Incidental Mutation 'IGL00644:Lman1'
ID11776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lman1
Ensembl Gene ENSMUSG00000041891
Gene Namelectin, mannose-binding, 1
Synonymsgp58, F5F8D, ERGIC53, MCFD1, P58, 2610020P13Rik, MR60
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.737) question?
Stock #IGL00644
Quality Score
Status
Chromosome18
Chromosomal Location65980754-66022580 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 65997622 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 165 (Q165*)
Ref Sequence ENSEMBL: ENSMUSP00000116433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048260] [ENSMUST00000120461] [ENSMUST00000143990]
Predicted Effect probably null
Transcript: ENSMUST00000048260
AA Change: Q181*
SMART Domains Protein: ENSMUSP00000040140
Gene: ENSMUSG00000041891
AA Change: Q181*

DomainStartEndE-ValueType
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
AA Change: Q181*
SMART Domains Protein: ENSMUSP00000113326
Gene: ENSMUSG00000041891
AA Change: Q181*

DomainStartEndE-ValueType
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: ENSMUST00000143990
AA Change: Q165*
SMART Domains Protein: ENSMUSP00000116433
Gene: ENSMUSG00000041891
AA Change: Q165*

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cabcoco1 C T 10: 68,533,900 E38K probably benign Het
Limch1 G T 5: 67,016,552 A375S probably benign Het
Lrrc7 G A 3: 158,202,368 Q260* probably null Het
Pdzph1 T C 17: 58,888,110 D10G probably benign Het
Secisbp2l G A 2: 125,743,844 P863S probably damaging Het
Slc6a14 T A X: 21,739,656 I588K probably benign Het
Txnrd1 T A 10: 82,885,176 probably benign Het
Other mutations in Lman1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1434:Lman1 UTSW 18 65993073 critical splice donor site probably null
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
Posted On2012-12-06