Incidental Mutation 'IGL02494:Lcat'
ID |
295802 |
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)
|
Stock # |
IGL02494
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106666183-106670014 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 106668571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112130
(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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000038896
|
SMART Domains |
Protein: ENSMUSP00000038232 Gene: ENSMUSG00000035237
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: ENSMUST00000141326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212332
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldob |
C |
T |
4: 49,541,138 (GRCm39) |
C178Y |
possibly damaging |
Het |
Arg2 |
A |
G |
12: 79,198,697 (GRCm39) |
R242G |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,973,525 (GRCm39) |
L2528* |
probably null |
Het |
Astn2 |
T |
A |
4: 65,910,585 (GRCm39) |
M468L |
probably benign |
Het |
Bglap2 |
A |
T |
3: 88,285,243 (GRCm39) |
C74* |
probably null |
Het |
Cand1 |
A |
G |
10: 119,049,522 (GRCm39) |
V408A |
probably benign |
Het |
Ccdc14 |
A |
G |
16: 34,543,784 (GRCm39) |
Y714C |
probably damaging |
Het |
Ccdc88c |
C |
T |
12: 100,911,734 (GRCm39) |
G707D |
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,913,710 (GRCm39) |
R890* |
probably null |
Het |
Cep192 |
A |
G |
18: 67,937,453 (GRCm39) |
E61G |
probably benign |
Het |
Ctdspl |
T |
C |
9: 118,866,484 (GRCm39) |
L181P |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,471 (GRCm39) |
V442M |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,408,871 (GRCm39) |
V1860A |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fscn2 |
G |
A |
11: 120,253,228 (GRCm39) |
V232M |
probably benign |
Het |
Gemin5 |
A |
T |
11: 58,012,583 (GRCm39) |
C1458S |
probably benign |
Het |
Glrb |
A |
G |
3: 80,752,539 (GRCm39) |
V408A |
probably benign |
Het |
Gtse1 |
C |
T |
15: 85,751,704 (GRCm39) |
P299L |
probably damaging |
Het |
Hcfc1r1 |
T |
A |
17: 23,893,559 (GRCm39) |
M46K |
probably damaging |
Het |
Hdc |
A |
G |
2: 126,436,041 (GRCm39) |
F610S |
probably benign |
Het |
Hip1 |
A |
T |
5: 135,473,645 (GRCm39) |
C224* |
probably null |
Het |
Hsd17b10 |
G |
T |
X: 150,787,230 (GRCm39) |
A241S |
probably benign |
Het |
Igsf10 |
G |
T |
3: 59,235,427 (GRCm39) |
Q1585K |
probably damaging |
Het |
Kat2b |
T |
C |
17: 53,960,233 (GRCm39) |
Y514H |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,862,486 (GRCm39) |
I58M |
probably benign |
Het |
Naca |
G |
A |
10: 127,877,179 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,712,772 (GRCm39) |
K2102E |
probably benign |
Het |
Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
Or1e35 |
A |
C |
11: 73,797,550 (GRCm39) |
I256S |
possibly damaging |
Het |
Or4b1b |
G |
A |
2: 90,112,295 (GRCm39) |
S208F |
probably benign |
Het |
Or4n4 |
A |
T |
14: 50,519,683 (GRCm39) |
V9D |
probably damaging |
Het |
Or7c19 |
C |
A |
8: 85,957,312 (GRCm39) |
L63I |
possibly damaging |
Het |
Patj |
T |
A |
4: 98,592,224 (GRCm39) |
|
probably benign |
Het |
Pcdhb17 |
G |
A |
18: 37,618,347 (GRCm39) |
A46T |
possibly damaging |
Het |
Phf8 |
T |
C |
X: 150,408,227 (GRCm39) |
V859A |
probably benign |
Het |
Plec |
T |
A |
15: 76,060,979 (GRCm39) |
E3054V |
probably damaging |
Het |
Prr12 |
C |
A |
7: 44,678,270 (GRCm39) |
K1958N |
unknown |
Het |
Psmf1 |
A |
G |
2: 151,582,929 (GRCm39) |
|
probably null |
Het |
Rsu1 |
T |
C |
2: 13,222,002 (GRCm39) |
|
probably null |
Het |
Samm50 |
T |
C |
15: 84,080,015 (GRCm39) |
V31A |
probably benign |
Het |
St14 |
A |
G |
9: 31,019,941 (GRCm39) |
V56A |
possibly damaging |
Het |
Trpc1 |
T |
C |
9: 95,590,360 (GRCm39) |
N699S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,574,144 (GRCm39) |
M25583K |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,585,798 (GRCm39) |
V993A |
probably benign |
Het |
|
Other mutations in Lcat |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02654:Lcat
|
APN |
8 |
106,666,401 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |