Incidental Mutation 'R4797:Traf1'
ID 369109
Institutional Source Beutler Lab
Gene Symbol Traf1
Ensembl Gene ENSMUSG00000026875
Gene Name TNF receptor-associated factor 1
Synonyms 4732496E14Rik
MMRRC Submission 042421-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4797 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 34831762-34851784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34846289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 42 (D42E)
Ref Sequence ENSEMBL: ENSMUSP00000144189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028234] [ENSMUST00000113064] [ENSMUST00000172159] [ENSMUST00000201690]
AlphaFold P39428
Predicted Effect probably benign
Transcript: ENSMUST00000028234
AA Change: D42E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028234
Gene: ENSMUSG00000026875
AA Change: D42E

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: D42E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108687
Gene: ENSMUSG00000026875
AA Change: D42E

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 noncoding transcript
Transcript: ENSMUST00000135870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156479
Predicted Effect probably benign
Transcript: ENSMUST00000172159
AA Change: D42E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130759
Gene: ENSMUSG00000026875
AA Change: D42E

DomainStartEndE-ValueType
low complexity region 174 187 N/A INTRINSIC
MATH 264 386 8.29e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201335
Predicted Effect probably benign
Transcript: ENSMUST00000201690
AA Change: D42E

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (69/72)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,008,945 (GRCm39) T1195A probably benign Het
Apobr G A 7: 126,186,756 (GRCm39) E756K probably benign Het
Arpc3 A G 5: 122,542,215 (GRCm39) E77G possibly damaging Het
Atp2b2 A T 6: 113,766,847 (GRCm39) M464K possibly damaging Het
Atxn7l2 A G 3: 108,111,866 (GRCm39) S379P probably damaging Het
Ccdc91 A T 6: 147,493,641 (GRCm39) E344D unknown Het
Cdc42bpg G A 19: 6,370,477 (GRCm39) R1190Q probably damaging Het
Cdh17 C A 4: 11,810,390 (GRCm39) Q694K probably benign Het
Chordc1 G T 9: 18,203,672 (GRCm39) probably benign Het
Copg1 A G 6: 87,880,450 (GRCm39) probably benign Het
Dcbld1 T C 10: 52,160,223 (GRCm39) V37A probably damaging Het
Ddb2 A G 2: 91,067,163 (GRCm39) probably benign Het
Dok5 A T 2: 170,672,042 (GRCm39) R115* probably null Het
Drc7 T C 8: 95,800,925 (GRCm39) I649T probably damaging Het
Efr3a A G 15: 65,729,437 (GRCm39) T713A probably damaging Het
Epg5 G A 18: 78,073,614 (GRCm39) D2494N probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Glb1l3 T C 9: 26,739,742 (GRCm39) D356G probably damaging Het
Gm1818 A T 12: 48,602,393 (GRCm39) noncoding transcript Het
Gsta5 A T 9: 78,211,679 (GRCm39) Y147F probably benign Het
Hcrtr2 C A 9: 76,161,816 (GRCm39) M191I probably damaging Het
Heatr1 G A 13: 12,426,929 (GRCm39) E685K probably benign Het
Hsd3b2 A T 3: 98,618,979 (GRCm39) L322Q probably damaging Het
Hsd3b9 T A 3: 98,363,747 (GRCm39) R62* probably null Het
Htra4 T C 8: 25,523,675 (GRCm39) T297A probably damaging Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Ints1 G A 5: 139,757,631 (GRCm39) T324M possibly damaging Het
Ints15 A G 5: 143,297,504 (GRCm39) F181S probably benign Het
Ints7 T C 1: 191,329,045 (GRCm39) V268A probably damaging Het
Kctd20 G A 17: 29,185,766 (GRCm39) V370I probably damaging Het
Lama1 T A 17: 68,023,770 (GRCm39) M55K probably benign Het
Larp1 C A 11: 57,938,806 (GRCm39) S494* probably null Het
Ldb3 A T 14: 34,277,470 (GRCm39) H262Q possibly damaging Het
Lepr C A 4: 101,637,244 (GRCm39) T711K possibly damaging Het
Mon2 T C 10: 122,852,422 (GRCm39) I984V probably benign Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Oasl1 A G 5: 115,066,217 (GRCm39) M112V probably benign Het
Or2d2b A T 7: 106,705,234 (GRCm39) M278K probably benign Het
Or6c214 A T 10: 129,590,390 (GRCm39) S310T probably benign Het
Or7c19 G T 8: 85,957,567 (GRCm39) A148S probably benign Het
P2ry1 T A 3: 60,910,881 (GRCm39) S7T probably benign Het
Pidd1 G T 7: 141,022,899 (GRCm39) R98S possibly damaging Het
Pkd1l1 A C 11: 8,911,340 (GRCm39) F312L unknown Het
Pla2r1 A T 2: 60,334,524 (GRCm39) M416K possibly damaging Het
Pold1 T C 7: 44,191,325 (GRCm39) E194G possibly damaging Het
Poldip2 T A 11: 78,404,813 (GRCm39) Y77N probably damaging Het
Ppp2r3d G T 9: 101,089,179 (GRCm39) N381K probably benign Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsu1 A G 2: 13,221,537 (GRCm39) probably benign Het
Selenoi T A 5: 30,457,740 (GRCm39) W90R probably damaging Het
Spag17 T A 3: 99,891,795 (GRCm39) D216E possibly damaging Het
Spata31 C A 13: 65,070,556 (GRCm39) Y901* probably null Het
Ssrp1 T A 2: 84,876,066 (GRCm39) Y607* probably null Het
Stk10 T A 11: 32,548,471 (GRCm39) N346K probably benign Het
Surf1 G T 2: 26,806,358 (GRCm39) probably benign Het
Synj2 A T 17: 6,084,163 (GRCm39) E283V probably damaging Het
Tg G A 15: 66,629,855 (GRCm39) probably null Het
Ttn T C 2: 76,571,209 (GRCm39) I26561M probably damaging Het
Ubp1 T C 9: 113,785,070 (GRCm39) Y128H probably damaging Het
Vmn1r216 T A 13: 23,283,506 (GRCm39) I63K probably benign Het
Vmn1r49 T A 6: 90,049,612 (GRCm39) H130L probably benign Het
Vmn2r90 C T 17: 17,932,567 (GRCm39) T158I probably damaging Het
Vps13d T C 4: 144,780,725 (GRCm39) S885G 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
R0220:Traf1 UTSW 2 34,839,115 (GRCm39) missense probably benign
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
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'- AGCAAACTCATTGTGGGTTCAAG -3'
(R):5'- CACCCATGGTTTCGAAGACC -3'

Sequencing Primer
(F):5'- TATGAGACCAGGTCCTGATTAGCC -3'
(R):5'- CCATGGTTTCGAAGACCTTAGCAG -3'
Posted On 2016-02-04