Incidental Mutation 'IGL01952:Lcn9'
ID181084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcn9
Ensembl Gene ENSMUSG00000023210
Gene Namelipocalin 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01952
Quality Score
Status
Chromosome2
Chromosomal Location25823153-25825537 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25824538 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 138 (L138P)
Ref Sequence ENSEMBL: ENSMUSP00000023978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023978]
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: 127,342,478 probably null Het
Bod1l C T 5: 41,816,954 C2339Y possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Celsr1 T A 15: 85,963,223 I1438F probably benign Het
Dbr1 T A 9: 99,582,412 N297K possibly damaging Het
Dmxl1 A G 18: 49,890,654 H1668R probably benign Het
Dnajb11 A G 16: 22,865,500 E91G probably damaging Het
Elmsan1 G A 12: 84,173,266 P305S probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Grin2d C A 7: 45,862,280 R247L probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hacl1 C T 14: 31,641,122 probably benign Het
Hivep2 C A 10: 14,142,331 T1854K possibly damaging Het
Htr1d T C 4: 136,443,561 V367A probably benign Het
Ifi208 T C 1: 173,679,031 S127P possibly damaging Het
Ifngr2 C T 16: 91,559,988 P137S probably damaging Het
Mdn1 T C 4: 32,723,657 V2531A possibly damaging Het
Meioc A T 11: 102,672,185 I70F possibly damaging Het
Mlph A C 1: 90,933,471 D276A probably benign Het
Myh1 T A 11: 67,220,392 probably null Het
Nlrp9a G A 7: 26,558,019 S265N probably benign Het
Ofcc1 G A 13: 40,280,861 A22V probably damaging Het
Olfr736 T A 14: 50,393,403 F216I probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Prlr A G 15: 10,328,342 D301G possibly damaging Het
Ptk2 T C 15: 73,229,931 E810G probably damaging Het
Slco1b2 T G 6: 141,671,230 F430V probably benign Het
Supt6 T C 11: 78,225,760 K646R probably benign Het
Tmem260 C T 14: 48,472,476 A52V probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Vwa5b1 G A 4: 138,581,217 P770S probably benign Het
Wdr63 T C 3: 146,097,163 H91R probably damaging Het
Zfp639 A G 3: 32,515,347 Y18C probably damaging Het
Other mutations in Lcn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Lcn9 APN 2 25823680 missense possibly damaging 0.91
PIT4418001:Lcn9 UTSW 2 25824541 missense probably damaging 1.00
R1479:Lcn9 UTSW 2 25823703 splice site probably benign
R1657:Lcn9 UTSW 2 25824710 missense probably benign 0.17
R4199:Lcn9 UTSW 2 25824761 missense probably benign 0.15
R4526:Lcn9 UTSW 2 25824508 missense possibly damaging 0.85
R4570:Lcn9 UTSW 2 25823579 missense probably benign 0.04
R5232:Lcn9 UTSW 2 25824055 critical splice donor site probably null
R5577:Lcn9 UTSW 2 25823651 missense probably damaging 1.00
R5849:Lcn9 UTSW 2 25823256 critical splice donor site probably null
R6059:Lcn9 UTSW 2 25824725 missense possibly damaging 0.62
R7748:Lcn9 UTSW 2 25824914 makesense probably null
Posted On2014-05-07