Incidental Mutation 'IGL02409:Tnfrsf23'
ID 292216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf23
Ensembl Gene ENSMUSG00000037613
Gene Name tumor necrosis factor receptor superfamily, member 23
Synonyms Tnfrh1, mSOB, mDcTrailr1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02409
Quality Score
Status
Chromosome 7
Chromosomal Location 143219546-143239609 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143222308 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9ER63
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: 15,532,782 (GRCm39) M104L probably benign Het
Cdkn1a T C 17: 29,317,428 (GRCm39) V16A probably benign Het
Celsr2 C A 3: 108,321,271 (GRCm39) V514F probably damaging Het
Cmklr2 T A 1: 63,222,875 (GRCm39) N120I probably damaging Het
Cmya5 T C 13: 93,226,706 (GRCm39) N2794S probably damaging Het
Dnmt1 T C 9: 20,837,793 (GRCm39) T281A probably benign Het
Dock2 A T 11: 34,451,204 (GRCm39) N840K probably benign Het
Dscam T C 16: 96,621,088 (GRCm39) N540S possibly damaging Het
Elavl1 A T 8: 4,339,838 (GRCm39) I248N possibly damaging Het
Fam120a A G 13: 49,120,835 (GRCm39) V157A probably benign Het
Fcrl2 G A 3: 87,160,030 (GRCm39) P408L probably benign Het
Grin2b T A 6: 136,020,906 (GRCm39) M132L possibly damaging Het
Herc2 T A 7: 55,870,217 (GRCm39) probably null Het
Lrp1b T G 2: 41,335,208 (GRCm39) K778T possibly damaging Het
Mapk10 T A 5: 103,076,096 (GRCm39) E389D possibly damaging Het
Ms4a7 G T 19: 11,301,807 (GRCm39) Y62* probably null Het
Muc5b A G 7: 141,415,075 (GRCm39) T2674A possibly damaging Het
Nbeal1 T C 1: 60,368,494 (GRCm39) L2613P probably benign Het
Ncapg2 A T 12: 116,384,337 (GRCm39) Y266F probably damaging Het
Or10a3m A G 7: 108,313,366 (GRCm39) I269V probably benign Het
Or14j6 T C 17: 38,214,679 (GRCm39) Y81H probably damaging Het
Or1j14 T A 2: 36,418,165 (GRCm39) V247E probably damaging Het
Or4c110 C T 2: 88,832,254 (GRCm39) C126Y possibly damaging Het
Pkd1 T A 17: 24,792,597 (GRCm39) I1428N probably benign Het
Ppil4 T C 10: 7,674,328 (GRCm39) probably benign Het
Rev3l T C 10: 39,697,144 (GRCm39) V547A possibly damaging Het
Rgsl1 T C 1: 153,701,989 (GRCm39) K155R possibly damaging Het
Skap2 T C 6: 51,884,938 (GRCm39) D234G possibly damaging Het
Sult2a4 C T 7: 13,718,844 (GRCm39) W133* probably null Het
Tbc1d2b C T 9: 90,104,405 (GRCm39) S579N probably benign Het
Tdrkh T A 3: 94,337,919 (GRCm39) probably benign Het
Thumpd2 A T 17: 81,340,117 (GRCm39) F377L probably damaging Het
Tmem132d T C 5: 127,861,952 (GRCm39) D723G probably damaging Het
Ttn T C 2: 76,784,974 (GRCm39) T818A unknown Het
Uox A T 3: 146,330,381 (GRCm39) D130V probably benign Het
Vmn2r45 T C 7: 8,488,727 (GRCm39) Y101C probably benign Het
Wdr1 C T 5: 38,688,453 (GRCm39) D161N probably benign Het
Other mutations in Tnfrsf23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Tnfrsf23 APN 7 143,233,736 (GRCm39) missense probably damaging 0.99
R1936:Tnfrsf23 UTSW 7 143,222,291 (GRCm39) missense probably benign 0.04
R3840:Tnfrsf23 UTSW 7 143,235,266 (GRCm39) missense probably benign 0.09
R4201:Tnfrsf23 UTSW 7 143,223,791 (GRCm39) missense probably damaging 1.00
R4786:Tnfrsf23 UTSW 7 143,233,801 (GRCm39) missense probably damaging 1.00
R4858:Tnfrsf23 UTSW 7 143,235,217 (GRCm39) missense probably damaging 1.00
R5226:Tnfrsf23 UTSW 7 143,239,522 (GRCm39) missense possibly damaging 0.68
R7687:Tnfrsf23 UTSW 7 143,235,199 (GRCm39) missense probably benign 0.29
R7759:Tnfrsf23 UTSW 7 143,224,572 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16