Incidental Mutation 'R4419:Trafd1'
ID 326993
Institutional Source Beutler Lab
Gene Symbol Trafd1
Ensembl Gene ENSMUSG00000042726
Gene Name TRAF type zinc finger domain containing 1
Synonyms Fln29, 1110008K06Rik
MMRRC Submission 041140-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4419 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 121509788-121523695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121511396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 474 (D474G)
Ref Sequence ENSEMBL: ENSMUSP00000113910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042312] [ENSMUST00000042614] [ENSMUST00000120784] [ENSMUST00000156158]
AlphaFold Q3UDK1
Predicted Effect probably benign
Transcript: ENSMUST00000042312
AA Change: D474G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: D474G

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 benign
Transcript: ENSMUST00000120784
AA Change: D474G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: D474G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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
Amdhd2 G A 17: 24,377,652 (GRCm39) P126L probably benign Het
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
B4galt1 A G 4: 40,853,537 (GRCm39) V90A probably benign Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Cblb T A 16: 51,867,621 (GRCm39) D76E possibly damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
D2hgdh T A 1: 93,757,535 (GRCm39) V150E probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Elmo2 T C 2: 165,153,675 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Ky G A 9: 102,419,909 (GRCm39) V639I probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P 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
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
Predicted Primers PCR Primer
(F):5'- CCGCATTATTCTGCATGTGTG -3'
(R):5'- TGTCTGCCATGACAGTCTGC -3'

Sequencing Primer
(F):5'- GTTTCTGAAGATCAAACTCAGGCC -3'
(R):5'- TGCCATGACAGTCTGCTAGTAACAG -3'
Posted On 2015-07-07