Incidental Mutation 'R7707:Traf7'
ID 628392
Institutional Source Beutler Lab
Gene Symbol Traf7
Ensembl Gene ENSMUSG00000052752
Gene Name TNF receptor-associated factor 7
Synonyms RFWD1
MMRRC Submission 067893-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R7707 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24727824-24746912 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 24729683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176237] [ENSMUST00000176324] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000176668] [ENSMUST00000177025] [ENSMUST00000177154] [ENSMUST00000177193] [ENSMUST00000177401] [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 null
Transcript: ENSMUST00000070777
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752

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 null
Transcript: ENSMUST00000088464
SMART Domains Protein: ENSMUSP00000085812
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
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 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 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: ENSMUST00000176324
Predicted Effect probably null
Transcript: ENSMUST00000176353
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752

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 null
Transcript: ENSMUST00000176652
SMART Domains Protein: ENSMUSP00000134759
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
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: 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: 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: 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: ENSMUST00000177401
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (72/73)
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
2900026A02Rik T A 5: 113,285,852 (GRCm39) M1L probably benign Het
Ap1s3 T C 1: 79,591,964 (GRCm39) K129E probably benign Het
Ap3b2 C T 7: 81,126,530 (GRCm39) V357I possibly damaging Het
Aplp1 A T 7: 30,142,523 (GRCm39) C140S probably damaging Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Asb4 A G 6: 5,430,968 (GRCm39) H401R probably benign Het
Bpi A T 2: 158,103,093 (GRCm39) E79D probably benign Het
Cant1 C T 11: 118,301,724 (GRCm39) V198M possibly damaging Het
Casp9 C T 4: 141,532,778 (GRCm39) R225C probably benign Het
Ccdc88b C A 19: 6,834,837 (GRCm39) R82L probably benign Het
Cfap251 A T 5: 123,391,950 (GRCm39) E28V probably benign Het
Chrm4 A G 2: 91,757,699 (GRCm39) T36A probably benign Het
Cntln A T 4: 84,802,853 (GRCm39) D51V probably damaging Het
Commd8 A T 5: 72,320,081 (GRCm39) F120Y probably damaging Het
Cpne6 A C 14: 55,753,771 (GRCm39) T410P probably damaging Het
Ctnnb1 A T 9: 120,781,931 (GRCm39) I315F possibly damaging Het
Dnah9 A G 11: 66,009,784 (GRCm39) V701A probably damaging Het
Efcab9 A G 11: 32,472,851 (GRCm39) Y199H possibly damaging Het
Endou T A 15: 97,610,983 (GRCm39) probably null Het
Fhip1a A G 3: 85,583,560 (GRCm39) V412A probably benign Het
Foxc2 C T 8: 121,844,641 (GRCm39) P430S probably benign Het
Gas2l3 T A 10: 89,250,220 (GRCm39) K299N probably damaging Het
Gm10375 G A 14: 43,842,332 (GRCm39) Q133* probably null Het
Gorab T C 1: 163,220,009 (GRCm39) D211G probably damaging Het
Grin3b T A 10: 79,811,735 (GRCm39) S747T possibly damaging Het
Gucd1 C A 10: 75,347,120 (GRCm39) probably benign Het
Gucy2d T C 7: 98,100,876 (GRCm39) F400L possibly damaging Het
Hivep3 G A 4: 119,591,156 (GRCm39) V55M Het
Igsf3 A G 3: 101,367,238 (GRCm39) N1157S probably benign Het
Irak3 A T 10: 119,982,489 (GRCm39) D324E probably damaging Het
Jup G T 11: 100,273,878 (GRCm39) A221D possibly damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lgr4 A G 2: 109,827,936 (GRCm39) probably null Het
Lrrc34 T C 3: 30,679,041 (GRCm39) D352G probably benign Het
Metrn C A 17: 26,014,384 (GRCm39) A175S probably benign Het
Nr2c1 T A 10: 94,024,027 (GRCm39) S411T probably benign Het
Or4c11 A G 2: 88,695,153 (GRCm39) D68G possibly damaging Het
Or5h22 T A 16: 58,894,634 (GRCm39) I270F possibly damaging Het
Orc3 T A 4: 34,598,691 (GRCm39) K172* probably null Het
Oxnad1 A G 14: 31,823,965 (GRCm39) probably null Het
Pcdh7 A G 5: 57,877,672 (GRCm39) N409S probably damaging Het
Pcdha11 A T 18: 37,144,845 (GRCm39) N312I probably benign Het
Pds5a G T 5: 65,767,476 (GRCm39) P121Q unknown Het
Phc1 A G 6: 122,300,739 (GRCm39) I380T unknown Het
Phldb3 C A 7: 24,326,022 (GRCm39) H535N possibly damaging Het
Proser3 T C 7: 30,239,216 (GRCm39) Q600R probably benign Het
Ptprz1 A G 6: 23,002,295 (GRCm39) M1462V probably benign Het
Pyroxd2 T C 19: 42,726,586 (GRCm39) T243A probably damaging Het
Ralgapa1 C A 12: 55,824,077 (GRCm39) D268Y probably null Het
Rapgef5 A C 12: 117,679,079 (GRCm39) Y419S probably damaging Het
Rbm24 C A 13: 46,582,605 (GRCm39) Q175K possibly damaging Het
Robo4 A T 9: 37,324,418 (GRCm39) D982V probably damaging Het
Sbf2 T C 7: 109,929,920 (GRCm39) probably null Het
Serping1 A T 2: 84,604,043 (GRCm39) probably null Het
Shank1 C T 7: 43,993,725 (GRCm39) S798F unknown Het
Slc15a5 A T 6: 138,056,745 (GRCm39) M57K probably damaging Het
Slc35g1 T A 19: 38,391,571 (GRCm39) C284* probably null Het
Src G A 2: 157,306,578 (GRCm39) D194N probably damaging Het
Srfbp1 A G 18: 52,616,726 (GRCm39) T84A probably damaging Het
Sspo A T 6: 48,438,461 (GRCm39) T1510S probably benign Het
Taar1 A T 10: 23,797,135 (GRCm39) I278F possibly damaging Het
Taf1a T C 1: 183,185,583 (GRCm39) Y281H possibly damaging Het
Thbs3 A T 3: 89,132,207 (GRCm39) Y798F possibly damaging Het
Tnpo1 T C 13: 99,027,295 (GRCm39) T7A probably benign Het
Trbv19 G A 6: 41,155,547 (GRCm39) V9I possibly damaging Het
Trim17 C T 11: 58,856,110 (GRCm39) Q56* probably null Het
Ttn G T 2: 76,732,406 (GRCm39) A4643E unknown Het
Ugt2b36 A G 5: 87,229,367 (GRCm39) probably null Het
Uso1 A G 5: 92,349,795 (GRCm39) *960W probably null Het
Usp2 G T 9: 43,984,757 (GRCm39) probably null Het
Wdr20rt A G 12: 65,272,981 (GRCm39) D148G probably damaging Het
Wif1 T C 10: 120,919,864 (GRCm39) F204L probably damaging Het
Wwp1 T C 4: 19,627,645 (GRCm39) D750G probably benign Het
Zfp1006 A T 8: 129,945,660 (GRCm39) C388* probably null Het
Zmynd12 A T 4: 119,302,063 (GRCm39) D234V probably damaging 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
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
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'- AGCATGTTGTGGGAAGACACC -3'
(R):5'- CAGCTCAGCCGTCAAATGATTC -3'

Sequencing Primer
(F):5'- CACCAGTGTGCATACAGGGTTG -3'
(R):5'- GCCGTCAAATGATTCCCAGTCTAG -3'
Posted On 2020-03-19