Incidental Mutation 'IGL02243:Traf4'
ID 286058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Traf4
Ensembl Gene ENSMUSG00000017386
Gene Name TNF receptor associated factor 4
Synonyms msp2, CART1, A530032M13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL02243
Quality Score
Status
Chromosome 11
Chromosomal Location 78049325-78056415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78051343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 271 (E271G)
Ref Sequence ENSEMBL: ENSMUSP00000017530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017530] [ENSMUST00000073705] [ENSMUST00000100782] [ENSMUST00000155571]
AlphaFold Q61382
Predicted Effect probably benign
Transcript: ENSMUST00000017530
AA Change: E271G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
AA Change: E271G

DomainStartEndE-ValueType
RING 18 57 1.41e-4 SMART
Pfam:zf-TRAF 102 156 3.4e-19 PFAM
Pfam:zf-TRAF 156 210 4e-12 PFAM
Pfam:zf-TRAF 210 269 4.2e-23 PFAM
low complexity region 287 302 N/A INTRINSIC
MATH 312 445 1.04e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000073705
SMART Domains Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 5.6e-233 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100782
SMART Domains Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750

DomainStartEndE-ValueType
Pfam:FAM222A 1 434 1.9e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149437
Predicted Effect probably benign
Transcript: ENSMUST00000155571
SMART Domains Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 3.2e-259 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations show respiratory problems, various skeletal defects, spina bifida and partial lethality around embryonic day 14. Homozygotes for an ENU-induced mutation exhibit postnatal lethality and hypopigmentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Traf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Traf4 APN 11 78,056,226 (GRCm39) missense possibly damaging 0.93
IGL01354:Traf4 APN 11 78,056,226 (GRCm39) missense possibly damaging 0.93
IGL01361:Traf4 APN 11 78,056,226 (GRCm39) missense possibly damaging 0.93
IGL01375:Traf4 APN 11 78,050,908 (GRCm39) missense probably benign 0.00
IGL01991:Traf4 APN 11 78,050,872 (GRCm39) missense possibly damaging 0.87
IGL02800:Traf4 APN 11 78,051,061 (GRCm39) missense possibly damaging 0.67
IGL02883:Traf4 APN 11 78,052,447 (GRCm39) missense possibly damaging 0.72
PIT4453001:Traf4 UTSW 11 78,052,360 (GRCm39) missense probably benign
R2104:Traf4 UTSW 11 78,050,840 (GRCm39) missense probably damaging 0.99
R2199:Traf4 UTSW 11 78,050,806 (GRCm39) missense probably damaging 1.00
R2298:Traf4 UTSW 11 78,051,677 (GRCm39) missense probably benign 0.08
R2351:Traf4 UTSW 11 78,051,002 (GRCm39) missense probably damaging 1.00
R4547:Traf4 UTSW 11 78,051,863 (GRCm39) missense possibly damaging 0.85
R4854:Traf4 UTSW 11 78,052,346 (GRCm39) nonsense probably null
R6905:Traf4 UTSW 11 78,051,268 (GRCm39) missense probably benign 0.03
R6907:Traf4 UTSW 11 78,051,268 (GRCm39) missense probably benign 0.03
R7384:Traf4 UTSW 11 78,051,617 (GRCm39) critical splice donor site probably null
R9051:Traf4 UTSW 11 78,052,005 (GRCm39) missense probably damaging 1.00
R9205:Traf4 UTSW 11 78,051,927 (GRCm39) missense probably benign 0.06
R9593:Traf4 UTSW 11 78,056,253 (GRCm39) missense possibly damaging 0.92
R9790:Traf4 UTSW 11 78,050,979 (GRCm39) missense probably damaging 1.00
R9791:Traf4 UTSW 11 78,050,979 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16