Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Lman1'

329464

Institutional Source

Beutler Lab

Gene Symbol

Lman1

Ensembl Gene

ENSMUSG00000041891

Gene Name

lectin, mannose-binding, 1

Synonyms

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

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66113810-66135706 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 66124797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116433 (fasta)

Gene Model

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

AlphaFold

Q9D0F3

Predicted Effect

probably benign
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 benign
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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,367,040 (GRCm39)	K49M	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Cdc34b	A	G	11: 94,633,064 (GRCm39)	E88G	probably benign	Het
Cdh2	T	C	18: 16,907,533 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,174,025 (GRCm39)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,395,585 (GRCm39)		probably null	Het
Cfap20dc	A	G	14: 8,536,571 (GRCm38)	L212P	probably damaging	Het
Cmya5	A	T	13: 93,228,833 (GRCm39)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,754,089 (GRCm39)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dnajb4	A	T	3: 151,890,799 (GRCm39)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,472,894 (GRCm39)		probably benign	Het
Ern1	C	A	11: 106,310,868 (GRCm39)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm39)	H170L	probably benign	Het
Fn3krp	T	G	11: 121,317,499 (GRCm39)	D146E	probably benign	Het
Git1	A	G	11: 77,390,650 (GRCm39)	T129A	probably benign	Het
Glrp1	T	A	1: 88,431,196 (GRCm39)	Q58L	unknown	Het
Gpatch2	A	G	1: 186,965,337 (GRCm39)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,713,857 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,313,764 (GRCm39)	N4214S	probably damaging	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Impdh1	G	A	6: 29,204,631 (GRCm39)	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,236,990 (GRCm39)	T447M	probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm39)	E306G	probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mtif2	T	C	11: 29,490,053 (GRCm39)		probably benign	Het
Mvp	C	T	7: 126,601,130 (GRCm39)	M1I	probably null	Het
Myh7	A	T	14: 55,229,311 (GRCm39)	Y162*	probably null	Het
Nemf	G	A	12: 69,361,216 (GRCm39)	H956Y	probably benign	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Patj	A	G	4: 98,423,816 (GRCm39)	K621E	probably damaging	Het
Prss2	A	G	6: 41,499,780 (GRCm39)	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,571,259 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,027 (GRCm39)	V482A	probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,846,774 (GRCm39)		probably benign	Het
Slc5a4b	G	A	10: 75,894,725 (GRCm39)	Q594*	probably null	Het
Slk	T	G	19: 47,603,862 (GRCm39)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,597,277 (GRCm39)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,080,673 (GRCm39)	V2036E	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcstv2a	G	T	13: 120,725,579 (GRCm39)	R81L	probably benign	Het
Tecrl	A	G	5: 83,461,134 (GRCm39)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm39)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttc23	G	A	7: 67,319,904 (GRCm39)	R187Q	probably benign	Het
Ttl	T	C	2: 128,923,977 (GRCm39)	V230A	probably benign	Het
Ube2u	G	A	4: 100,338,843 (GRCm39)	W36*	probably null	Het
Ube4a	A	T	9: 44,857,830 (GRCm39)		probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc45a	A	G	7: 79,982,728 (GRCm39)	I399T	possibly damaging	Het
Utp25	C	T	1: 192,812,445 (GRCm39)	R5Q	possibly damaging	Het
Wdr59	A	C	8: 112,193,419 (GRCm39)		probably null	Het
Zfp24	A	G	18: 24,151,172 (GRCm39)		probably benign	Het
Zfp777	A	T	6: 48,019,041 (GRCm39)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,697,913 (GRCm39)	C265*	probably null	Het
Zzef1	T	A	11: 72,804,157 (GRCm39)	L2633Q	probably damaging	Het

Other mutations in Lman1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00644:Lman1	APN	18	66,130,693 (GRCm39)	nonsense	probably null
IGL01098:Lman1	APN	18	66,124,711 (GRCm39)	missense	probably damaging	1.00
IGL01347:Lman1	APN	18	66,124,681 (GRCm39)	missense	probably damaging	0.99
IGL01701:Lman1	APN	18	66,127,921 (GRCm39)	missense	possibly damaging	0.91
IGL03331:Lman1	APN	18	66,126,275 (GRCm39)	missense	probably benign	0.00
R1101:Lman1	UTSW	18	66,120,969 (GRCm39)	missense	probably benign	0.00
R1434:Lman1	UTSW	18	66,126,144 (GRCm39)	critical splice donor site	probably null
R1785:Lman1	UTSW	18	66,124,653 (GRCm39)	missense	probably damaging	0.99
R1786:Lman1	UTSW	18	66,124,653 (GRCm39)	missense	probably damaging	0.99
R1794:Lman1	UTSW	18	66,124,755 (GRCm39)	missense	probably benign	0.21
R2038:Lman1	UTSW	18	66,131,681 (GRCm39)	missense	probably benign	0.30
R2060:Lman1	UTSW	18	66,131,423 (GRCm39)	intron	probably benign
R2940:Lman1	UTSW	18	66,117,344 (GRCm39)	missense	possibly damaging	0.77
R4125:Lman1	UTSW	18	66,120,932 (GRCm39)	missense	possibly damaging	0.66
R4751:Lman1	UTSW	18	66,131,505 (GRCm39)	missense	probably benign	0.06
R7021:Lman1	UTSW	18	66,124,714 (GRCm39)	missense	probably benign	0.02
R7199:Lman1	UTSW	18	66,127,936 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGAGACGTACCTCCTCTGTTC -3'
(R):5'- AAGTTCTCTGGCACTATAAGCACAC -3'

Sequencing Primer
(F):5'- GTTCATCAAGAATCATATCCAGCTGC -3'
(R):5'- TCTGGCACTATAAGCACACTCTCC -3'

Posted On

2015-07-21