Incidental Mutation 'IGL02963:Lcat'
ID365422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcat
Ensembl Gene ENSMUSG00000035237
Gene Namelecithin cholesterol acyltransferase
SynonymsD8Wsu61e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL02963
Quality Score
Status
Chromosome8
Chromosomal Location105939551-105943382 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105939956 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 311 (F311L)
Ref Sequence ENSEMBL: ENSMUSP00000038232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034369] [ENSMUST00000034370] [ENSMUST00000038896] [ENSMUST00000116429]
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 probably damaging
Transcript: ENSMUST00000038896
AA Change: F311L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237
AA Change: F311L

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: ENSMUST00000212332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212938
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,384,529 L565Q probably damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Arhgap44 A T 11: 65,031,663 I348N probably damaging Het
Bahcc1 T C 11: 120,274,932 S1005P possibly damaging Het
Cdh20 T A 1: 104,934,098 M1K probably null Het
Cpsf3 T C 12: 21,302,422 S387P probably damaging Het
Cyp2j6 T C 4: 96,518,184 E450G probably damaging Het
Cyr61 A G 3: 145,647,875 Y311H probably damaging Het
Dusp13 T C 14: 21,733,807 T147A possibly damaging Het
Eif3c T C 7: 126,556,820 T493A probably benign Het
Ell2 T C 13: 75,769,643 V564A possibly damaging Het
Gm4788 G A 1: 139,731,596 Q732* probably null Het
Gtf2ird1 T G 5: 134,389,687 E478D probably benign Het
Gys2 A T 6: 142,449,428 probably null Het
H2-T3 T C 17: 36,189,634 T104A probably damaging Het
Herc1 T C 9: 66,388,823 S567P probably damaging Het
Kcnq3 A T 15: 66,285,826 probably benign Het
Kdm7a T C 6: 39,143,230 H935R probably damaging Het
Manf A G 9: 106,891,139 S49P possibly damaging Het
Med25 T C 7: 44,892,256 K37E probably damaging Het
Ms4a4b T A 19: 11,454,698 I61K probably damaging Het
Muc5b T C 7: 141,864,264 I3649T probably damaging Het
Myo18a T G 11: 77,842,018 probably benign Het
Ncoa4 T C 14: 32,176,509 C429R probably damaging Het
Olfr113 A G 17: 37,574,854 S190P probably benign Het
Pigk G T 3: 152,766,461 E337* probably null Het
Pigz A T 16: 31,944,535 Y137F probably damaging Het
Ppp1r12b A G 1: 134,886,548 L339P probably damaging Het
Rasa2 C A 9: 96,570,785 L349F probably damaging Het
Reep4 A G 14: 70,547,970 S186G possibly damaging Het
Rfx7 A G 9: 72,617,616 K696R probably benign Het
Rnf220 A G 4: 117,490,192 F8L probably damaging Het
Rprm T C 2: 54,085,214 T31A probably benign Het
Sez6 T A 11: 77,962,949 L148Q possibly damaging Het
Sh2d6 C T 6: 72,517,601 V96I probably benign Het
Slc16a9 G T 10: 70,267,136 V81F probably damaging Het
Slc9a9 T A 9: 95,020,714 probably null Het
Sppl3 T A 5: 115,061,603 L22Q probably damaging Het
Ssc5d T C 7: 4,944,327 S1227P probably benign Het
Tbc1d1 T A 5: 64,264,366 V238E probably damaging Het
Tmco6 G A 18: 36,738,745 probably null Het
Tyr A G 7: 87,483,997 V287A probably benign Het
Uvrag A T 7: 98,906,490 probably null Het
Vmn1r167 A G 7: 23,505,550 S14P possibly damaging Het
Vmn1r171 A G 7: 23,632,688 T113A possibly damaging Het
Wnk4 A G 11: 101,276,213 probably benign Het
Zan T C 5: 137,456,250 T1431A unknown Het
Other mutations in Lcat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Lcat APN 8 105941939 unclassified probably benign
IGL02654:Lcat APN 8 105939769 missense possibly damaging 0.68
IGL02678:Lcat APN 8 105941940 splice site probably null
IGL03304:Lcat APN 8 105940063 missense possibly damaging 0.94
R1754:Lcat UTSW 8 105941814 frame shift probably null
R1757:Lcat UTSW 8 105941814 frame shift probably null
R1824:Lcat UTSW 8 105939888 missense probably damaging 0.98
R1962:Lcat UTSW 8 105941723 missense probably damaging 0.98
R2866:Lcat UTSW 8 105939879 missense probably damaging 0.98
R4091:Lcat UTSW 8 105939906 missense probably benign 0.09
R4172:Lcat UTSW 8 105942427 missense possibly damaging 0.56
R4921:Lcat UTSW 8 105942442 missense possibly damaging 0.92
R5487:Lcat UTSW 8 105939664 missense probably benign
R6552:Lcat UTSW 8 105939679 missense possibly damaging 0.58
R7096:Lcat UTSW 8 105939677 missense possibly damaging 0.76
R7789:Lcat UTSW 8 105942225 missense probably benign 0.00
Posted On2015-12-18