Incidental Mutation 'IGL00499:Traf5'
ID 332235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf5
Ensembl Gene ENSMUSG00000026637
Gene Name TNF receptor-associated factor 5
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00499
Quality Score
Status
Chromosome 1
Chromosomal Location 191729166-191776868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 191741589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 96 (D96G)
Ref Sequence ENSEMBL: ENSMUSP00000141931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085573] [ENSMUST00000195815]
AlphaFold P70191
Predicted Effect possibly damaging
Transcript: ENSMUST00000085573
AA Change: D221G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: D221G

DomainStartEndE-ValueType
RING 45 84 1.74e-4 SMART
Pfam:zf-TRAF 128 183 4.8e-21 PFAM
Pfam:zf-TRAF 183 241 4.2e-19 PFAM
MATH 402 525 2.42e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193355
Predicted Effect possibly damaging
Transcript: ENSMUST00000195815
AA Change: D96G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141931
Gene: ENSMUSG00000026637
AA Change: D96G

DomainStartEndE-ValueType
Pfam:zf-TRAF 3 58 1.7e-18 PFAM
Pfam:zf-TRAF 58 116 1.6e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice show defects in lymphocyte activation but are otherwise viable and develop normally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,711,138 (GRCm39) noncoding transcript Het
Abcb9 T C 5: 124,215,301 (GRCm39) D480G possibly damaging Het
Adam26a A T 8: 44,021,896 (GRCm39) N531K possibly damaging Het
AW554918 A T 18: 25,553,122 (GRCm39) K542* probably null Het
Blk A G 14: 63,618,169 (GRCm39) F246L probably damaging Het
Camk1 T C 6: 113,313,172 (GRCm39) E292G probably benign Het
Ccdc88a C T 11: 29,449,341 (GRCm39) T261I probably benign Het
Cep290 A T 10: 100,379,189 (GRCm39) Q57L probably damaging Het
Cpsf1 A T 15: 76,484,416 (GRCm39) H688Q probably benign Het
Cryz T C 3: 154,310,579 (GRCm39) V13A possibly damaging Het
Dst A G 1: 34,329,504 (GRCm39) K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 (GRCm39) V371E possibly damaging Het
Eps8 C A 6: 137,499,886 (GRCm39) E181* probably null Het
Flt4 T C 11: 49,526,088 (GRCm39) I796T probably damaging Het
Gmps A G 3: 63,921,788 (GRCm39) N597S probably benign Het
Itgav T A 2: 83,633,339 (GRCm39) M1011K probably damaging Het
Kif16b A G 2: 142,699,244 (GRCm39) M112T probably damaging Het
Lig1 T C 7: 13,032,756 (GRCm39) probably null Het
Lrrc30 A G 17: 67,939,034 (GRCm39) F182S probably damaging Het
Oxsm A T 14: 16,242,076 (GRCm38) M231K probably damaging Het
Pnisr T C 4: 21,870,407 (GRCm39) probably null Het
Rsrc1 A T 3: 66,989,933 (GRCm39) probably benign Het
Setd1b A T 5: 123,296,810 (GRCm39) probably benign Het
Tbx6 A G 7: 126,380,701 (GRCm39) Y8C probably damaging Het
Tmem33 T C 5: 67,441,538 (GRCm39) Y196H probably damaging Het
Tsc22d1 T A 14: 76,656,357 (GRCm39) D945E probably damaging Het
Tubb2b T C 13: 34,312,329 (GRCm39) I155V probably benign Het
Usp13 T A 3: 32,935,560 (GRCm39) Y328N probably damaging Het
Usp17lc G A 7: 103,067,673 (GRCm39) D323N probably damaging Het
Usp17lc G A 7: 103,067,672 (GRCm39) M322I probably damaging Het
Zfp341 C T 2: 154,476,151 (GRCm39) T446I probably damaging Het
Zfp407 A G 18: 84,579,877 (GRCm39) L412P probably damaging Het
Zfp521 T A 18: 14,072,177 (GRCm39) D21V probably benign Het
Zranb1 A G 7: 132,584,233 (GRCm39) probably benign Het
Other mutations in Traf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Traf5 APN 1 191,731,828 (GRCm39) missense probably benign
IGL02262:Traf5 APN 1 191,729,636 (GRCm39) missense probably damaging 1.00
IGL02579:Traf5 APN 1 191,731,848 (GRCm39) missense probably damaging 0.99
IGL03308:Traf5 APN 1 191,729,461 (GRCm39) missense probably damaging 0.99
PIT4445001:Traf5 UTSW 1 191,729,768 (GRCm39) missense
R0028:Traf5 UTSW 1 191,758,421 (GRCm39) intron probably benign
R0689:Traf5 UTSW 1 191,729,837 (GRCm39) missense probably benign 0.16
R1511:Traf5 UTSW 1 191,731,912 (GRCm39) missense probably benign 0.01
R1641:Traf5 UTSW 1 191,729,470 (GRCm39) missense probably benign 0.20
R2235:Traf5 UTSW 1 191,738,806 (GRCm39) missense probably damaging 1.00
R2246:Traf5 UTSW 1 191,751,190 (GRCm39) splice site probably null
R2301:Traf5 UTSW 1 191,729,926 (GRCm39) missense probably benign 0.01
R3973:Traf5 UTSW 1 191,729,837 (GRCm39) missense probably benign 0.16
R4396:Traf5 UTSW 1 191,729,806 (GRCm39) missense probably benign 0.22
R4793:Traf5 UTSW 1 191,729,765 (GRCm39) missense probably benign 0.38
R4834:Traf5 UTSW 1 191,751,198 (GRCm39) missense probably benign 0.10
R5779:Traf5 UTSW 1 191,729,633 (GRCm39) missense probably damaging 1.00
R5795:Traf5 UTSW 1 191,731,807 (GRCm39) missense probably benign 0.00
R5843:Traf5 UTSW 1 191,729,446 (GRCm39) missense possibly damaging 0.55
R5912:Traf5 UTSW 1 191,730,030 (GRCm39) intron probably benign
R5963:Traf5 UTSW 1 191,731,977 (GRCm39) missense probably benign 0.06
R6246:Traf5 UTSW 1 191,754,853 (GRCm39) missense probably damaging 0.99
R6287:Traf5 UTSW 1 191,731,833 (GRCm39) missense probably damaging 1.00
R6455:Traf5 UTSW 1 191,731,887 (GRCm39) missense probably benign 0.00
R7248:Traf5 UTSW 1 191,743,432 (GRCm39) missense probably benign 0.20
R7452:Traf5 UTSW 1 191,731,792 (GRCm39) missense
R8147:Traf5 UTSW 1 191,746,984 (GRCm39) missense probably damaging 1.00
R9301:Traf5 UTSW 1 191,729,489 (GRCm39) missense
R9307:Traf5 UTSW 1 191,747,033 (GRCm39) missense probably damaging 1.00
Posted On 2015-08-05