Incidental Mutation 'IGL02429:Traf3'
ID293051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf3
Ensembl Gene ENSMUSG00000021277
Gene NameTNF receptor-associated factor 3
SynonymsLAP1, CRAF1, CD40bp, CAP-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02429
Quality Score
Status
Chromosome12
Chromosomal Location111166370-111267153 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111243465 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 165 (V165E)
Ref Sequence ENSEMBL: ENSMUSP00000021706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021706] [ENSMUST00000060274] [ENSMUST00000117269] [ENSMUST00000139162]
PDB Structure
Crystal structure of TRAF3/Cardif [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000021706
AA Change: V165E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021706
Gene: ENSMUSG00000021277
AA Change: V165E

DomainStartEndE-ValueType
RING 52 87 5.85e-2 SMART
Pfam:zf-TRAF 135 191 4.6e-18 PFAM
Pfam:zf-TRAF 191 250 9.9e-14 PFAM
coiled coil region 298 337 N/A INTRINSIC
MATH 419 542 5.69e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060274
AA Change: V165E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000058361
Gene: ENSMUSG00000021277
AA Change: V165E

DomainStartEndE-ValueType
RING 52 87 5.85e-2 SMART
Pfam:zf-TRAF 135 191 1.5e-17 PFAM
coiled coil region 273 312 N/A INTRINSIC
MATH 394 517 5.69e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117269
AA Change: V165E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112517
Gene: ENSMUSG00000021277
AA Change: V165E

DomainStartEndE-ValueType
RING 52 87 5.85e-2 SMART
Pfam:zf-TRAF 135 191 1.5e-17 PFAM
coiled coil region 273 312 N/A INTRINSIC
MATH 394 517 5.69e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139162
SMART Domains Protein: ENSMUSP00000119010
Gene: ENSMUSG00000021277

DomainStartEndE-ValueType
RING 52 87 5.85e-2 SMART
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 (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Several alternatively spliced transcript variants encoding three distinct isoforms have been reported. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutation of this gene results in progressive runting, hypoglycemia, and depletion of peripheral white blood cells, leading to death by 10 days of age. Immune responses to T-dependent antigen are impaired in lethally irradiated mice reconstituted with mutant cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,759,716 D245V probably damaging Het
Adamts16 G A 13: 70,787,170 probably benign Het
Arhgap36 A G X: 49,494,706 D77G possibly damaging Het
Asap1 A T 15: 64,167,740 M187K probably damaging Het
Aspm T C 1: 139,479,810 V2145A probably benign Het
Casc4 A G 2: 121,911,987 T306A probably benign Het
Cd46 T C 1: 195,085,424 T110A probably benign Het
Chl1 T A 6: 103,664,809 probably benign Het
Clca3b A G 3: 144,828,135 L493S probably damaging Het
Col11a2 C T 17: 34,042,292 T72M probably damaging Het
Cyfip1 T A 7: 55,871,982 probably benign Het
Frmd4b T C 6: 97,325,429 probably benign Het
Glyr1 A G 16: 5,019,376 M397T probably benign Het
Gtf2a1l G T 17: 88,668,713 M1I probably null Het
Hdac4 A G 1: 92,012,695 L154P probably benign Het
Ints8 A T 4: 11,231,720 C422S probably damaging Het
Kng2 T A 16: 23,012,079 K160I probably damaging Het
Lrrc23 C A 6: 124,778,167 A136S probably damaging Het
Ltf T C 9: 111,026,125 I402T possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mfsd4a T C 1: 132,028,499 H509R probably benign Het
Mthfd1l A G 10: 4,089,334 K782E probably damaging Het
Mvb12b G A 2: 33,827,788 R114W probably damaging Het
Myh4 A T 11: 67,258,982 K1818* probably null Het
Myo1h C T 5: 114,359,738 probably benign Het
Ncapd3 T A 9: 27,089,302 S1402T probably benign Het
Nutm2 A G 13: 50,469,480 N71S probably benign Het
Oas1c C A 5: 120,802,068 M344I probably benign Het
Olfr978 T A 9: 39,993,842 F11I probably benign Het
Phldb1 A G 9: 44,700,950 L1019P probably damaging Het
Plxnc1 T C 10: 94,882,591 E494G probably benign Het
Pole T C 5: 110,299,800 I734T probably benign Het
Ppp1r3b T C 8: 35,384,615 S203P probably benign Het
Pth2r G T 1: 65,346,839 M240I probably benign Het
Ptprr T A 10: 116,273,767 F394I probably damaging Het
Rabgef1 T C 5: 130,210,488 S265P possibly damaging Het
Rbpjl A G 2: 164,413,895 D353G possibly damaging Het
Rfc3 A G 5: 151,651,131 Y8H probably benign Het
Rph3a A T 5: 120,980,124 probably null Het
Runx1t1 A T 4: 13,865,294 probably benign Het
Slc37a1 T A 17: 31,300,509 probably null Het
Slc38a10 T C 11: 120,134,888 probably benign Het
Slc38a6 T C 12: 73,350,568 V328A probably benign Het
Slf2 T C 19: 44,941,728 S415P probably benign Het
Spata17 C A 1: 187,140,434 R60L possibly damaging Het
Svil T A 18: 5,118,369 D2237E probably benign Het
Swap70 T A 7: 110,263,972 N169K probably benign Het
Tnfrsf11a A G 1: 105,827,718 D505G probably benign Het
Traf1 A G 2: 34,949,103 V70A probably benign Het
Trpc5 T C X: 144,411,799 E570G probably damaging Het
Ubash3a A G 17: 31,241,305 N601S probably benign Het
Vmn2r30 C T 7: 7,334,244 C131Y possibly damaging Het
Vmn2r43 T C 7: 8,255,552 I221V probably benign Het
Vmn2r97 T A 17: 18,930,334 V481E possibly damaging Het
Wisp3 T C 10: 39,154,993 N178S probably benign Het
Other mutations in Traf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Traf3 APN 12 111239067 missense probably damaging 0.99
IGL02015:Traf3 APN 12 111252740 missense probably benign
IGL02318:Traf3 APN 12 111237597 missense probably benign
IGL03088:Traf3 APN 12 111261843 missense probably damaging 0.99
bananasplit UTSW 12 111262036 missense probably damaging 1.00
Han UTSW 12 111261576 missense probably damaging 1.00
Hulk UTSW 12 111261576 missense probably damaging 1.00
sundae UTSW 12 111255224 missense possibly damaging 0.80
R0023:Traf3 UTSW 12 111243478 nonsense probably null
R0143:Traf3 UTSW 12 111261576 missense probably damaging 1.00
R1453:Traf3 UTSW 12 111255323 missense probably damaging 0.96
R1507:Traf3 UTSW 12 111260760 missense probably benign 0.30
R1651:Traf3 UTSW 12 111262036 missense probably damaging 1.00
R1714:Traf3 UTSW 12 111242473 missense probably benign 0.01
R1996:Traf3 UTSW 12 111260661 missense probably benign 0.21
R1997:Traf3 UTSW 12 111260661 missense probably benign 0.21
R3946:Traf3 UTSW 12 111255245 missense possibly damaging 0.91
R4477:Traf3 UTSW 12 111248602 missense probably benign 0.00
R4645:Traf3 UTSW 12 111261966 missense probably damaging 1.00
R4723:Traf3 UTSW 12 111262036 missense probably damaging 1.00
R4820:Traf3 UTSW 12 111260770 missense possibly damaging 0.96
R5123:Traf3 UTSW 12 111243518 missense possibly damaging 0.52
R5775:Traf3 UTSW 12 111252728 missense possibly damaging 0.91
R5825:Traf3 UTSW 12 111255361 missense probably benign 0.03
R5912:Traf3 UTSW 12 111255349 missense probably benign 0.01
R6611:Traf3 UTSW 12 111237640 missense possibly damaging 0.76
R6933:Traf3 UTSW 12 111255224 missense possibly damaging 0.80
R7389:Traf3 UTSW 12 111237753 missense probably damaging 1.00
R7425:Traf3 UTSW 12 111260661 nonsense probably null
X0052:Traf3 UTSW 12 111252736 missense probably benign 0.41
Z1176:Traf3 UTSW 12 111261836 missense probably damaging 1.00
Z1177:Traf3 UTSW 12 111261492 frame shift probably null
Posted On2015-04-16