Incidental Mutation 'IGL02819:Traf6'
ID 360926
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 # IGL02819
Quality Score
Status
Chromosome 2
Chromosomal Location 101508774-101532014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101515134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 97 (S97P)
Ref Sequence ENSEMBL: ENSMUSP00000004949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004949]
AlphaFold P70196
Predicted Effect probably damaging
Transcript: ENSMUST00000004949
AA Change: S97P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: S97P

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D 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
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 2015-12-18