Incidental Mutation 'IGL02114:Traf2'
ID280301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf2
Ensembl Gene ENSMUSG00000026942
Gene NameTNF receptor-associated factor 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02114
Quality Score
Status
Chromosome2
Chromosomal Location25517982-25546940 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25524992 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 286 (I286V)
Ref Sequence ENSEMBL: ENSMUSP00000109872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028311] [ENSMUST00000114234]
Predicted Effect probably benign
Transcript: ENSMUST00000028311
AA Change: I279V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028311
Gene: ENSMUSG00000026942
AA Change: I279V

DomainStartEndE-ValueType
RING 34 72 3.19e-3 SMART
Pfam:zf-TRAF 178 235 1.9e-22 PFAM
MATH 356 478 3.09e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114234
AA Change: I286V

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109872
Gene: ENSMUSG00000026942
AA Change: I286V

DomainStartEndE-ValueType
RING 34 79 3.42e-2 SMART
Pfam:zf-TRAF 185 242 2.4e-23 PFAM
Pfam:TRAF_BIRC3_bd 274 337 1.6e-34 PFAM
MATH 363 485 3.09e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151742
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Increased lethaltiy is observed with homozygous null mice. Offspring are runted and exhibit atrophic thymii and spleens with reduced numbers of lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Traf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Traf2 APN 2 25520451 nonsense probably null
IGL01010:Traf2 APN 2 25520438 nonsense probably null
IGL01063:Traf2 APN 2 25524919 missense probably benign 0.00
IGL01146:Traf2 APN 2 25524919 missense probably benign 0.00
IGL02319:Traf2 APN 2 25536683 missense probably damaging 0.99
accessory UTSW 2 25537088 frame shift probably null
parallel UTSW 2 25530415 missense probably benign 0.02
R0116:Traf2 UTSW 2 25519609 missense probably damaging 1.00
R0238:Traf2 UTSW 2 25537126 missense possibly damaging 0.90
R0238:Traf2 UTSW 2 25537126 missense possibly damaging 0.90
R1741:Traf2 UTSW 2 25524483 missense probably damaging 1.00
R3605:Traf2 UTSW 2 25530415 missense probably benign 0.02
R3607:Traf2 UTSW 2 25530415 missense probably benign 0.02
R4940:Traf2 UTSW 2 25530288 missense probably null 0.48
R5296:Traf2 UTSW 2 25520440 missense probably damaging 1.00
R5784:Traf2 UTSW 2 25539037 missense probably benign 0.32
R7536:Traf2 UTSW 2 25537106 missense possibly damaging 0.63
R7639:Traf2 UTSW 2 25537088 frame shift probably null
Z1176:Traf2 UTSW 2 25537144 missense probably damaging 0.99
Posted On2015-04-16