Incidental Mutation 'IGL01701:Lman1'
ID104476
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 #IGL01701
Quality Score
Status
Chromosome18
Chromosomal Location65980754-66022580 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65994850 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 241 (V241E)
Ref Sequence ENSEMBL: ENSMUSP00000113326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048260] [ENSMUST00000120461] [ENSMUST00000143990]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048260
AA Change: V241E

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040140
Gene: ENSMUSG00000041891
AA Change: V241E

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 possibly damaging
Transcript: ENSMUST00000120461
AA Change: V241E

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113326
Gene: ENSMUSG00000041891
AA Change: V241E

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 possibly damaging
Transcript: ENSMUST00000143990
AA Change: V225E

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116433
Gene: ENSMUSG00000041891
AA Change: V225E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Lman1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2014-01-21