Incidental Mutation 'R1574:Traf7'
ID 202765
Institutional Source Beutler Lab
Gene Symbol Traf7
Ensembl Gene ENSMUSG00000052752
Gene Name TNF receptor-associated factor 7
Synonyms RFWD1
MMRRC Submission 045014-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.651) question?
Stock # R1574 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24727824-24746912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24729527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 428 (L428P)
Ref Sequence ENSEMBL: ENSMUSP00000135267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176652] [ENSMUST00000176353] [ENSMUST00000177193] [ENSMUST00000176324] [ENSMUST00000177401] [ENSMUST00000177154] [ENSMUST00000176668] [ENSMUST00000177025] [ENSMUST00000176237] [ENSMUST00000177405]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024958
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597

DomainStartEndE-ValueType
ANK 48 77 9.93e-5 SMART
ANK 81 110 1.9e-1 SMART
ANK 114 143 1.51e-4 SMART
ANK 147 176 1.15e0 SMART
ANK 188 217 2.6e-8 SMART
ANK 220 249 3.31e-1 SMART
SH3 284 346 3.62e-5 SMART
Pfam:Caskin1-CID 373 421 3e-26 PFAM
SAM 473 539 3.63e-15 SMART
SAM 542 609 5.41e-14 SMART
low complexity region 631 647 N/A INTRINSIC
low complexity region 667 679 N/A INTRINSIC
low complexity region 715 724 N/A INTRINSIC
low complexity region 841 863 N/A INTRINSIC
Pfam:Caskin-Pro-rich 878 966 3e-37 PFAM
low complexity region 1163 1168 N/A INTRINSIC
low complexity region 1190 1216 N/A INTRINSIC
low complexity region 1222 1232 N/A INTRINSIC
low complexity region 1269 1288 N/A INTRINSIC
low complexity region 1294 1312 N/A INTRINSIC
low complexity region 1315 1333 N/A INTRINSIC
low complexity region 1344 1359 N/A INTRINSIC
Pfam:Caskin-tail 1369 1431 7.2e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070777
AA Change: L428P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: L428P

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
RING 92 125 4.73e-6 SMART
coiled coil region 264 332 N/A INTRINSIC
WD40 344 383 8.35e-11 SMART
WD40 387 424 8.42e-7 SMART
WD40 427 463 2.09e-2 SMART
WD40 468 504 1.92e0 SMART
WD40 507 544 5.15e-2 SMART
WD40 547 588 1.78e-5 SMART
WD40 591 628 1.63e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088464
AA Change: L468P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: L468P

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 109 117 N/A INTRINSIC
RING 130 163 4.73e-6 SMART
Pfam:zf-TRAF 221 277 3.4e-8 PFAM
coiled coil region 304 372 N/A INTRINSIC
WD40 384 423 8.35e-11 SMART
WD40 427 464 8.42e-7 SMART
WD40 467 503 2.09e-2 SMART
WD40 508 544 1.92e0 SMART
WD40 547 584 5.15e-2 SMART
WD40 587 628 1.78e-5 SMART
WD40 631 668 1.63e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175732
Predicted Effect probably benign
Transcript: ENSMUST00000176086
SMART Domains Protein: ENSMUSP00000135845
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 103 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176178
SMART Domains Protein: ENSMUSP00000134808
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176652
AA Change: L468P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: L468P

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 109 117 N/A INTRINSIC
RING 130 163 4.73e-6 SMART
coiled coil region 304 372 N/A INTRINSIC
WD40 384 423 8.35e-11 SMART
WD40 427 464 8.42e-7 SMART
WD40 467 503 2.09e-2 SMART
WD40 508 544 1.92e0 SMART
WD40 547 584 5.15e-2 SMART
WD40 587 628 1.78e-5 SMART
WD40 631 668 1.63e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176353
AA Change: L428P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: L428P

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
RING 92 125 4.73e-6 SMART
coiled coil region 264 332 N/A INTRINSIC
WD40 344 383 8.35e-11 SMART
WD40 387 424 8.42e-7 SMART
WD40 427 463 2.09e-2 SMART
WD40 468 504 1.92e0 SMART
WD40 507 544 5.15e-2 SMART
WD40 547 588 1.78e-5 SMART
WD40 591 628 1.63e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176900
Predicted Effect probably benign
Transcript: ENSMUST00000177193
SMART Domains Protein: ENSMUSP00000135288
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 109 117 N/A INTRINSIC
RING 130 163 4.73e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176324
Predicted Effect probably benign
Transcript: ENSMUST00000177401
Predicted Effect probably benign
Transcript: ENSMUST00000177154
SMART Domains Protein: ENSMUSP00000135874
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 91 105 N/A INTRINSIC
low complexity region 110 118 N/A INTRINSIC
RING 131 164 4.73e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176668
SMART Domains Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177025
Predicted Effect probably benign
Transcript: ENSMUST00000176237
SMART Domains Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
RING 91 124 4.73e-6 SMART
Pfam:zf-TRAF 182 238 8.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177405
SMART Domains Protein: ENSMUSP00000135127
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177502
SMART Domains Protein: ENSMUSP00000134970
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
RING 24 68 4.24e-2 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,935,296 (GRCm39) N1276K probably damaging Het
Als2cl A G 9: 110,713,128 (GRCm39) E6G probably damaging Het
Ankrd12 A T 17: 66,293,269 (GRCm39) D721E probably benign Het
Anpep A G 7: 79,488,155 (GRCm39) probably null Het
Apeh A T 9: 107,969,925 (GRCm39) probably null Het
Apob A T 12: 8,040,839 (GRCm39) I655L possibly damaging Het
Atp2b1 T A 10: 98,832,810 (GRCm39) L437Q probably damaging Het
Cacna2d3 T A 14: 29,073,779 (GRCm39) R222S probably damaging Het
Cdc25b T A 2: 131,033,057 (GRCm39) probably benign Het
Cdon A G 9: 35,364,233 (GRCm39) probably benign Het
Cenpf C T 1: 189,384,910 (GRCm39) D2457N probably damaging Het
Cenpo A T 12: 4,265,433 (GRCm39) probably null Het
Ces2b G T 8: 105,562,521 (GRCm39) A284S probably benign Het
Clock T C 5: 76,390,679 (GRCm39) D311G probably damaging Het
Csmd3 T C 15: 47,559,257 (GRCm39) probably null Het
Dbil5 A G 11: 76,109,308 (GRCm39) M71V probably benign Het
Ddhd1 A C 14: 45,833,004 (GRCm39) L864R probably damaging Het
Ddx19a T C 8: 111,719,743 (GRCm39) probably benign Het
Dnah11 A G 12: 118,024,052 (GRCm39) C1900R probably damaging Het
Dnah2 A G 11: 69,405,514 (GRCm39) V666A probably benign Het
Dnah5 T A 15: 28,252,569 (GRCm39) M754K probably benign Het
Dnajc15 A T 14: 78,063,854 (GRCm39) S145T probably benign Het
Drap1 A G 19: 5,474,285 (GRCm39) F25S probably damaging Het
Drgx A G 14: 32,327,281 (GRCm39) probably benign Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Fbxo48 G T 11: 16,903,368 (GRCm39) probably benign Het
Fndc3a A T 14: 72,793,997 (GRCm39) I892N probably damaging Het
Gcn1 A G 5: 115,753,611 (GRCm39) T2321A probably benign Het
Gm1110 G T 9: 26,792,422 (GRCm39) probably benign Het
Gm5499 T C 17: 87,386,423 (GRCm39) noncoding transcript Het
Gmnc G T 16: 26,782,729 (GRCm39) probably benign Het
Greb1l A G 18: 10,554,997 (GRCm39) D1681G possibly damaging Het
Hc G A 2: 34,890,777 (GRCm39) probably benign Het
Hmcn2 A C 2: 31,294,899 (GRCm39) T2563P probably damaging Het
Iqcd A T 5: 120,738,300 (GRCm39) K39N probably damaging Het
Irag2 T G 6: 145,104,356 (GRCm39) probably benign Het
Kank2 A G 9: 21,685,871 (GRCm39) S668P probably damaging Het
Kcng1 T A 2: 168,110,961 (GRCm39) N68Y probably damaging Het
Kmt5b T A 19: 3,836,633 (GRCm39) probably null Het
Lama2 T A 10: 27,200,750 (GRCm39) I533F possibly damaging Het
Lcmt1 T A 7: 123,002,131 (GRCm39) I132N probably damaging Het
Mad2l2 G T 4: 148,227,429 (GRCm39) probably benign Het
Mcph1 T C 8: 18,851,428 (GRCm39) I807T probably damaging Het
Mdn1 A G 4: 32,722,315 (GRCm39) I2366V probably benign Het
Moxd1 T C 10: 24,176,217 (GRCm39) W558R probably damaging Het
Myh13 T C 11: 67,253,407 (GRCm39) probably benign Het
Myrf T C 19: 10,202,851 (GRCm39) D141G probably damaging Het
Ncoa7 T C 10: 30,570,097 (GRCm39) I249M probably damaging Het
Obox5 T C 7: 15,492,558 (GRCm39) V171A probably damaging Het
Or13e8 A T 4: 43,697,134 (GRCm39) V13D possibly damaging Het
Or2c1 T C 16: 3,657,521 (GRCm39) I228T probably damaging Het
Or5ak20 A T 2: 85,184,243 (GRCm39) V9E probably damaging Het
Or6c219 A G 10: 129,781,379 (GRCm39) L69P probably damaging Het
Or7a36 C A 10: 78,819,820 (GRCm39) N32K probably damaging Het
Parp4 A G 14: 56,839,752 (GRCm39) T487A probably damaging Het
Pclo A G 5: 14,729,845 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,500,669 (GRCm39) R1474C probably damaging Het
Qtrt2 A G 16: 43,692,195 (GRCm39) probably benign Het
Sart1 G A 19: 5,430,287 (GRCm39) P788L probably damaging Het
Sdk1 A G 5: 141,984,634 (GRCm39) T740A probably benign Het
Serpinb1c T C 13: 33,072,979 (GRCm39) D61G possibly damaging Het
Slc24a5 G A 2: 124,922,782 (GRCm39) G152S probably damaging Het
Slc6a4 A T 11: 76,910,022 (GRCm39) I426F possibly damaging Het
Stk33 C T 7: 108,879,027 (GRCm39) V441I probably benign Het
Sult1c2 A G 17: 54,143,927 (GRCm39) probably null Het
Tdpoz4 T A 3: 93,703,835 (GRCm39) V44E probably benign Het
Tmprss13 C A 9: 45,254,529 (GRCm39) T432K probably damaging Het
Tubb1 T C 2: 174,299,215 (GRCm39) I299T probably benign Het
Vmn1r158 A T 7: 22,489,772 (GRCm39) W146R probably damaging Het
Vmn1r42 A G 6: 89,822,059 (GRCm39) I170T possibly damaging Het
Vmn2r116 A T 17: 23,606,063 (GRCm39) H325L probably damaging Het
Zfp516 T A 18: 83,011,300 (GRCm39) L1111H possibly damaging Het
Zfp61 C G 7: 23,990,635 (GRCm39) K505N probably damaging Het
Zfp653 C A 9: 21,969,274 (GRCm39) E331* probably null Het
Zfp949 A T 9: 88,451,830 (GRCm39) K467* probably null Het
Other mutations in Traf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Traf7 APN 17 24,729,349 (GRCm39) unclassified probably benign
IGL01821:Traf7 APN 17 24,729,473 (GRCm39) missense probably damaging 0.99
IGL02263:Traf7 APN 17 24,732,020 (GRCm39) missense possibly damaging 0.47
IGL02307:Traf7 APN 17 24,732,020 (GRCm39) missense possibly damaging 0.47
IGL02321:Traf7 APN 17 24,732,020 (GRCm39) missense possibly damaging 0.47
IGL02323:Traf7 APN 17 24,732,020 (GRCm39) missense possibly damaging 0.47
IGL02636:Traf7 APN 17 24,731,964 (GRCm39) missense probably benign
Antediluvian UTSW 17 24,729,015 (GRCm39) missense probably damaging 1.00
Caveman UTSW 17 24,728,519 (GRCm39) missense probably damaging 1.00
Oldhat UTSW 17 24,731,266 (GRCm39) missense probably benign 0.28
R0109:Traf7 UTSW 17 24,732,900 (GRCm39) missense probably benign 0.12
R0109:Traf7 UTSW 17 24,732,900 (GRCm39) missense probably benign 0.12
R0193:Traf7 UTSW 17 24,729,525 (GRCm39) missense probably benign 0.22
R1426:Traf7 UTSW 17 24,730,655 (GRCm39) missense probably damaging 1.00
R1484:Traf7 UTSW 17 24,730,785 (GRCm39) missense possibly damaging 0.86
R1574:Traf7 UTSW 17 24,729,527 (GRCm39) missense probably damaging 1.00
R1728:Traf7 UTSW 17 24,731,353 (GRCm39) missense probably damaging 0.98
R1729:Traf7 UTSW 17 24,731,353 (GRCm39) missense probably damaging 0.98
R1784:Traf7 UTSW 17 24,731,353 (GRCm39) missense probably damaging 0.98
R1959:Traf7 UTSW 17 24,732,255 (GRCm39) missense probably damaging 1.00
R1994:Traf7 UTSW 17 24,729,476 (GRCm39) missense probably damaging 0.99
R2484:Traf7 UTSW 17 24,730,613 (GRCm39) missense probably damaging 1.00
R4682:Traf7 UTSW 17 24,732,348 (GRCm39) missense probably damaging 1.00
R4778:Traf7 UTSW 17 24,729,412 (GRCm39) unclassified probably benign
R4779:Traf7 UTSW 17 24,729,412 (GRCm39) unclassified probably benign
R4781:Traf7 UTSW 17 24,729,412 (GRCm39) unclassified probably benign
R5120:Traf7 UTSW 17 24,737,718 (GRCm39) nonsense probably null
R6594:Traf7 UTSW 17 24,728,813 (GRCm39) missense possibly damaging 0.92
R6885:Traf7 UTSW 17 24,731,266 (GRCm39) missense probably benign 0.28
R7396:Traf7 UTSW 17 24,728,519 (GRCm39) missense probably damaging 1.00
R7669:Traf7 UTSW 17 24,732,282 (GRCm39) nonsense probably null
R7707:Traf7 UTSW 17 24,729,683 (GRCm39) splice site probably null
R8087:Traf7 UTSW 17 24,731,038 (GRCm39) missense possibly damaging 0.69
R8557:Traf7 UTSW 17 24,729,015 (GRCm39) missense probably damaging 1.00
R8932:Traf7 UTSW 17 24,731,286 (GRCm39) missense probably damaging 1.00
R9457:Traf7 UTSW 17 24,746,737 (GRCm39) critical splice donor site probably benign
R9539:Traf7 UTSW 17 24,729,333 (GRCm39) missense probably damaging 0.98
R9679:Traf7 UTSW 17 24,746,737 (GRCm39) critical splice donor site probably benign
R9680:Traf7 UTSW 17 24,746,737 (GRCm39) critical splice donor site probably benign
Z1177:Traf7 UTSW 17 24,728,546 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGATGTCCCAAACCTGTAGG -3'
(R):5'- ACAGTGGCTTCTTCTGCATC -3'

Sequencing Primer
(F):5'- TGTCCCAAACCTGTAGGGATGG -3'
(R):5'- GGCTTCTTCTGCATCCTGTTGAC -3'
Posted On 2014-06-23