Incidental Mutation 'R5982:Trafd1'
ID 481445
Institutional Source Beutler Lab
Gene Symbol Trafd1
Ensembl Gene ENSMUSG00000042726
Gene Name TRAF type zinc finger domain containing 1
Synonyms Fln29, 1110008K06Rik
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5982 (G1)
Quality Score 196.009
Status Validated
Chromosome 5
Chromosomal Location 121509788-121523695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121511342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 492 (D492V)
Ref Sequence ENSEMBL: ENSMUSP00000113910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042312] [ENSMUST00000042614] [ENSMUST00000120784] [ENSMUST00000156158]
AlphaFold Q3UDK1
Predicted Effect probably damaging
Transcript: ENSMUST00000042312
AA Change: D492V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: D492V

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 probably benign
Transcript: ENSMUST00000042614
SMART Domains Protein: ENSMUSP00000048345
Gene: ENSMUSG00000042744

DomainStartEndE-ValueType
low complexity region 224 234 N/A INTRINSIC
low complexity region 266 282 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
low complexity region 725 735 N/A INTRINSIC
low complexity region 1252 1265 N/A INTRINSIC
coiled coil region 1372 1398 N/A INTRINSIC
low complexity region 1551 1562 N/A INTRINSIC
low complexity region 1725 1741 N/A INTRINSIC
low complexity region 1892 1904 N/A INTRINSIC
low complexity region 2656 2666 N/A INTRINSIC
low complexity region 2857 2872 N/A INTRINSIC
low complexity region 2901 2917 N/A INTRINSIC
low complexity region 2921 2933 N/A INTRINSIC
low complexity region 3232 3246 N/A INTRINSIC
low complexity region 3275 3335 N/A INTRINSIC
low complexity region 3441 3448 N/A INTRINSIC
low complexity region 3473 3506 N/A INTRINSIC
low complexity region 3512 3533 N/A INTRINSIC
low complexity region 3540 3554 N/A INTRINSIC
low complexity region 3794 3822 N/A INTRINSIC
HECTc 4048 4412 4.78e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120784
AA Change: D492V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: D492V

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: 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
Meta Mutation Damage Score 0.0951 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Aebp1 C T 11: 5,817,911 (GRCm39) T62I possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign Het
Other mutations in Trafd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Trafd1 APN 5 121,513,113 (GRCm39) missense possibly damaging 0.93
IGL01951:Trafd1 APN 5 121,512,094 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- CCCGCATTATTCTGCATGTG -3'
(R):5'- ATGTCAAGCCGGAATCAGTG -3'

Sequencing Primer
(F):5'- GTTTCTGAAGATCAAACTCAGGCC -3'
(R):5'- CCGGAATCAGTGAAAGGCCC -3'
Posted On 2017-06-26