Incidental Mutation 'IGL00420:Traf3'
ID4360
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
Stock #IGL00420
Quality Score
Status
Chromosome12
Chromosomal Location111166370-111267153 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111239067 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 94 (I94N)
Ref Sequence ENSEMBL: ENSMUSP00000058361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021706] [ENSMUST00000060274] [ENSMUST00000117269] [ENSMUST00000139162]
Predicted Effect probably benign
Transcript: ENSMUST00000021706
AA Change: I94N

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021706
Gene: ENSMUSG00000021277
AA Change: I94N

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: I94N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000058361
Gene: ENSMUSG00000021277
AA Change: I94N

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: I94N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112517
Gene: ENSMUSG00000021277
AA Change: I94N

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 damaging
Transcript: ENSMUST00000139162
AA Change: I94N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119010
Gene: ENSMUSG00000021277
AA Change: I94N

DomainStartEndE-ValueType
RING 52 87 5.85e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI 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.
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,777,602 S170T probably benign Het
Cep55 C A 19: 38,073,439 Q443K probably damaging Het
Ces1c T C 8: 93,106,673 E388G probably benign Het
Chd9 T C 8: 91,025,392 S1753P possibly damaging Het
Cse1l T A 2: 166,927,804 I343N probably damaging Het
Ctif T G 18: 75,437,176 M551L possibly damaging Het
Cyp2c29 A G 19: 39,321,699 probably benign Het
Filip1 G A 9: 79,817,944 T1131I probably damaging Het
Gm13941 G A 2: 111,091,848 Het
Klc3 T C 7: 19,396,295 E319G possibly damaging Het
Lonrf1 T C 8: 36,230,077 probably benign Het
Lrba A G 3: 86,359,782 E1593G probably benign Het
Mroh5 G A 15: 73,792,789 noncoding transcript Het
Mthfr T A 4: 148,041,270 M20K probably benign Het
Nsd2 C A 5: 33,883,003 N960K possibly damaging Het
Osgin1 T A 8: 119,445,046 V193E probably damaging Het
Pced1a A T 2: 130,419,178 C420S probably benign Het
Pkd2l1 C T 19: 44,157,636 probably null Het
Plekhg5 C A 4: 152,102,041 probably null Het
Prkg2 A G 5: 99,024,541 V105A probably benign Het
Rab11fip3 A G 17: 26,067,625 I518T probably benign Het
Rapgef5 T A 12: 117,714,182 V384D probably damaging Het
Sema4c A G 1: 36,553,920 probably benign Het
Slc27a2 A G 2: 126,580,917 E490G probably damaging Het
Slc28a3 A T 13: 58,574,300 L257I probably benign Het
Slc2a8 G T 2: 32,973,624 Q469K probably damaging Het
Slc44a1 T C 4: 53,553,550 V519A possibly damaging Het
Slco6d1 A G 1: 98,432,230 probably null Het
Strap T C 6: 137,745,523 S219P probably damaging Het
Tjp1 T C 7: 65,301,219 I1636V probably benign Het
Tle1 G A 4: 72,169,118 R126C possibly damaging Het
Trps1 G T 15: 50,846,870 T28K probably benign Het
Unc13c T A 9: 73,736,703 T1160S probably damaging Het
Vapb G A 2: 173,778,171 V228M probably benign Het
Wdr3 A T 3: 100,148,108 D506E probably damaging Het
Zfp119a A T 17: 55,865,792 C350* probably null Het
Zfp51 A T 17: 21,463,452 M110L probably benign Het
Zfp687 G A 3: 95,012,416 A15V probably damaging Het
Zkscan6 A G 11: 65,828,461 T436A possibly damaging Het
Other mutations in Traf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Traf3 APN 12 111252740 missense probably benign
IGL02318:Traf3 APN 12 111237597 missense probably benign
IGL02429:Traf3 APN 12 111243465 missense probably benign 0.19
IGL03088:Traf3 APN 12 111261843 missense probably damaging 0.99
bananasplit UTSW 12 111262036 missense probably damaging 1.00
han UTSW 12 111261576 missense
Hulk UTSW 12 111261576 missense probably damaging 1.00
JAX1:Traf3 UTSW 12 111260661 missense probably benign 0.21
JAX1:Traf3 UTSW 12 111262036 missense probably damaging 1.00
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
R4621:Traf3 UTSW 12 111260786 synonymous silent
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 nonsense probably null
R5912:Traf3 UTSW 12 111255349 missense probably benign 0.01
X0052:Traf3 UTSW 12 111252736 missense probably benign 0.41
Posted OnApr 20, 2012