Mutagenetix > Incidental Mutation

Incidental Mutation 'R1451:Lgmn'

161687

Institutional Source

Beutler Lab

Gene Symbol

Lgmn

Ensembl Gene

ENSMUSG00000021190

Gene Name

legumain

Synonyms

Prsc1, preprolegumain, 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

102394084-102439813 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 102405892 bp (GRCm38)

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: 32,376,631	E83G	possibly damaging	Het
9530053A07Rik	T	C	7: 28,137,157	F167S	probably damaging	Het
Abca9	A	G	11: 110,127,447	S1116P	probably damaging	Het
Abcc12	T	A	8: 86,557,693	T296S	probably damaging	Het
Adarb2	A	G	13: 8,339,621		probably benign	Het
Arhgef12	C	T	9: 42,992,578		probably benign	Het
Asah1	A	G	8: 41,354,012		probably null	Het
C1ra	A	T	6: 124,521,641	Q431L	probably benign	Het
C1s2	A	T	6: 124,625,494	I580N	probably benign	Het
Cacna2d4	C	T	6: 119,236,824	T68I	probably benign	Het
Car8	A	T	4: 8,189,327	H162Q	probably benign	Het
Ccdc106	A	G	7: 5,059,528	R116G	probably damaging	Het
Ccdc136	T	A	6: 29,419,377	N965K	probably benign	Het
Cd200r3	A	G	16: 44,951,547	E58G	possibly damaging	Het
Cnksr3	T	A	10: 7,126,830	S121C	probably null	Het
Cog6	T	C	3: 53,009,113	M212V	possibly damaging	Het
Ebna1bp2	C	A	4: 118,621,072		probably null	Het
Epha1	C	A	6: 42,361,451	M730I	probably damaging	Het
Fscn2	A	T	11: 120,362,022	E105V	probably damaging	Het
Gars	T	C	6: 55,053,123		probably benign	Het
Itgb4	G	T	11: 115,990,884	G753V	probably damaging	Het
Kif23	C	T	9: 61,924,802	V634M	probably damaging	Het
Krt8	T	C	15: 101,998,829	Y273C	possibly damaging	Het
Lrig3	T	C	10: 126,010,057	I785T	possibly damaging	Het
Lrriq1	A	G	10: 103,202,515		probably benign	Het
Lta4h	A	G	10: 93,480,728	D491G	probably damaging	Het
Megf10	A	T	18: 57,252,859	S315C	probably damaging	Het
Mphosph8	C	T	14: 56,668,421	R24C	possibly damaging	Het
Neurog2	A	G	3: 127,633,841	D38G	possibly damaging	Het
Olfr1364	A	T	13: 21,574,287	Y56*	probably null	Het
Olfr1414	T	A	1: 92,511,795	I78F	possibly damaging	Het
Olfr150	T	A	9: 39,737,316	V167D	probably benign	Het
Olfr30	C	T	11: 58,455,532	R139H	probably benign	Het
Olfr339	G	T	2: 36,421,865	A156S	probably benign	Het
Olfr914	A	T	9: 38,606,938	I158F	probably benign	Het
Pcdhb17	A	T	18: 37,486,936	D593V	probably damaging	Het
Pde2a	G	T	7: 101,421,991	E23*	probably null	Het
Prex2	G	A	1: 11,156,259	V749I	probably benign	Het
Ptchd4	A	G	17: 42,502,918	Y570C	probably damaging	Het
Robo3	C	T	9: 37,417,711	R1237K	probably benign	Het
Slc6a1	C	A	6: 114,307,795	Y87*	probably null	Het
Snx13	G	A	12: 35,078,984	A34T	probably benign	Het
Sppl3	T	C	5: 115,088,365	L193P	probably damaging	Het
Tia1	A	T	6: 86,430,339	Y277F	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trappc2l	T	C	8: 122,615,395	F127L	probably damaging	Het
Ushbp1	G	T	8: 71,386,019	Q588K	possibly damaging	Het
Usp43	T	A	11: 67,856,181	H895L	probably benign	Het
Vmn1r179	T	A	7: 23,928,850	C155*	probably null	Het
Vmn2r8	T	A	5: 108,798,067	D558V	probably damaging	Het
Vps13a	T	C	19: 16,710,864	T860A	probably benign	Het
Vps50	A	G	6: 3,565,628	N522S	possibly damaging	Het
Zfp180	T	C	7: 24,105,218	F354S	probably benign	Het
Zgpat	A	G	2: 181,380,191		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
IGL02150:Lgmn	APN	12	102395727	missense	possibly damaging	0.80
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
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

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