Incidental Mutation 'IGL00504:Lmln'
ID5794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmln
Ensembl Gene ENSMUSG00000022802
Gene Nameleishmanolysin-like (metallopeptidase M8 family)
Synonyms5330415H22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL00504
Quality Score
Status
Chromosome16
Chromosomal Location33062521-33127695 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33083065 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 283 (N283S)
Ref Sequence ENSEMBL: ENSMUSP00000023497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023497]
Predicted Effect probably benign
Transcript: ENSMUST00000023497
AA Change: N283S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023497
Gene: ENSMUSG00000022802
AA Change: N283S

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
Pfam:Peptidase_M8 154 289 3.9e-16 PFAM
Pfam:Peptidase_M8 295 633 5.2e-54 PFAM
transmembrane domain 658 680 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105610
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 zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atpaf2 T C 11: 60,405,803 D168G probably damaging Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Cela3b A T 4: 137,423,281 V202E probably damaging Het
Col3a1 A G 1: 45,347,135 D145G probably damaging Het
Cpsf6 A T 10: 117,366,129 probably benign Het
Dock5 A G 14: 67,786,889 probably benign Het
Folh1 T G 7: 86,734,143 R465S probably damaging Het
Garem1 T A 18: 21,148,657 Q214L probably damaging Het
Ldb2 T A 5: 44,541,684 probably null Het
Micalcl A G 7: 112,382,145 N508S possibly damaging Het
Obsl1 C A 1: 75,490,874 G1419C probably benign Het
Pafah1b3 T A 7: 25,296,189 T115S probably benign Het
Pcdhb5 C A 18: 37,322,109 A514E probably damaging Het
Prl8a8 G T 13: 27,509,610 T144K probably damaging Het
Rasgrp1 T A 2: 117,305,791 K105* probably null Het
Rin1 T C 19: 5,052,410 S316P probably benign Het
Serpinb3b A T 1: 107,157,681 F110Y probably benign Het
Sh3bgrl2 C T 9: 83,577,554 P55L probably benign Het
Slc10a2 T A 8: 5,091,668 S239C probably damaging Het
Slc10a2 C A 8: 5,091,667 S239I probably benign Het
Slc6a15 T C 10: 103,389,141 V30A probably benign Het
Sncaip T G 18: 52,884,963 probably null Het
Tcerg1l T C 7: 138,209,804 R554G probably damaging Het
Tfap2b A G 1: 19,214,026 S35G possibly damaging Het
Tor1a A G 2: 30,967,190 I116T probably damaging Het
Tprgl A G 4: 154,158,433 S188P probably damaging Het
Vcan A T 13: 89,691,275 V2050E possibly damaging Het
Zcchc11 G A 4: 108,550,728 R1398H probably damaging Het
Zfp280d T C 9: 72,322,571 C362R probably damaging Het
Other mutations in Lmln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Lmln APN 16 33117120 missense probably benign 0.00
IGL01664:Lmln APN 16 33080987 missense probably benign 0.03
nemeth UTSW 16 33074097 nonsense probably null
R0234:Lmln UTSW 16 33066324 missense probably damaging 0.99
R0234:Lmln UTSW 16 33066324 missense probably damaging 0.99
R0562:Lmln UTSW 16 33117085 nonsense probably null
R1017:Lmln UTSW 16 33088176 missense probably benign
R1557:Lmln UTSW 16 33088211 missense probably benign 0.25
R1617:Lmln UTSW 16 33117130 missense probably damaging 1.00
R2211:Lmln UTSW 16 33109778 missense probably benign 0.00
R4061:Lmln UTSW 16 33066391 nonsense probably null
R4414:Lmln UTSW 16 33109850 missense probably benign 0.00
R4512:Lmln UTSW 16 33088137 missense probably benign 0.01
R4564:Lmln UTSW 16 33109856 missense probably benign 0.09
R4995:Lmln UTSW 16 33074097 nonsense probably null
R5044:Lmln UTSW 16 33074180 missense possibly damaging 0.80
R6109:Lmln UTSW 16 33069111 missense possibly damaging 0.69
R6287:Lmln UTSW 16 33074185 critical splice donor site probably null
R6577:Lmln UTSW 16 33107000 splice site probably null
R6689:Lmln UTSW 16 33104782 missense probably benign 0.19
R7079:Lmln UTSW 16 33067291 missense probably benign 0.02
R7432:Lmln UTSW 16 33089368 missense probably damaging 1.00
R7807:Lmln UTSW 16 33107131 missense probably benign 0.04
Posted On2012-04-20