Incidental Mutation 'IGL01063:Traf2'
ID 278133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf2
Ensembl Gene ENSMUSG00000026942
Gene Name TNF receptor-associated factor 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01063
Quality Score
Status
Chromosome 2
Chromosomal Location 25407994-25436952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25414931 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P39429
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: 76,834,475 (GRCm39) V124I probably damaging Het
4930444P10Rik A T 1: 16,148,870 (GRCm39) L61* probably null Het
Abca7 T C 10: 79,847,131 (GRCm39) I1705T probably damaging Het
Ablim1 T A 19: 57,049,760 (GRCm39) I393F probably damaging Het
Adamts5 A G 16: 85,696,722 (GRCm39) L145P probably damaging Het
Ano6 T C 15: 95,846,310 (GRCm39) I537T probably damaging Het
AU018091 T C 7: 3,212,153 (GRCm39) I190V possibly damaging Het
Camk1 T A 6: 113,315,333 (GRCm39) D155V probably damaging Het
Cdh6 A C 15: 13,064,581 (GRCm39) I103S probably damaging Het
Cntnap1 A G 11: 101,072,614 (GRCm39) D537G probably benign Het
Col6a3 T C 1: 90,730,054 (GRCm39) K1144E probably damaging Het
Cpeb1 T A 7: 81,021,929 (GRCm39) E71D probably benign Het
Cps1 T C 1: 67,234,325 (GRCm39) L904P possibly damaging Het
Cyfip1 T A 7: 55,553,958 (GRCm39) F700I probably damaging Het
Dmp1 G A 5: 104,354,965 (GRCm39) M1I probably null Het
Efcab6 A T 15: 83,938,713 (GRCm39) M1K probably null Het
Extl2 A T 3: 115,821,131 (GRCm39) H312L possibly damaging Het
Fat4 C A 3: 38,944,728 (GRCm39) A1207D possibly damaging Het
Flnb T C 14: 7,926,518 (GRCm38) probably benign Het
Hdac10 G T 15: 89,008,071 (GRCm39) A593E possibly damaging Het
Hdhd2 T C 18: 77,052,969 (GRCm39) probably null Het
Kcnq2 A G 2: 180,751,582 (GRCm39) probably benign Het
Kdm7a A G 6: 39,142,064 (GRCm39) F405L probably damaging Het
Lypd6b C A 2: 49,833,642 (GRCm39) probably benign Het
Mki67 A T 7: 135,296,651 (GRCm39) D2794E possibly damaging Het
Mtmr14 T A 6: 113,243,287 (GRCm39) F40I probably damaging Het
Or2y3 G T 17: 38,393,544 (GRCm39) S108R possibly damaging Het
Or5p55 A T 7: 107,566,741 (GRCm39) I46F probably damaging Het
Or6d13 T A 6: 116,517,968 (GRCm39) C185S probably damaging Het
Or6x1 A T 9: 40,099,052 (GRCm39) I214F probably benign Het
Ppargc1a C A 5: 51,631,664 (GRCm39) V322L probably benign Het
Ppfibp1 T A 6: 146,931,195 (GRCm39) M917K probably benign Het
Prkg2 C T 5: 99,117,795 (GRCm39) probably null Het
Rfx4 A G 10: 84,704,246 (GRCm39) E296G possibly damaging Het
Rfx8 T A 1: 39,722,110 (GRCm39) K292* probably null Het
Scamp3 C A 3: 89,084,973 (GRCm39) probably benign Het
Scn4a A T 11: 106,221,190 (GRCm39) I823N possibly damaging Het
Sdk2 A G 11: 113,721,668 (GRCm39) V1316A probably damaging Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stard8 G T X: 98,116,694 (GRCm39) R983L probably damaging Het
Tbc1d23 A T 16: 57,013,038 (GRCm39) D311E probably benign Het
Tex21 T C 12: 76,245,592 (GRCm39) H568R probably benign Het
Tex35 T C 1: 156,932,667 (GRCm39) probably benign Het
Tgs1 T A 4: 3,591,292 (GRCm39) F442I possibly damaging Het
Trim56 A T 5: 137,143,354 (GRCm39) V54D possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp668 A T 7: 127,465,454 (GRCm39) C577S probably damaging Het
Other mutations in Traf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Traf2 APN 2 25,410,463 (GRCm39) nonsense probably null
IGL01010:Traf2 APN 2 25,410,450 (GRCm39) nonsense probably null
IGL01146:Traf2 APN 2 25,414,931 (GRCm39) missense probably benign 0.00
IGL02114:Traf2 APN 2 25,415,004 (GRCm39) missense possibly damaging 0.50
IGL02319:Traf2 APN 2 25,426,695 (GRCm39) missense probably damaging 0.99
accessory UTSW 2 25,427,100 (GRCm39) frame shift probably null
infinitum UTSW 2 25,410,458 (GRCm39) missense probably damaging 1.00
parallel UTSW 2 25,420,427 (GRCm39) missense probably benign 0.02
R0116:Traf2 UTSW 2 25,409,621 (GRCm39) missense probably damaging 1.00
R0238:Traf2 UTSW 2 25,427,138 (GRCm39) missense possibly damaging 0.90
R0238:Traf2 UTSW 2 25,427,138 (GRCm39) missense possibly damaging 0.90
R1741:Traf2 UTSW 2 25,414,495 (GRCm39) missense probably damaging 1.00
R3605:Traf2 UTSW 2 25,420,427 (GRCm39) missense probably benign 0.02
R3607:Traf2 UTSW 2 25,420,427 (GRCm39) missense probably benign 0.02
R4940:Traf2 UTSW 2 25,420,300 (GRCm39) missense probably null 0.48
R5296:Traf2 UTSW 2 25,410,452 (GRCm39) missense probably damaging 1.00
R5784:Traf2 UTSW 2 25,429,049 (GRCm39) missense probably benign 0.32
R7536:Traf2 UTSW 2 25,427,118 (GRCm39) missense possibly damaging 0.63
R7639:Traf2 UTSW 2 25,427,100 (GRCm39) frame shift probably null
R8684:Traf2 UTSW 2 25,410,458 (GRCm39) missense probably damaging 1.00
R9650:Traf2 UTSW 2 25,410,454 (GRCm39) missense probably damaging 1.00
Z1176:Traf2 UTSW 2 25,427,156 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16