D332G

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019987
Gene: ENSMUSG00000019842
AA Change: D332G

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: 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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,073,761 V96A probably damaging Het
Atp10b T C 11: 43,153,283 V112A probably benign Het
Caprin2 G T 6: 148,895,007 A36E probably damaging Het
Dnase1l2 T C 17: 24,442,252 M28V possibly damaging Het
Eci1 T A 17: 24,436,326 probably null Het
Edil3 T A 13: 89,131,736 S178T probably damaging Het
Epha5 A G 5: 84,331,226 probably null Het
Exoc3l4 A G 12: 111,422,113 E12G probably damaging Het
Frmd7 G A X: 50,895,958 T445I probably benign Het
Gatsl3 A T 11: 4,220,278 T119S probably damaging Het
Golga4 A G 9: 118,536,885 E344G probably damaging Het
H2-M10.4 A G 17: 36,461,920 Y57H probably damaging Het
Hnmt T C 2: 24,019,159 I81V probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Htra3 C T 5: 35,666,133 V280I probably damaging Het
Impg2 G T 16: 56,267,122 E992D probably damaging Het
Kctd4 T C 14: 75,962,978 W130R possibly damaging Het
Kdm3b T A 18: 34,809,491 probably null Het
Kmt2d G A 15: 98,861,771 T1202M unknown Het
Lrp11 A T 10: 7,602,925 D326V probably damaging Het
Lrrcc1 A T 3: 14,536,084 I59F probably damaging Het
Lyg2 G A 1: 37,915,764 probably benign Het
Med16 A G 10: 79,896,833 V699A probably damaging Het
Myo18b G T 5: 112,874,938 probably benign Het
Nrxn2 A G 19: 6,481,737 T744A probably damaging Het
Olfr397 T A 11: 73,964,986 I126N probably damaging Het
Oser1 A T 2: 163,411,389 probably benign Het
Pcdhgc5 T C 18: 37,819,913 V80A probably benign Het
Pi4ka C T 16: 17,282,675 G1857D possibly damaging Het
Pitpnc1 C T 11: 107,337,411 probably null Het
Pofut2 A G 10: 77,267,010 E137G probably benign Het
Rgsl1 A T 1: 153,825,941 W291R probably damaging Het
Rnf113a2 T C 12: 84,418,276 I314T probably benign Het
Rps2 C T 17: 24,720,289 probably benign Het
Setbp1 T C 18: 78,857,009 K1148E probably damaging Het
Slc45a2 A G 15: 11,012,655 D248G probably benign Het
Slit2 G T 5: 48,211,339 R352L probably damaging Het
Smg1 A G 7: 118,157,181 probably benign Het
Sycp2 A T 2: 178,352,479 C1217* probably null Het
Tbcb A G 7: 30,226,836 probably benign Het
Tinf2 T C 14: 55,680,889 D128G probably damaging Het
Tram1 A G 1: 13,589,605 F40L probably benign Het
Trank1 A T 9: 111,367,407 I1500L probably damaging Het
Wdfy4 G A 14: 33,162,870 P25L probably benign Het
Wnt5a G T 14: 28,522,925 Q376H probably damaging Het
Zfp526 A C 7: 25,224,624 T103P probably benign 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
IGL03386:Traf3ip2 APN 10 39645708 missense probably benign 0.03
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