Incidental Mutation 'R6594:Traf7'
ID 524826
Institutional Source Beutler Lab
Gene Symbol Traf7
Ensembl Gene ENSMUSG00000052752
Gene Name TNF receptor-associated factor 7
Synonyms RFWD1
MMRRC Submission 044718-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R6594 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24727824-24746912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24728813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 591 (V591A)
Ref Sequence ENSEMBL: ENSMUSP00000134759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000176668] [ENSMUST00000177154] [ENSMUST00000177025] [ENSMUST00000177401] [ENSMUST00000176237] [ENSMUST00000177193] [ENSMUST00000176324] [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: V551A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: V551A

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 possibly damaging
Transcript: ENSMUST00000088464
AA Change: V591A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: V591A

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 benign
Transcript: ENSMUST00000176353
AA Change: V551A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: V551A

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 possibly damaging
Transcript: ENSMUST00000176652
AA Change: V591A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: V591A

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: 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 noncoding transcript
Transcript: ENSMUST00000176530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
Predicted Effect probably benign
Transcript: ENSMUST00000177401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176633
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: 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 noncoding transcript
Transcript: ENSMUST00000176900
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,113,432 (GRCm39) N296S probably benign Het
Abca13 A T 11: 9,244,632 (GRCm39) N2165I possibly damaging Het
Anpep T A 7: 79,491,109 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,089,647 (GRCm39) I145L probably benign Het
Ccar2 G A 14: 70,377,925 (GRCm39) L687F probably damaging Het
Cd69 A G 6: 129,246,537 (GRCm39) probably null Het
Chchd10 A C 10: 75,772,158 (GRCm39) Q43P probably damaging Het
Ddx55 A G 5: 124,704,988 (GRCm39) E415G probably damaging Het
Defa41 A G 8: 21,692,471 (GRCm39) probably null Het
Dhx40 A T 11: 86,676,599 (GRCm39) C172S possibly damaging Het
Epha1 G A 6: 42,341,625 (GRCm39) T475I probably benign Het
Eri1 T C 8: 35,949,687 (GRCm39) T91A probably damaging Het
Fscn1 C T 5: 142,955,783 (GRCm39) A158V probably benign Het
Gm11437 C T 11: 84,055,386 (GRCm39) G77R probably null Het
Golm1 T C 13: 59,812,041 (GRCm39) N94D possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Haus4 C A 14: 54,781,268 (GRCm39) E269D possibly damaging Het
Hyou1 T C 9: 44,300,619 (GRCm39) M896T probably benign Het
Itpr2 T A 6: 146,091,978 (GRCm39) M2174L possibly damaging Het
Kars1 T C 8: 112,720,299 (GRCm39) probably benign Het
Kif1a T C 1: 92,949,035 (GRCm39) M1488V probably benign Het
Lrp2 T C 2: 69,270,267 (GRCm39) T4106A possibly damaging Het
Lrrc20 G A 10: 61,318,225 (GRCm39) V16I possibly damaging Het
Mecr T A 4: 131,582,004 (GRCm39) V162E probably damaging Het
Ms4a4a C A 19: 11,363,778 (GRCm39) A102E probably damaging Het
Mycn T C 12: 12,990,051 (GRCm39) D115G probably damaging Het
Ninj2 A T 6: 120,175,750 (GRCm39) T138S possibly damaging Het
Oasl2 G A 5: 115,044,836 (GRCm39) V121I probably benign Het
Or10s1 T C 9: 39,986,239 (GRCm39) L216P probably damaging Het
Or2r11 A T 6: 42,437,309 (GRCm39) S215T probably benign Het
Or7g19 T C 9: 18,856,127 (GRCm39) F61S probably damaging Het
Pcdha11 A C 18: 37,144,235 (GRCm39) I109L probably benign Het
Pira1 T A 7: 3,739,498 (GRCm39) K457* probably null Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Rp1l1 A T 14: 64,269,126 (GRCm39) K1571* probably null Het
Sec24d G T 3: 123,087,412 (GRCm39) G193C probably damaging Het
Sema3b A T 9: 107,476,025 (GRCm39) M732K probably benign Het
Serpinb8 T C 1: 107,525,201 (GRCm39) M1T probably null Het
Sgip1 T A 4: 102,819,676 (GRCm39) V594E probably damaging Het
Slc3a2 T C 19: 8,685,410 (GRCm39) S197G probably damaging Het
Slc44a5 T C 3: 153,964,660 (GRCm39) V520A possibly damaging Het
Surf6 G T 2: 26,792,761 (GRCm39) D13E possibly damaging Het
Tmem94 G A 11: 115,689,112 (GRCm39) R1341H probably damaging Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Trim72 T C 7: 127,609,220 (GRCm39) S341P probably damaging Het
Trps1 A G 15: 50,694,351 (GRCm39) V398A probably damaging Het
Ube2m C A 7: 12,771,617 (GRCm39) E14* probably null Het
Unc119 T A 11: 78,238,046 (GRCm39) Y10N probably damaging Het
Ush2a T C 1: 188,642,995 (GRCm39) L4119P possibly damaging Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r4 A G 3: 64,296,731 (GRCm39) S685P probably damaging Het
Vmn2r58 T C 7: 41,486,535 (GRCm39) M787V possibly damaging Het
Vmn2r72 T C 7: 85,398,892 (GRCm39) H487R probably benign Het
Xcr1 A G 9: 123,685,309 (GRCm39) I151T probably benign Het
Zfp658 T C 7: 43,216,701 (GRCm39) S24P possibly damaging Het
Zfyve16 T C 13: 92,650,326 (GRCm39) D886G probably benign 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
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'- GCATGGGATATGAGAGCCTG -3'
(R):5'- ATTCGGACCCTTGACTGCATC -3'

Sequencing Primer
(F):5'- ATATGAGAGCCTGCCCTGG -3'
(R):5'- GACTGCATCCATGTCCTGCAG -3'
Posted On 2018-06-22