Incidental Mutation 'IGL03109:Tnfrsf4'
ID 419125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf4
Ensembl Gene ENSMUSG00000029075
Gene Name tumor necrosis factor receptor superfamily, member 4
Synonyms Ox40, Txgp1, CD134, ACT35
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL03109
Quality Score
Status
Chromosome 4
Chromosomal Location 156098300-156101069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 156099868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 130 (H130Q)
Ref Sequence ENSEMBL: ENSMUSP00000030952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030952] [ENSMUST00000050078]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030952
AA Change: H130Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030952
Gene: ENSMUSG00000029075
AA Change: H130Q

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TNFR 27 60 6.24e-6 SMART
TNFR 63 103 1.33e-9 SMART
TNFR 126 164 2.59e-3 SMART
transmembrane domain 213 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050078
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
EFh 236 264 3.48e-1 SMART
EFh 284 309 4.08e1 SMART
EFh 317 345 2.9e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195694
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygote null mice have defects in T cell response to antigen including proliferation, production of cytokines, and generation of memory T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,628 (GRCm39) S96R probably benign Het
Abca6 T A 11: 110,071,173 (GRCm39) H1506L probably damaging Het
Adgrg1 T A 8: 95,734,304 (GRCm39) probably benign Het
Ahi1 A G 10: 20,846,841 (GRCm39) T424A probably benign Het
Birc6 T A 17: 74,886,329 (GRCm39) S552R possibly damaging Het
Bptf T C 11: 106,952,527 (GRCm39) T2172A possibly damaging Het
Commd9 T C 2: 101,727,515 (GRCm39) V103A probably benign Het
Ctnnal1 T A 4: 56,839,045 (GRCm39) D216V probably damaging Het
Dcbld2 A G 16: 58,276,765 (GRCm39) T519A probably benign Het
Dennd6b T C 15: 89,069,188 (GRCm39) probably benign Het
Dnah10 A G 5: 124,841,950 (GRCm39) T1369A probably benign Het
Ect2 T C 3: 27,199,121 (GRCm39) T222A possibly damaging Het
Eef2k G A 7: 120,490,949 (GRCm39) G523E probably damaging Het
Ephb2 T G 4: 136,498,855 (GRCm39) T75P probably damaging Het
Exo1 A T 1: 175,727,126 (GRCm39) N479I probably damaging Het
Fign A G 2: 63,811,006 (GRCm39) L88P possibly damaging Het
Golgb1 T A 16: 36,735,973 (GRCm39) V1740E possibly damaging Het
Icos A G 1: 61,036,856 (GRCm39) probably benign Het
Il6ra C A 3: 89,784,165 (GRCm39) G369* probably null Het
Itpr1 A G 6: 108,394,942 (GRCm39) D83G probably damaging Het
Kdm2a A G 19: 4,379,135 (GRCm39) I560T probably benign Het
Lrp1 C T 10: 127,402,514 (GRCm39) R2219H probably benign Het
Mical3 A T 6: 120,986,085 (GRCm39) C119S probably damaging Het
Mipol1 G A 12: 57,411,010 (GRCm39) R267H probably benign Het
Myrip A T 9: 120,282,790 (GRCm39) probably null Het
Nelfb G A 2: 25,091,073 (GRCm39) L542F possibly damaging Het
Nlrp4b T C 7: 10,448,873 (GRCm39) C359R probably damaging Het
Noxred1 T A 12: 87,280,212 (GRCm39) H40L probably damaging Het
Nphp1 A T 2: 127,610,089 (GRCm39) probably benign Het
Or14j8 C T 17: 38,263,378 (GRCm39) C179Y probably damaging Het
Pank3 T A 11: 35,668,501 (GRCm39) F163L probably benign Het
Pde10a T C 17: 9,148,046 (GRCm39) probably null Het
Pigc G A 1: 161,798,345 (GRCm39) R109Q possibly damaging Het
Rfc3 A G 5: 151,566,559 (GRCm39) S297P probably benign Het
Serinc1 A T 10: 57,399,165 (GRCm39) M246K probably benign Het
Slc5a8 C T 10: 88,742,278 (GRCm39) probably benign Het
Tecrl A G 5: 83,457,156 (GRCm39) probably benign Het
Tex14 A T 11: 87,434,191 (GRCm39) E119V probably damaging Het
Tmem94 A G 11: 115,683,224 (GRCm39) K669R probably damaging Het
Trav18 G A 14: 54,069,008 (GRCm39) A18T probably benign Het
Other mutations in Tnfrsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1613:Tnfrsf4 UTSW 4 156,100,619 (GRCm39) missense probably benign 0.07
R1826:Tnfrsf4 UTSW 4 156,100,736 (GRCm39) splice site probably null
R1938:Tnfrsf4 UTSW 4 156,100,692 (GRCm39) missense possibly damaging 0.88
R5540:Tnfrsf4 UTSW 4 156,098,380 (GRCm39) missense probably benign 0.04
R6957:Tnfrsf4 UTSW 4 156,100,625 (GRCm39) missense probably benign 0.00
R7774:Tnfrsf4 UTSW 4 156,098,795 (GRCm39) nonsense probably null
R9663:Tnfrsf4 UTSW 4 156,100,884 (GRCm39) missense probably benign 0.42
Z1177:Tnfrsf4 UTSW 4 156,098,463 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02