Incidental Mutation 'R5708:Lgmn'
ID 452098
Institutional Source Beutler Lab
Gene Symbol Lgmn
Ensembl Gene ENSMUSG00000021190
Gene Name legumain
Synonyms preprolegumain, Prsc1, AEP
MMRRC Submission 043333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5708 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 102360341-102405987 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102370587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 114 (N114K)
Ref Sequence ENSEMBL: ENSMUSP00000105647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021607] [ENSMUST00000110020]
AlphaFold O89017
Predicted Effect possibly damaging
Transcript: ENSMUST00000021607
AA Change: N114K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190
AA Change: N114K

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Peptidase_C13 31 288 8e-120 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110020
AA Change: N114K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190
AA Change: N114K

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Peptidase_C13 31 288 8e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146499
Meta Mutation Damage Score 0.5667 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik A G 8: 84,729,627 (GRCm39) K101R probably benign Het
4933430I17Rik T C 4: 62,444,106 (GRCm39) S18P probably benign Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aox4 G T 1: 58,285,032 (GRCm39) A595S possibly damaging Het
Asxl2 T A 12: 3,550,603 (GRCm39) S782T possibly damaging Het
C1s2 A T 6: 124,602,702 (GRCm39) L503* probably null Het
C7 A G 15: 5,044,883 (GRCm39) V385A possibly damaging Het
Cdh20 T C 1: 104,912,635 (GRCm39) F630L probably damaging Het
Cdk14 A C 5: 5,316,036 (GRCm39) probably benign Het
Cdkl4 T C 17: 80,846,951 (GRCm39) I239M possibly damaging Het
Cfap299 A T 5: 98,885,566 (GRCm39) M158L probably benign Het
Col11a1 A G 3: 113,890,743 (GRCm39) N360S unknown Het
D630003M21Rik A G 2: 158,062,312 (GRCm39) probably null Het
Dchs1 G A 7: 105,422,016 (GRCm39) P135S probably damaging Het
Dpysl2 A G 14: 67,050,595 (GRCm39) S421P probably benign Het
Edn1 A T 13: 42,457,143 (GRCm39) M59L probably benign Het
EU599041 A G 7: 42,875,311 (GRCm39) noncoding transcript Het
Furin A G 7: 80,047,603 (GRCm39) probably benign Het
Gkn2 T C 6: 87,354,418 (GRCm39) L94P probably damaging Het
Gmeb2 A T 2: 180,906,782 (GRCm39) C117S probably damaging Het
Greb1 T A 12: 16,723,843 (GRCm39) I1869F probably benign Het
Heg1 A G 16: 33,562,774 (GRCm39) E1119G probably damaging Het
Hmgcs2 T A 3: 98,198,478 (GRCm39) L127Q probably damaging Het
Insyn2a C A 7: 134,520,525 (GRCm39) V2F probably damaging Het
Kcnh6 A G 11: 105,911,082 (GRCm39) R493G probably benign Het
Kcnj11 C T 7: 45,749,242 (GRCm39) R27H probably benign Het
Klra14-ps A G 6: 130,134,751 (GRCm39) noncoding transcript Het
Lipg C T 18: 75,088,505 (GRCm39) M148I possibly damaging Het
Megf8 G T 7: 25,034,022 (GRCm39) R607L probably benign Het
Mks1 A G 11: 87,747,665 (GRCm39) T183A probably benign Het
Mllt11 A G 3: 95,127,515 (GRCm39) V85A probably benign Het
Mpo A T 11: 87,692,581 (GRCm39) probably null Het
Muc4 A T 16: 32,575,515 (GRCm39) probably benign Het
Myoz3 T C 18: 60,712,104 (GRCm39) Y158C probably damaging Het
Or11g25 A T 14: 50,723,452 (GRCm39) D179V probably damaging Het
Or4k41 A G 2: 111,280,354 (GRCm39) R290G probably damaging Het
Or5ae1 A G 7: 84,565,391 (GRCm39) I135V possibly damaging Het
Polq T A 16: 36,881,380 (GRCm39) S902R probably damaging Het
Rarb T C 14: 16,548,545 (GRCm38) T93A probably damaging Het
Rgs12 A G 5: 35,123,696 (GRCm39) D493G probably benign Het
Sec31b T A 19: 44,511,583 (GRCm39) D606V probably damaging Het
Setd2 T C 9: 110,377,891 (GRCm39) F569L possibly damaging Het
Sil1 T C 18: 35,474,170 (GRCm39) E149G probably benign Het
Spata13 T G 14: 60,929,452 (GRCm39) S337A probably damaging Het
Srfbp1 T A 18: 52,622,018 (GRCm39) L360M probably damaging Het
Tecta A T 9: 42,250,222 (GRCm39) C1852S probably damaging Het
Tgfbr3l A G 8: 4,300,360 (GRCm39) T208A probably damaging Het
Tmem38b G C 4: 53,849,051 (GRCm39) probably null Het
Tnfrsf11a T A 1: 105,741,545 (GRCm39) probably null Het
Tnik T A 3: 28,666,120 (GRCm39) probably null Het
Tsc1 A T 2: 28,555,197 (GRCm39) probably benign Het
Zfp930 T C 8: 69,679,113 (GRCm39) V41A probably benign Het
Zscan18 A T 7: 12,508,383 (GRCm39) D372E probably benign Het
Other mutations in Lgmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Lgmn APN 12 102,364,435 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GTCTCCAAGGAAACAGGTGC -3'
(R):5'- CTTCCTGTGCTGGTAGACTC -3'

Sequencing Primer
(F):5'- CCAAGGAAACAGGTGCGAACAG -3'
(R):5'- AAAGCTTGCTGAGTTGCCAC -3'
Posted On 2017-01-03