Incidental Mutation 'IGL02097:Traf3ip2'
ID279617
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 #IGL02097
Quality Score
Status
Chromosome10
Chromosomal Location39612934-39655307 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 39654479 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 540 (V540M)
Ref Sequence ENSEMBL: ENSMUSP00000019987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019987]
Predicted Effect probably damaging
Transcript: ENSMUST00000019987
AA Change: V540M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019987
Gene: ENSMUSG00000019842
AA Change: V540M

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: ENSMUST00000131629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214556
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 104,961,186 V415D possibly damaging Het
Adcy3 C T 12: 4,212,118 A1056V probably damaging Het
Adcy5 G A 16: 35,272,098 A610T probably damaging Het
Arhgap21 G A 2: 20,880,002 T788I probably benign Het
Asic1 T C 15: 99,694,686 probably benign Het
Cdhr4 T A 9: 107,993,000 M68K probably benign Het
Cdhr5 G T 7: 141,269,981 T637K probably damaging Het
Corin A T 5: 72,372,146 C289S probably damaging Het
Cpne4 T C 9: 104,686,502 V26A probably damaging Het
Csmd1 T C 8: 16,211,759 D908G probably null Het
Cyp2c29 A G 19: 39,307,620 D126G probably damaging Het
Ddx42 G A 11: 106,239,160 S426N probably benign Het
Dnah1 C T 14: 31,305,001 V689M possibly damaging Het
Dtwd1 A G 2: 126,164,795 T246A probably damaging Het
Fbn1 A T 2: 125,363,969 M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 N536S probably benign Het
Gnal G A 18: 67,217,208 probably benign Het
Gns A G 10: 121,390,693 T416A probably benign Het
Heatr5b G A 17: 78,817,514 T603I probably damaging Het
Hsp90b1 T A 10: 86,691,684 probably benign Het
Krt23 C T 11: 99,493,010 G19R probably benign Het
Lama2 C T 10: 27,138,960 R1584H probably benign Het
Lmbr1l C T 15: 98,917,891 V11M probably damaging Het
Man1a2 T C 3: 100,582,131 K511E possibly damaging Het
Mrgpra3 C A 7: 47,589,456 V241F possibly damaging Het
Myh3 A G 11: 67,082,924 D141G probably benign Het
Mylk2 G A 2: 152,915,136 C277Y probably damaging Het
Myo3b A T 2: 70,238,829 T471S probably damaging Het
Naip1 A G 13: 100,425,588 V1023A probably benign Het
Olfm5 T A 7: 104,154,231 T342S probably benign Het
Olfr1510 A G 14: 52,410,054 F273L probably benign Het
Olfr38 T A 6: 42,762,460 M136K probably damaging Het
Pglyrp4 T C 3: 90,735,603 F263L probably benign Het
Plekhh2 A T 17: 84,599,180 T1148S possibly damaging Het
Prrc2b T C 2: 32,191,501 probably benign Het
Rbm28 G T 6: 29,138,618 D398E possibly damaging Het
Rnf220 A G 4: 117,273,327 F234L probably benign Het
Sele T C 1: 164,053,093 S415P probably benign Het
Shpk T C 11: 73,203,995 L79P probably damaging Het
Slc35f4 C T 14: 49,306,246 A148T probably damaging Het
Slc6a20a G A 9: 123,660,619 P120S possibly damaging Het
Slc8a2 A G 7: 16,157,156 E701G possibly damaging Het
Slco1a1 T A 6: 141,940,039 I87F possibly damaging Het
Srebf1 T G 11: 60,202,824 D739A probably damaging Het
Thg1l A G 11: 45,950,228 Y175H probably benign Het
Wdr48 A G 9: 119,924,263 D644G probably damaging Het
Zbtb1 A T 12: 76,386,597 K452N probably damaging Het
Zfhx2 C T 14: 55,062,894 G2467R probably damaging Het
Zfp334 A T 2: 165,381,723 Y133* probably null Het
Other mutations in Traf3ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01941:Traf3ip2 APN 10 39634660 missense probably benign
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
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 On2015-04-16