Incidental Mutation 'R3418:Tnfrsf11a'
ID 266877
Institutional Source Beutler Lab
Gene Symbol Tnfrsf11a
Ensembl Gene ENSMUSG00000026321
Gene Name tumor necrosis factor receptor superfamily, member 11a, NFKB activator
Synonyms TRANCE-R, Rank
MMRRC Submission 040636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R3418 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 105708443-105775709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105737130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 79 (D79G)
Ref Sequence ENSEMBL: ENSMUSP00000027559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027559]
AlphaFold O35305
PDB Structure Crystal structure of mouse RANKL-RANK complex [X-RAY DIFFRACTION]
Crystal structure of mouse RANK [X-RAY DIFFRACTION]
Crystal structure of extracellular domains of mouse RANK-RANKL complex [X-RAY DIFFRACTION]
Crystal Structure of mouse RANK bound to RANKL [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027559
AA Change: D79G

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: D79G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
TNFR 35 69 1.48e-7 SMART
TNFR 72 113 2.59e-3 SMART
TNFR 115 152 4.28e-4 SMART
TNFR 155 195 5.27e-4 SMART
transmembrane domain 212 234 N/A INTRINSIC
low complexity region 300 313 N/A INTRINSIC
low complexity region 495 511 N/A INTRINSIC
low complexity region 543 558 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187812
Meta Mutation Damage Score 0.1378 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (61/62)
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 receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out or spontaneous allele exhibit a failure of tooth eruption, osteopetrosis, and abnormal immune system morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,082 (GRCm39) Q42R probably benign Het
Acaa1a A G 9: 119,178,556 (GRCm39) probably null Het
Agbl5 T C 5: 31,062,067 (GRCm39) S756P probably damaging Het
Armc9 T C 1: 86,122,060 (GRCm39) L395P probably damaging Het
Cdc16 C T 8: 13,819,489 (GRCm39) Q362* probably null Het
Cdh5 C T 8: 104,856,002 (GRCm39) R312C probably damaging Het
Cep170b C T 12: 112,704,902 (GRCm39) Q887* probably null Het
Chd9 T C 8: 91,763,219 (GRCm39) I2348T probably damaging Het
Clec9a A G 6: 129,398,001 (GRCm39) probably benign Het
Col6a3 T C 1: 90,731,813 (GRCm39) D873G probably benign Het
D130040H23Rik T C 8: 69,755,579 (GRCm39) I328T probably benign Het
Dido1 G T 2: 180,302,728 (GRCm39) D1725E possibly damaging Het
Dnajb14 A G 3: 137,598,631 (GRCm39) D123G probably null Het
Dock2 A T 11: 34,580,587 (GRCm39) M661K probably damaging Het
Esam C T 9: 37,448,426 (GRCm39) probably null Het
Fam20c A T 5: 138,743,623 (GRCm39) N220Y probably damaging Het
Fat2 G T 11: 55,169,824 (GRCm39) H2978Q probably benign Het
Fbn1 T C 2: 125,162,846 (GRCm39) T2147A possibly damaging Het
Fdft1 T C 14: 63,394,070 (GRCm39) T214A probably damaging Het
Fhl5 T C 4: 25,211,252 (GRCm39) S147G probably benign Het
Flrt2 A G 12: 95,747,378 (GRCm39) Y572C probably damaging Het
Gcat A T 15: 78,926,297 (GRCm39) T56S possibly damaging Het
Gemin5 A T 11: 58,047,454 (GRCm39) probably null Het
Gm4736 A T 6: 132,092,640 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,820,108 (GRCm39) N368S probably benign Het
Gsto1 T C 19: 47,846,344 (GRCm39) F64L probably benign Het
Gucy1a1 A G 3: 82,013,440 (GRCm39) S401P probably damaging Het
Htr1f G A 16: 64,746,260 (GRCm39) P344L probably damaging Het
Ighv7-3 T A 12: 114,116,919 (GRCm39) Y81F probably damaging Het
Jakmip3 C A 7: 138,619,474 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,641 (GRCm39) T194A probably benign Het
Khdrbs3 T C 15: 68,921,224 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lyn A T 4: 3,746,833 (GRCm39) I204F probably damaging Het
Mbd6 C G 10: 127,122,372 (GRCm39) R152P probably null Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Myom2 T G 8: 15,135,294 (GRCm39) I499S probably benign Het
Nos2 T A 11: 78,850,521 (GRCm39) F1126L possibly damaging Het
Or3a4 G A 11: 73,944,814 (GRCm39) T257I probably damaging Het
P2ry1 T C 3: 60,911,133 (GRCm39) F91L probably damaging Het
Pcdh15 C A 10: 74,420,054 (GRCm39) D1166E probably benign Het
Pou6f1 C A 15: 100,478,805 (GRCm39) V368L probably benign Het
Ptcd3 A T 6: 71,860,470 (GRCm39) I579K possibly damaging Het
Rbm45 A G 2: 76,209,362 (GRCm39) E392G probably damaging Het
Rnf168 A G 16: 32,118,010 (GRCm39) N524D probably benign Het
Rnf222 G T 11: 68,783,982 (GRCm39) R183L probably damaging Het
Robo1 C T 16: 72,832,805 (GRCm39) T1526I probably benign Het
Sel1l A G 12: 91,776,776 (GRCm39) W689R probably damaging Het
Serpinb13 T C 1: 106,926,657 (GRCm39) S218P probably damaging Het
Serpini1 A G 3: 75,547,589 (GRCm39) Y367C probably damaging Het
Slc13a2 A G 11: 78,291,666 (GRCm39) F329S probably benign Het
Smc2 T C 4: 52,476,850 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,446 (GRCm39) probably benign Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tdrd1 T A 19: 56,819,663 (GRCm39) N54K possibly damaging Het
Tgfbr2 T C 9: 115,958,901 (GRCm39) Y146C probably damaging Het
Trpa1 T C 1: 14,944,605 (GRCm39) I1046M probably benign Het
Ubn1 A G 16: 4,892,243 (GRCm39) probably benign Het
Ubp1 T C 9: 113,780,754 (GRCm39) probably null Het
Vmn2r2 A T 3: 64,024,320 (GRCm39) F754I probably benign Het
Other mutations in Tnfrsf11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Tnfrsf11a APN 1 105,737,147 (GRCm39) missense possibly damaging 0.80
IGL02429:Tnfrsf11a APN 1 105,755,443 (GRCm39) missense probably benign 0.14
IGL03222:Tnfrsf11a APN 1 105,749,215 (GRCm39) missense probably damaging 1.00
IGL03276:Tnfrsf11a APN 1 105,749,215 (GRCm39) missense probably damaging 1.00
PIT4354001:Tnfrsf11a UTSW 1 105,749,242 (GRCm39) missense probably damaging 1.00
R0321:Tnfrsf11a UTSW 1 105,772,583 (GRCm39) nonsense probably null
R0514:Tnfrsf11a UTSW 1 105,754,717 (GRCm39) missense probably damaging 1.00
R0655:Tnfrsf11a UTSW 1 105,735,880 (GRCm39) missense unknown
R1470:Tnfrsf11a UTSW 1 105,752,773 (GRCm39) missense probably damaging 0.96
R1470:Tnfrsf11a UTSW 1 105,752,773 (GRCm39) missense probably damaging 0.96
R1868:Tnfrsf11a UTSW 1 105,772,431 (GRCm39) missense probably damaging 1.00
R2900:Tnfrsf11a UTSW 1 105,754,786 (GRCm39) missense probably benign 0.03
R3816:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3817:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3818:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3819:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3879:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R4037:Tnfrsf11a UTSW 1 105,755,464 (GRCm39) splice site probably null
R4039:Tnfrsf11a UTSW 1 105,755,464 (GRCm39) splice site probably null
R4238:Tnfrsf11a UTSW 1 105,754,962 (GRCm39) missense probably damaging 1.00
R5708:Tnfrsf11a UTSW 1 105,741,545 (GRCm39) splice site probably null
R6102:Tnfrsf11a UTSW 1 105,747,671 (GRCm39) missense possibly damaging 0.62
R6910:Tnfrsf11a UTSW 1 105,772,272 (GRCm39) missense probably damaging 1.00
R7169:Tnfrsf11a UTSW 1 105,772,421 (GRCm39) missense possibly damaging 0.95
R7178:Tnfrsf11a UTSW 1 105,755,264 (GRCm39) missense probably benign 0.04
R7293:Tnfrsf11a UTSW 1 105,735,866 (GRCm39) critical splice acceptor site probably null
R7323:Tnfrsf11a UTSW 1 105,772,456 (GRCm39) missense probably damaging 1.00
R7334:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R7607:Tnfrsf11a UTSW 1 105,772,458 (GRCm39) missense probably benign 0.02
R7614:Tnfrsf11a UTSW 1 105,755,094 (GRCm39) missense probably damaging 1.00
R7651:Tnfrsf11a UTSW 1 105,737,171 (GRCm39) missense probably damaging 1.00
R7908:Tnfrsf11a UTSW 1 105,737,099 (GRCm39) missense probably damaging 1.00
R8078:Tnfrsf11a UTSW 1 105,745,409 (GRCm39) missense probably damaging 1.00
R8364:Tnfrsf11a UTSW 1 105,745,412 (GRCm39) missense probably damaging 0.99
R8859:Tnfrsf11a UTSW 1 105,772,244 (GRCm39) critical splice acceptor site probably null
R8979:Tnfrsf11a UTSW 1 105,754,825 (GRCm39) missense possibly damaging 0.78
R9008:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9016:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9017:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9052:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
Z1177:Tnfrsf11a UTSW 1 105,754,724 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTGAGTCAAATCTATAGGCTGGTG -3'
(R):5'- TTTTAACCTGAGGCACTGGGG -3'

Sequencing Primer
(F):5'- CAAATCTATAGGCTGGTGTTCATTTC -3'
(R):5'- CTGAGGCACTGGGGACATAAAAC -3'
Posted On 2015-02-18