Incidental Mutation 'IGL01619:Traf6'
ID92511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf6
Ensembl Gene ENSMUSG00000027164
Gene NameTNF receptor-associated factor 6
SynonymsC630032O20Rik, 2310003F17Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01619
Quality Score
Status
Chromosome2
Chromosomal Location101678429-101701669 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 101690098 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 164 (Q164*)
Ref Sequence ENSEMBL: ENSMUSP00000004949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004949]
Predicted Effect probably null
Transcript: ENSMUST00000004949
AA Change: Q164*
SMART Domains Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: Q164*

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 T C 15: 36,485,967 T47A possibly damaging Het
Asxl3 T G 18: 22,523,328 V1465G probably damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Celsr3 A T 9: 108,834,557 D1657V probably damaging Het
Cntn6 G A 6: 104,728,374 probably benign Het
Def6 C T 17: 28,207,864 L8F probably damaging Het
Dnah9 T A 11: 65,831,615 K1940* probably null Het
Dock10 A G 1: 80,634,298 probably benign Het
Fam166b G A 4: 43,427,814 T170I possibly damaging Het
Fam72a A G 1: 131,533,912 I112V probably benign Het
Fgl1 A T 8: 41,196,971 W258R probably damaging Het
Ints6l G T X: 56,496,744 probably benign Het
Lifr A T 15: 7,191,162 N1091I probably damaging Het
Mga T C 2: 119,931,828 I1100T possibly damaging Het
Mrpl40 T A 16: 18,872,544 M139L probably benign Het
Myom1 T C 17: 71,044,476 probably benign Het
Olfr164 T A 16: 19,286,159 T195S probably damaging Het
Pcdhb5 T C 18: 37,322,939 F791L probably damaging Het
Prss29 T C 17: 25,321,139 probably null Het
Ranbp2 A G 10: 58,464,078 probably null Het
Serpinb9e A G 13: 33,255,125 K178R probably damaging Het
Shtn1 A G 19: 59,028,169 S233P probably damaging Het
Smpd1 G A 7: 105,555,342 V143M possibly damaging Het
Terb1 G A 8: 104,473,014 H433Y probably benign Het
Trip12 C A 1: 84,814,910 R4L probably damaging Het
Ttn G A 2: 76,863,535 P208S possibly damaging Het
Ube2c T C 2: 164,771,312 I50T probably damaging Het
Uggt1 T C 1: 36,161,694 D1174G probably damaging Het
Vmn2r121 T G X: 124,132,300 M387L probably benign Het
Vmn2r18 T A 5: 151,586,764 N48I probably benign Het
Zc3h15 T C 2: 83,660,173 L217P probably damaging Het
Zyg11a T A 4: 108,205,217 E129V probably damaging Het
Other mutations in Traf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Traf6 APN 2 101684783 missense probably benign
IGL01746:Traf6 APN 2 101696892 missense possibly damaging 0.67
IGL02071:Traf6 APN 2 101696793 missense probably benign 0.00
IGL02666:Traf6 APN 2 101697167 missense possibly damaging 0.92
IGL02693:Traf6 APN 2 101688505 missense possibly damaging 0.74
IGL02819:Traf6 APN 2 101684789 missense probably damaging 1.00
R0056:Traf6 UTSW 2 101697151 missense possibly damaging 0.81
R0390:Traf6 UTSW 2 101688588 nonsense probably null
R1470:Traf6 UTSW 2 101696649 splice site probably benign
R1727:Traf6 UTSW 2 101696739 missense probably benign
R2075:Traf6 UTSW 2 101697053 missense probably benign 0.00
R4498:Traf6 UTSW 2 101684546 missense probably benign 0.01
R5166:Traf6 UTSW 2 101690057 missense probably benign 0.03
R5385:Traf6 UTSW 2 101684755 nonsense probably null
R5636:Traf6 UTSW 2 101696909 missense probably benign 0.06
R6005:Traf6 UTSW 2 101696684 nonsense probably null
R7472:Traf6 UTSW 2 101697192 missense probably benign 0.05
Posted On2013-12-09