Incidental Mutation 'R1994:Traf7'
ID 224230
Institutional Source Beutler Lab
Gene Symbol Traf7
Ensembl Gene ENSMUSG00000052752
Gene Name TNF receptor-associated factor 7
Synonyms RFWD1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R1994 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24727824-24746912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24729476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 445 (V445A)
Ref Sequence ENSEMBL: ENSMUSP00000135267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176652] [ENSMUST00000176353] [ENSMUST00000176178] [ENSMUST00000176237] [ENSMUST00000177025] [ENSMUST00000176668] [ENSMUST00000176324] [ENSMUST00000177405] [ENSMUST00000177401] [ENSMUST00000177193] [ENSMUST00000177154]
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 damaging
Transcript: ENSMUST00000070777
AA Change: V445A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: V445A

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: V485A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: V485A

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 possibly damaging
Transcript: ENSMUST00000176652
AA Change: V485A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: V485A

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 damaging
Transcript: ENSMUST00000176353
AA Change: V445A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: V445A

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 noncoding transcript
Transcript: ENSMUST00000176530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176900
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: ENSMUST00000177025
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: ENSMUST00000176324
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
Predicted Effect probably benign
Transcript: ENSMUST00000177401
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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,113,014 (GRCm39) probably null Het
Abcc8 T G 7: 45,806,543 (GRCm39) R388S probably benign Het
Abhd18 C T 3: 40,889,361 (GRCm39) R414* probably null Het
Acap1 C T 11: 69,780,324 (GRCm39) V40I probably benign Het
Actn1 C A 12: 80,251,745 (GRCm39) G111* probably null Het
Adam26b T C 8: 43,973,676 (GRCm39) Q442R probably benign Het
Adamts19 T C 18: 59,105,903 (GRCm39) probably null Het
Agtpbp1 T G 13: 59,678,872 (GRCm39) K145N probably damaging Het
AI661453 A G 17: 47,777,959 (GRCm39) probably benign Het
Ap4e1 T C 2: 126,903,467 (GRCm39) S790P probably benign Het
Asmt A G X: 169,109,524 (GRCm39) E168G possibly damaging Het
Atp2a3 T A 11: 72,866,240 (GRCm39) S287T probably damaging Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Bicd1 A T 6: 149,415,050 (GRCm39) T588S probably benign Het
Birc6 T G 17: 74,905,057 (GRCm39) N1283K probably benign Het
Cacna1e T A 1: 154,353,563 (GRCm39) Q423L probably damaging Het
Capn3 T A 2: 120,326,418 (GRCm39) Y537N probably damaging Het
Ccn3 T A 15: 54,612,750 (GRCm39) V253E probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Chgb T C 2: 132,628,418 (GRCm39) S48P possibly damaging Het
Cidec T A 6: 113,405,193 (GRCm39) Y159F probably damaging Het
Clec18a T C 8: 111,808,234 (GRCm39) S66G possibly damaging Het
Cpsf1 G A 15: 76,487,360 (GRCm39) T138M probably benign Het
Dclre1c C T 2: 3,439,022 (GRCm39) R61W probably damaging Het
Eef1akmt1 A C 14: 57,787,911 (GRCm39) V149G probably benign Het
Fam131b T C 6: 42,297,818 (GRCm39) T112A possibly damaging Het
Fbln2 A G 6: 91,211,283 (GRCm39) E409G probably damaging Het
Fkbp15 G A 4: 62,222,618 (GRCm39) P1094S probably benign Het
Fpr1 A G 17: 18,097,879 (GRCm39) S37P probably benign Het
Fryl G T 5: 73,265,836 (GRCm39) T495K probably damaging Het
Gja6 A T X: 159,686,374 (GRCm39) I186N possibly damaging Het
Gm4922 T C 10: 18,659,388 (GRCm39) T445A probably benign Het
Gria2 G A 3: 80,709,664 (GRCm39) L10F probably benign Het
Gspt2 A G X: 93,681,025 (GRCm39) D388G possibly damaging Het
Hdc T A 2: 126,458,107 (GRCm39) I72F probably damaging Het
Ift70b A G 2: 75,768,402 (GRCm39) L117P probably damaging Het
Igf2r T C 17: 12,911,625 (GRCm39) K1905E probably benign Het
Il33 A G 19: 29,934,304 (GRCm39) D155G possibly damaging Het
Klk1b9 C T 7: 43,628,979 (GRCm39) T161I probably benign Het
Mfsd12 C A 10: 81,193,515 (GRCm39) H28Q probably damaging Het
Mgat5 A T 1: 127,387,696 (GRCm39) I551F possibly damaging Het
Miga2 A T 2: 30,272,000 (GRCm39) D25V probably damaging Het
Mlc1 T C 15: 88,858,782 (GRCm39) N122S possibly damaging Het
Mmp20 T A 9: 7,645,293 (GRCm39) M281K probably benign Het
Muc5ac C A 7: 141,366,889 (GRCm39) P2232T possibly damaging Het
N4bp2l2 A G 5: 150,584,748 (GRCm39) S411P possibly damaging Het
Ngef G A 1: 87,415,626 (GRCm39) S346L probably damaging Het
Or10j27 C T 1: 172,958,418 (GRCm39) R122H possibly damaging Het
Or2t6 A G 14: 14,175,854 (GRCm38) I76T probably benign Het
Or4c112 T A 2: 88,853,487 (GRCm39) T287S probably damaging Het
Or4f15 T A 2: 111,814,429 (GRCm39) M5L probably benign Het
Or51aa2 T C 7: 103,187,566 (GRCm39) I292V possibly damaging Het
Or52m2 C T 7: 102,263,747 (GRCm39) V150M probably damaging Het
Or56b2 T C 7: 104,337,690 (GRCm39) I156T probably benign Het
Or6c215 T C 10: 129,637,530 (GRCm39) Y288C probably damaging Het
Or6c6 T A 10: 129,186,561 (GRCm39) I43N probably damaging Het
Pecam1 G T 11: 106,586,763 (GRCm39) H150N possibly damaging Het
Polr3c A T 3: 96,621,689 (GRCm39) probably null Het
Pop1 A C 15: 34,530,617 (GRCm39) Q1005P probably damaging Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prss33 G A 17: 24,053,172 (GRCm39) A223V probably damaging Het
Prss53 C T 7: 127,486,565 (GRCm39) V354I probably benign Het
Rab3gap2 C T 1: 184,968,221 (GRCm39) T191I probably damaging Het
Rictor T C 15: 6,805,637 (GRCm39) F608L probably benign Het
Ryr3 T A 2: 112,484,837 (GRCm39) E3884V probably null Het
Scaf11 G A 15: 96,316,721 (GRCm39) R948* probably null Het
Sec61g A T 11: 16,456,444 (GRCm39) V40E probably damaging Het
Serpinb3d A T 1: 107,008,518 (GRCm39) F116I possibly damaging Het
Sipa1l3 T C 7: 29,099,036 (GRCm39) D411G probably benign Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc35a2 T A X: 7,759,064 (GRCm39) L110Q probably damaging Het
Spata31d1b G C 13: 59,864,194 (GRCm39) L447F probably benign Het
Spsb2 T C 6: 124,786,329 (GRCm39) probably null Het
Tent4b C T 8: 88,973,112 (GRCm39) T277M probably damaging Het
Tmcc3 T C 10: 94,414,468 (GRCm39) S57P possibly damaging Het
Trib1 A G 15: 59,521,192 (GRCm39) S61G possibly damaging Het
Trip12 A T 1: 84,726,893 (GRCm39) F36I probably damaging Het
Tshz3 T C 7: 36,469,247 (GRCm39) I412T probably damaging Het
Tsku T C 7: 98,001,353 (GRCm39) Y326C probably damaging Het
Ttn T G 2: 76,712,038 (GRCm39) probably benign Het
Ugt1a6a G A 1: 88,066,470 (GRCm39) R92H probably benign Het
Vmn1r63 A G 7: 5,806,254 (GRCm39) V126A probably benign Het
Vmn2r84 T A 10: 130,221,878 (GRCm39) S781C probably damaging Het
Wdr91 T A 6: 34,869,297 (GRCm39) H409L probably damaging Het
Wnt7a T A 6: 91,342,938 (GRCm39) T315S possibly damaging Het
Zdhhc25 A G 15: 88,485,027 (GRCm39) T121A probably benign Het
Zfp109 T C 7: 23,928,743 (GRCm39) H222R probably benign Het
Zfp286 A G 11: 62,670,646 (GRCm39) S476P probably damaging Het
Zfp605 T C 5: 110,275,418 (GRCm39) Y179H probably damaging Het
Zfp955a T C 17: 33,460,620 (GRCm39) H504R probably damaging Het
Zswim2 T A 2: 83,746,007 (GRCm39) N477I possibly 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
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
Predicted Primers PCR Primer
(F):5'- TAAGAGCCACTGTACAGATAGCTC -3'
(R):5'- GCACCATCATTGTGAGTGGG -3'

Sequencing Primer
(F):5'- GAGGCCTGTGAGTTCTTTCTTCAAC -3'
(R):5'- TGTGAGTGGGCACAGGG -3'
Posted On 2014-08-25