Incidental Mutation 'R6885:Traf7'
ID 536815
Institutional Source Beutler Lab
Gene Symbol Traf7
Ensembl Gene ENSMUSG00000052752
Gene Name TNF receptor-associated factor 7
Synonyms RFWD1
MMRRC Submission 045031-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.651) question?
Stock # R6885 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24727824-24746912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24731266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 257 (R257C)
Ref Sequence ENSEMBL: ENSMUSP00000134946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176237] [ENSMUST00000176353] [ENSMUST00000176324] [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 benign
Transcript: ENSMUST00000070777
AA Change: R256C

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: R256C

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: R296C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: R296C

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
AA Change: R257C

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752
AA Change: R257C

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: ENSMUST00000176353
AA Change: R256C

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: R256C

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: ENSMUST00000176324
Predicted Effect probably benign
Transcript: ENSMUST00000176652
AA Change: R296C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: R296C

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
Meta Mutation Damage Score 0.3382 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (58/59)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,119,332 (GRCm39) I1025M probably benign Het
Adamtsl5 T A 10: 80,179,465 (GRCm39) T164S probably benign Het
Ankar C T 1: 72,682,195 (GRCm39) A1239T unknown Het
Aox4 A T 1: 58,303,537 (GRCm39) S1192C probably damaging Het
Atl2 T C 17: 80,159,982 (GRCm39) D68G probably damaging Het
Btnl4 T C 17: 34,691,919 (GRCm39) I228V probably benign Het
Catsper4 T C 4: 133,942,460 (GRCm39) T231A probably benign Het
Ccl12 A T 11: 81,993,523 (GRCm39) T54S probably damaging Het
Cntn1 T C 15: 92,140,980 (GRCm39) probably null Het
Cog5 T A 12: 31,944,198 (GRCm39) D694E probably damaging Het
Crat T A 2: 30,305,208 (GRCm39) probably benign Het
Crot T C 5: 9,023,635 (GRCm39) T418A probably benign Het
Cubn G A 2: 13,323,089 (GRCm39) P2826L probably damaging Het
Dnah17 A G 11: 117,981,598 (GRCm39) F1698L possibly damaging Het
Dock8 T A 19: 25,124,742 (GRCm39) D1019E possibly damaging Het
Eps15 A G 4: 109,166,361 (GRCm39) N85D probably damaging Het
Exoc1 T C 5: 76,706,889 (GRCm39) S457P probably damaging Het
Ext1 G A 15: 52,965,088 (GRCm39) T426I probably damaging Het
Fat1 T C 8: 45,405,489 (GRCm39) S747P possibly damaging Het
Gas7 A G 11: 67,574,213 (GRCm39) D396G probably damaging Het
Gm5114 G T 7: 39,057,580 (GRCm39) R680S probably benign Het
Gpcpd1 A T 2: 132,395,994 (GRCm39) L94M possibly damaging Het
Gse1 C A 8: 120,956,221 (GRCm39) probably benign Het
Hmgb1 T C 5: 148,987,471 (GRCm39) E26G probably benign Het
Incenp C T 19: 9,852,496 (GRCm39) R714Q unknown Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Ksr1 A G 11: 78,938,121 (GRCm39) probably null Het
Lpin2 T G 17: 71,522,145 (GRCm39) S60A probably damaging Het
Lrrc71 T C 3: 87,649,927 (GRCm39) probably null Het
Mafb A G 2: 160,207,939 (GRCm39) S220P possibly damaging Het
Maml3 TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC 3: 51,605,000 (GRCm39) Het
Mcmbp T C 7: 128,326,833 (GRCm39) probably null Het
Or1e30 A T 11: 73,677,926 (GRCm39) H54L possibly damaging Het
Or4s2 A G 2: 88,473,941 (GRCm39) T277A probably damaging Het
Paqr9 T C 9: 95,442,096 (GRCm39) S29P probably benign Het
Parm1 A G 5: 91,742,069 (GRCm39) T146A possibly damaging Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pigv A T 4: 133,392,792 (GRCm39) F126Y probably damaging Het
Pitx2 T C 3: 129,012,257 (GRCm39) M222T probably damaging Het
Plekhg6 T C 6: 125,355,693 (GRCm39) N37S probably benign Het
Pramel25 T C 4: 143,520,103 (GRCm39) C116R probably damaging Het
Psme4 A T 11: 30,784,307 (GRCm39) K961* probably null Het
Rbpj T C 5: 53,810,493 (GRCm39) W392R probably damaging Het
Reg3a T A 6: 78,358,038 (GRCm39) probably null Het
Rfc3 C T 5: 151,571,749 (GRCm39) S85N probably benign Het
Rtn3 T C 19: 7,435,696 (GRCm39) T80A probably benign Het
Sash1 T C 10: 8,659,985 (GRCm39) T195A probably damaging Het
Ska1 A G 18: 74,339,910 (GRCm39) V12A probably benign Het
Slc25a1 A G 16: 17,745,294 (GRCm39) V80A probably benign Het
Slc26a5 A T 5: 22,039,342 (GRCm39) V217D probably damaging Het
Slc46a1 A G 11: 78,357,805 (GRCm39) D286G probably benign Het
Spata2l A T 8: 123,962,297 (GRCm39) L88Q probably damaging Het
Sptbn1 T G 11: 30,088,634 (GRCm39) Q876P probably benign Het
Tenm2 T A 11: 35,914,407 (GRCm39) I2377F possibly damaging Het
Thbs4 A T 13: 92,899,377 (GRCm39) D539E probably damaging Het
Tmem154 T A 3: 84,599,813 (GRCm39) C162S possibly damaging Het
Tpcn1 T C 5: 120,682,502 (GRCm39) E502G probably benign Het
Tsc22d2 T C 3: 58,323,629 (GRCm39) Y174H probably damaging Het
Usp8 A G 2: 126,594,230 (GRCm39) E802G probably damaging Het
Vmn1r5 T C 6: 56,963,042 (GRCm39) V239A possibly damaging Het
Vmn2r99 T A 17: 19,600,457 (GRCm39) S494T possibly damaging Het
Zbtb38 A G 9: 96,568,517 (GRCm39) F856L 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
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'- ACGTCTGGGCAACAAGACAG -3'
(R):5'- TGGGCATGACCATGATGAC -3'

Sequencing Primer
(F):5'- ATCACCATCACCGGGGTC -3'
(R):5'- TGGGCATGACCATGATGACTCATAG -3'
Posted On 2018-10-18