Incidental Mutation 'IGL01774:Trafd1'
ID154040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trafd1
Ensembl Gene ENSMUSG00000042726
Gene NameTRAF type zinc finger domain containing 1
SynonymsFln29, 1110008K06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01774
Quality Score
Status
Chromosome5
Chromosomal Location121371725-121385632 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121375050 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 375 (V375A)
Ref Sequence ENSEMBL: ENSMUSP00000113910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042312] [ENSMUST00000120784] [ENSMUST00000146185] [ENSMUST00000152265] [ENSMUST00000155379] [ENSMUST00000156158]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042312
AA Change: V375A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: V375A

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: V375A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: V375A

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: ENSMUST00000146185
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,477,835 D708G probably damaging Het
Abca16 T C 7: 120,421,801 probably benign Het
Abcc5 T C 16: 20,378,457 D674G probably damaging Het
Abr A G 11: 76,464,299 probably benign Het
Arfgef3 A G 10: 18,743,615 I4T possibly damaging Het
Btla A G 16: 45,250,548 N290S possibly damaging Het
Catip C A 1: 74,368,483 R325S probably damaging Het
Cep120 A G 18: 53,706,830 L786P possibly damaging Het
Cnot8 A G 11: 58,115,307 I221V probably benign Het
Eloc A T 1: 16,645,789 D37E probably benign Het
Fabp12 A C 3: 10,247,694 N89K probably benign Het
Ficd G T 5: 113,739,012 R416L probably damaging Het
Frmd3 T C 4: 74,187,838 Y574H probably damaging Het
Frmd4a T C 2: 4,535,236 probably benign Het
Gatc G A 5: 115,341,017 Q45* probably null Het
Gm5414 T C 15: 101,626,975 D225G probably benign Het
Itpkc G T 7: 27,212,370 A592E probably benign Het
Kl G T 5: 150,988,483 V566L probably benign Het
Lpin1 T A 12: 16,558,476 D545V probably damaging Het
Mtcl1 T C 17: 66,385,885 Y483C probably damaging Het
Neb C T 2: 52,222,970 W67* probably null Het
Nrarp T C 2: 25,181,286 V59A possibly damaging Het
Nuf2 G A 1: 169,506,072 T345M probably benign Het
Olfr659 T C 7: 104,670,942 I80T probably benign Het
Pacs2 T A 12: 113,056,842 H278Q probably benign Het
Pot1a T C 6: 25,753,277 K420R probably benign Het
Rag2 A G 2: 101,630,047 Y234C probably damaging Het
Ralgds C T 2: 28,550,542 Q88* probably null Het
Rictor T C 15: 6,769,777 S365P probably damaging Het
Slco1a1 G A 6: 141,925,613 Q276* probably null Het
Tas2r134 C T 2: 51,628,148 T213I probably benign Het
Tecpr1 A G 5: 144,211,540 I349T probably damaging Het
Tnxb T C 17: 34,688,839 S1286P probably damaging Het
Vmn2r110 T A 17: 20,583,627 I229L probably benign Het
Vnn1 T C 10: 23,900,710 Y320H probably benign Het
Zfp990 T C 4: 145,536,948 V172A probably benign Het
Other mutations in Trafd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Trafd1 APN 5 121374031 missense possibly damaging 0.94
IGL01955:Trafd1 APN 5 121375154 missense probably benign 0.00
R1136:Trafd1 UTSW 5 121373324 missense possibly damaging 0.94
R1386:Trafd1 UTSW 5 121379652 missense probably damaging 1.00
R1599:Trafd1 UTSW 5 121379657 missense probably damaging 1.00
R2106:Trafd1 UTSW 5 121373211 missense probably benign 0.00
R2989:Trafd1 UTSW 5 121379466 missense probably damaging 0.99
R3895:Trafd1 UTSW 5 121378741 missense probably benign 0.45
R4419:Trafd1 UTSW 5 121373333 missense probably benign 0.00
R4536:Trafd1 UTSW 5 121379683 critical splice acceptor site probably null
R4814:Trafd1 UTSW 5 121374016 missense probably benign 0.01
R4822:Trafd1 UTSW 5 121378498 missense probably damaging 1.00
R4939:Trafd1 UTSW 5 121375191 missense probably benign 0.00
R5560:Trafd1 UTSW 5 121373303 missense possibly damaging 0.68
R5849:Trafd1 UTSW 5 121373471 missense probably damaging 1.00
R5980:Trafd1 UTSW 5 121373457 missense probably damaging 0.99
R5982:Trafd1 UTSW 5 121373279 missense probably damaging 1.00
R6919:Trafd1 UTSW 5 121384074 nonsense probably null
R8128:Trafd1 UTSW 5 121372402 missense possibly damaging 0.89
R8265:Trafd1 UTSW 5 121373277 missense possibly damaging 0.95
Z1176:Trafd1 UTSW 5 121377870 missense probably damaging 1.00
Posted On2014-02-04