Incidental Mutation 'IGL01375:Tnfrsf1b'
ID 78691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf1b
Ensembl Gene ENSMUSG00000028599
Gene Name tumor necrosis factor receptor superfamily, member 1b
Synonyms CD120b, TNFBR, TNFR80, p75, TNFalpha-R2, TNFRII, p75 TNFR, TNF-R2, TNF-R-II, TNF-alphaR2, Tnfr2, TNF-R75
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # IGL01375
Quality Score
Status
Chromosome 4
Chromosomal Location 144940033-144973440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144951986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 126 (Y126C)
Ref Sequence ENSEMBL: ENSMUSP00000030336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030336] [ENSMUST00000143055]
AlphaFold P25119
Predicted Effect probably damaging
Transcript: ENSMUST00000030336
AA Change: Y126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: Y126C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TNFR 40 76 2.15e-9 SMART
TNFR 79 119 2.19e-10 SMART
TNFR 121 163 7.27e-7 SMART
TNFR 166 202 2.22e-2 SMART
transmembrane domain 263 285 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
low complexity region 363 378 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143055
SMART Domains Protein: ENSMUSP00000115702
Gene: ENSMUSG00000028599

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
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 protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 C T 9: 69,390,301 (GRCm39) R68* probably null Het
Apc C T 18: 34,446,707 (GRCm39) S1167L probably damaging Het
Aqp2 A G 15: 99,479,983 (GRCm39) T149A possibly damaging Het
Asb8 T C 15: 98,039,190 (GRCm39) E70G probably damaging Het
Carmil1 T C 13: 24,278,454 (GRCm39) I172V possibly damaging Het
Cd38 A G 5: 44,060,939 (GRCm39) M172V probably benign Het
Dync2i1 G T 12: 116,193,296 (GRCm39) A552E possibly damaging Het
Dyrk2 A G 10: 118,696,592 (GRCm39) V222A probably damaging Het
Ephb6 T A 6: 41,592,845 (GRCm39) probably benign Het
Fbxo15 T C 18: 84,976,404 (GRCm39) S48P possibly damaging Het
Gsdma3 T C 11: 98,520,767 (GRCm39) probably null Het
H2bl1 A G 13: 99,120,650 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,484 (GRCm39) T238A probably benign Het
Kcnh3 G A 15: 99,124,874 (GRCm39) W108* probably null Het
Kdsr A T 1: 106,655,424 (GRCm39) Y272N probably benign Het
Lrp2 A G 2: 69,308,910 (GRCm39) probably benign Het
Nup210l G A 3: 90,067,200 (GRCm39) V747M probably damaging Het
Or10g3 A G 14: 52,609,865 (GRCm39) I215T probably damaging Het
Or4a67 A G 2: 88,597,810 (GRCm39) V283A probably benign Het
Pfn3 T A 13: 55,562,641 (GRCm39) R113S possibly damaging Het
Pik3r4 T C 9: 105,521,803 (GRCm39) I123T possibly damaging Het
Plec A T 15: 76,060,640 (GRCm39) I3121N probably damaging Het
Prepl C T 17: 85,379,419 (GRCm39) G336D possibly damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prps1l1 A G 12: 35,035,631 (GRCm39) T249A possibly damaging Het
Rptor T A 11: 119,787,262 (GRCm39) F1276I possibly damaging Het
Serpina3f G A 12: 104,186,735 (GRCm39) V434I unknown Het
Slc25a12 T C 2: 71,138,394 (GRCm39) probably benign Het
Slc4a4 T C 5: 89,327,593 (GRCm39) C642R probably damaging Het
Slit2 C T 5: 48,439,056 (GRCm39) probably benign Het
Tasor A G 14: 27,162,120 (GRCm39) R159G probably damaging Het
Tgfbr3 A G 5: 107,284,837 (GRCm39) V604A probably benign Het
Traf4 T C 11: 78,050,908 (GRCm39) N416S probably benign Het
Trappc10 A G 10: 78,024,733 (GRCm39) I1132T possibly damaging Het
Vps8 T A 16: 21,378,122 (GRCm39) Y642* probably null Het
Other mutations in Tnfrsf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01716:Tnfrsf1b APN 4 144,942,493 (GRCm39) missense probably damaging 0.97
IGL01974:Tnfrsf1b APN 4 144,942,421 (GRCm39) missense probably damaging 1.00
IGL02631:Tnfrsf1b APN 4 144,951,398 (GRCm39) missense probably damaging 1.00
R0011:Tnfrsf1b UTSW 4 144,949,536 (GRCm39) missense possibly damaging 0.77
R0135:Tnfrsf1b UTSW 4 144,955,616 (GRCm39) missense probably benign 0.15
R0194:Tnfrsf1b UTSW 4 144,951,382 (GRCm39) missense probably benign 0.04
R0761:Tnfrsf1b UTSW 4 144,942,670 (GRCm39) missense possibly damaging 0.95
R1124:Tnfrsf1b UTSW 4 144,950,926 (GRCm39) missense probably benign 0.23
R1696:Tnfrsf1b UTSW 4 144,954,044 (GRCm39) missense probably benign
R3692:Tnfrsf1b UTSW 4 144,954,092 (GRCm39) missense probably benign 0.01
R4248:Tnfrsf1b UTSW 4 144,942,535 (GRCm39) missense probably benign 0.01
R4409:Tnfrsf1b UTSW 4 144,950,855 (GRCm39) nonsense probably null
R4957:Tnfrsf1b UTSW 4 144,973,328 (GRCm39) missense possibly damaging 0.90
R4957:Tnfrsf1b UTSW 4 144,973,327 (GRCm39) missense probably damaging 0.99
R5180:Tnfrsf1b UTSW 4 144,954,067 (GRCm39) missense probably damaging 1.00
R5425:Tnfrsf1b UTSW 4 144,955,678 (GRCm39) critical splice acceptor site probably null
R6163:Tnfrsf1b UTSW 4 144,946,477 (GRCm39) missense probably benign 0.24
R7055:Tnfrsf1b UTSW 4 144,951,457 (GRCm39) missense probably damaging 1.00
R7891:Tnfrsf1b UTSW 4 144,955,660 (GRCm39) missense probably damaging 1.00
R8796:Tnfrsf1b UTSW 4 144,946,485 (GRCm39) missense possibly damaging 0.95
R8919:Tnfrsf1b UTSW 4 144,950,150 (GRCm39) missense probably damaging 1.00
R9658:Tnfrsf1b UTSW 4 144,942,424 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05