Mutagenetix > Incidental Mutation

Incidental Mutation 'R1434:Lman1'

159416

Institutional Source

Beutler Lab

Gene Symbol

Lman1

Ensembl Gene

ENSMUSG00000041891

Gene Name

lectin, mannose-binding, 1

Synonyms

gp58, F5F8D, ERGIC53, MCFD1, P58, 2610020P13Rik, MR60

MMRRC Submission

039489-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.749) question?

Stock #

R1434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65980754-66022580 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 65993073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048260] [ENSMUST00000120461] [ENSMUST00000143990]

AlphaFold

Q9D0F3

Predicted Effect

probably null
Transcript: ENSMUST00000048260

SMART Domains

Protein: ENSMUSP00000040140
Gene: ENSMUSG00000041891

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Lectin_leg-like	52	277	2.2e-95	PFAM
low complexity region	291	307	N/A	INTRINSIC
transmembrane domain	483	505	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120461

SMART Domains

Protein: ENSMUSP00000113326
Gene: ENSMUSG00000041891

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Lectin_leg-like	52	277	2.2e-95	PFAM
low complexity region	291	307	N/A	INTRINSIC
transmembrane domain	483	505	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143990

SMART Domains

Protein: ENSMUSP00000116433
Gene: ENSMUSG00000041891

Domain	Start	End	E-Value	Type
Pfam:Lectin_leg-like	47	261	7.5e-86	PFAM
low complexity region	275	286	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155895

Meta Mutation Damage Score

0.9598

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit strain dependent postnatal lethality and slightly dilated endoplasmic reticulum in hepatocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4430402I18Rik	G	T	19: 28,927,639		probably benign	Het
Abca12	G	T	1: 71,309,800	H851N	probably benign	Het
Adamtsl4	T	C	3: 95,680,784	Y631C	probably damaging	Het
Ankhd1	A	G	18: 36,625,159	I969V	probably benign	Het
Apob	A	G	12: 8,009,715	I2699M	probably damaging	Het
Aqr	A	T	2: 114,150,409	L297Q	probably damaging	Het
BC067074	G	A	13: 113,368,492	V510I	possibly damaging	Het
Camsap1	A	G	2: 25,945,178	Y301H	probably damaging	Het
Ccdc88c	A	G	12: 100,939,166		probably benign	Het
Cd209b	T	A	8: 3,923,367	I106F	possibly damaging	Het
Cdkn1b	T	A	6: 134,921,097	W60R	probably damaging	Het
Coasy	A	G	11: 101,084,996		probably benign	Het
Col2a1	T	A	15: 97,979,651	Q1017L	probably damaging	Het
Ctnnal1	T	A	4: 56,847,971	N56I	probably damaging	Het
Cyb561d2	T	A	9: 107,541,643		probably benign	Het
Dcst1	G	T	3: 89,352,519	T632N	probably damaging	Het
Ddx1	C	T	12: 13,237,231	V267I	probably benign	Het
Dnah10	A	T	5: 124,774,986	M1736L	probably benign	Het
Eln	G	A	5: 134,729,437		probably benign	Het
Enpp2	A	T	15: 54,862,681	D566E	probably damaging	Het
Ezh1	T	C	11: 101,194,917	K638R	probably damaging	Het
Fam172a	A	T	13: 77,761,922	Y98F	probably damaging	Het
Fdx1l	C	A	9: 21,073,398	G37W	probably benign	Het
Grin2b	T	C	6: 135,843,195	I340V	probably benign	Het
Ikbkap	T	A	4: 56,781,193	E493D	probably benign	Het
Il16	T	C	7: 83,655,312	T671A	probably benign	Het
Kcnd2	T	A	6: 21,216,357	M20K	probably damaging	Het
Kndc1	C	T	7: 139,922,684	S962F	probably damaging	Het
L1td1	A	G	4: 98,737,817	S750G	possibly damaging	Het
Lama2	A	G	10: 27,208,370	C935R	probably damaging	Het
Lgalsl	T	C	11: 20,826,418	D158G	possibly damaging	Het
Lmtk2	A	G	5: 144,174,589	E709G	probably damaging	Het
Lrfn3	T	C	7: 30,355,927	H531R	possibly damaging	Het
Mark3	A	G	12: 111,623,325		probably benign	Het
Mov10	T	C	3: 104,795,174	E997G	probably damaging	Het
Myo15	T	A	11: 60,504,331	W2484R	probably benign	Het
Myo1g	G	T	11: 6,509,372	Q833K	probably benign	Het
Ncoa3	T	A	2: 166,055,510	D740E	probably benign	Het
Nol12	A	G	15: 78,937,953		probably benign	Het
Nrxn2	T	A	19: 6,443,612		probably null	Het
Nsfl1c	A	C	2: 151,500,746	I79L	probably benign	Het
Olfr1462	A	G	19: 13,191,298	I210M	probably benign	Het
Olfr173	G	T	16: 58,797,448	H133N	probably benign	Het
Olfr691	T	C	7: 105,337,261	I152V	probably benign	Het
Osbpl8	A	C	10: 111,291,581	E842A	probably benign	Het
Pdxk	G	T	10: 78,440,811	T310K	probably benign	Het
Phip	T	G	9: 82,959,605	K54Q	probably damaging	Het
Pklr	A	T	3: 89,143,035	D366V	probably damaging	Het
Plxna2	T	A	1: 194,751,540		probably benign	Het
Ppp4r3a	A	T	12: 101,043,524	V618E	probably damaging	Het
Prdm12	A	T	2: 31,640,307	Q70L	possibly damaging	Het
Ptpn21	A	T	12: 98,688,590	M706K	probably damaging	Het
Ptprq	A	T	10: 107,586,714	F1606I	probably damaging	Het
Rasgrp4	T	C	7: 29,137,727		probably null	Het
Rlbp1	C	A	7: 79,379,913		probably null	Het
Rtp2	T	C	16: 23,927,443	D166G	probably benign	Het
Ryr3	A	C	2: 112,645,259	F4481V	probably damaging	Het
Scn2a	A	G	2: 65,701,991	D649G	possibly damaging	Het
Slc30a5	T	A	13: 100,803,442	D655V	probably damaging	Het
Slco5a1	G	A	1: 12,871,908	A838V	probably benign	Het
Srprb	A	G	9: 103,190,302	V239A	probably damaging	Het
Tceanc2	T	C	4: 107,147,640	T104A	probably benign	Het
Tcp1	T	C	17: 12,922,606		probably null	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr19	G	A	5: 65,223,504		probably benign	Het
Zadh2	A	G	18: 84,094,471	K91E	probably benign	Het
Zfhx4	T	A	3: 5,241,859	H48Q	probably benign	Het
Zfp787	T	A	7: 6,132,235	H339L	probably damaging	Het
Zfp839	G	T	12: 110,860,899	R408L	probably benign	Het

Other mutations in Lman1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00644:Lman1	APN	18	65997622	nonsense	probably null
IGL01098:Lman1	APN	18	65991640	missense	probably damaging	1.00
IGL01347:Lman1	APN	18	65991610	missense	probably damaging	0.99
IGL01701:Lman1	APN	18	65994850	missense	possibly damaging	0.91
IGL03331:Lman1	APN	18	65993204	missense	probably benign	0.00
R1101:Lman1	UTSW	18	65987898	missense	probably benign	0.00
R1785:Lman1	UTSW	18	65991582	missense	probably damaging	0.99
R1786:Lman1	UTSW	18	65991582	missense	probably damaging	0.99
R1794:Lman1	UTSW	18	65991684	missense	probably benign	0.21
R2038:Lman1	UTSW	18	65998610	missense	probably benign	0.30
R2060:Lman1	UTSW	18	65998352	intron	probably benign
R2940:Lman1	UTSW	18	65984273	missense	possibly damaging	0.77
R4125:Lman1	UTSW	18	65987861	missense	possibly damaging	0.66
R4471:Lman1	UTSW	18	65991726	unclassified	probably benign
R4751:Lman1	UTSW	18	65998434	missense	probably benign	0.06
R7021:Lman1	UTSW	18	65991643	missense	probably benign	0.02
R7199:Lman1	UTSW	18	65994865	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTATTCCACTGCCGTGTTCACAAG -3'
(R):5'- AGCTGTAGACTCTGAGAAGACCGAC -3'

Sequencing Primer
(F):5'- GTGTTCACAAGCCACACTC -3'
(R):5'- TGTGTCCTTGGCAAAACCG -3'

Posted On

2014-03-14