Incidental Mutation 'IGL02601:Tnfsf11'
ID 300089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf11
Ensembl Gene ENSMUSG00000022015
Gene Name tumor necrosis factor (ligand) superfamily, member 11
Synonyms Ly109l, Trance, osteoclast differentiation factor, RANKL, OPGL, OPGL, ODF
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.478) question?
Stock # IGL02601
Quality Score
Status
Chromosome 14
Chromosomal Location 78514886-78545483 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 78537385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 93 (R93*)
Ref Sequence ENSEMBL: ENSMUSP00000022592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022592]
AlphaFold O35235
PDB Structure CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF MOUSE RANK LIGAND [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF TRANCE/RANKL CYTOKINE. [X-RAY DIFFRACTION]
Mouse RANKL Structure at 1.9A Resolution [X-RAY DIFFRACTION]
Crystal structure of mouse RANKL-RANK complex [X-RAY DIFFRACTION]
Crystal structure of extracellular domains of mouse RANK-RANKL complex [X-RAY DIFFRACTION]
Crystal structure of mouse RANKL-OPG complex [X-RAY DIFFRACTION]
Crystal Structure of mouse RANK bound to RANKL [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000022592
AA Change: R93*
SMART Domains Protein: ENSMUSP00000022592
Gene: ENSMUSG00000022015
AA Change: R93*

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
transmembrane domain 49 71 N/A INTRINSIC
TNF 163 312 7.37e-58 SMART
Coding Region Coverage
Validation Efficiency
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 tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a failure of tooth eruption, osteopetrosis, failure to lactate and arrested alveolar bud differentiation during pregnancy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Tnfsf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0352:Tnfsf11 UTSW 14 78,516,408 (GRCm39) missense probably benign 0.17
R0377:Tnfsf11 UTSW 14 78,537,352 (GRCm39) missense probably benign 0.00
R2062:Tnfsf11 UTSW 14 78,516,362 (GRCm39) missense probably damaging 1.00
R2121:Tnfsf11 UTSW 14 78,537,333 (GRCm39) missense probably benign 0.32
R2178:Tnfsf11 UTSW 14 78,521,682 (GRCm39) missense probably benign 0.00
R2237:Tnfsf11 UTSW 14 78,537,421 (GRCm39) missense possibly damaging 0.77
R2238:Tnfsf11 UTSW 14 78,537,421 (GRCm39) missense possibly damaging 0.77
R2239:Tnfsf11 UTSW 14 78,537,421 (GRCm39) missense possibly damaging 0.77
R2430:Tnfsf11 UTSW 14 78,521,752 (GRCm39) missense probably benign 0.00
R4155:Tnfsf11 UTSW 14 78,537,309 (GRCm39) missense probably benign 0.28
R4197:Tnfsf11 UTSW 14 78,521,752 (GRCm39) missense probably benign 0.00
R4562:Tnfsf11 UTSW 14 78,516,020 (GRCm39) missense probably damaging 1.00
R6141:Tnfsf11 UTSW 14 78,545,299 (GRCm39) missense probably damaging 0.99
R8063:Tnfsf11 UTSW 14 78,516,098 (GRCm39) missense probably damaging 1.00
R8904:Tnfsf11 UTSW 14 78,516,119 (GRCm39) missense possibly damaging 0.88
X0020:Tnfsf11 UTSW 14 78,516,317 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16