Incidental Mutation 'R2940:Lman1'
ID 255163
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 040517-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # R2940 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 66113810-66135706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 66117344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 466 (P466Q)
Ref Sequence ENSEMBL: ENSMUSP00000113326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048260] [ENSMUST00000120461]
AlphaFold Q9D0F3
Predicted Effect possibly damaging
Transcript: ENSMUST00000048260
AA Change: P466Q

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040140
Gene: ENSMUSG00000041891
AA Change: P466Q

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: P466Q

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113326
Gene: ENSMUSG00000041891
AA Change: P466Q

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 noncoding transcript
Transcript: ENSMUST00000155895
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A G 13: 68,878,424 (GRCm39) W405R probably damaging Het
Apc G A 18: 34,409,723 (GRCm39) R221H probably damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Bltp1 A G 3: 37,012,954 (GRCm39) D1878G probably damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cngb1 T C 8: 95,978,735 (GRCm39) I573V probably benign Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dmap1 G A 4: 117,533,202 (GRCm39) T284M possibly damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif3a T C 19: 60,762,115 (GRCm39) T487A probably benign Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fam180a A T 6: 35,290,564 (GRCm39) S140T possibly damaging Het
Fibcd1 T C 2: 31,707,276 (GRCm39) Y327C probably damaging Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Igfbp1 A G 11: 7,151,970 (GRCm39) T258A probably benign Het
Isl1 T C 13: 116,444,835 (GRCm39) T65A possibly damaging Het
Khdrbs3 T A 15: 68,921,239 (GRCm39) D185E probably damaging Het
Klc1 C T 12: 111,772,451 (GRCm39) R157C possibly damaging Het
Lamc3 A G 2: 31,830,714 (GRCm39) S1484G probably benign Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbea C G 3: 55,842,045 (GRCm39) E1879Q probably benign Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pigc T C 1: 161,798,239 (GRCm39) Y74H possibly damaging Het
Plek C T 11: 16,942,887 (GRCm39) probably null Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rasgrf1 C T 9: 89,873,767 (GRCm39) A692V possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Sh3rf2 G A 18: 42,244,505 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,122,757 (GRCm39) D506G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Sorbs1 T C 19: 40,362,015 (GRCm39) D123G probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Tubb6 A G 18: 67,534,994 (GRCm39) N298D probably damaging Het
Xpo7 G T 14: 70,904,577 (GRCm39) L1020I probably benign Het
Xpo7 A T 14: 70,904,576 (GRCm39) L1020Q probably damaging Het
Zswim4 A T 8: 84,950,377 (GRCm39) L611Q probably damaging Het
Other mutations in Lman1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4125:Lman1 UTSW 18 66,120,932 (GRCm39) missense possibly damaging 0.66
R4471:Lman1 UTSW 18 66,124,797 (GRCm39) unclassified probably benign
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'- TGCCTTGTAGTGAACTGTCTAC -3'
(R):5'- GCCAGTTGTTCTGTGAAAGCG -3'

Sequencing Primer
(F):5'- GTGAACTGTCTACATTAGTGAGAGC -3'
(R):5'- GCGGAAGAATTTTTAAAAGATTGCAG -3'
Posted On 2014-12-29