Incidental Mutation 'IGL02375:Rgn'
ID291076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgn
Ensembl Gene ENSMUSG00000023070
Gene Nameregucalcin
SynonymsSMP30
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02375
Quality Score
Status
ChromosomeX
Chromosomal Location20549787-20562089 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 20550461 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 28 (S28L)
Ref Sequence ENSEMBL: ENSMUSP00000023832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023832]
PDB Structure
mouse SMP30/GNL [X-RAY DIFFRACTION]
mouse SMP30/GNL-1,5-AG complex [X-RAY DIFFRACTION]
mouse SMP30/GNL-glucose complex [X-RAY DIFFRACTION]
mouse SMP30/GNL-xylitol complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000023832
AA Change: S28L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023832
Gene: ENSMUSG00000023070
AA Change: S28L

DomainStartEndE-ValueType
Pfam:SGL 16 264 2.4e-80 PFAM
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 highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene show increased levels of apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F07Rik A G 2: 173,522,703 M14V probably benign Het
1700034J05Rik T A 6: 146,953,315 K76N possibly damaging Het
Agxt A G 1: 93,135,703 E109G probably damaging Het
Alcam T C 16: 52,288,936 T325A probably benign Het
Apol7c T C 15: 77,528,849 E67G probably damaging Het
Bco1 C A 8: 117,113,439 S232Y probably benign Het
Cacna1c A T 6: 118,675,923 V763D probably damaging Het
Ccdc15 T C 9: 37,304,332 D618G probably damaging Het
Col6a5 T C 9: 105,906,113 N1603S unknown Het
Cyp4v3 A G 8: 45,308,374 probably null Het
Eml5 A T 12: 98,844,087 V870E probably damaging Het
Epn2 A G 11: 61,519,671 V512A probably damaging Het
Fam71b G T 11: 46,406,552 V228L probably damaging Het
Farp2 A G 1: 93,576,463 R321G probably damaging Het
Gprasp1 T C X: 135,800,803 S582P probably damaging Het
Grhl2 T C 15: 37,291,577 V303A probably damaging Het
Grik1 A T 16: 87,946,556 F594L probably damaging Het
Hivep1 A G 13: 42,156,449 K722E probably benign Het
Htr5b G A 1: 121,527,835 R119C probably damaging Het
Ifit2 T C 19: 34,574,337 S426P probably benign Het
Kif13a T C 13: 46,825,222 Y234C probably damaging Het
Mios T A 6: 8,222,598 F511I probably benign Het
Mtfmt T C 9: 65,439,567 W148R probably damaging Het
Myo1c C A 11: 75,661,574 T391N probably benign Het
Nlrp1a A T 11: 71,113,513 L710* probably null Het
Nlrp1b A G 11: 71,161,680 I971T probably damaging Het
Nup43 A G 10: 7,673,594 D171G probably damaging Het
Olfr1445 A G 19: 12,883,941 E20G probably benign Het
P2rx7 T C 5: 122,673,656 probably benign Het
Poli C T 18: 70,523,292 G155R probably damaging Het
Rad9b T C 5: 122,333,342 S220G possibly damaging Het
Tcp11l2 G A 10: 84,605,068 probably null Het
Tenm4 G A 7: 96,704,137 V379I possibly damaging Het
Thsd7a A T 6: 12,343,265 C1118S probably damaging Het
Tmem8 T A 17: 26,119,499 Y512N probably benign Het
Trpm7 A G 2: 126,825,744 Y776H probably damaging Het
Trpv4 T C 5: 114,636,357 N222S probably benign Het
Tut1 C T 19: 8,964,039 R397C probably damaging Het
Vmn1r72 T A 7: 11,669,745 T259S probably benign Het
Wdr17 A G 8: 54,696,388 S2P possibly damaging Het
Other mutations in Rgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Rgn APN X 20557517 missense probably benign 0.13
R1400:Rgn UTSW X 20550457 missense probably benign
Posted On2015-04-16