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)
|
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
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 |
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |