Incidental Mutation 'R4682:Traf7'
ID 397270
Institutional Source Beutler Lab
Gene Symbol Traf7
Ensembl Gene ENSMUSG00000052752
Gene Name TNF receptor-associated factor 7
Synonyms RFWD1
MMRRC Submission 041934-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R4682 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24727824-24746912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24732348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 159 (K159E)
Ref Sequence ENSEMBL: ENSMUSP00000135288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176237] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000176324] [ENSMUST00000176668] [ENSMUST00000176178] [ENSMUST00000177193] [ENSMUST00000177154] [ENSMUST00000177401] [ENSMUST00000177025] [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 possibly damaging
Transcript: ENSMUST00000070777
AA Change: K121E

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: K121E

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: K159E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: K159E

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: ENSMUST00000176237
AA Change: K120E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752
AA Change: K120E

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 possibly damaging
Transcript: ENSMUST00000176353
AA Change: K121E

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: K121E

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: K159E

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: K159E

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: ENSMUST00000176324
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: ENSMUST00000176178
SMART Domains Protein: ENSMUSP00000134808
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
Predicted Effect probably damaging
Transcript: ENSMUST00000177193
AA Change: K159E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135288
Gene: ENSMUSG00000052752
AA Change: K159E

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: ENSMUST00000177154
AA Change: K160E

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135874
Gene: ENSMUSG00000052752
AA Change: K160E

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: ENSMUST00000177401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
Predicted Effect probably benign
Transcript: ENSMUST00000177025
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
Predicted Effect probably benign
Transcript: ENSMUST00000177405
SMART Domains Protein: ENSMUSP00000135127
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Meta Mutation Damage Score 0.1093 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (45/48)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,505,925 (GRCm39) V637A probably benign Het
Aurkc G A 7: 6,998,538 (GRCm39) V33M probably null Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dapk1 T A 13: 60,898,961 (GRCm39) S810R probably benign Het
Dpm2 C T 2: 32,462,290 (GRCm39) probably benign Het
Fgb A T 3: 82,950,572 (GRCm39) F394Y probably benign Het
Fry A G 5: 150,346,219 (GRCm39) Y1576C probably damaging Het
Gabra4 T C 5: 71,815,152 (GRCm39) M1V probably null Het
Grhl1 T G 12: 24,658,432 (GRCm39) V359G probably benign Het
Hdac5 T C 11: 102,097,456 (GRCm39) S158G probably null Het
Hdgfl1 T C 13: 26,953,230 (GRCm39) E281G possibly damaging Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Inpp1 T C 1: 52,833,760 (GRCm39) N112S probably benign Het
Itih1 C A 14: 30,659,800 (GRCm39) A279S probably damaging Het
Mad1l1 A T 5: 140,286,007 (GRCm39) M296K possibly damaging Het
Mark4 T C 7: 19,179,097 (GRCm39) probably null Het
Mrpl48 T A 7: 100,198,576 (GRCm39) D192V probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nckap5 A T 1: 126,030,279 (GRCm39) probably null Het
Nlrp4d T C 7: 10,108,879 (GRCm39) T731A noncoding transcript Het
Or4d6 T C 19: 12,086,049 (GRCm39) Y287C probably damaging Het
Pcyt1b C A X: 92,789,970 (GRCm39) P318H probably damaging Het
Plekhm3 T C 1: 64,977,086 (GRCm39) D128G possibly damaging Het
Ppp1r9a A G 6: 4,905,477 (GRCm39) T11A possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rnf138 T A 18: 21,143,791 (GRCm39) Y112N probably damaging Het
Scn9a A T 2: 66,377,362 (GRCm39) V442E probably benign Het
Slc36a4 C A 9: 15,638,144 (GRCm39) S190* probably null Het
Slc46a1 A G 11: 78,359,502 (GRCm39) K378R possibly damaging Het
Snai2 T C 16: 14,526,150 (GRCm39) V267A probably benign Het
Srrm2 T A 17: 24,034,666 (GRCm39) S533T probably benign Het
St6galnac4 T A 2: 32,484,111 (GRCm39) M103K probably damaging Het
Tap2 C A 17: 34,433,006 (GRCm39) Y429* probably null Het
Zfp111 T G 7: 23,898,563 (GRCm39) K349N probably damaging Het
Zfp462 A G 4: 55,011,376 (GRCm39) Y1114C 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
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'- AGAGGTTGAGCTAAGACCCCAC -3'
(R):5'- CACCTTGGGGCCAATGAAAG -3'

Sequencing Primer
(F):5'- CTTCCGGGCACTAAGCTTGATG -3'
(R):5'- GAGTGGGCAAGGCACTC -3'
Posted On 2016-07-05