Incidental Mutation 'IGL01951:Trafd1'
ID181043
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 #IGL01951
Quality Score
Status
Chromosome5
Chromosomal Location121371725-121385632 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 121374031 bp
ZygosityHeterozygous
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]
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: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Fli1 A T 9: 32,461,364 F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lin7a G A 10: 107,412,025 V186I possibly damaging Het
Lpcat2 G T 8: 92,918,047 S448I probably damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Stx2 A T 5: 128,992,265 F127L probably damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tbc1d23 A G 16: 57,186,685 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trem3 C T 17: 48,249,875 R125W probably damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zbtb6 T C 2: 37,429,331 E195G probably benign Het
Zc3h15 A G 2: 83,661,485 D306G probably damaging Het
Other mutations in Trafd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Trafd1 APN 5 121375050 missense possibly damaging 0.93
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 On2014-05-07