Incidental Mutation 'IGL01086:Traf6'
ID 50464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf6
Ensembl Gene ENSMUSG00000027164
Gene Name TNF receptor-associated factor 6
Synonyms C630032O20Rik, 2310003F17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01086
Quality Score
Chromosome 2
Chromosomal Location 101508774-101532014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101515128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 95 (I95V)
Ref Sequence ENSEMBL: ENSMUSP00000004949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004949]
AlphaFold P70196
Predicted Effect probably benign
Transcript: ENSMUST00000004949
AA Change: I95V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: I95V

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
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,729 (GRCm39) R104S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Aim2 A G 1: 173,282,999 (GRCm39) Y27C probably damaging Het
Apol7b T C 15: 77,308,114 (GRCm39) E127G probably damaging Het
Atp10a T C 7: 58,474,066 (GRCm39) F1118L probably damaging Het
Cacna1e T C 1: 154,347,347 (GRCm39) D940G probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clip4 G A 17: 72,131,789 (GRCm39) V376I probably benign Het
Cmklr2 T C 1: 63,222,650 (GRCm39) E195G probably benign Het
Coro6 C A 11: 77,357,374 (GRCm39) C194* probably null Het
Crebbp T C 16: 3,997,416 (GRCm39) M223V probably benign Het
Dkk4 T A 8: 23,116,857 (GRCm39) C157S probably damaging Het
Dnah14 T C 1: 181,579,611 (GRCm39) L3048S probably benign Het
Dscaml1 T C 9: 45,613,960 (GRCm39) probably benign Het
Gria2 T C 3: 80,599,688 (GRCm39) Y732C probably damaging Het
Igkv4-59 T C 6: 69,415,707 (GRCm39) I7V probably benign Het
Lamc3 T C 2: 31,788,488 (GRCm39) F216S probably damaging Het
Lcn6 T C 2: 25,570,792 (GRCm39) F61L probably benign Het
Nup205 T A 6: 35,185,871 (GRCm39) probably benign Het
Or5w18 T A 2: 87,633,544 (GRCm39) Y266* probably null Het
Otof C T 5: 30,533,617 (GRCm39) probably null Het
Pik3c2b T C 1: 133,019,356 (GRCm39) C1035R probably damaging Het
Pla1a T C 16: 38,227,984 (GRCm39) N298D probably benign Het
Poteg T A 8: 27,963,648 (GRCm39) probably benign Het
Pwp1 T C 10: 85,715,757 (GRCm39) probably null Het
Scel A G 14: 103,849,827 (GRCm39) I631V probably benign Het
Scn3a T A 2: 65,300,503 (GRCm39) M1288L probably benign Het
Serpina11 T A 12: 103,952,329 (GRCm39) D147V probably damaging Het
Shroom3 T A 5: 93,096,311 (GRCm39) C1266S probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Srms A G 2: 180,854,216 (GRCm39) V117A probably damaging Het
Tmem161b T C 13: 84,370,541 (GRCm39) probably benign Het
Tmem94 A T 11: 115,681,110 (GRCm39) T158S probably benign Het
Tomm40l T C 1: 171,047,878 (GRCm39) probably null Het
Ttc13 A G 8: 125,402,085 (GRCm39) I686T probably damaging Het
Zmat2 C T 18: 36,929,163 (GRCm39) H104Y probably damaging Het
Other mutations in Traf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0390:Traf6 UTSW 2 101,518,933 (GRCm39) nonsense probably null
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
Posted On 2013-06-21