Incidental Mutation 'R2866:Lcat'
| ID |
253258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcat
|
| Ensembl Gene |
ENSMUSG00000035237 |
| Gene Name |
lecithin cholesterol acyltransferase |
| Synonyms |
D8Wsu61e |
| MMRRC Submission |
040455-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.419)
|
| Stock # |
R2866 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106666183-106670014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106666511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 337
(C337Y)
|
| 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: C337Y
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237
AA Change: C337Y
| 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: ENSMUST00000212876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212595
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
| Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
| Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
| Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
| Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
| Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
| Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
| Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
| Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
| Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
| Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGGCAGCAAATGTACGG -3'
(R):5'- CTGTCCAACATAAAGCTGAAAGAGG -3'
Sequencing Primer
(F):5'- CAAATGTACGGGCTGCGACTG -3'
(R):5'- ACGACTTCCCCCTGGATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation