Incidental Mutation 'R0220:Traf1'
ID 33763
Institutional Source Beutler Lab
Gene Symbol Traf1
Ensembl Gene ENSMUSG00000026875
Gene Name TNF receptor-associated factor 1
Synonyms 4732496E14Rik
MMRRC Submission 038469-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R0220 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 34831762-34851784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34839115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 70 (V70D)
Ref Sequence ENSEMBL: ENSMUSP00000130759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028234] [ENSMUST00000113064] [ENSMUST00000172159]
AlphaFold P39428
Predicted Effect probably benign
Transcript: ENSMUST00000028234
AA Change: V70D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028234
Gene: ENSMUSG00000026875
AA Change: V70D

DomainStartEndE-ValueType
Pfam:TRAF_BIRC3_bd 175 238 8.4e-19 PFAM
MATH 264 386 8.29e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113064
AA Change: V70D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108687
Gene: ENSMUSG00000026875
AA Change: V70D

DomainStartEndE-ValueType
low complexity region 174 187 N/A INTRINSIC
MATH 264 386 8.29e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129131
Predicted Effect probably benign
Transcript: ENSMUST00000172159
AA Change: V70D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130759
Gene: ENSMUSG00000026875
AA Change: V70D

DomainStartEndE-ValueType
low complexity region 174 187 N/A INTRINSIC
MATH 264 386 8.29e-20 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
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 (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice exhibit abnormal T cell functionality. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Gene trapped(5)
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,194 (GRCm39) probably null Het
Abcc5 A G 16: 20,187,852 (GRCm39) V863A probably benign Het
Anxa6 A C 11: 54,872,588 (GRCm39) probably null Het
Armc10 A G 5: 21,866,582 (GRCm39) K296R probably benign Het
Arpc2 T A 1: 74,287,293 (GRCm39) F38I probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bcl6 T A 16: 23,784,969 (GRCm39) H677L possibly damaging Het
Bcl7a G A 5: 123,489,982 (GRCm39) V49I probably damaging Het
Ccnj T C 19: 40,833,254 (GRCm39) L144P probably damaging Het
Cdh8 G T 8: 99,838,311 (GRCm39) P510T probably benign Het
Cgnl1 C A 9: 71,632,225 (GRCm39) K375N possibly damaging Het
Cubn C A 2: 13,361,520 (GRCm39) R1695L probably damaging Het
Cyp3a59 G A 5: 146,035,080 (GRCm39) V253I probably benign Het
Cyp4f13 A G 17: 33,148,476 (GRCm39) I208T probably damaging Het
Dennd4a A C 9: 64,759,727 (GRCm39) E277D probably damaging Het
Depdc1a G A 3: 159,229,542 (GRCm39) V625I probably benign Het
Dot1l A T 10: 80,621,692 (GRCm39) D448V probably damaging Het
Efhc1 A G 1: 21,037,582 (GRCm39) D253G probably damaging Het
Eme1 T A 11: 94,541,084 (GRCm39) E246V probably null Het
Foxred1 A G 9: 35,120,749 (GRCm39) L128P probably damaging Het
Gm4787 G T 12: 81,425,422 (GRCm39) S245R probably damaging Het
Gm5141 T A 13: 62,922,271 (GRCm39) K299N probably damaging Het
Greb1 C A 12: 16,732,287 (GRCm39) R1558L probably damaging Het
Ip6k3 A T 17: 27,364,203 (GRCm39) F282I probably damaging Het
Kdm2a T C 19: 4,374,947 (GRCm39) D288G possibly damaging Het
Kdm4d A T 9: 14,374,418 (GRCm39) V480E probably benign Het
Kif26a A T 12: 112,123,824 (GRCm39) Q143L probably damaging Het
Klhl41 G A 2: 69,500,829 (GRCm39) D97N probably benign Het
Krt34 C T 11: 99,929,519 (GRCm39) probably benign Het
Lcn11 A T 2: 25,667,843 (GRCm39) H77L probably benign Het
Megf6 G A 4: 154,342,672 (GRCm39) R529H probably damaging Het
Mipol1 A G 12: 57,503,936 (GRCm39) E368G probably damaging Het
Mtus1 A T 8: 41,447,609 (GRCm39) M442K probably damaging Het
Naca T C 10: 127,879,255 (GRCm39) probably benign Het
Nbea G A 3: 55,912,724 (GRCm39) T1021I probably benign Het
Nfib A T 4: 82,215,013 (GRCm39) V530E probably damaging Het
Nptx1 A G 11: 119,435,467 (GRCm39) V283A probably damaging Het
Opn5 A G 17: 42,907,495 (GRCm39) V127A probably benign Het
Or4c126 G T 2: 89,824,206 (GRCm39) L156F probably benign Het
Or5h22 A T 16: 58,895,095 (GRCm39) M116K probably damaging Het
Pcgf6 A G 19: 47,028,529 (GRCm39) V291A probably benign Het
Pilrb2 C A 5: 137,869,459 (GRCm39) R47L probably benign Het
Prom2 A C 2: 127,383,027 (GRCm39) S72A probably benign Het
Sema3e T C 5: 14,214,167 (GRCm39) F144S possibly damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smarcc2 A T 10: 128,319,505 (GRCm39) D798V probably benign Het
Taf5 T C 19: 47,068,999 (GRCm39) S563P probably damaging Het
Topaz1 A G 9: 122,578,368 (GRCm39) H426R possibly damaging Het
Tpgs1 T A 10: 79,511,271 (GRCm39) C138S possibly damaging Het
Ttn T C 2: 76,641,737 (GRCm39) Y13453C probably damaging Het
Ubxn4 T A 1: 128,183,931 (GRCm39) V97D possibly damaging Het
Ugt1a8 A T 1: 88,016,057 (GRCm39) I157L probably benign Het
Vmn2r13 A T 5: 109,304,332 (GRCm39) C700S probably damaging Het
Wee1 A T 7: 109,723,733 (GRCm39) D216V probably benign Het
Zc3h4 T C 7: 16,163,198 (GRCm39) Y533H unknown Het
Zfp1005 A T 2: 150,110,595 (GRCm39) Q428H unknown Het
Zfp81 A G 17: 33,555,698 (GRCm39) I43T possibly damaging Het
Zfp963 A T 8: 70,196,145 (GRCm39) Y103N probably benign Het
Zfp963 A T 8: 70,196,143 (GRCm39) Y103* probably null Het
Zzef1 G T 11: 72,756,792 (GRCm39) D1126Y probably damaging Het
Other mutations in Traf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Traf1 APN 2 34,833,905 (GRCm39) missense probably benign 0.00
IGL01993:Traf1 APN 2 34,836,879 (GRCm39) splice site probably benign
IGL02429:Traf1 APN 2 34,839,115 (GRCm39) missense probably benign
IGL02752:Traf1 APN 2 34,848,020 (GRCm39) missense probably benign 0.00
IGL02933:Traf1 APN 2 34,839,107 (GRCm39) missense possibly damaging 0.55
IGL03346:Traf1 APN 2 34,838,484 (GRCm39) missense probably benign 0.01
3-1:Traf1 UTSW 2 34,839,118 (GRCm39) critical splice acceptor site probably null
R2064:Traf1 UTSW 2 34,838,202 (GRCm39) missense probably benign 0.07
R4458:Traf1 UTSW 2 34,835,445 (GRCm39) missense probably damaging 1.00
R4797:Traf1 UTSW 2 34,846,289 (GRCm39) missense probably benign 0.17
R5398:Traf1 UTSW 2 34,835,447 (GRCm39) missense probably damaging 1.00
R6221:Traf1 UTSW 2 34,838,313 (GRCm39) missense probably benign 0.45
R6584:Traf1 UTSW 2 34,848,070 (GRCm39) missense probably damaging 1.00
R6792:Traf1 UTSW 2 34,846,287 (GRCm39) missense probably benign 0.00
R7350:Traf1 UTSW 2 34,838,245 (GRCm39) missense probably benign 0.11
R8331:Traf1 UTSW 2 34,838,370 (GRCm39) missense probably damaging 1.00
R9443:Traf1 UTSW 2 34,836,748 (GRCm39) missense probably benign 0.00
R9470:Traf1 UTSW 2 34,833,974 (GRCm39) missense probably benign 0.01
Z1177:Traf1 UTSW 2 34,835,447 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCCTGCCCTTCAGCATAATG -3'
(R):5'- AGGGCTGAGACTCCTAAAGTGGAAC -3'

Sequencing Primer
(F):5'- CTTGAGTGACGCTTCAACAAGAG -3'
(R):5'- CTCCTAAAGTGGAACAAAGTAGGC -3'
Posted On 2013-05-09