Incidental Mutation 'IGL02323:Traf7'
ID 288355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf7
Ensembl Gene ENSMUSG00000052752
Gene Name TNF receptor-associated factor 7
Synonyms RFWD1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.651) question?
Stock # IGL02323
Quality Score
Status
Chromosome 17
Chromosomal Location 24727824-24746912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24732020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 193 (C193F)
Ref Sequence ENSEMBL: ENSMUSP00000134946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000176237] [ENSMUST00000176668] [ENSMUST00000177154] [ENSMUST00000177025] [ENSMUST00000176324] [ENSMUST00000177401] [ENSMUST00000177405] [ENSMUST00000177193]
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 benign
Transcript: ENSMUST00000070777
AA Change: C194F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: C194F

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 benign
Transcript: ENSMUST00000088464
AA Change: C232F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: C232F

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 unknown
Transcript: ENSMUST00000175698
AA Change: A72S
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 noncoding transcript
Transcript: ENSMUST00000176633
Predicted Effect probably benign
Transcript: ENSMUST00000176353
AA Change: C194F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: C194F

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 benign
Transcript: ENSMUST00000176652
AA Change: C232F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: C232F

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 possibly damaging
Transcript: ENSMUST00000176237
AA Change: C193F

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752
AA Change: C193F

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 noncoding transcript
Transcript: ENSMUST00000176805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176900
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: 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: ENSMUST00000177025
Predicted Effect probably benign
Transcript: ENSMUST00000176324
Predicted Effect probably benign
Transcript: ENSMUST00000177502
AA Change: A64S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134970
Gene: ENSMUSG00000052752
AA Change: A64S

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
RING 24 68 4.24e-2 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: 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
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,326 (GRCm39) E344G probably damaging Het
Actrt2 T C 4: 154,751,255 (GRCm39) T294A probably benign Het
Afg1l C A 10: 42,330,506 (GRCm39) E54* probably null Het
Ahi1 T C 10: 20,847,933 (GRCm39) I447T probably damaging Het
Akap6 T C 12: 53,187,212 (GRCm39) I1542T probably benign Het
Ankrd34c A C 9: 89,612,033 (GRCm39) S103A possibly damaging Het
Apc C T 18: 34,448,863 (GRCm39) Q1886* probably null Het
Bcas3 A G 11: 85,386,671 (GRCm39) T148A probably damaging Het
Bud13 A G 9: 46,194,350 (GRCm39) T8A probably benign Het
Casr A T 16: 36,330,072 (GRCm39) Y421N probably damaging Het
Ccdc121rt2 A G 5: 112,597,600 (GRCm39) Y49C probably benign Het
Clasp2 T C 9: 113,697,794 (GRCm39) probably benign Het
Clca4b T C 3: 144,619,082 (GRCm39) T686A probably benign Het
Cntln T A 4: 84,968,026 (GRCm39) H748Q probably benign Het
Dmtf1 A T 5: 9,170,056 (GRCm39) D683E possibly damaging Het
Dnmt3l A G 10: 77,899,152 (GRCm39) K117R probably damaging Het
Eif2a T C 3: 58,456,024 (GRCm39) M341T possibly damaging Het
Epg5 T A 18: 78,056,047 (GRCm39) Y1740* probably null Het
Fam149b C T 14: 20,413,369 (GRCm39) T157I possibly damaging Het
Fam89b A G 19: 5,778,899 (GRCm39) probably null Het
Fbxo3 T A 2: 103,878,296 (GRCm39) N232K probably benign Het
Gnl3 A C 14: 30,739,359 (GRCm39) H16Q probably damaging Het
Gpld1 T G 13: 25,166,757 (GRCm39) V669G probably damaging Het
Grik3 A G 4: 125,579,783 (GRCm39) probably benign Het
Gzmg A C 14: 56,394,729 (GRCm39) Y180D probably benign Het
H2-M9 A T 17: 36,951,633 (GRCm39) Y281N probably damaging Het
Katnip T A 7: 125,442,001 (GRCm39) S637T probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mrs2 T A 13: 25,188,940 (GRCm39) I125F probably damaging Het
Nfam1 T A 15: 82,907,152 (GRCm39) N15I probably benign Het
Nol8 T A 13: 49,808,721 (GRCm39) probably benign Het
Obscn A G 11: 58,899,348 (GRCm39) V6483A possibly damaging Het
Or2a56 A T 6: 42,932,917 (GRCm39) I162F probably benign Het
Osbpl3 A G 6: 50,323,306 (GRCm39) probably null Het
Plaat3 G A 19: 7,552,357 (GRCm39) W24* probably null Het
Ppfibp2 A T 7: 107,337,836 (GRCm39) Q652H probably damaging Het
Rbm47 A G 5: 66,183,772 (GRCm39) V277A probably damaging Het
Robo3 G A 9: 37,333,497 (GRCm39) A716V probably benign Het
Scart1 G T 7: 139,808,572 (GRCm39) A828S probably benign Het
Semp2l1 A T 1: 32,584,785 (GRCm39) L375* probably null Het
Slc29a4 A G 5: 142,703,407 (GRCm39) E227G probably damaging Het
Slf1 T C 13: 77,199,413 (GRCm39) D656G possibly damaging Het
Sox1 A G 8: 12,446,692 (GRCm39) H111R possibly damaging Het
Spmip9 A G 6: 70,890,679 (GRCm39) probably benign Het
Svep1 G A 4: 58,070,236 (GRCm39) Q2517* probably null Het
Syndig1 G T 2: 149,741,707 (GRCm39) V98L probably benign Het
Synpo2 T C 3: 122,911,183 (GRCm39) E154G probably benign Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tmem200a T C 10: 25,869,328 (GRCm39) N314D probably benign Het
Tnfaip8l1 A T 17: 56,479,009 (GRCm39) T100S probably damaging Het
Trim12c C T 7: 103,997,473 (GRCm39) A28T probably benign Het
Trpc7 C A 13: 56,931,564 (GRCm39) V595L possibly damaging Het
Ttc39c A G 18: 12,869,800 (GRCm39) R575G probably null Het
Ttn T G 2: 76,681,919 (GRCm39) probably benign Het
Ttn C T 2: 76,553,609 (GRCm39) V31003M probably damaging Het
Ugt2b37 A T 5: 87,398,423 (GRCm39) probably benign Het
Uqcrb A T 13: 67,050,874 (GRCm39) probably benign Het
Usp33 T A 3: 152,076,024 (GRCm39) W415R probably benign Het
Vmn2r110 A T 17: 20,816,399 (GRCm39) D41E probably damaging Het
Vmn2r98 A T 17: 19,286,113 (GRCm39) I204F 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
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
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
Posted On 2015-04-16