Incidental Mutation 'R6090:Lgmn'
ID 486159
Institutional Source Beutler Lab
Gene Symbol Lgmn
Ensembl Gene ENSMUSG00000021190
Gene Name legumain
Synonyms preprolegumain, Prsc1, AEP
MMRRC Submission 044247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6090 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 102360341-102405987 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102366413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 240 (M240K)
Ref Sequence ENSEMBL: ENSMUSP00000105647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021607] [ENSMUST00000110020]
AlphaFold O89017
Predicted Effect probably damaging
Transcript: ENSMUST00000021607
AA Change: M240K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190
AA Change: M240K

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Peptidase_C13 31 288 8e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110020
AA Change: M240K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190
AA Change: M240K

DomainStartEndE-ValueType
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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
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
A2m C T 6: 121,624,972 (GRCm39) A450V probably benign Het
Abca8a T C 11: 109,954,048 (GRCm39) probably null Het
Adgrl3 A T 5: 81,660,173 (GRCm39) N246I probably damaging Het
Bmal2 T A 6: 146,731,194 (GRCm39) S500T possibly damaging Het
Cdipt A T 7: 126,576,131 (GRCm39) M29L possibly damaging Het
Chml G T 1: 175,514,624 (GRCm39) Y432* probably null Het
Clasp2 G T 9: 113,681,803 (GRCm39) V320L probably benign Het
Col12a1 G A 9: 79,599,675 (GRCm39) T826M probably damaging Het
Cpsf3 A G 12: 21,345,194 (GRCm39) I169V probably damaging Het
Dhx36 G A 3: 62,404,241 (GRCm39) T234M probably damaging Het
Dhx57 A G 17: 80,571,375 (GRCm39) probably null Het
Dnah1 A T 14: 30,991,382 (GRCm39) I3132N possibly damaging Het
Fbxw20 G T 9: 109,052,431 (GRCm39) Q231K probably benign Het
Gfod1 G T 13: 43,354,437 (GRCm39) Y179* probably null Het
Glg1 T A 8: 111,907,667 (GRCm39) I510F probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gse1 C A 8: 121,297,908 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Klrd1 T C 6: 129,572,499 (GRCm39) L97P probably damaging Het
Lrp1b A G 2: 41,075,880 (GRCm39) probably null Het
Notch2 A T 3: 98,042,693 (GRCm39) R1353* probably null Het
Or2d2b A G 7: 106,705,456 (GRCm39) V204A possibly damaging Het
Or5t18 A C 2: 86,636,701 (GRCm39) V214G possibly damaging Het
Pcdhb14 G A 18: 37,581,659 (GRCm39) S255N probably benign Het
Pcgf2 C T 11: 97,581,817 (GRCm39) M25I possibly damaging Het
Poll G T 19: 45,544,436 (GRCm39) D328E probably benign Het
Pomgnt2 A T 9: 121,811,863 (GRCm39) L306Q probably damaging Het
Proser1 A T 3: 53,386,088 (GRCm39) M657L probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Rdh11 G T 12: 79,235,838 (GRCm39) P37T probably benign Het
Rsph10b A T 5: 143,913,946 (GRCm39) I286L probably benign Het
Septin4 G A 11: 87,480,343 (GRCm39) R238K possibly damaging Het
Sptan1 C T 2: 29,883,899 (GRCm39) R580C probably damaging Het
Stard9 T A 2: 120,524,135 (GRCm39) W777R probably damaging Het
Timd2 T C 11: 46,578,063 (GRCm39) T23A probably benign Het
Tmc4 A G 7: 3,674,052 (GRCm39) Y376H probably damaging Het
Tmem143 A G 7: 45,558,950 (GRCm39) I297M probably benign Het
Togaram1 A G 12: 65,014,575 (GRCm39) T609A probably benign Het
Tyw3 T C 3: 154,302,704 (GRCm39) H10R probably benign Het
Unc13b C A 4: 43,239,306 (GRCm39) H3456Q probably damaging Het
Zfp131 A T 13: 120,237,532 (GRCm39) H275Q probably damaging 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
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
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'- ATTGCATGACATGGCTGGTG -3'
(R):5'- GACCCCAGTTTCAAGAGTAGTCC -3'

Sequencing Primer
(F):5'- CCAGGTGGTACTGCTTGTGAAG -3'
(R):5'- TTTCAAGAGTAGTCCAAGGCC -3'
Posted On 2017-08-16