Incidental Mutation 'IGL02409:Tnfrsf23'
ID292216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf23
Ensembl Gene ENSMUSG00000037613
Gene Nametumor necrosis factor receptor superfamily, member 23
SynonymsmSOB, mDcTrailr1, Tnfrh1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02409
Quality Score
Status
Chromosome7
Chromosomal Location143665809-143685872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 143668571 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 168 (L168Q)
Ref Sequence ENSEMBL: ENSMUSP00000116742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035742] [ENSMUST00000152703] [ENSMUST00000208017]
Predicted Effect probably benign
Transcript: ENSMUST00000035742
SMART Domains Protein: ENSMUSP00000042431
Gene: ENSMUSG00000037613

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TNFR 38 72 1.55e-1 SMART
TNFR 75 104 3.12e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152703
AA Change: L168Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116742
Gene: ENSMUSG00000037613
AA Change: L168Q

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TNFR 38 72 1.55e-1 SMART
TNFR 75 114 1.29e-7 SMART
TNFR 116 155 2.14e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207189
Predicted Effect possibly damaging
Transcript: ENSMUST00000208017
AA Change: Y131N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the tumor necrosis factor superfamily of proteins. The encoded receptor has been shown to bind to the ligand TRAIL (tumor necrosis factor-related apoptosis-inducing ligand), but to have no signaling capacity. This gene shows elevated expression in mice with diet-induced fatty liver disease. This gene and other family members are present in a gene cluster on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,399,725 M104L probably benign Het
Cdkn1a T C 17: 29,098,454 V16A probably benign Het
Celsr2 C A 3: 108,413,955 V514F probably damaging Het
Cmya5 T C 13: 93,090,198 N2794S probably damaging Het
Dnmt1 T C 9: 20,926,497 T281A probably benign Het
Dock2 A T 11: 34,501,204 N840K probably benign Het
Dscam T C 16: 96,819,888 N540S possibly damaging Het
Elavl1 A T 8: 4,289,838 I248N possibly damaging Het
Fam120a A G 13: 48,967,359 V157A probably benign Het
Fcrls G A 3: 87,252,723 P408L probably benign Het
Gpr1 T A 1: 63,183,716 N120I probably damaging Het
Grin2b T A 6: 136,043,908 M132L possibly damaging Het
Herc2 T A 7: 56,220,469 probably null Het
Lrp1b T G 2: 41,445,196 K778T possibly damaging Het
Mapk10 T A 5: 102,928,230 E389D possibly damaging Het
Ms4a7 G T 19: 11,324,443 Y62* probably null Het
Muc5b A G 7: 141,861,338 T2674A possibly damaging Het
Nbeal1 T C 1: 60,329,335 L2613P probably benign Het
Ncapg2 A T 12: 116,420,717 Y266F probably damaging Het
Olfr1215 C T 2: 89,001,910 C126Y possibly damaging Het
Olfr127 T C 17: 37,903,788 Y81H probably damaging Het
Olfr342 T A 2: 36,528,153 V247E probably damaging Het
Olfr512 A G 7: 108,714,159 I269V probably benign Het
Pkd1 T A 17: 24,573,623 I1428N probably benign Het
Ppil4 T C 10: 7,798,564 probably benign Het
Rev3l T C 10: 39,821,148 V547A possibly damaging Het
Rgsl1 T C 1: 153,826,243 K155R possibly damaging Het
Skap2 T C 6: 51,907,958 D234G possibly damaging Het
Sult2a4 C T 7: 13,984,919 W133* probably null Het
Tbc1d2b C T 9: 90,222,352 S579N probably benign Het
Tdrkh T A 3: 94,430,612 probably benign Het
Thumpd2 A T 17: 81,032,688 F377L probably damaging Het
Tmem132d T C 5: 127,784,888 D723G probably damaging Het
Ttn T C 2: 76,954,630 T818A unknown Het
Uox A T 3: 146,624,626 D130V probably benign Het
Vmn2r45 T C 7: 8,485,728 Y101C probably benign Het
Wdr1 C T 5: 38,531,110 D161N probably benign Het
Other mutations in Tnfrsf23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Tnfrsf23 APN 7 143679999 missense probably damaging 0.99
R1936:Tnfrsf23 UTSW 7 143668554 missense probably benign 0.04
R3840:Tnfrsf23 UTSW 7 143681529 missense probably benign 0.09
R4201:Tnfrsf23 UTSW 7 143670054 missense probably damaging 1.00
R4786:Tnfrsf23 UTSW 7 143680064 missense probably damaging 1.00
R4858:Tnfrsf23 UTSW 7 143681480 missense probably damaging 1.00
R5226:Tnfrsf23 UTSW 7 143685785 missense possibly damaging 0.68
R7687:Tnfrsf23 UTSW 7 143681462 missense probably benign 0.29
R7759:Tnfrsf23 UTSW 7 143670835 missense probably damaging 0.99
Posted On2015-04-16