Incidental Mutation 'IGL01951:Trafd1'
ID 181043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trafd1
Ensembl Gene ENSMUSG00000042726
Gene Name TRAF type zinc finger domain containing 1
Synonyms Fln29, 1110008K06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01951
Quality Score
Status
Chromosome 5
Chromosomal Location 121509788-121523695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121512094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 399 (R399C)
Ref Sequence ENSEMBL: ENSMUSP00000113910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042312] [ENSMUST00000120784] [ENSMUST00000152265] [ENSMUST00000155379] [ENSMUST00000156158]
AlphaFold Q3UDK1
Predicted Effect possibly damaging
Transcript: ENSMUST00000042312
AA Change: R399C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: R399C

DomainStartEndE-ValueType
ZnF_C2H2 37 59 1.55e1 SMART
PDB:2D9K|A 78 137 7e-33 PDB
low complexity region 211 228 N/A INTRINSIC
ZnF_C2H2 291 316 2.57e2 SMART
internal_repeat_1 364 390 2.73e-6 PROSPERO
low complexity region 534 551 N/A INTRINSIC
low complexity region 561 573 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120784
AA Change: R399C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: R399C

DomainStartEndE-ValueType
ZnF_C2H2 37 59 1.55e1 SMART
PDB:2D9K|A 78 137 7e-33 PDB
low complexity region 211 228 N/A INTRINSIC
ZnF_C2H2 291 316 2.57e2 SMART
internal_repeat_1 364 390 3.07e-6 PROSPERO
low complexity region 531 545 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133138
Predicted Effect probably benign
Transcript: ENSMUST00000152265
SMART Domains Protein: ENSMUSP00000115159
Gene: ENSMUSG00000042726

DomainStartEndE-ValueType
ZnF_C2H2 37 59 1.55e1 SMART
PDB:2D9K|A 78 137 6e-35 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000155379
SMART Domains Protein: ENSMUSP00000118351
Gene: ENSMUSG00000042726

DomainStartEndE-ValueType
ZnF_C2H2 37 59 1.55e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156158
SMART Domains Protein: ENSMUSP00000143426
Gene: ENSMUSG00000042726

DomainStartEndE-ValueType
PDB:2D9K|A 1 32 3e-15 PDB
low complexity region 106 123 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202064
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to endotoxin shock and decreased susceptibility to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Trafd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Trafd1 APN 5 121,513,113 (GRCm39) missense possibly damaging 0.93
IGL01955:Trafd1 APN 5 121,513,217 (GRCm39) missense probably benign 0.00
R1136:Trafd1 UTSW 5 121,511,387 (GRCm39) missense possibly damaging 0.94
R1386:Trafd1 UTSW 5 121,517,715 (GRCm39) missense probably damaging 1.00
R1599:Trafd1 UTSW 5 121,517,720 (GRCm39) missense probably damaging 1.00
R2106:Trafd1 UTSW 5 121,511,274 (GRCm39) missense probably benign 0.00
R2989:Trafd1 UTSW 5 121,517,529 (GRCm39) missense probably damaging 0.99
R3895:Trafd1 UTSW 5 121,516,804 (GRCm39) missense probably benign 0.45
R4419:Trafd1 UTSW 5 121,511,396 (GRCm39) missense probably benign 0.00
R4536:Trafd1 UTSW 5 121,517,746 (GRCm39) critical splice acceptor site probably null
R4814:Trafd1 UTSW 5 121,512,079 (GRCm39) missense probably benign 0.01
R4822:Trafd1 UTSW 5 121,516,561 (GRCm39) missense probably damaging 1.00
R4939:Trafd1 UTSW 5 121,513,254 (GRCm39) missense probably benign 0.00
R5560:Trafd1 UTSW 5 121,511,366 (GRCm39) missense possibly damaging 0.68
R5849:Trafd1 UTSW 5 121,511,534 (GRCm39) missense probably damaging 1.00
R5980:Trafd1 UTSW 5 121,511,520 (GRCm39) missense probably damaging 0.99
R5982:Trafd1 UTSW 5 121,511,342 (GRCm39) missense probably damaging 1.00
R6919:Trafd1 UTSW 5 121,522,137 (GRCm39) nonsense probably null
R8128:Trafd1 UTSW 5 121,510,465 (GRCm39) missense possibly damaging 0.89
R8265:Trafd1 UTSW 5 121,511,340 (GRCm39) missense possibly damaging 0.95
R8756:Trafd1 UTSW 5 121,513,878 (GRCm39) missense probably damaging 1.00
R9046:Trafd1 UTSW 5 121,513,189 (GRCm39) missense probably benign
R9130:Trafd1 UTSW 5 121,516,573 (GRCm39) missense probably benign 0.01
R9173:Trafd1 UTSW 5 121,516,598 (GRCm39) missense possibly damaging 0.78
R9513:Trafd1 UTSW 5 121,516,837 (GRCm39) missense possibly damaging 0.89
R9699:Trafd1 UTSW 5 121,517,727 (GRCm39) missense probably benign 0.03
Z1176:Trafd1 UTSW 5 121,515,933 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07