Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02150:Lgmn'

281957

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lgmn

Ensembl Gene

ENSMUSG00000021190

Gene Name

legumain

Synonyms

Prsc1, preprolegumain, AEP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02150

Quality Score

Status

Chromosome

Chromosomal Location

102394084-102439813 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102395727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 372 (R372G)

Ref Sequence

ENSEMBL: ENSMUSP00000105647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021607] [ENSMUST00000056950] [ENSMUST00000110020] [ENSMUST00000133820]

AlphaFold

O89017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021607
AA Change: R372G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190
AA Change: R372G

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 benign
Transcript: ENSMUST00000056950

SMART Domains

Protein: ENSMUSP00000060771
Gene: ENSMUSG00000044456

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
SH2	61	149	1.89e-2	SMART
low complexity region	254	311	N/A	INTRINSIC
low complexity region	316	325	N/A	INTRINSIC
low complexity region	358	380	N/A	INTRINSIC
low complexity region	448	469	N/A	INTRINSIC
low complexity region	514	523	N/A	INTRINSIC
low complexity region	579	594	N/A	INTRINSIC
low complexity region	714	728	N/A	INTRINSIC
VPS9	736	852	5.75e-38	SMART
RA	873	960	3.5e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110020
AA Change: R372G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190
AA Change: R372G

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 benign
Transcript: ENSMUST00000133820

SMART Domains

Protein: ENSMUSP00000122646
Gene: ENSMUSG00000044456

Domain	Start	End	E-Value	Type
Blast:SH2	1	69	3e-39	BLAST
SCOP:d1a81a2	3	77	2e-4	SMART
low complexity region	174	231	N/A	INTRINSIC
low complexity region	236	245	N/A	INTRINSIC
low complexity region	278	300	N/A	INTRINSIC
low complexity region	368	389	N/A	INTRINSIC
low complexity region	434	443	N/A	INTRINSIC
low complexity region	499	514	N/A	INTRINSIC
low complexity region	634	648	N/A	INTRINSIC
VPS9	656	772	5.75e-38	SMART
RA	793	880	3.5e-4	SMART

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	G	A	7: 140,297,859	G918D	possibly damaging	Het
9530053A07Rik	T	A	7: 28,146,779	Y965*	probably null	Het
AI464131	A	G	4: 41,499,183	V149A	possibly damaging	Het
Ankdd1a	C	T	9: 65,512,719	G92S	probably damaging	Het
Arid1a	A	T	4: 133,687,257	M1221K	unknown	Het
Arl10	G	A	13: 54,578,849	V147M	probably damaging	Het
Bbs4	T	C	9: 59,336,368	N152S	probably benign	Het
Cacna2d2	T	G	9: 107,527,316		probably benign	Het
Capn9	A	G	8: 124,613,843	E582G	probably benign	Het
Cct2	A	T	10: 117,062,099	L61Q	probably damaging	Het
Clip4	A	G	17: 71,799,076	I85V	probably damaging	Het
Daam2	A	T	17: 49,490,304	L151Q	possibly damaging	Het
Dlst	T	A	12: 85,131,033	I400N	possibly damaging	Het
Dock7	A	T	4: 99,079,852		probably benign	Het
Dynlrb2	A	G	8: 116,515,710	N93S	probably benign	Het
Efl1	A	G	7: 82,686,691	T407A	probably benign	Het
Emilin1	A	G	5: 30,920,173	D891G	possibly damaging	Het
Enpp4	A	C	17: 44,102,158	S162A	probably benign	Het
Epas1	A	G	17: 86,805,289	D105G	probably damaging	Het
Gcn1l1	T	A	5: 115,609,868	I1778N	probably damaging	Het
Gm14496	A	C	2: 181,991,347	D41A	probably damaging	Het
Gm7008	T	A	12: 40,223,258		probably benign	Het
Hcfc2	G	A	10: 82,710,018	S246N	probably damaging	Het
Hectd1	T	C	12: 51,769,191	N1366S	probably damaging	Het
Map2k7	A	G	8: 4,243,818	M153V	possibly damaging	Het
Megf8	T	A	7: 25,346,417		probably null	Het
Mgat4c	A	C	10: 102,389,122	E399A	probably benign	Het
Nfat5	C	T	8: 107,367,952	Q942*	probably null	Het
Notch4	A	G	17: 34,584,613	E1502G	probably damaging	Het
Olfr6	G	T	7: 106,956,556	P127T	probably damaging	Het
Olfr895	A	T	9: 38,269,268	I252L	possibly damaging	Het
Optn	A	C	2: 5,033,152	I410M	probably damaging	Het
Ppp1ca	G	A	19: 4,194,699		probably benign	Het
Pramel5	C	A	4: 144,273,201	L105F	possibly damaging	Het
Rad54b	T	A	4: 11,610,502	N706K	probably damaging	Het
Rgs11	A	T	17: 26,202,994	T6S	probably benign	Het
Sbf1	T	C	15: 89,295,480	H1308R	probably benign	Het
Sec31a	T	C	5: 100,386,125		probably benign	Het
Sh2d5	G	A	4: 138,258,242	D334N	probably benign	Het
Skint5	T	A	4: 113,885,791	I360F	unknown	Het
Slc12a1	G	A	2: 125,184,815	D457N	probably damaging	Het
Slco2a1	C	T	9: 103,084,818	A563V	probably damaging	Het
Snrnp35	G	A	5: 124,490,408	A95T	probably damaging	Het
Snx25	C	A	8: 46,116,281	R193L	possibly damaging	Het
Stxbp5	T	G	10: 9,762,821	Q1078P	probably damaging	Het
Tmc2	A	T	2: 130,240,153	I419F	probably damaging	Het
Tmem87a	A	T	2: 120,360,076	W525R	probably damaging	Het
Trhde	A	T	10: 114,592,108	S428T	probably damaging	Het
Trp73	G	A	4: 154,081,486	A42V	possibly damaging	Het
Ttn	T	C	2: 76,848,972		probably benign	Het
Ttn	C	T	2: 76,768,502	V19356M	probably damaging	Het
Vmn1r170	T	A	7: 23,607,040	L289*	probably null	Het
Vwa5b2	A	T	16: 20,604,826	Q1163L	probably benign	Het
Washc2	T	A	6: 116,231,632		probably benign	Het
Wdr70	T	G	15: 8,082,546	K71T	possibly damaging	Het
Zbtb41	T	C	1: 139,440,448	S625P	possibly damaging	Het
Zfp518b	A	G	5: 38,673,789	V291A	probably damaging	Het
Zfp518b	A	G	5: 38,673,343	S440P	probably damaging	Het
Zmym2	G	A	14: 56,911,069		probably benign	Het

Other mutations in Lgmn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Lgmn	APN	12	102398176	splice site	probably benign
IGL02069:Lgmn	APN	12	102404299	missense	possibly damaging	0.92
IGL02228:Lgmn	APN	12	102395714	missense	probably benign	0.04
IGL02637:Lgmn	APN	12	102400226	missense	probably damaging	0.98
Getz	UTSW	12	102399989	missense	probably damaging	0.99
R0233:Lgmn	UTSW	12	102399989	missense	probably damaging	0.99
R0233:Lgmn	UTSW	12	102399989	missense	probably damaging	0.99
R0988:Lgmn	UTSW	12	102398277	missense	probably damaging	0.99
R1451:Lgmn	UTSW	12	102405892	splice site	probably benign
R1568:Lgmn	UTSW	12	102394609	missense	possibly damaging	0.95
R1944:Lgmn	UTSW	12	102401924	missense	probably damaging	1.00
R1972:Lgmn	UTSW	12	102395821	unclassified	probably benign
R2133:Lgmn	UTSW	12	102394908	missense	probably damaging	1.00
R2298:Lgmn	UTSW	12	102395678	missense	probably damaging	0.99
R3846:Lgmn	UTSW	12	102404329	missense	possibly damaging	0.87
R4610:Lgmn	UTSW	12	102400124	splice site	probably benign
R4788:Lgmn	UTSW	12	102402677	missense	probably benign	0.11
R5050:Lgmn	UTSW	12	102403421	splice site	probably null
R5708:Lgmn	UTSW	12	102404328	missense	possibly damaging	0.87
R5969:Lgmn	UTSW	12	102405827	missense	probably damaging	1.00
R6090:Lgmn	UTSW	12	102400154	missense	probably damaging	1.00
R6420:Lgmn	UTSW	12	102423719	nonsense	probably null
R6496:Lgmn	UTSW	12	102398239	missense	probably benign	0.01
R6592:Lgmn	UTSW	12	102404270	missense	probably damaging	1.00
R6659:Lgmn	UTSW	12	102402692	missense	probably benign	0.03
R7063:Lgmn	UTSW	12	102402678	missense	probably damaging	1.00
R7336:Lgmn	UTSW	12	102423739	start gained	probably benign

Posted On

2015-04-16