Incidental Mutation 'R0390:Traf6'
ID 31571
Institutional Source Beutler Lab
Gene Symbol Traf6
Ensembl Gene ENSMUSG00000027164
Gene Name TNF receptor-associated factor 6
Synonyms C630032O20Rik, 2310003F17Rik
MMRRC Submission 038596-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0390 (G1)
Quality Score 190
Status Validated
Chromosome 2
Chromosomal Location 101508774-101532014 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 101518933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 141 (Q141*)
Ref Sequence ENSEMBL: ENSMUSP00000004949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004949]
AlphaFold P70196
Predicted Effect probably null
Transcript: ENSMUST00000004949
AA Change: Q141*
SMART Domains Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: Q141*

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
RING 70 108 8.61e-9 SMART
internal_repeat_1 132 189 3.04e-6 PROSPERO
Pfam:zf-TRAF 204 261 2.6e-22 PFAM
MATH 363 490 2.87e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144063
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
Validation Efficiency 98% (110/112)
MGI Phenotype FUNCTION: This gene encodes a member of the TNF receptor associated factor (TRAF) family of adaptor proteins that mediate signaling events from members of the TNF receptor and Toll/IL-1 receptor families to activate transcription factors such as NF-kappa-B and AP-1. The product of this gene is essential for perinatal and postnatal survival. Mice deficient in this protein exhibit osteopetrosis and defective in development of epidermal appendixes, normal B cell differentiation, lymph node organogenesis, interleukin-1 signaling, lipopolysaccharide signaling and neural tube closure. This protein possesses ubiquitin ligase activity. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Viability is reduced in mice lacking both functional copies of this gene, with death occuring just before birth or around weaning. Mutants exhibit osteopetrosis and immune defects including abnormal immune cell development and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ap2m1 T C 16: 20,359,849 (GRCm39) M183T probably damaging Het
Apob A T 12: 8,038,678 (GRCm39) I364F probably damaging Het
Arl6 A T 16: 59,442,784 (GRCm39) probably benign Het
Cand2 A G 6: 115,751,614 (GRCm39) M15V possibly damaging Het
Cbl A G 9: 44,112,302 (GRCm39) F131S probably damaging Het
Ccdc74a A G 16: 17,468,340 (GRCm39) S321G probably benign Het
Cdc14b T C 13: 64,358,006 (GRCm39) probably benign Het
Cep152 T C 2: 125,418,789 (GRCm39) probably benign Het
Cep290 A G 10: 100,344,620 (GRCm39) E479G probably benign Het
Chrm2 T G 6: 36,501,046 (GRCm39) I301R probably benign Het
Clec2e A G 6: 129,070,431 (GRCm39) W197R probably damaging Het
Cnot10 G T 9: 114,458,218 (GRCm39) S96* probably null Het
Col19a1 A G 1: 24,328,736 (GRCm39) probably benign Het
Csmd2 T C 4: 128,027,466 (GRCm39) probably benign Het
Cthrc1 A T 15: 38,950,159 (GRCm39) *172L probably null Het
Cul9 A T 17: 46,839,515 (GRCm39) I821N probably benign Het
Daam1 G C 12: 72,022,078 (GRCm39) probably benign Het
Dhx58 A T 11: 100,590,090 (GRCm39) I398N probably damaging Het
Dip2b T A 15: 100,091,794 (GRCm39) H844Q probably damaging Het
Dmac2 A G 7: 25,320,454 (GRCm39) D50G probably damaging Het
Dmxl1 C A 18: 50,012,429 (GRCm39) Q1529K probably benign Het
Dtna C T 18: 23,730,558 (GRCm39) P315L probably damaging Het
Ep300 T C 15: 81,524,317 (GRCm39) S1382P unknown Het
Fat2 A T 11: 55,201,603 (GRCm39) N490K probably damaging Het
Flg2 T A 3: 93,107,662 (GRCm39) probably benign Het
Gpatch1 T C 7: 34,980,806 (GRCm39) probably benign Het
Grin2a C A 16: 9,397,449 (GRCm39) K879N possibly damaging Het
Hacd3 A C 9: 64,908,304 (GRCm39) I164S possibly damaging Het
Hinfp A C 9: 44,210,245 (GRCm39) C197G probably damaging Het
Hsd17b12 T C 2: 93,945,335 (GRCm39) probably benign Het
Hsd3b1 A T 3: 98,760,355 (GRCm39) L212Q probably damaging Het
Ifrd1 C T 12: 40,264,093 (GRCm39) probably null Het
Igf2bp2 A G 16: 21,900,551 (GRCm39) F129L possibly damaging Het
Kirrel3 T A 9: 34,931,459 (GRCm39) I409N probably damaging Het
Klhdc10 T C 6: 30,447,411 (GRCm39) I204T probably damaging Het
Kpna6 A T 4: 129,551,597 (GRCm39) S65R possibly damaging Het
Lama3 A T 18: 12,540,620 (GRCm39) D308V probably benign Het
Larp4b T A 13: 9,208,143 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lyzl1 A T 18: 4,169,175 (GRCm39) T11S probably benign Het
Man1c1 A G 4: 134,305,626 (GRCm39) L366P probably damaging Het
Mef2a A G 7: 66,901,472 (GRCm39) M100T probably damaging Het
Mettl13 G A 1: 162,366,458 (GRCm39) H474Y possibly damaging Het
Minar2 T A 18: 59,208,760 (GRCm39) V136E probably damaging Het
Mmp3 A G 9: 7,451,320 (GRCm39) D352G probably benign Het
Mns1 T C 9: 72,360,086 (GRCm39) I412T probably damaging Het
Mon2 T C 10: 122,842,926 (GRCm39) D1501G probably null Het
Mylk G T 16: 34,695,990 (GRCm39) G242W probably damaging Het
Nav1 T C 1: 135,377,704 (GRCm39) D1715G possibly damaging Het
Nckap1l T C 15: 103,362,310 (GRCm39) S2P probably damaging Het
Nek3 A T 8: 22,618,745 (GRCm39) probably benign Het
Nfrkb A G 9: 31,300,193 (GRCm39) probably benign Het
Nlrp4d T C 7: 10,122,705 (GRCm39) D53G probably benign Het
Nol8 T C 13: 49,815,628 (GRCm39) S561P probably damaging Het
Nuf2 A C 1: 169,352,866 (GRCm39) probably benign Het
Odad3 T A 9: 21,903,004 (GRCm39) H442L probably benign Het
Ofcc1 T A 13: 40,168,789 (GRCm39) D866V possibly damaging Het
Optn A G 2: 5,051,006 (GRCm39) L125P probably benign Het
Or5k3 A G 16: 58,969,662 (GRCm39) I150V probably benign Het
Otoa T A 7: 120,730,564 (GRCm39) F588Y probably benign Het
Pappa T A 4: 65,269,850 (GRCm39) probably null Het
Pde5a T G 3: 122,629,232 (GRCm39) C635W probably damaging Het
Pdgfb A T 15: 79,887,620 (GRCm39) probably null Het
Pih1d2 T A 9: 50,532,346 (GRCm39) C135S probably damaging Het
Plcg1 G T 2: 160,594,286 (GRCm39) C361F probably damaging Het
Ppp4r4 T C 12: 103,567,619 (GRCm39) probably benign Het
Pramel26 T A 4: 143,538,269 (GRCm39) D234V probably benign Het
Prdm10 G A 9: 31,260,564 (GRCm39) probably null Het
Prex2 T A 1: 11,159,930 (GRCm39) probably null Het
Prss56 T G 1: 87,112,452 (GRCm39) probably null Het
Prtg A G 9: 72,752,240 (GRCm39) K209E probably benign Het
Ptprc G A 1: 138,050,313 (GRCm39) T36I possibly damaging Het
Rasgrp4 A G 7: 28,845,285 (GRCm39) Y302C probably damaging Het
Rb1cc1 T A 1: 6,318,858 (GRCm39) M759K probably damaging Het
Rbm15b T A 9: 106,763,197 (GRCm39) M324L probably benign Het
Rcbtb2 T C 14: 73,415,987 (GRCm39) V500A probably damaging Het
Rgs6 A G 12: 83,180,451 (GRCm39) K434R probably damaging Het
Rims1 C T 1: 22,635,607 (GRCm39) A125T possibly damaging Het
Robo3 A G 9: 37,333,473 (GRCm39) V746A probably benign Het
Rtl1 C T 12: 109,557,820 (GRCm39) E1340K unknown Het
Sacs G A 14: 61,443,089 (GRCm39) D1712N possibly damaging Het
Samd4b G A 7: 28,103,402 (GRCm39) P19S probably benign Het
Samhd1 T C 2: 156,956,151 (GRCm39) Y347C probably damaging Het
Sema6d T A 2: 124,500,410 (GRCm39) I393N probably damaging Het
Sigmar1 C T 4: 41,741,243 (GRCm39) A4T probably benign Het
Skint9 C A 4: 112,246,376 (GRCm39) L245F probably benign Het
Slc35f5 T C 1: 125,512,832 (GRCm39) L372P probably damaging Het
Smc1b A T 15: 84,950,478 (GRCm39) I1182N probably damaging Het
Smyd3 A G 1: 178,785,138 (GRCm39) probably benign Het
Sptlc1 T C 13: 53,491,648 (GRCm39) D417G probably benign Het
Sv2c T C 13: 96,225,216 (GRCm39) N31S probably benign Het
Tjp1 T C 7: 64,964,738 (GRCm39) D811G probably damaging Het
Top2b A G 14: 16,418,442 (GRCm38) T1221A probably benign Het
Tph2 T C 10: 115,010,014 (GRCm39) D182G probably damaging Het
Ttn T C 2: 76,587,275 (GRCm39) D21574G probably damaging Het
Uba2 T A 7: 33,850,446 (GRCm39) N367I probably benign Het
Ube2b T C 11: 51,879,429 (GRCm39) probably benign Het
Ubr5 G T 15: 38,030,916 (GRCm39) L426I probably benign Het
Ugt2a2 T A 5: 87,612,007 (GRCm39) H301L probably benign Het
Upf2 T A 2: 6,023,705 (GRCm39) probably benign Het
Utrn T C 10: 12,585,804 (GRCm39) D991G probably benign Het
Vmn2r25 T C 6: 123,800,140 (GRCm39) D734G probably damaging Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vwf T A 6: 125,603,324 (GRCm39) Y891* probably null Het
Wwox C T 8: 115,433,018 (GRCm39) T228I probably benign Het
Zer1 C T 2: 29,998,225 (GRCm39) probably benign Het
Zfp180 C T 7: 23,804,132 (GRCm39) H184Y possibly damaging Het
Zfp68 A T 5: 138,605,487 (GRCm39) Y279N probably benign Het
Other mutations in Traf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Traf6 APN 2 101,515,128 (GRCm39) missense probably benign
IGL01619:Traf6 APN 2 101,520,443 (GRCm39) nonsense probably null
IGL01746:Traf6 APN 2 101,527,237 (GRCm39) missense possibly damaging 0.67
IGL02071:Traf6 APN 2 101,527,138 (GRCm39) missense probably benign 0.00
IGL02666:Traf6 APN 2 101,527,512 (GRCm39) missense possibly damaging 0.92
IGL02693:Traf6 APN 2 101,518,850 (GRCm39) missense possibly damaging 0.74
IGL02819:Traf6 APN 2 101,515,134 (GRCm39) missense probably damaging 1.00
Accordo UTSW 2 101,527,029 (GRCm39) nonsense probably null
concurrence UTSW 2 101,527,801 (GRCm39) missense probably damaging 1.00
consistency UTSW 2 101,527,333 (GRCm39) missense possibly damaging 0.89
R0056:Traf6 UTSW 2 101,527,496 (GRCm39) missense possibly damaging 0.81
R1470:Traf6 UTSW 2 101,526,994 (GRCm39) splice site probably benign
R1727:Traf6 UTSW 2 101,527,084 (GRCm39) missense probably benign
R2075:Traf6 UTSW 2 101,527,398 (GRCm39) missense probably benign 0.00
R4498:Traf6 UTSW 2 101,514,891 (GRCm39) missense probably benign 0.01
R5166:Traf6 UTSW 2 101,520,402 (GRCm39) missense probably benign 0.03
R5385:Traf6 UTSW 2 101,515,100 (GRCm39) nonsense probably null
R5636:Traf6 UTSW 2 101,527,254 (GRCm39) missense probably benign 0.06
R6005:Traf6 UTSW 2 101,527,029 (GRCm39) nonsense probably null
R7472:Traf6 UTSW 2 101,527,537 (GRCm39) missense probably benign 0.05
R8175:Traf6 UTSW 2 101,521,825 (GRCm39) missense possibly damaging 0.86
R8462:Traf6 UTSW 2 101,527,801 (GRCm39) missense probably damaging 1.00
R9004:Traf6 UTSW 2 101,520,443 (GRCm39) missense probably benign 0.07
R9008:Traf6 UTSW 2 101,527,333 (GRCm39) missense possibly damaging 0.89
R9224:Traf6 UTSW 2 101,527,512 (GRCm39) missense probably benign 0.35
R9310:Traf6 UTSW 2 101,527,072 (GRCm39) missense possibly damaging 0.47
R9489:Traf6 UTSW 2 101,524,625 (GRCm39) missense probably damaging 1.00
R9510:Traf6 UTSW 2 101,521,825 (GRCm39) missense possibly damaging 0.86
R9554:Traf6 UTSW 2 101,518,953 (GRCm39) missense probably benign 0.01
R9605:Traf6 UTSW 2 101,524,625 (GRCm39) missense probably damaging 1.00
R9652:Traf6 UTSW 2 101,518,927 (GRCm39) missense probably damaging 1.00
R9747:Traf6 UTSW 2 101,527,029 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTCCGCATCATTCTGGCGTTAC -3'
(R):5'- TGCAAGGACCTGTTAGCCAATTCC -3'

Sequencing Primer
(F):5'- GTTACCGTGCCATGTAATGC -3'
(R):5'- GACCTGTTAGCCAATTCCTATAGC -3'
Posted On 2013-04-24