Incidental Mutation 'R3816:Tnfrsf11a'
ID 274278
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 040881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R3816 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 105708443-105775709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105737085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 64 (T64I)
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 probably damaging
Transcript: ENSMUST00000027559
AA Change: T64I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: T64I

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 0.0899 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Abca2 A G 2: 25,336,083 (GRCm39) Y2151C probably damaging Het
Adamts3 T A 5: 89,853,123 (GRCm39) H509L probably damaging Het
Agfg2 T C 5: 137,652,036 (GRCm39) D441G probably benign Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
As3mt A T 19: 46,696,216 (GRCm39) D8V probably benign Het
Ass1 G T 2: 31,400,117 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,451 (GRCm39) I634V possibly damaging Het
Cflar T C 1: 58,791,582 (GRCm39) V298A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dlec1 C T 9: 118,953,911 (GRCm39) A610V probably damaging Het
Dock1 C T 7: 134,346,015 (GRCm39) R186* probably null Het
E130018O15Rik T C 5: 35,540,110 (GRCm39) noncoding transcript Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gipc2 T C 3: 151,871,481 (GRCm39) K15R probably benign Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Glipr2 G T 4: 43,977,522 (GRCm39) A51S possibly damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
H2-M10.2 A T 17: 36,597,254 (GRCm39) Y20* probably null Het
Hapstr1 T A 16: 8,648,358 (GRCm39) I12N probably damaging Het
Hlcs A G 16: 93,933,947 (GRCm39) V242A probably benign Het
Ifi44 T C 3: 151,454,894 (GRCm39) I110M possibly damaging Het
Il18r1 T C 1: 40,526,132 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Khk T C 5: 31,084,060 (GRCm39) S80P probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo1g A G 11: 6,460,926 (GRCm39) V706A probably benign Het
Npat T C 9: 53,481,216 (GRCm39) S1008P probably damaging Het
Or2ag18 A G 7: 106,405,027 (GRCm39) I214T probably damaging Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pdgfrb A G 18: 61,212,017 (GRCm39) D844G probably damaging Het
Phf3 T C 1: 30,844,834 (GRCm39) D1375G probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rac2 T C 15: 78,450,199 (GRCm39) D47G possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall1 G T 8: 89,759,303 (GRCm39) A267E probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpina3k A G 12: 104,307,221 (GRCm39) E151G probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Slc51b A G 9: 65,321,300 (GRCm39) probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Star G A 8: 26,299,905 (GRCm39) M82I probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Usp32 A G 11: 84,885,210 (GRCm39) probably null Het
Vmn2r18 T C 5: 151,485,148 (GRCm39) N782S probably benign Het
Vwa3a A G 7: 120,399,602 (GRCm39) T1028A probably benign Het
Xrn2 G A 2: 146,870,120 (GRCm39) G270R probably damaging Het
Zbbx G T 3: 74,992,802 (GRCm39) Q231K 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
R3418:Tnfrsf11a UTSW 1 105,737,130 (GRCm39) missense possibly damaging 0.84
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'- CTTCCTGGATGAATGGTCCTG -3'
(R):5'- TGAGGAGAACCACTCAAAGC -3'

Sequencing Primer
(F):5'- GTCCTGTGAGTCAAATCTATAGGC -3'
(R):5'- GGGCATATTTAACAAGATCCTGTGG -3'
Posted On 2015-04-02