Incidental Mutation 'IGL01554:Lcn8'
ID 90678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn8
Ensembl Gene ENSMUSG00000036449
Gene Name lipocalin 8
Synonyms mEP17, 9230106L18Rik, EP17
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01554
Quality Score
Status
Chromosome 2
Chromosomal Location 25543132-25546229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25544198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 40 (A40V)
Ref Sequence ENSEMBL: ENSMUSP00000043902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028306] [ENSMUST00000038482] [ENSMUST00000100312] [ENSMUST00000100313]
AlphaFold Q924P3
Predicted Effect probably benign
Transcript: ENSMUST00000028306
SMART Domains Protein: ENSMUSP00000028306
Gene: ENSMUSG00000026937

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 1.6e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000038482
AA Change: A40V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043902
Gene: ENSMUSG00000036449
AA Change: A40V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lipocalin 33 159 2.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100312
SMART Domains Protein: ENSMUSP00000097887
Gene: ENSMUSG00000026937

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100313
SMART Domains Protein: ENSMUSP00000097888
Gene: ENSMUSG00000026937

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Lipocalin 41 180 2.5e-23 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,932,992 (GRCm39) I1211V probably benign Het
Adgre4 A G 17: 56,124,090 (GRCm39) S497G probably damaging Het
Ankrd55 T C 13: 112,459,601 (GRCm39) M65T possibly damaging Het
Entrep3 A G 3: 89,092,888 (GRCm39) T257A probably damaging Het
Ermard A G 17: 15,271,855 (GRCm39) D338G possibly damaging Het
Espl1 T C 15: 102,221,660 (GRCm39) L983P probably damaging Het
Ext2 A C 2: 93,642,294 (GRCm39) L192V probably damaging Het
Fam83b T A 9: 76,409,403 (GRCm39) Y241F probably benign Het
Fbxl12 G A 9: 20,550,215 (GRCm39) P170S possibly damaging Het
Fsip2 C A 2: 82,807,622 (GRCm39) P1314T possibly damaging Het
Greb1l A G 18: 10,522,144 (GRCm39) R747G probably benign Het
Hspa1a G T 17: 35,189,500 (GRCm39) P468T probably damaging Het
Lamb1 T C 12: 31,356,976 (GRCm39) C1028R probably damaging Het
Lmbrd2 A G 15: 9,165,906 (GRCm39) Y260C possibly damaging Het
Mex3d G T 10: 80,217,869 (GRCm39) N449K possibly damaging Het
Mgat4f A G 1: 134,317,696 (GRCm39) N156S probably damaging Het
Ncam2 A G 16: 81,309,823 (GRCm39) K438E possibly damaging Het
Nudt7 A G 8: 114,874,625 (GRCm39) probably benign Het
Nup214 C A 2: 31,941,084 (GRCm39) S39* probably null Het
Opn5 A G 17: 42,918,089 (GRCm39) S58P probably damaging Het
Or6c74 T C 10: 129,870,052 (GRCm39) S186P probably damaging Het
Or7e173 T C 9: 19,938,704 (GRCm39) I177V possibly damaging Het
Pcsk1 T A 13: 75,280,426 (GRCm39) N750K probably benign Het
Pdzrn3 T C 6: 101,127,502 (GRCm39) N1055D probably damaging Het
Phf2 T A 13: 48,959,355 (GRCm39) K884* probably null Het
Prkdc A G 16: 15,470,166 (GRCm39) N191S probably benign Het
Prpf8 A T 11: 75,386,472 (GRCm39) Q987L probably damaging Het
Prrc2c G A 1: 162,538,355 (GRCm39) P425L probably damaging Het
Rab36 T C 10: 74,886,520 (GRCm39) I166T possibly damaging Het
Rab3gap1 G T 1: 127,855,745 (GRCm39) L461F possibly damaging Het
Rnls A T 19: 33,368,499 (GRCm39) Y27N possibly damaging Het
Sncaip A T 18: 53,002,006 (GRCm39) I176F possibly damaging Het
Tagap G A 17: 8,151,780 (GRCm39) G322S probably benign Het
Tas2r130 C T 6: 131,607,046 (GRCm39) A250T probably benign Het
Tgs1 A G 4: 3,593,632 (GRCm39) S507G probably null Het
Ttn T C 2: 76,706,056 (GRCm39) probably benign Het
Zp2 T C 7: 119,737,548 (GRCm39) K246E possibly damaging Het
Other mutations in Lcn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Lcn8 APN 2 25,545,119 (GRCm39) unclassified probably benign
IGL01947:Lcn8 APN 2 25,545,157 (GRCm39) missense probably damaging 1.00
IGL03107:Lcn8 APN 2 25,545,377 (GRCm39) missense probably damaging 1.00
R5945:Lcn8 UTSW 2 25,545,509 (GRCm39) missense probably damaging 1.00
R6436:Lcn8 UTSW 2 25,544,990 (GRCm39) splice site probably null
R7835:Lcn8 UTSW 2 25,545,308 (GRCm39) splice site probably null
R8072:Lcn8 UTSW 2 25,545,184 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09