Incidental Mutation 'IGL01137:Tnfrsf11a'
ID50335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf11a
Ensembl Gene ENSMUSG00000026321
Gene Nametumor necrosis factor receptor superfamily, member 11a, NFKB activator
SynonymsTRANCE-R, Rank
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #IGL01137
Quality Score
Status
Chromosome1
Chromosomal Location105780718-105847981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 105809422 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 85 (D85N)
Ref Sequence ENSEMBL: ENSMUSP00000027559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027559]
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: D85N

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: D85N

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
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,394,611 probably null Het
Ankrd11 T C 8: 122,884,336 T2583A probably damaging Het
Anxa7 G A 14: 20,456,580 Q431* probably null Het
Asb15 T A 6: 24,556,522 D5E probably benign Het
Bex1 C A X: 136,214,494 D29Y probably damaging Het
Cadm2 G A 16: 66,815,350 T108I probably damaging Het
Cecr2 T G 6: 120,762,028 L1211V probably damaging Het
Cntn2 T C 1: 132,521,297 probably benign Het
Ctrc C A 4: 141,838,754 V198L possibly damaging Het
Cyp2g1 A G 7: 26,814,259 S208G possibly damaging Het
Ddx46 T A 13: 55,669,717 Y718* probably null Het
Dlec1 T C 9: 119,137,311 I1116T probably damaging Het
Dnajc13 A G 9: 104,160,490 Y2177H probably benign Het
Dpp6 T C 5: 27,714,488 F661S probably damaging Het
Dpy19l2 G A 9: 24,658,562 T365I possibly damaging Het
Flot2 T C 11: 78,049,507 Y27H probably damaging Het
Gsta4 T C 9: 78,205,922 Y95H possibly damaging Het
Kir3dl1 A G X: 136,526,611 T192A probably damaging Het
Llgl1 T A 11: 60,709,999 N640K probably benign Het
Lrch1 C T 14: 74,757,092 V691M probably damaging Het
Myh9 T C 15: 77,769,542 D1302G probably benign Het
Myo18a T G 11: 77,827,829 F935V probably damaging Het
Mypn T C 10: 63,152,854 E464G probably benign Het
Olfr1085 A T 2: 86,657,711 I249N possibly damaging Het
Olfr1453 A T 19: 13,028,030 F100I possibly damaging Het
Olfr209 A C 16: 59,361,972 M82R probably benign Het
Olfr685 A G 7: 105,180,488 V290A probably benign Het
R3hdm1 C T 1: 128,181,875 R39C probably damaging Het
Rps3a3 A T 13: 108,671,132 probably benign Het
Sec24b C T 3: 130,007,444 S401N probably benign Het
Slc22a22 C A 15: 57,254,278 G289V probably damaging Het
Stk33 T C 7: 109,329,568 I246V probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Timmdc1 A T 16: 38,518,385 H114Q probably benign Het
Tlcd2 T C 11: 75,469,511 Y127H probably damaging Het
Trbc2 T C 6: 41,547,817 probably benign Het
Unc13b G A 4: 43,091,291 R39H probably damaging Het
Vwa8 T C 14: 79,103,647 L1521P probably damaging Het
Zbtb17 T A 4: 141,466,367 C607* probably null Het
Other mutations in Tnfrsf11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02429:Tnfrsf11a APN 1 105827718 missense probably benign 0.14
IGL03222:Tnfrsf11a APN 1 105821490 missense probably damaging 1.00
IGL03276:Tnfrsf11a APN 1 105821490 missense probably damaging 1.00
PIT4354001:Tnfrsf11a UTSW 1 105821517 missense probably damaging 1.00
R0321:Tnfrsf11a UTSW 1 105844857 nonsense probably null
R0514:Tnfrsf11a UTSW 1 105826992 missense probably damaging 1.00
R0655:Tnfrsf11a UTSW 1 105808155 missense unknown
R1470:Tnfrsf11a UTSW 1 105825048 missense probably damaging 0.96
R1470:Tnfrsf11a UTSW 1 105825048 missense probably damaging 0.96
R1868:Tnfrsf11a UTSW 1 105844705 missense probably damaging 1.00
R2900:Tnfrsf11a UTSW 1 105827061 missense probably benign 0.03
R3418:Tnfrsf11a UTSW 1 105809405 missense possibly damaging 0.84
R3816:Tnfrsf11a UTSW 1 105809360 missense probably damaging 0.96
R3817:Tnfrsf11a UTSW 1 105809360 missense probably damaging 0.96
R3818:Tnfrsf11a UTSW 1 105809360 missense probably damaging 0.96
R3819:Tnfrsf11a UTSW 1 105809360 missense probably damaging 0.96
R3879:Tnfrsf11a UTSW 1 105809360 missense probably damaging 0.96
R4037:Tnfrsf11a UTSW 1 105827739 splice site probably null
R4039:Tnfrsf11a UTSW 1 105827739 splice site probably null
R4238:Tnfrsf11a UTSW 1 105827237 missense probably damaging 1.00
R5708:Tnfrsf11a UTSW 1 105813820 intron probably null
R6102:Tnfrsf11a UTSW 1 105819946 missense possibly damaging 0.62
R6910:Tnfrsf11a UTSW 1 105844546 missense probably damaging 1.00
R7169:Tnfrsf11a UTSW 1 105844695 missense possibly damaging 0.95
R7178:Tnfrsf11a UTSW 1 105827539 missense probably benign 0.04
R7293:Tnfrsf11a UTSW 1 105808141 critical splice acceptor site probably null
R7323:Tnfrsf11a UTSW 1 105844730 missense probably damaging 1.00
R7334:Tnfrsf11a UTSW 1 105827129 missense possibly damaging 0.92
R7607:Tnfrsf11a UTSW 1 105844732 missense probably benign 0.02
R7614:Tnfrsf11a UTSW 1 105827369 missense probably damaging 1.00
R7651:Tnfrsf11a UTSW 1 105809446 missense probably damaging 1.00
R7908:Tnfrsf11a UTSW 1 105809374 missense probably damaging 1.00
R7989:Tnfrsf11a UTSW 1 105809374 missense probably damaging 1.00
Z1177:Tnfrsf11a UTSW 1 105826999 frame shift probably null
Posted On2013-06-21