Incidental Mutation 'IGL02654:Lcat'
ID 302280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcat
Ensembl Gene ENSMUSG00000035237
Gene Name lecithin cholesterol acyltransferase
Synonyms D8Wsu61e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # IGL02654
Quality Score
Status
Chromosome 8
Chromosomal Location 106666183-106670014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106666401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 374 (T374A)
Ref Sequence ENSEMBL: ENSMUSP00000038232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034369] [ENSMUST00000034370] [ENSMUST00000038896] [ENSMUST00000116429]
AlphaFold P16301
Predicted Effect probably benign
Transcript: ENSMUST00000034369
SMART Domains Protein: ENSMUSP00000034369
Gene: ENSMUSG00000031897

DomainStartEndE-ValueType
Pfam:Proteasome 36 217 3.9e-49 PFAM
Pfam:Pr_beta_C 231 267 3.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034370
SMART Domains Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765

DomainStartEndE-ValueType
low complexity region 97 117 N/A INTRINSIC
Pfam:AA_permease 125 318 5.8e-28 PFAM
Pfam:AA_permease 409 698 1.2e-40 PFAM
Pfam:SLC12 710 833 7.1e-18 PFAM
Pfam:SLC12 829 1087 4.8e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000038896
AA Change: T374A

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237
AA Change: T374A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:LCAT 81 414 1.7e-111 PFAM
low complexity region 425 437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116429
SMART Domains Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765

DomainStartEndE-ValueType
low complexity region 95 115 N/A INTRINSIC
Pfam:AA_permease 123 309 7.7e-29 PFAM
Pfam:AA_permease_2 390 654 2.9e-17 PFAM
Pfam:AA_permease 404 696 4.4e-39 PFAM
Pfam:KCl_Cotrans_1 953 982 9.2e-21 PFAM
low complexity region 1065 1080 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212876
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes display severe hypoalphalipoproteinemia, variable hypertriglyceridemia, and accumulation of heterogeneous pre-beta HDL, as well as an attenuated increase in apoB-containing lipoproteins in response to dietary cholesterol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,977,826 (GRCm39) I468T possibly damaging Het
Actmap A G 7: 26,903,298 (GRCm39) E289G probably damaging Het
Anxa13 A G 15: 58,205,397 (GRCm39) noncoding transcript Het
Arhgef33 A G 17: 80,677,740 (GRCm39) Y429C probably damaging Het
Bdh1 T C 16: 31,275,433 (GRCm39) probably benign Het
Dennd4a A G 9: 64,817,473 (GRCm39) probably benign Het
Dld G T 12: 31,383,916 (GRCm39) H396N probably benign Het
Dsg1b T C 18: 20,542,319 (GRCm39) V942A probably damaging Het
Eln A T 5: 134,745,908 (GRCm39) probably benign Het
Fat3 G A 9: 15,908,271 (GRCm39) T2577M possibly damaging Het
Gad1 A T 2: 70,403,125 (GRCm39) K73M possibly damaging Het
Gipc1 T C 8: 84,389,780 (GRCm39) V253A probably damaging Het
Gtpbp10 A C 5: 5,593,372 (GRCm39) probably benign Het
Hgf A T 5: 16,766,049 (GRCm39) T62S probably benign Het
Hivep1 T C 13: 42,311,161 (GRCm39) S1134P probably damaging Het
Hnrnpc A G 14: 52,321,574 (GRCm39) L80S probably damaging Het
Kif20a G A 18: 34,765,076 (GRCm39) R770H probably damaging Het
Mlana A G 19: 29,682,018 (GRCm39) probably null Het
Nhsl3 C T 4: 129,116,112 (GRCm39) G851R probably damaging Het
Nynrin A G 14: 56,100,716 (GRCm39) I169V possibly damaging Het
Or2ag15 A T 7: 106,340,555 (GRCm39) Y195* probably null Het
P3h3 A G 6: 124,822,228 (GRCm39) V585A possibly damaging Het
Pcdhb17 T A 18: 37,619,614 (GRCm39) M468K probably benign Het
Prl8a2 T G 13: 27,536,780 (GRCm39) I134S possibly damaging Het
Rev3l T C 10: 39,738,730 (GRCm39) V2828A probably damaging Het
Rhbdd1 G T 1: 82,320,504 (GRCm39) V163F probably benign Het
Rrp1 A G 10: 78,248,773 (GRCm39) V5A probably benign Het
Sephs1 A T 2: 4,889,366 (GRCm39) N48I probably benign Het
Speer4a3 T A 5: 26,158,205 (GRCm39) H49L probably benign Het
Vmn1r71 A G 7: 10,482,242 (GRCm39) Y149H probably benign Het
Wiz T C 17: 32,578,324 (GRCm39) D396G probably damaging Het
Xirp2 A G 2: 67,345,015 (GRCm39) S2419G possibly damaging Het
Zfp128 A G 7: 12,618,606 (GRCm39) T35A possibly damaging Het
Zmym2 T A 14: 57,148,772 (GRCm39) F362Y probably damaging Het
Other mutations in Lcat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Lcat APN 8 106,668,571 (GRCm39) unclassified probably benign
IGL02678:Lcat APN 8 106,668,572 (GRCm39) splice site probably null
IGL02963:Lcat APN 8 106,666,588 (GRCm39) missense probably damaging 0.99
IGL03304:Lcat APN 8 106,666,695 (GRCm39) missense possibly damaging 0.94
R1754:Lcat UTSW 8 106,668,446 (GRCm39) frame shift probably null
R1757:Lcat UTSW 8 106,668,446 (GRCm39) frame shift probably null
R1824:Lcat UTSW 8 106,666,520 (GRCm39) missense probably damaging 0.98
R1962:Lcat UTSW 8 106,668,355 (GRCm39) missense probably damaging 0.98
R2866:Lcat UTSW 8 106,666,511 (GRCm39) missense probably damaging 0.98
R4091:Lcat UTSW 8 106,666,538 (GRCm39) missense probably benign 0.09
R4172:Lcat UTSW 8 106,669,059 (GRCm39) missense possibly damaging 0.56
R4921:Lcat UTSW 8 106,669,074 (GRCm39) missense possibly damaging 0.92
R5487:Lcat UTSW 8 106,666,296 (GRCm39) missense probably benign
R6552:Lcat UTSW 8 106,666,311 (GRCm39) missense possibly damaging 0.58
R7096:Lcat UTSW 8 106,666,309 (GRCm39) missense possibly damaging 0.76
R7789:Lcat UTSW 8 106,668,857 (GRCm39) missense probably benign 0.00
R8338:Lcat UTSW 8 106,666,719 (GRCm39) missense probably damaging 1.00
R8773:Lcat UTSW 8 106,666,710 (GRCm39) missense possibly damaging 0.68
R8775:Lcat UTSW 8 106,669,023 (GRCm39) missense possibly damaging 0.52
R8775-TAIL:Lcat UTSW 8 106,669,023 (GRCm39) missense possibly damaging 0.52
R8814:Lcat UTSW 8 106,668,602 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16