Incidental Mutation 'R4155:Tnfsf11'
ID 315110
Institutional Source Beutler Lab
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
MMRRC Submission 040999-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.435) question?
Stock # R4155 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 78514886-78545483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78537309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 118 (M118T)
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 benign
Transcript: ENSMUST00000022592
AA Change: M118T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022592
Gene: ENSMUSG00000022015
AA Change: M118T

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,644,018 (GRCm39) F69I possibly damaging Het
Akt3 A G 1: 176,924,543 (GRCm39) I184T possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Armc2 A G 10: 41,887,863 (GRCm39) V40A probably damaging Het
Ash2l A G 8: 26,307,482 (GRCm39) Y485H probably damaging Het
Atr T A 9: 95,770,177 (GRCm39) C1202* probably null Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
Birc6 C A 17: 74,903,934 (GRCm39) S1242R probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Bsx A G 9: 40,787,632 (GRCm39) E102G probably benign Het
Casq2 A T 3: 102,040,418 (GRCm39) probably null Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Copa T G 1: 171,928,992 (GRCm39) N251K probably damaging Het
Cst8 C A 2: 148,641,996 (GRCm39) A31E possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Fbn2 C A 18: 58,156,359 (GRCm39) E2487* probably null Het
Hoxd9 A G 2: 74,529,667 (GRCm39) I308V probably benign Het
Ica1l G A 1: 60,053,052 (GRCm39) A162V possibly damaging Het
Kcnj15 A T 16: 95,097,166 (GRCm39) K263* probably null Het
Mettl4 T C 17: 95,048,003 (GRCm39) M213V probably benign Het
Nalf1 T A 8: 9,283,023 (GRCm39) Y342F possibly damaging Het
Ncan C A 8: 70,562,727 (GRCm39) E510D possibly damaging Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Or14a259 T A 7: 86,013,270 (GRCm39) I92L probably benign Het
Or4c127 A G 2: 89,833,004 (GRCm39) S85G probably benign Het
Or52s19 T C 7: 103,008,363 (GRCm39) T13A probably benign Het
Or8d1b A T 9: 38,887,451 (GRCm39) T160S probably damaging Het
P2rx5 A G 11: 73,062,655 (GRCm39) T455A probably damaging Het
Pcdh1 T A 18: 38,336,159 (GRCm39) T159S probably damaging Het
Poln A G 5: 34,166,993 (GRCm39) V755A possibly damaging Het
Pou4f1 C T 14: 104,705,153 (GRCm39) S6N possibly damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Samd4 T A 14: 47,290,403 (GRCm39) M170K possibly damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Tmcc1 C T 6: 116,110,765 (GRCm39) G176D probably benign Het
Tmem232 A T 17: 65,743,328 (GRCm39) M321K probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Ttc27 T G 17: 75,147,455 (GRCm39) I669S probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Wdr64 T A 1: 175,597,172 (GRCm39) L73H probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Other mutations in Tnfsf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02601:Tnfsf11 APN 14 78,537,385 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGAATACCCGTGTCGCACATC -3'
(R):5'- GTCACAGTTCATTAACTATAACCCC -3'

Sequencing Primer
(F):5'- CCACATGGTTGGGAACTGATTC -3'
(R):5'- ACTATAACCCCTTTCATATCCTTTCC -3'
Posted On 2015-05-14