Incidental Mutation 'IGL02262:Traf5'
ID286794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf5
Ensembl Gene ENSMUSG00000026637
Gene NameTNF receptor-associated factor 5
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02262
Quality Score
Status
Chromosome1
Chromosomal Location191997205-192092559 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 191997675 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 472 (F472L)
Ref Sequence ENSEMBL: ENSMUSP00000082710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085573]
Predicted Effect probably damaging
Transcript: ENSMUST00000085573
AA Change: F472L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: F472L

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: ENSMUST00000175262
Predicted Effect unknown
Transcript: ENSMUST00000192628
AA Change: F169L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195647
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 G T 10: 14,441,396 A560E probably benign Het
Apol7c A T 15: 77,525,813 M311K probably benign Het
Arap2 A C 5: 62,642,841 V1281G probably damaging Het
Cacna1s C T 1: 136,108,129 T1388I probably damaging Het
Dcaf13 T C 15: 39,118,707 probably benign Het
Dscaml1 G A 9: 45,732,080 V1266I probably benign Het
Dscaml1 G A 9: 45,745,116 G1585S probably benign Het
Epc1 A G 18: 6,437,278 L750P probably damaging Het
Fgd6 T A 10: 94,125,628 M1108K probably damaging Het
Gm14496 T C 2: 181,996,012 I293T probably damaging Het
Gm21759 T C 5: 8,180,747 probably benign Het
Igkv3-10 A T 6: 70,573,170 D100V possibly damaging Het
Ipo13 A C 4: 117,903,813 I569M probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Kif26b A G 1: 178,916,068 Y1243C probably benign Het
Map3k12 T C 15: 102,502,075 E489G probably damaging Het
Nrxn1 A G 17: 90,704,208 V331A probably damaging Het
Ntrk1 G A 3: 87,781,797 L529F probably damaging Het
Obscn A T 11: 59,028,533 C6882S possibly damaging Het
Olfr126 A C 17: 37,851,263 T224P probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Ppp1r13b C A 12: 111,835,211 L346F possibly damaging Het
Psg22 T C 7: 18,724,571 S396P probably damaging Het
Rbm19 A G 5: 120,143,405 E797G probably damaging Het
Ros1 T G 10: 52,178,969 D79A probably damaging Het
Scn10a C T 9: 119,658,433 V612I possibly damaging Het
Sema4c A G 1: 36,550,341 V568A probably damaging Het
Soga1 A T 2: 157,030,906 V895E probably damaging Het
Trim30b C T 7: 104,365,900 V94M probably damaging Het
Wasl A T 6: 24,619,187 S445T unknown Het
Zfp541 A G 7: 16,079,695 K758E probably damaging Het
Other mutations in Traf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Traf5 APN 1 192057174 missense possibly damaging 0.95
IGL01462:Traf5 APN 1 191999867 missense probably benign
IGL02579:Traf5 APN 1 191999887 missense probably damaging 0.99
IGL03308:Traf5 APN 1 191997500 missense probably damaging 0.99
PIT4445001:Traf5 UTSW 1 191997807 missense
R0028:Traf5 UTSW 1 192074121 intron probably benign
R0689:Traf5 UTSW 1 191997876 missense probably benign 0.16
R1511:Traf5 UTSW 1 191999951 missense probably benign 0.01
R1641:Traf5 UTSW 1 191997509 missense probably benign 0.20
R2235:Traf5 UTSW 1 192054391 missense probably damaging 1.00
R2246:Traf5 UTSW 1 192066890 splice site probably null
R2301:Traf5 UTSW 1 191997965 missense probably benign 0.01
R3973:Traf5 UTSW 1 191997876 missense probably benign 0.16
R4396:Traf5 UTSW 1 191997845 missense probably benign 0.22
R4793:Traf5 UTSW 1 191997804 missense probably benign 0.38
R4834:Traf5 UTSW 1 192066898 missense probably benign 0.10
R5779:Traf5 UTSW 1 191997672 missense probably damaging 1.00
R5795:Traf5 UTSW 1 191999846 missense probably benign 0.00
R5843:Traf5 UTSW 1 191997485 missense possibly damaging 0.55
R5912:Traf5 UTSW 1 191998069 intron probably benign
R5963:Traf5 UTSW 1 192000016 missense probably benign 0.06
R6246:Traf5 UTSW 1 192070553 missense probably damaging 0.99
R6287:Traf5 UTSW 1 191999872 missense probably damaging 1.00
R6455:Traf5 UTSW 1 191999926 missense probably benign 0.00
R7248:Traf5 UTSW 1 192059017 missense probably benign 0.20
R7452:Traf5 UTSW 1 191999831 missense
Posted On2015-04-16