Incidental Mutation 'IGL01063:Traf2'
ID278133
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 #IGL01063
Quality Score
Status
Chromosome2
Chromosomal Location25517982-25546940 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 25524919 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 303 (C303F)
Ref Sequence ENSEMBL: ENSMUSP00000028311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028311] [ENSMUST00000114234]
Predicted Effect probably benign
Transcript: ENSMUST00000028311
AA Change: C303F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028311
Gene: ENSMUSG00000026942
AA Change: C303F

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 probably benign
Transcript: ENSMUST00000114234
AA Change: C310F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109872
Gene: ENSMUSG00000026942
AA Change: C310F

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
4930444P10Rik A T 1: 16,078,646 L61* probably null Het
Abca7 T C 10: 80,011,297 I1705T probably damaging Het
Ablim1 T A 19: 57,061,328 I393F probably damaging Het
Adamts5 A G 16: 85,899,834 L145P probably damaging Het
Ano6 T C 15: 95,948,429 I537T probably damaging Het
AU018091 T C 7: 3,162,313 I190V possibly damaging Het
Camk1 T A 6: 113,338,372 D155V probably damaging Het
Cdh6 A C 15: 13,064,495 I103S probably damaging Het
Cntnap1 A G 11: 101,181,788 D537G probably benign Het
Col6a3 T C 1: 90,802,332 K1144E probably damaging Het
Cpeb1 T A 7: 81,372,181 E71D probably benign Het
Cps1 T C 1: 67,195,166 L904P possibly damaging Het
Cyfip1 T A 7: 55,904,210 F700I probably damaging Het
Dmp1 G A 5: 104,207,099 M1I probably null Het
Efcab6 A T 15: 84,054,512 M1K probably null Het
Extl2 A T 3: 116,027,482 H312L possibly damaging Het
Fat4 C A 3: 38,890,579 A1207D possibly damaging Het
Flnb T C 14: 7,926,518 probably benign Het
Hdac10 G T 15: 89,123,868 A593E possibly damaging Het
Hdhd2 T C 18: 76,965,273 probably null Het
Kcnq2 A G 2: 181,109,789 probably benign Het
Kdm7a A G 6: 39,165,130 F405L probably damaging Het
Lypd6b C A 2: 49,943,630 probably benign Het
Mki67 A T 7: 135,694,922 D2794E possibly damaging Het
Mtmr14 T A 6: 113,266,326 F40I probably damaging Het
Olfr131 G T 17: 38,082,653 S108R possibly damaging Het
Olfr213 T A 6: 116,541,007 C185S probably damaging Het
Olfr476 A T 7: 107,967,534 I46F probably damaging Het
Olfr986 A T 9: 40,187,756 I214F probably benign Het
Ppargc1a C A 5: 51,474,322 V322L probably benign Het
Ppfibp1 T A 6: 147,029,697 M917K probably benign Het
Prkg2 C T 5: 98,969,936 probably null Het
Rfx4 A G 10: 84,868,382 E296G possibly damaging Het
Rfx8 T A 1: 39,682,950 K292* probably null Het
Scamp3 C A 3: 89,177,666 probably benign Het
Scn4a A T 11: 106,330,364 I823N possibly damaging Het
Sdk2 A G 11: 113,830,842 V1316A probably damaging Het
Setd2 T C 9: 110,573,673 V1794A probably damaging Het
Stard8 G T X: 99,073,088 R983L probably damaging Het
Tbc1d23 A T 16: 57,192,675 D311E probably benign Het
Tex21 T C 12: 76,198,818 H568R probably benign Het
Tex35 T C 1: 157,105,097 probably benign Het
Tgs1 T A 4: 3,591,292 F442I possibly damaging Het
Trim56 A T 5: 137,114,500 V54D possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp668 A T 7: 127,866,282 C577S probably damaging Het
Other mutations in Traf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Traf2 APN 2 25520451 nonsense probably null
IGL01010:Traf2 APN 2 25520438 nonsense probably null
IGL01146:Traf2 APN 2 25524919 missense probably benign 0.00
IGL02114:Traf2 APN 2 25524992 missense possibly damaging 0.50
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
R8684:Traf2 UTSW 2 25520446 missense probably damaging 1.00
Z1176:Traf2 UTSW 2 25537144 missense probably damaging 0.99
Posted On2015-04-16