Incidental Mutation 'IGL00852:Lancl1'
ID11724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lancl1
Ensembl Gene ENSMUSG00000026000
Gene NameLanC (bacterial lantibiotic synthetase component C)-like 1
Synonymsp40, LanC-like protein 1, Gpr69a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00852
Quality Score
Status
Chromosome1
Chromosomal Location67000517-67038872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 67004837 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 335 (L335F)
Ref Sequence ENSEMBL: ENSMUSP00000113080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027149] [ENSMUST00000113979] [ENSMUST00000119559]
Predicted Effect probably damaging
Transcript: ENSMUST00000027149
AA Change: L335F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027149
Gene: ENSMUSG00000026000
AA Change: L335F

DomainStartEndE-ValueType
LANC_like 55 399 7.17e-144 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113979
AA Change: L335F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109612
Gene: ENSMUSG00000026000
AA Change: L335F

DomainStartEndE-ValueType
LANC_like 55 399 7.17e-144 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119559
AA Change: L335F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113080
Gene: ENSMUSG00000026000
AA Change: L335F

DomainStartEndE-ValueType
LANC_like 55 399 7.17e-144 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133508
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a null mutation display postnatal neurodegeneration with increased oxidative stress and mitochondrial impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T A 6: 50,589,184 probably null Het
Cfap157 T A 2: 32,779,815 Q252L possibly damaging Het
Chd9 C A 8: 90,973,207 Q622K probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Cypt15 A T X: 39,346,630 R56* probably null Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dmxl2 A T 9: 54,423,313 L721* probably null Het
Dsc2 C T 18: 20,034,683 V718I probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Epb41l1 C T 2: 156,503,718 L214F probably damaging Het
Ibtk A C 9: 85,713,601 Y971D probably benign Het
Pcm1 T C 8: 41,287,821 W1035R probably damaging Het
Pkn2 T A 3: 142,809,816 probably benign Het
Ranbp2 G A 10: 58,477,901 R1481Q probably benign Het
Scn5a T C 9: 119,537,682 N313S probably benign Het
Sept10 A G 10: 59,192,820 probably benign Het
Serpinb6c A T 13: 33,897,338 probably null Het
Slc22a19 C T 19: 7,682,958 M362I probably benign Het
Tnni3k T A 3: 155,054,569 Q43L probably benign Het
Trpm3 T A 19: 22,987,071 V1310D possibly damaging Het
Zdhhc13 T A 7: 48,805,601 S260R probably benign Het
Other mutations in Lancl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Lancl1 APN 1 67020942 missense probably damaging 1.00
IGL01800:Lancl1 APN 1 67020870 missense probably benign 0.08
IGL03036:Lancl1 APN 1 67006915 missense probably damaging 1.00
IGL03329:Lancl1 APN 1 67021050 missense probably damaging 1.00
R0535:Lancl1 UTSW 1 67009906 unclassified probably benign
R0731:Lancl1 UTSW 1 67009910 critical splice donor site probably null
R3798:Lancl1 UTSW 1 67034144 missense probably damaging 1.00
R4405:Lancl1 UTSW 1 67020856 critical splice donor site probably null
R4933:Lancl1 UTSW 1 67021034 missense probably benign 0.08
R4980:Lancl1 UTSW 1 67004809 missense probably benign 0.17
R5193:Lancl1 UTSW 1 67021014 missense probably benign 0.02
R6643:Lancl1 UTSW 1 67004383 missense probably benign 0.07
R7235:Lancl1 UTSW 1 67038535 missense probably benign 0.00
R7250:Lancl1 UTSW 1 67009299 missense possibly damaging 0.54
Posted On2012-12-06