Incidental Mutation 'R8331:Traf1'
ID 644337
Institutional Source Beutler Lab
Gene Symbol Traf1
Ensembl Gene ENSMUSG00000026875
Gene Name TNF receptor-associated factor 1
Synonyms 4732496E14Rik
MMRRC Submission 067860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R8331 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 34831762-34851784 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34838370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 156 (D156G)
Ref Sequence ENSEMBL: ENSMUSP00000130759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028234] [ENSMUST00000113064] [ENSMUST00000172159]
AlphaFold P39428
Predicted Effect probably damaging
Transcript: ENSMUST00000028234
AA Change: D156G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028234
Gene: ENSMUSG00000026875
AA Change: D156G

DomainStartEndE-ValueType
Pfam:TRAF_BIRC3_bd 175 238 8.4e-19 PFAM
MATH 264 386 8.29e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113064
AA Change: D156G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108687
Gene: ENSMUSG00000026875
AA Change: D156G

DomainStartEndE-ValueType
low complexity region 174 187 N/A INTRINSIC
MATH 264 386 8.29e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172159
AA Change: D156G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130759
Gene: ENSMUSG00000026875
AA Change: D156G

DomainStartEndE-ValueType
low complexity region 174 187 N/A INTRINSIC
MATH 264 386 8.29e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C A 12: 84,650,726 (GRCm39) A545S probably damaging Het
Alox12e A T 11: 70,211,923 (GRCm39) S195R probably benign Het
Angpt1 T C 15: 42,539,653 (GRCm39) R69G probably damaging Het
Apob A G 12: 8,051,882 (GRCm39) Q1149R probably benign Het
As3mt A T 19: 46,697,445 (GRCm39) E71V probably damaging Het
Atp9a A T 2: 168,517,217 (GRCm39) V372E probably benign Het
Bmal1 C A 7: 112,912,703 (GRCm39) N586K probably benign Het
Bmp2k T C 5: 97,192,928 (GRCm39) F259S probably damaging Het
Cacna1c T C 6: 118,607,290 (GRCm39) T1364A Het
Casp7 T A 19: 56,429,397 (GRCm39) I261N probably damaging Het
Ccdc154 A G 17: 25,386,927 (GRCm39) K319E probably benign Het
Cdc42bpg C A 19: 6,363,477 (GRCm39) L446I probably benign Het
Cdkl3 A T 11: 51,917,704 (GRCm39) T334S probably benign Het
Cep250 T A 2: 155,832,173 (GRCm39) L1366Q probably damaging Het
Chp2 G A 7: 121,821,133 (GRCm39) D165N probably damaging Het
Ckap5 T A 2: 91,406,545 (GRCm39) M782K probably damaging Het
Col20a1 T A 2: 180,638,559 (GRCm39) I433N possibly damaging Het
Col4a2 A T 8: 11,463,985 (GRCm39) R320* probably null Het
Ctsc A G 7: 87,946,328 (GRCm39) H119R possibly damaging Het
Cubn T C 2: 13,345,053 (GRCm39) H2121R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
D630045J12Rik T C 6: 38,125,409 (GRCm39) E1535G probably damaging Het
Dido1 A T 2: 180,302,242 (GRCm39) D1887E probably benign Het
Dnah6 T C 6: 73,001,983 (GRCm39) E3903G probably benign Het
Eif4a3l2 T C 6: 116,529,323 (GRCm39) I400T probably damaging Het
Ep300 T C 15: 81,485,411 (GRCm39) S133P unknown Het
Ercc3 T C 18: 32,373,871 (GRCm39) S73P probably damaging Het
Fis1 T C 5: 136,991,987 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm17087 A G 17: 8,785,539 (GRCm39) W55R probably damaging Het
Gm3404 A T 5: 146,462,759 (GRCm39) S41C probably damaging Het
Greb1l T C 18: 10,458,706 (GRCm39) S96P possibly damaging Het
Irf3 C T 7: 44,650,383 (GRCm39) P300S probably damaging Het
Klk1b4 G A 7: 43,860,999 (GRCm39) C214Y probably damaging Het
Krtap5-3 T A 7: 141,755,563 (GRCm39) C133* probably null Het
Map3k12 T A 15: 102,410,766 (GRCm39) R448* probably null Het
Map4k2 C G 19: 6,402,853 (GRCm39) A738G probably damaging Het
Matn2 A T 15: 34,428,827 (GRCm39) K730N probably damaging Het
Mpp3 C T 11: 101,902,541 (GRCm39) probably null Het
N4bp2 T A 5: 65,964,943 (GRCm39) D997E probably damaging Het
Nav2 C T 7: 49,102,371 (GRCm39) P390S probably benign Het
Nme8 A G 13: 19,843,036 (GRCm39) S380P probably damaging Het
Nup210 C T 6: 91,030,648 (GRCm39) D878N possibly damaging Het
Odad3 C T 9: 21,903,007 (GRCm39) R441H probably damaging Het
Or4k49 A G 2: 111,494,727 (GRCm39) D52G possibly damaging Het
Or8c18 A G 9: 38,203,381 (GRCm39) I47V possibly damaging Het
Osbpl9 C A 4: 108,923,378 (GRCm39) W427L probably damaging Het
Pcdhb12 T C 18: 37,570,342 (GRCm39) V496A probably damaging Het
Pdlim1 G A 19: 40,218,995 (GRCm39) T212I possibly damaging Het
Phc2 C T 4: 128,605,987 (GRCm39) Q270* probably null Het
Pi4kb G A 3: 94,903,995 (GRCm39) R527Q probably null Het
Platr25 G T 13: 62,848,717 (GRCm39) H48Q probably benign Het
Polr1a C T 6: 71,953,163 (GRCm39) T1577M probably damaging Het
Ptprf C T 4: 118,083,263 (GRCm39) V915M probably benign Het
Ptprh A G 7: 4,552,480 (GRCm39) L928S probably damaging Het
Qrsl1 T C 10: 43,752,521 (GRCm39) N434S probably damaging Het
Slc44a4 T A 17: 35,140,545 (GRCm39) L246H probably damaging Het
Steap3 A T 1: 120,169,218 (GRCm39) C360S possibly damaging Het
Stk10 A G 11: 32,538,928 (GRCm39) T256A Het
Tatdn3 A T 1: 190,778,408 (GRCm39) L261Q probably damaging Het
Thnsl1 T A 2: 21,216,985 (GRCm39) F246L probably benign Het
Thsd7a A G 6: 12,471,157 (GRCm39) V487A Het
Tmem41a A C 16: 21,766,116 (GRCm39) probably null Het
Togaram2 G A 17: 72,036,221 (GRCm39) V924M probably damaging Het
Trabd T C 15: 88,969,131 (GRCm39) F185S probably damaging Het
Ttn T C 2: 76,710,482 (GRCm39) E8513G unknown Het
Txlna C A 4: 129,533,279 (GRCm39) S83I probably damaging Het
Utrn T G 10: 12,490,363 (GRCm39) T6P probably benign Het
Vmn2r26 T A 6: 124,038,887 (GRCm39) S821T probably benign Het
Wdhd1 A T 14: 47,509,702 (GRCm39) probably null Het
Wnk1 T C 6: 119,930,794 (GRCm39) I917V probably benign Het
Wscd2 A G 5: 113,688,996 (GRCm39) M1V probably null Het
Xkr6 A G 14: 64,056,392 (GRCm39) H357R unknown Het
Zfhx2 G T 14: 55,309,444 (GRCm39) T885K probably benign Het
Zfp583 C T 7: 6,320,554 (GRCm39) E153K probably benign Het
Zmynd11 A G 13: 9,745,190 (GRCm39) M243T probably benign 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
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
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'- ATGTGCTCTCGGTCCAACTG -3'
(R):5'- TATTTACTAAAGGCCCTCACTCTG -3'

Sequencing Primer
(F):5'- CCAACTGGCTCTGGTGGATG -3'
(R):5'- TAAAGGCCCTCACTCTGTCATCAG -3'
Posted On 2020-09-02