Incidental Mutation 'R4125:Lman1'
ID 315384
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 041633-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # R4125 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 66113810-66135706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66120932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 430 (H430R)
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: H430R

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040140
Gene: ENSMUSG00000041891
AA Change: H430R

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: H430R

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113326
Gene: ENSMUSG00000041891
AA Change: H430R

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: ENSMUST00000144793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155895
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (52/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 T A 3: 98,068,679 (GRCm39) C43S probably damaging Het
Adamts6 A T 13: 104,449,412 (GRCm39) Y274F probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Atm A C 9: 53,361,921 (GRCm39) L2732R probably damaging Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Bmpr1a T C 14: 34,156,690 (GRCm39) D112G probably benign Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Chuk T C 19: 44,088,613 (GRCm39) I121V probably null Het
Ctsr A T 13: 61,309,659 (GRCm39) D183E probably benign Het
Elp3 T C 14: 65,797,630 (GRCm39) E347G possibly damaging Het
Fhip1a A G 3: 85,572,690 (GRCm39) S988P possibly damaging Het
Gnas A G 2: 174,141,958 (GRCm39) N709S possibly damaging Het
Gramd2b T C 18: 56,618,296 (GRCm39) S199P probably damaging Het
Gtf3c1 A T 7: 125,246,622 (GRCm39) C1562* probably null Het
Ifit1bl1 T A 19: 34,572,188 (GRCm39) I90F probably damaging Het
Igf2r A T 17: 12,921,141 (GRCm39) H1313Q possibly damaging Het
Ighj4 T C 12: 113,392,176 (GRCm39) probably benign Het
Kansl2 G T 15: 98,429,636 (GRCm39) P132Q possibly damaging Het
Lrrk2 T C 15: 91,699,686 (GRCm39) I2511T probably benign Het
Lvrn C A 18: 47,010,036 (GRCm39) P395T possibly damaging Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Nectin4 A G 1: 171,213,301 (GRCm39) S408G probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Or52ae9 T C 7: 103,390,207 (GRCm39) K80R probably benign Het
Pcdhb13 T C 18: 37,576,873 (GRCm39) I417T probably damaging Het
Per2 T C 1: 91,357,172 (GRCm39) T664A possibly damaging Het
Plec A T 15: 76,056,962 (GRCm39) L4347Q probably damaging Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Polr1a T C 6: 71,942,690 (GRCm39) F1177L probably benign Het
Pramel24 C T 4: 143,452,850 (GRCm39) R94* probably null Het
Ptprb A T 10: 116,189,754 (GRCm39) R1804S probably benign Het
Rhof C T 5: 123,257,588 (GRCm39) V181M probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc22a12 T C 19: 6,588,818 (GRCm39) E281G probably damaging Het
Slco6b1 T A 1: 96,915,622 (GRCm39) noncoding transcript Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Tcof1 C A 18: 60,952,673 (GRCm39) A898S unknown Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Thoc6 A T 17: 23,888,319 (GRCm39) probably benign Het
Tmem179 A T 12: 112,477,461 (GRCm39) F8I possibly damaging Het
Tnpo3 A G 6: 29,560,091 (GRCm39) L684P probably damaging Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Umps G A 16: 33,777,288 (GRCm39) Q431* probably null Het
Unc13c A G 9: 73,481,289 (GRCm39) probably null Het
Vmn1r210 A T 13: 23,011,779 (GRCm39) M169K probably benign Het
Zfp946 C T 17: 22,673,548 (GRCm39) Q101* probably null 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
R2940:Lman1 UTSW 18 66,117,344 (GRCm39) missense possibly damaging 0.77
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'- GCAGACAGACTTCTACCTTCTACC -3'
(R):5'- TTGACCTTTCCTGGGCTGAG -3'

Sequencing Primer
(F):5'- TTCTACCTTCTACCTAGAAACCCAG -3'
(R):5'- AGGTGGTGGCGCCTAACAG -3'
Posted On 2015-05-14