Incidental Mutation 'R6552:Lcat'
ID |
521704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lcat
|
Ensembl Gene |
ENSMUSG00000035237 |
Gene Name |
lecithin cholesterol acyltransferase |
Synonyms |
D8Wsu61e |
MMRRC Submission |
044677-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R6552 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106666183-106670014 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106666311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 404
(M404V)
|
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: M404V
PolyPhen 2
Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000038232 Gene: ENSMUSG00000035237 AA Change: M404V
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: ENSMUST00000212686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212876
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang5 |
A |
T |
14: 44,200,254 (GRCm39) |
H106L |
probably benign |
Het |
Arsk |
A |
G |
13: 76,220,315 (GRCm39) |
Y260H |
probably damaging |
Het |
Atxn2l |
C |
T |
7: 126,092,993 (GRCm39) |
V833M |
possibly damaging |
Het |
Bpifa6 |
G |
A |
2: 153,829,078 (GRCm39) |
D202N |
probably damaging |
Het |
Ccdc103 |
A |
G |
11: 102,774,970 (GRCm39) |
S190G |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,576,112 (GRCm39) |
V2083I |
probably damaging |
Het |
Creb5 |
A |
G |
6: 53,662,369 (GRCm39) |
D222G |
probably damaging |
Het |
Cyp7a1 |
C |
T |
4: 6,272,361 (GRCm39) |
W284* |
probably null |
Het |
Dnmt3a |
T |
C |
12: 3,957,623 (GRCm39) |
V868A |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,729,339 (GRCm39) |
D680G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 34,012,032 (GRCm39) |
Y163H |
probably damaging |
Het |
Gabra1 |
A |
T |
11: 42,037,926 (GRCm39) |
S231T |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,343,299 (GRCm39) |
F42I |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,541,814 (GRCm39) |
S1187N |
probably benign |
Het |
Haspin |
A |
G |
11: 73,028,390 (GRCm39) |
V233A |
probably benign |
Het |
Il34 |
T |
A |
8: 111,469,059 (GRCm39) |
K187I |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,693,165 (GRCm39) |
H247R |
probably benign |
Het |
Klf5 |
T |
C |
14: 99,539,078 (GRCm39) |
S84P |
probably benign |
Het |
Lama5 |
G |
T |
2: 179,822,947 (GRCm39) |
P2773Q |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,431,692 (GRCm39) |
S1473T |
probably benign |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Mn1 |
T |
C |
5: 111,568,753 (GRCm39) |
S908P |
possibly damaging |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or2ag13 |
TGAAGCC |
T |
7: 106,313,850 (GRCm39) |
|
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,429,046 (GRCm39) |
M340L |
probably benign |
Het |
Pex1 |
G |
A |
5: 3,673,953 (GRCm39) |
E748K |
probably damaging |
Het |
Qrich1 |
T |
C |
9: 108,411,504 (GRCm39) |
V343A |
possibly damaging |
Het |
Rho |
A |
G |
6: 115,908,709 (GRCm39) |
|
probably null |
Het |
Sdhaf4 |
C |
A |
1: 24,044,687 (GRCm39) |
|
probably benign |
Het |
Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
Siae |
T |
C |
9: 37,557,696 (GRCm39) |
V501A |
possibly damaging |
Het |
Skint3 |
T |
C |
4: 112,147,482 (GRCm39) |
Y402H |
possibly damaging |
Het |
Skint6 |
A |
C |
4: 112,924,687 (GRCm39) |
V515G |
possibly damaging |
Het |
Slc23a1 |
C |
A |
18: 35,755,391 (GRCm39) |
G475C |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,690,167 (GRCm39) |
Y129C |
probably damaging |
Het |
Snw1 |
A |
G |
12: 87,506,189 (GRCm39) |
|
probably null |
Het |
Spice1 |
A |
G |
16: 44,199,396 (GRCm39) |
D616G |
possibly damaging |
Het |
Stam2 |
T |
C |
2: 52,598,239 (GRCm39) |
|
probably null |
Het |
Sumo3 |
G |
T |
10: 77,442,091 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
G |
12: 75,937,015 (GRCm39) |
N204K |
possibly damaging |
Het |
Tmem200a |
T |
C |
10: 25,869,381 (GRCm39) |
N296S |
probably damaging |
Het |
Ttbk1 |
G |
T |
17: 46,789,888 (GRCm39) |
T125N |
probably benign |
Het |
Ubr2 |
G |
T |
17: 47,277,194 (GRCm39) |
|
probably null |
Het |
Vmn1r80 |
C |
T |
7: 11,927,684 (GRCm39) |
L265F |
probably damaging |
Het |
Vwa8 |
A |
T |
14: 79,435,662 (GRCm39) |
T1791S |
possibly 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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCTAGTAGTGCCTTCCCC -3'
(R):5'- TCAGTCTCGTGACCTACTGG -3'
Sequencing Primer
(F):5'- AACCTAGTAGTGCCTTCCCCTTAAC -3'
(R):5'- CCGCACCTGGTGTAGAAGTATATTG -3'
|
Posted On |
2018-06-06 |