Incidental Mutation 'R3757:Lpcat3'
| ID |
271478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpcat3
|
| Ensembl Gene |
ENSMUSG00000004270 |
| Gene Name |
lysophosphatidylcholine acyltransferase 3 |
| Synonyms |
Oact5, Mboat5, Grcc3f |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R3757 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124639887-124681142 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 124676955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004379]
[ENSMUST00000004381]
[ENSMUST00000128721]
|
| AlphaFold |
Q91V01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004379
|
| SMART Domains |
Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EMG1
|
45 |
238 |
2.9e-87 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000004381
|
| SMART Domains |
Protein: ENSMUSP00000004381
Gene: ENSMUSG00000004270
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
126 |
437 |
1.2e-81 |
PFAM |
|
transmembrane domain
|
454 |
473 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128721
|
| SMART Domains |
Protein: ENSMUSP00000144738
Gene: ENSMUSG00000004270
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135516
|
| SMART Domains |
Protein: ENSMUSP00000122436
Gene: ENSMUSG00000004270
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150597
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
92% (35/38) |
| MGI Phenotype |
PHENOTYPE: Nullizygous mice show low blood glucose levels and postnatal death. Intestine-specific knockouts fail to thrive and show enterocyte lipid accumulation and low plasma triglycerides (TGs). Liver-specific knockouts show low plasma TGs, fatty liver, and secrete VLDL lacking arachidonoyl phospholipids. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
| Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
| Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
| Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
| Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
| Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
| Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
| H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
| Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
| Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
| Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
| Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
| Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
| Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
| Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
| Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
| Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
| Other mutations in Lpcat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Lpcat3
|
APN |
6 |
124,676,301 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02279:Lpcat3
|
APN |
6 |
124,675,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Lpcat3
|
APN |
6 |
124,679,970 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0045:Lpcat3
|
UTSW |
6 |
124,678,437 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0045:Lpcat3
|
UTSW |
6 |
124,678,437 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2075:Lpcat3
|
UTSW |
6 |
124,680,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4181:Lpcat3
|
UTSW |
6 |
124,680,187 (GRCm39) |
unclassified |
probably benign |
|
|
R4583:Lpcat3
|
UTSW |
6 |
124,680,286 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5134:Lpcat3
|
UTSW |
6 |
124,679,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5159:Lpcat3
|
UTSW |
6 |
124,676,357 (GRCm39) |
intron |
probably benign |
|
|
R6703:Lpcat3
|
UTSW |
6 |
124,640,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6833:Lpcat3
|
UTSW |
6 |
124,676,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Lpcat3
|
UTSW |
6 |
124,675,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7604:Lpcat3
|
UTSW |
6 |
124,679,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9399:Lpcat3
|
UTSW |
6 |
124,640,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9620:Lpcat3
|
UTSW |
6 |
124,680,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9756:Lpcat3
|
UTSW |
6 |
124,679,967 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0017:Lpcat3
|
UTSW |
6 |
124,675,081 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAACGCCCCTGTTTGTAG -3'
(R):5'- TGGAGCATGACATCAGTATGG -3'
Sequencing Primer
(F):5'- CTCTCAAGTGCCAGGATTCTAGG -3'
(R):5'- ACATCAGTATGGTTTATTTTGGCTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation