Incidental Mutation 'R6907:Traf4'
ID 538832
Institutional Source Beutler Lab
Gene Symbol Traf4
Ensembl Gene ENSMUSG00000017386
Gene Name TNF receptor associated factor 4
Synonyms msp2, CART1, A530032M13Rik
MMRRC Submission 044999-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R6907 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 78049325-78056415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78051268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 296 (R296Q)
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: R296Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
AA Change: R296Q

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 probably benign
Transcript: ENSMUST00000155571
SMART Domains Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750

DomainStartEndE-ValueType
Pfam:FAM222A 27 562 3.2e-259 PFAM
Meta Mutation Damage Score 0.0925 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (38/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,698,793 (GRCm39) I344V probably benign Het
Bmper A T 9: 23,310,868 (GRCm39) Q434L probably damaging Het
Cabyr A G 18: 12,883,969 (GRCm39) Y152C probably benign Het
Cactin G A 10: 81,159,278 (GRCm39) probably null Het
Cadps2 T C 6: 23,599,505 (GRCm39) D238G probably damaging Het
Card10 T C 15: 78,671,671 (GRCm39) T598A possibly damaging Het
Ctr9 C T 7: 110,629,449 (GRCm39) P25L probably damaging Het
Entpd5 T C 12: 84,424,127 (GRCm39) T409A probably benign Het
Exd1 A G 2: 119,363,957 (GRCm39) V137A probably damaging Het
Fcgbp G A 7: 27,784,443 (GRCm39) G168R probably damaging Het
Ift88 A G 14: 57,683,067 (GRCm39) N248S probably benign Het
Kntc1 T A 5: 123,939,888 (GRCm39) Y1561N probably damaging Het
Mef2c A G 13: 83,802,730 (GRCm39) D227G probably benign Het
Myh2 C T 11: 67,084,567 (GRCm39) T1702M probably damaging Het
Myo1e T A 9: 70,234,437 (GRCm39) N263K probably benign Het
Nfe2l1 A G 11: 96,710,636 (GRCm39) L373P probably damaging Het
Nob1 C T 8: 108,142,860 (GRCm39) V274M possibly damaging Het
Ntng2 A G 2: 29,118,218 (GRCm39) C77R probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or10ad1c T C 15: 98,085,649 (GRCm39) N10D probably damaging Het
Or5p55 T C 7: 107,567,459 (GRCm39) L285P probably damaging Het
Pcdh7 T A 5: 57,876,471 (GRCm39) W9R possibly damaging Het
Pcdha1 A G 18: 37,064,124 (GRCm39) T263A probably benign Het
Per3 C T 4: 151,128,015 (GRCm39) probably null Het
Pgbd5 A G 8: 125,107,021 (GRCm39) F265L probably damaging Het
Ppm1k T G 6: 57,487,755 (GRCm39) E356A probably benign Het
Ptgfr G T 3: 151,540,938 (GRCm39) T190K possibly damaging Het
Sec24a A G 11: 51,603,103 (GRCm39) Y782H probably damaging Het
Setd1b T C 5: 123,301,295 (GRCm39) probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,090,323 (GRCm39) T253I possibly damaging Het
Tcf4 C T 18: 69,785,484 (GRCm39) T207M probably damaging Het
Thada T C 17: 84,700,897 (GRCm39) N1203S probably damaging Het
Tln2 A T 9: 67,304,917 (GRCm39) S5T probably damaging Het
Ttbk2 A G 2: 120,655,751 (GRCm39) S38P probably benign Het
Vrk1 G T 12: 106,041,291 (GRCm39) Q395H possibly damaging Het
Vwa3a G T 7: 120,391,804 (GRCm39) probably benign Het
Wdsub1 C T 2: 59,692,028 (GRCm39) V335I possibly 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
IGL02243:Traf4 APN 11 78,051,343 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGAGGAATGCAGACACCTG -3'
(R):5'- ATGGGTCCTGCTAGTCAACTC -3'

Sequencing Primer
(F):5'- AGACACCTGCAGCTTGTAG -3'
(R):5'- TCCTGTGGAACTAGGTGCC -3'
Posted On 2018-11-06