Incidental Mutation 'IGL01952:Lcn9'
ID 181084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn9
Ensembl Gene ENSMUSG00000023210
Gene Name lipocalin 9
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL01952
Quality Score
Status
Chromosome 2
Chromosomal Location 25713165-25715549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25714550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 138 (L138P)
Ref Sequence ENSEMBL: ENSMUSP00000023978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023978]
AlphaFold Q9D267
Predicted Effect probably damaging
Transcript: ENSMUST00000023978
AA Change: L138P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023978
Gene: ENSMUSG00000023210
AA Change: L138P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Lipocalin 34 174 6e-37 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 LCN9, 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,184,398 (GRCm39) probably null Het
Bod1l C T 5: 41,974,297 (GRCm39) C2339Y possibly damaging Het
Celsr1 T A 15: 85,847,424 (GRCm39) I1438F probably benign Het
Dbr1 T A 9: 99,464,465 (GRCm39) N297K possibly damaging Het
Dmxl1 A G 18: 50,023,721 (GRCm39) H1668R probably benign Het
Dnai3 T C 3: 145,802,918 (GRCm39) H91R probably damaging Het
Dnajb11 A G 16: 22,684,250 (GRCm39) E91G probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grin2d C A 7: 45,511,704 (GRCm39) R247L probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hacl1 C T 14: 31,363,079 (GRCm39) probably benign Het
Hivep2 C A 10: 14,018,075 (GRCm39) T1854K possibly damaging Het
Htr1d T C 4: 136,170,872 (GRCm39) V367A probably benign Het
Ifi208 T C 1: 173,506,597 (GRCm39) S127P possibly damaging Het
Ifngr2 C T 16: 91,356,876 (GRCm39) P137S probably damaging Het
Mdn1 T C 4: 32,723,657 (GRCm39) V2531A possibly damaging Het
Meioc A T 11: 102,563,011 (GRCm39) I70F possibly damaging Het
Mideas G A 12: 84,220,040 (GRCm39) P305S probably benign Het
Mlph A C 1: 90,861,193 (GRCm39) D276A probably benign Het
Myh1 T A 11: 67,111,218 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,444 (GRCm39) S265N probably benign Het
Ofcc1 G A 13: 40,434,337 (GRCm39) A22V probably damaging Het
Or11j4 T A 14: 50,630,860 (GRCm39) F216I probably benign Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Prlr A G 15: 10,328,428 (GRCm39) D301G possibly damaging Het
Ptk2 T C 15: 73,101,780 (GRCm39) E810G probably damaging Het
Slco1b2 T G 6: 141,616,956 (GRCm39) F430V probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,586 (GRCm39) K646R probably benign Het
Tmem260 C T 14: 48,709,933 (GRCm39) A52V probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Vwa5b1 G A 4: 138,308,528 (GRCm39) P770S probably benign Het
Zfp639 A G 3: 32,569,496 (GRCm39) Y18C probably damaging Het
Other mutations in Lcn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Lcn9 APN 2 25,713,692 (GRCm39) missense possibly damaging 0.91
PIT4418001:Lcn9 UTSW 2 25,714,553 (GRCm39) missense probably damaging 1.00
R1479:Lcn9 UTSW 2 25,713,715 (GRCm39) splice site probably benign
R1657:Lcn9 UTSW 2 25,714,722 (GRCm39) missense probably benign 0.17
R4199:Lcn9 UTSW 2 25,714,773 (GRCm39) missense probably benign 0.15
R4526:Lcn9 UTSW 2 25,714,520 (GRCm39) missense possibly damaging 0.85
R4570:Lcn9 UTSW 2 25,713,591 (GRCm39) missense probably benign 0.04
R5232:Lcn9 UTSW 2 25,714,067 (GRCm39) critical splice donor site probably null
R5577:Lcn9 UTSW 2 25,713,663 (GRCm39) missense probably damaging 1.00
R5849:Lcn9 UTSW 2 25,713,268 (GRCm39) critical splice donor site probably null
R6059:Lcn9 UTSW 2 25,714,737 (GRCm39) missense possibly damaging 0.62
R7748:Lcn9 UTSW 2 25,714,926 (GRCm39) makesense probably null
R9257:Lcn9 UTSW 2 25,714,784 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07