Incidental Mutation 'IGL00823:Lgmn'
ID 11752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgmn
Ensembl Gene ENSMUSG00000021190
Gene Name legumain
Synonyms preprolegumain, Prsc1, AEP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00823
Quality Score
Chromosome 12
Chromosomal Location 102360341-102405987 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 102364435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021607] [ENSMUST00000110020]
AlphaFold O89017
Predicted Effect probably benign
Transcript: ENSMUST00000021607
SMART Domains Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190

low complexity region 5 22 N/A INTRINSIC
Pfam:Peptidase_C13 31 288 8e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110020
SMART Domains Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190

low complexity region 5 22 N/A INTRINSIC
Pfam:Peptidase_C13 31 288 8e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146499
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cysteine peptidase family C13 that plays an important role in the endosome/lysosomal degradation system. The encoded inactive preproprotein undergoes autocatalytic removal of the C-terminal inhibitory propeptide to generate the active endopeptidase that cleaves protein substrates on the C-terminal side of asparagine residues. Mice lacking the encoded protein exhibit defects in the lysosomal processing of proteins resulting in their accumulation in the lysosomes, and develop symptoms resembling hemophagocytic lymphohistiocytosis. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a null allele exhibit slow postnatal weight gain, develop features of hemophagocytic syndrome, and accumulate giant lysosomes in renal tubule cells. Homozygotes for another null allele display impaired TLR9 signaling in dendritic cells, progressive kidney pathology, and proteinuria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,026,381 (GRCm39) probably benign Het
Adam5 T C 8: 25,308,758 (GRCm39) E39G probably benign Het
Anapc7 G A 5: 122,571,540 (GRCm39) W205* probably null Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arhgef10 T A 8: 14,990,378 (GRCm39) probably benign Het
Atg5 A G 10: 44,239,040 (GRCm39) T274A probably benign Het
Baiap2l2 G T 15: 79,168,765 (GRCm39) probably benign Het
Brap T A 5: 121,803,290 (GRCm39) M146K probably damaging Het
Brpf1 T C 6: 113,298,847 (GRCm39) S1074P probably benign Het
Camta1 A C 4: 151,169,058 (GRCm39) I231R probably benign Het
Ccdc15 C T 9: 37,231,709 (GRCm39) G205D probably benign Het
Cd6 G T 19: 10,773,758 (GRCm39) probably benign Het
Cdh17 T G 4: 11,783,412 (GRCm39) S219R possibly damaging Het
Cgn G A 3: 94,674,519 (GRCm39) R873W probably damaging Het
Ctnna3 C T 10: 63,373,322 (GRCm39) P41L possibly damaging Het
Dmbt1 T C 7: 130,659,888 (GRCm39) W484R probably benign Het
Dmd A G X: 83,469,419 (GRCm39) probably null Het
Dnah17 C T 11: 117,937,987 (GRCm39) V3347I probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Kitl C A 10: 99,923,206 (GRCm39) probably benign Het
Lamc3 A T 2: 31,808,533 (GRCm39) D763V probably damaging Het
Lpcat2 T G 8: 93,591,598 (GRCm39) W81G possibly damaging Het
Myh13 A G 11: 67,246,773 (GRCm39) I1165V probably benign Het
Nf1 A G 11: 79,456,343 (GRCm39) D599G probably damaging Het
Nin T C 12: 70,061,567 (GRCm39) N2099S probably benign Het
Nlrc4 T C 17: 74,754,985 (GRCm39) D77G probably benign Het
Otub1 A G 19: 7,181,416 (GRCm39) probably benign Het
Pabir2 A T X: 52,334,208 (GRCm39) C222S probably damaging Het
Pah A G 10: 87,406,193 (GRCm39) Y174C probably null Het
Rbbp5 G A 1: 132,417,444 (GRCm39) V88I probably damaging Het
Scn1a C T 2: 66,155,279 (GRCm39) R560H probably benign Het
Snx5 T C 2: 144,097,485 (GRCm39) I217V probably benign Het
Syne2 T C 12: 76,036,016 (GRCm39) S3769P probably damaging Het
Tent2 T C 13: 93,322,905 (GRCm39) T15A probably benign Het
Tmem255b T C 8: 13,507,054 (GRCm39) M261T probably benign Het
Top3b T C 16: 16,705,486 (GRCm39) I417T probably damaging Het
Tspan2 T C 3: 102,665,549 (GRCm39) probably null Het
Ttn T C 2: 76,540,057 (GRCm39) T34310A possibly damaging Het
Ush2a G A 1: 188,643,640 (GRCm39) C4334Y possibly damaging Het
Wdpcp A G 11: 21,609,995 (GRCm39) D21G probably damaging Het
Yy2 A C X: 156,351,207 (GRCm39) D186E probably benign Het
Other mutations in Lgmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02069:Lgmn APN 12 102,370,558 (GRCm39) missense possibly damaging 0.92
IGL02150:Lgmn APN 12 102,361,986 (GRCm39) missense possibly damaging 0.80
IGL02228:Lgmn APN 12 102,361,973 (GRCm39) missense probably benign 0.04
IGL02637:Lgmn APN 12 102,366,485 (GRCm39) missense probably damaging 0.98
Getz UTSW 12 102,366,248 (GRCm39) missense probably damaging 0.99
R0233:Lgmn UTSW 12 102,366,248 (GRCm39) missense probably damaging 0.99
R0233:Lgmn UTSW 12 102,366,248 (GRCm39) missense probably damaging 0.99
R0988:Lgmn UTSW 12 102,364,536 (GRCm39) missense probably damaging 0.99
R1451:Lgmn UTSW 12 102,372,151 (GRCm39) splice site probably benign
R1568:Lgmn UTSW 12 102,360,868 (GRCm39) missense possibly damaging 0.95
R1944:Lgmn UTSW 12 102,368,183 (GRCm39) missense probably damaging 1.00
R1972:Lgmn UTSW 12 102,362,080 (GRCm39) unclassified probably benign
R2133:Lgmn UTSW 12 102,361,167 (GRCm39) missense probably damaging 1.00
R2298:Lgmn UTSW 12 102,361,937 (GRCm39) missense probably damaging 0.99
R3846:Lgmn UTSW 12 102,370,588 (GRCm39) missense possibly damaging 0.87
R4610:Lgmn UTSW 12 102,366,383 (GRCm39) splice site probably benign
R4788:Lgmn UTSW 12 102,368,936 (GRCm39) missense probably benign 0.11
R5050:Lgmn UTSW 12 102,369,680 (GRCm39) splice site probably null
R5708:Lgmn UTSW 12 102,370,587 (GRCm39) missense possibly damaging 0.87
R5969:Lgmn UTSW 12 102,372,086 (GRCm39) missense probably damaging 1.00
R6090:Lgmn UTSW 12 102,366,413 (GRCm39) missense probably damaging 1.00
R6420:Lgmn UTSW 12 102,389,978 (GRCm39) nonsense probably null
R6496:Lgmn UTSW 12 102,364,498 (GRCm39) missense probably benign 0.01
R6592:Lgmn UTSW 12 102,370,529 (GRCm39) missense probably damaging 1.00
R6659:Lgmn UTSW 12 102,368,951 (GRCm39) missense probably benign 0.03
R7063:Lgmn UTSW 12 102,368,937 (GRCm39) missense probably damaging 1.00
R7336:Lgmn UTSW 12 102,389,998 (GRCm39) start gained probably benign
Posted On 2012-12-06