Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Lgmn'

394605

Institutional Source

Beutler Lab

Gene Symbol

Lgmn

Ensembl Gene

ENSMUSG00000021190

Gene Name

legumain

Synonyms

preprolegumain, Prsc1, AEP

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102360341-102405987 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 102369680 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 null
Transcript: ENSMUST00000021607

SMART Domains

Protein: ENSMUSP00000021607
Gene: ENSMUSG00000021190

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 null
Transcript: ENSMUST00000110020

SMART Domains

Protein: ENSMUSP00000105647
Gene: ENSMUSG00000021190

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCACGCAGGCCATGTTTTC -3'
(R):5'- GTTAGAGCTCCACGTTCGTG -3'

Sequencing Primer
(F):5'- TAAGGACCTGAGTTCAATCCCTAGG -3'
(R):5'- TAGATCAGGCTGGTCTCACTCAAAG -3'

Posted On

2016-06-15