Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02637:Lgmn'

301538

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 #

IGL02637

Quality Score

Status

Chromosome

Chromosomal Location

102360341-102405987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102366485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 216 (E216G)

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: E216G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190
AA Change: E216G

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Peptidase_C13	31	288	8e-120	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110020
AA Change: E216G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190
AA Change: E216G

Domain	Start	End	E-Value	Type
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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,309,907 (GRCm39)	Y435C	probably damaging	Het
Adgrb1	C	T	15: 74,460,143 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,199 (GRCm39)		probably benign	Het
Camk1g	G	A	1: 193,030,696 (GRCm39)	P338S	probably benign	Het
Cog3	T	C	14: 75,959,636 (GRCm39)		probably benign	Het
Crat	A	G	2: 30,296,401 (GRCm39)	V355A	probably benign	Het
Ctla2a	T	A	13: 61,083,899 (GRCm39)		probably benign	Het
Dnaaf9	C	A	2: 130,656,227 (GRCm39)		probably benign	Het
Efhb	A	G	17: 53,756,580 (GRCm39)	I357T	probably benign	Het
Fh1	T	C	1: 175,437,332 (GRCm39)	M256V	probably benign	Het
Gabrg3	A	G	7: 56,384,775 (GRCm39)	I262T	probably damaging	Het
Gata2	C	T	6: 88,181,558 (GRCm39)		probably benign	Het
Gm6356	A	G	14: 6,970,926 (GRCm38)	V178A	possibly damaging	Het
Hacl1	T	C	14: 31,362,458 (GRCm39)	E63G	probably damaging	Het
Hid1	A	T	11: 115,241,421 (GRCm39)	I623N	probably damaging	Het
Hivep2	A	G	10: 14,006,452 (GRCm39)	K1017E	possibly damaging	Het
Ifi208	C	T	1: 173,506,508 (GRCm39)	T97I	probably benign	Het
Ighg1	T	C	12: 113,293,132 (GRCm39)	H186R	unknown	Het
Igkv8-26	T	C	6: 70,170,642 (GRCm39)	S78P	probably damaging	Het
Itih3	T	C	14: 30,637,617 (GRCm39)	N514S	probably benign	Het
Kcnj16	A	T	11: 110,916,439 (GRCm39)	D367V	probably benign	Het
Klhl23	A	T	2: 69,659,258 (GRCm39)	R428*	probably null	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrp5	C	T	19: 3,680,269 (GRCm39)	G405D	probably benign	Het
Lrrc74a	C	T	12: 86,788,521 (GRCm39)	R53*	probably null	Het
Lsm12	G	A	11: 102,054,948 (GRCm39)	R123C	probably benign	Het
Marchf5	T	A	19: 37,198,033 (GRCm39)		probably benign	Het
Mark3	C	A	12: 111,559,090 (GRCm39)	A44D	probably damaging	Het
Mndal	T	A	1: 173,685,003 (GRCm39)	N522I	possibly damaging	Het
Nbeal2	G	T	9: 110,455,045 (GRCm39)	R2611S	possibly damaging	Het
Nlrp4d	T	C	7: 10,116,482 (GRCm39)		noncoding transcript	Het
Npnt	T	A	3: 132,590,271 (GRCm39)	I507F	possibly damaging	Het
Or51a7	G	A	7: 102,622,250 (GRCm39)		probably benign	Het
Pde4a	T	A	9: 21,112,628 (GRCm39)	L91Q	probably damaging	Het
Pdzd2	C	T	15: 12,385,720 (GRCm39)	V1017M	probably benign	Het
Pkhd1l1	A	G	15: 44,427,720 (GRCm39)	N3259S	probably damaging	Het
Plxnb2	A	T	15: 89,048,260 (GRCm39)	H683Q	possibly damaging	Het
Reck	T	A	4: 43,898,009 (GRCm39)	S96T	probably damaging	Het
Rnf135	A	G	11: 80,089,704 (GRCm39)	K347E	probably benign	Het
Ro60	A	G	1: 143,646,526 (GRCm39)	V73A	probably damaging	Het
Rxfp2	A	G	5: 149,979,378 (GRCm39)	D246G	probably damaging	Het
Sdk1	C	T	5: 142,080,327 (GRCm39)	T1273I	probably damaging	Het
Slc12a8	A	T	16: 33,355,330 (GRCm39)	M49L	probably benign	Het
Slc5a11	A	T	7: 122,859,728 (GRCm39)		probably null	Het
Surf2	A	G	2: 26,809,790 (GRCm39)	K247E	probably damaging	Het
Sys1	G	A	2: 164,303,312 (GRCm39)	V9M	possibly damaging	Het
Tcf4	G	A	18: 69,480,421 (GRCm39)	D18N	probably damaging	Het
Tmc6	A	T	11: 117,658,416 (GRCm39)	V773D	possibly damaging	Het
Trappc13	T	C	13: 104,286,570 (GRCm39)	Q229R	probably benign	Het
Xkr5	T	C	8: 18,984,099 (GRCm39)	E481G	probably benign	Het
Xpo5	C	A	17: 46,546,905 (GRCm39)	D885E	probably damaging	Het

Other mutations in Lgmn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16