Incidental Mutation 'IGL02071:Traf6'
ID 185823
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 # IGL02071
Quality Score
Status
Chromosome 2
Chromosomal Location 101508774-101532014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101527138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 296 (C296Y)
Ref Sequence ENSEMBL: ENSMUSP00000004949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004949]
AlphaFold P70196
Predicted Effect probably benign
Transcript: ENSMUST00000004949
AA Change: C296Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: C296Y

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,400,676 (GRCm39) R92C probably damaging Het
Adam29 C A 8: 56,324,589 (GRCm39) V622L possibly damaging Het
Bzw2 T C 12: 36,157,502 (GRCm39) H321R probably benign Het
C2cd2 C T 16: 97,671,432 (GRCm39) R489Q probably damaging Het
Cdh23 G A 10: 60,359,339 (GRCm39) T253I possibly damaging Het
Col4a3 T G 1: 82,638,608 (GRCm39) probably null Het
D630039A03Rik T C 4: 57,910,309 (GRCm39) T168A possibly damaging Het
Dnajc19 A G 3: 34,132,914 (GRCm39) L97P possibly damaging Het
Dpep2 A T 8: 106,711,776 (GRCm39) H550Q probably benign Het
Dvl2 C A 11: 69,895,626 (GRCm39) probably null Het
Fam234b A G 6: 135,204,149 (GRCm39) probably null Het
Fxyd5 A G 7: 30,739,613 (GRCm39) V32A possibly damaging Het
Itprid1 C A 6: 55,944,710 (GRCm39) S477* probably null Het
Mak16 A T 8: 31,650,557 (GRCm39) S251T probably benign Het
Med10 T C 13: 69,963,747 (GRCm39) V116A probably benign Het
Mycbp2 G A 14: 103,392,343 (GRCm39) R50* probably null Het
Nckap5 G A 1: 125,909,305 (GRCm39) P272L probably damaging Het
Nf1 T A 11: 79,334,947 (GRCm39) V933E possibly damaging Het
Nrxn2 T A 19: 6,531,783 (GRCm39) V749E probably damaging Het
Or51e2 A C 7: 102,391,355 (GRCm39) V285G probably damaging Het
Or5al1 C A 2: 85,990,219 (GRCm39) R165L probably benign Het
Osbpl9 T C 4: 108,929,176 (GRCm39) Y417C probably damaging Het
Otop1 G A 5: 38,445,327 (GRCm39) A162T probably damaging Het
Patl1 C A 19: 11,917,054 (GRCm39) P634T probably damaging Het
Ppl A T 16: 4,930,936 (GRCm39) S28T probably benign Het
Prkar2b C T 12: 32,013,016 (GRCm39) G367R probably damaging Het
Rbl2 G A 8: 91,828,826 (GRCm39) V576I probably damaging Het
Rgl3 C T 9: 21,899,559 (GRCm39) A53T probably benign Het
Rp1 T A 1: 4,415,533 (GRCm39) I1860F possibly damaging Het
Sbno2 A T 10: 79,896,475 (GRCm39) D877E probably damaging Het
Sectm1b C T 11: 120,946,761 (GRCm39) V45I probably damaging Het
Sfmbt2 G A 2: 10,582,763 (GRCm39) V741I probably benign Het
Sugt1 T A 14: 79,847,723 (GRCm39) L191* probably null Het
Tcf21 A T 10: 22,693,709 (GRCm39) V156E possibly damaging Het
Tep1 T A 14: 51,071,506 (GRCm39) R2046S possibly damaging Het
Tmem181a T C 17: 6,347,531 (GRCm39) F241S probably damaging Het
Trim40 A G 17: 37,200,070 (GRCm39) S3P probably benign Het
Ttll2 A T 17: 7,619,130 (GRCm39) Y266N probably damaging Het
Vps54 A G 11: 21,225,071 (GRCm39) N177S probably null 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
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 2014-05-07