Mutagenetix > Incidental Mutation

Incidental Mutation 'R1451:Lgmn'

161687

Institutional Source

Beutler Lab

Gene Symbol

Lgmn

Ensembl Gene

ENSMUSG00000021190

Gene Name

legumain

Synonyms

preprolegumain, Prsc1, AEP

MMRRC Submission

039506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1451 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102360341-102405987 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 102372151 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 benign
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 benign
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

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

96% (55/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	C	14: 32,098,588 (GRCm39)	E83G	possibly damaging	Het
Abca9	A	G	11: 110,018,273 (GRCm39)	S1116P	probably damaging	Het
Abcc12	T	A	8: 87,284,322 (GRCm39)	T296S	probably damaging	Het
Adarb2	A	G	13: 8,389,657 (GRCm39)		probably benign	Het
Arhgef12	C	T	9: 42,903,874 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
C1ra	A	T	6: 124,498,600 (GRCm39)	Q431L	probably benign	Het
C1s2	A	T	6: 124,602,453 (GRCm39)	I580N	probably benign	Het
Cacna2d4	C	T	6: 119,213,785 (GRCm39)	T68I	probably benign	Het
Car8	A	T	4: 8,189,327 (GRCm39)	H162Q	probably benign	Het
Ccdc106	A	G	7: 5,062,527 (GRCm39)	R116G	probably damaging	Het
Ccdc136	T	A	6: 29,419,376 (GRCm39)	N965K	probably benign	Het
Cd200r3	A	G	16: 44,771,910 (GRCm39)	E58G	possibly damaging	Het
Cnksr3	T	A	10: 7,076,830 (GRCm39)	S121C	probably null	Het
Cog6	T	C	3: 52,916,534 (GRCm39)	M212V	possibly damaging	Het
Ebna1bp2	C	A	4: 118,478,269 (GRCm39)		probably null	Het
Epha1	C	A	6: 42,338,385 (GRCm39)	M730I	probably damaging	Het
Fcgbpl1	T	C	7: 27,836,582 (GRCm39)	F167S	probably damaging	Het
Fscn2	A	T	11: 120,252,848 (GRCm39)	E105V	probably damaging	Het
Gars1	T	C	6: 55,030,108 (GRCm39)		probably benign	Het
Itgb4	G	T	11: 115,881,710 (GRCm39)	G753V	probably damaging	Het
Kif23	C	T	9: 61,832,084 (GRCm39)	V634M	probably damaging	Het
Krt8	T	C	15: 101,907,264 (GRCm39)	Y273C	possibly damaging	Het
Lrig3	T	C	10: 125,845,926 (GRCm39)	I785T	possibly damaging	Het
Lrriq1	A	G	10: 103,038,376 (GRCm39)		probably benign	Het
Lta4h	A	G	10: 93,316,590 (GRCm39)	D491G	probably damaging	Het
Megf10	A	T	18: 57,385,931 (GRCm39)	S315C	probably damaging	Het
Mphosph8	C	T	14: 56,905,878 (GRCm39)	R24C	possibly damaging	Het
Neurog2	A	G	3: 127,427,490 (GRCm39)	D38G	possibly damaging	Het
Or1j11	G	T	2: 36,311,877 (GRCm39)	A156S	probably benign	Het
Or2w2	A	T	13: 21,758,457 (GRCm39)	Y56*	probably null	Het
Or2z2	C	T	11: 58,346,358 (GRCm39)	R139H	probably benign	Het
Or6b3	T	A	1: 92,439,517 (GRCm39)	I78F	possibly damaging	Het
Or8b50	A	T	9: 38,518,234 (GRCm39)	I158F	probably benign	Het
Or8g50	T	A	9: 39,648,612 (GRCm39)	V167D	probably benign	Het
Pcdhb17	A	T	18: 37,619,989 (GRCm39)	D593V	probably damaging	Het
Pde2a	G	T	7: 101,071,198 (GRCm39)	E23*	probably null	Het
Prex2	G	A	1: 11,226,483 (GRCm39)	V749I	probably benign	Het
Ptchd4	A	G	17: 42,813,809 (GRCm39)	Y570C	probably damaging	Het
Robo3	C	T	9: 37,329,007 (GRCm39)	R1237K	probably benign	Het
Slc6a1	C	A	6: 114,284,756 (GRCm39)	Y87*	probably null	Het
Snx13	G	A	12: 35,128,983 (GRCm39)	A34T	probably benign	Het
Sppl3	T	C	5: 115,226,424 (GRCm39)	L193P	probably damaging	Het
Tia1	A	T	6: 86,407,321 (GRCm39)	Y277F	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc2l	T	C	8: 123,342,134 (GRCm39)	F127L	probably damaging	Het
Ushbp1	G	T	8: 71,838,663 (GRCm39)	Q588K	possibly damaging	Het
Usp43	T	A	11: 67,747,007 (GRCm39)	H895L	probably benign	Het
Vmn1r179	T	A	7: 23,628,275 (GRCm39)	C155*	probably null	Het
Vmn2r8	T	A	5: 108,945,933 (GRCm39)	D558V	probably damaging	Het
Vps13a	T	C	19: 16,688,228 (GRCm39)	T860A	probably benign	Het
Vps50	A	G	6: 3,565,628 (GRCm39)	N522S	possibly damaging	Het
Zfp180	T	C	7: 23,804,643 (GRCm39)	F354S	probably benign	Het
Zgpat	A	G	2: 181,021,984 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCCTTTGAACACGGTCCCTGGT -3'
(R):5'- TTCGGTTCCCGAGATCCGCA -3'

Sequencing Primer
(F):5'- gaagaggcaagattgcatgag -3'
(R):5'- TCGCGTAATGGCGAGTTT -3'

Posted On

2014-03-14