Incidental Mutation 'IGL02963:Lcat'
| ID |
365422 |
| 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 # |
IGL02963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106666183-106670014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106666588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| 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 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
| 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: ENSMUST00000212332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212686
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,603,503 (GRCm39) |
L565Q |
probably damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,922,489 (GRCm39) |
I348N |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,165,758 (GRCm39) |
S1005P |
possibly damaging |
Het |
| Ccn1 |
A |
G |
3: 145,353,630 (GRCm39) |
Y311H |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 104,861,823 (GRCm39) |
M1K |
probably null |
Het |
| Cfhr4 |
G |
A |
1: 139,659,334 (GRCm39) |
Q732* |
probably null |
Het |
| Cpsf3 |
T |
C |
12: 21,352,423 (GRCm39) |
S387P |
probably damaging |
Het |
| Cyp2j6 |
T |
C |
4: 96,406,421 (GRCm39) |
E450G |
probably damaging |
Het |
| Dusp13b |
T |
C |
14: 21,783,875 (GRCm39) |
T147A |
possibly damaging |
Het |
| Eif3c |
T |
C |
7: 126,155,992 (GRCm39) |
T493A |
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,917,762 (GRCm39) |
V564A |
possibly damaging |
Het |
| Gtf2ird1 |
T |
G |
5: 134,418,541 (GRCm39) |
E478D |
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,154 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,526 (GRCm39) |
T104A |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,296,105 (GRCm39) |
S567P |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 66,157,675 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,120,164 (GRCm39) |
H935R |
probably damaging |
Het |
| Manf |
A |
G |
9: 106,768,338 (GRCm39) |
S49P |
possibly damaging |
Het |
| Med25 |
T |
C |
7: 44,541,680 (GRCm39) |
K37E |
probably damaging |
Het |
| Ms4a4b |
T |
A |
19: 11,432,062 (GRCm39) |
I61K |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,001 (GRCm39) |
I3649T |
probably damaging |
Het |
| Myo18a |
T |
G |
11: 77,732,844 (GRCm39) |
|
probably benign |
Het |
| Ncoa4 |
T |
C |
14: 31,898,466 (GRCm39) |
C429R |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,745 (GRCm39) |
S190P |
probably benign |
Het |
| Pigk |
G |
T |
3: 152,472,098 (GRCm39) |
E337* |
probably null |
Het |
| Pigz |
A |
T |
16: 31,763,353 (GRCm39) |
Y137F |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,814,286 (GRCm39) |
L339P |
probably damaging |
Het |
| Rasa2 |
C |
A |
9: 96,452,838 (GRCm39) |
L349F |
probably damaging |
Het |
| Reep4 |
A |
G |
14: 70,785,410 (GRCm39) |
S186G |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,524,898 (GRCm39) |
K696R |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,347,389 (GRCm39) |
F8L |
probably damaging |
Het |
| Rprm |
T |
C |
2: 53,975,226 (GRCm39) |
T31A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,853,775 (GRCm39) |
L148Q |
possibly damaging |
Het |
| Sh2d6 |
C |
T |
6: 72,494,584 (GRCm39) |
V96I |
probably benign |
Het |
| Slc16a9 |
G |
T |
10: 70,102,966 (GRCm39) |
V81F |
probably damaging |
Het |
| Slc9a9 |
T |
A |
9: 94,902,767 (GRCm39) |
|
probably null |
Het |
| Sppl3 |
T |
A |
5: 115,199,662 (GRCm39) |
L22Q |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,947,326 (GRCm39) |
S1227P |
probably benign |
Het |
| Tbc1d1 |
T |
A |
5: 64,421,709 (GRCm39) |
V238E |
probably damaging |
Het |
| Tmco6 |
G |
A |
18: 36,871,798 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,133,205 (GRCm39) |
V287A |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,555,697 (GRCm39) |
|
probably null |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,975 (GRCm39) |
S14P |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,113 (GRCm39) |
T113A |
possibly damaging |
Het |
| Wnk4 |
A |
G |
11: 101,167,039 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,454,512 (GRCm39) |
T1431A |
unknown |
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 |
|
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation