Incidental Mutation 'R5487:Lcat'
| ID |
430418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcat
|
| Ensembl Gene |
ENSMUSG00000035237 |
| Gene Name |
lecithin cholesterol acyltransferase |
| Synonyms |
D8Wsu61e |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106666183-106670014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106666296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 409
(K409E)
|
| 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 benign
Transcript: ENSMUST00000038896
AA Change: K409E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237
AA Change: K409E
| 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: ENSMUST00000212686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212876
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATGCATCAGCCAGGTG -3'
(R):5'- AGTCTCGTGACCTACTGGAG -3'
Sequencing Primer
(F):5'- ATCAGCCAGGTGATGCAGGTTATC -3'
(R):5'- CCGCACCTGGTGTAGAAGTATATTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation