Incidental Mutation 'R4181:Lpcat3'
| ID |
319735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpcat3
|
| Ensembl Gene |
ENSMUSG00000004270 |
| Gene Name |
lysophosphatidylcholine acyltransferase 3 |
| Synonyms |
Oact5, Mboat5, Grcc3f |
| MMRRC Submission |
041017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124639887-124681142 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 124680187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004379]
[ENSMUST00000004381]
[ENSMUST00000128721]
[ENSMUST00000203238]
|
| 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 benign
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: ENSMUST00000150597
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203238
|
| SMART Domains |
Protein: ENSMUSP00000144730
Gene: ENSMUSG00000004268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EMG1
|
55 |
122 |
1e-33 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
92% (48/52) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,854,714 (GRCm39) |
K284R |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,843,707 (GRCm39) |
T185A |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,412 (GRCm39) |
D1066N |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Cmpk2 |
T |
C |
12: 26,527,046 (GRCm39) |
V345A |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,486 (GRCm39) |
|
probably null |
Het |
| Cyp7a1 |
C |
T |
4: 6,271,205 (GRCm39) |
G317E |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Drc1 |
T |
C |
5: 30,513,057 (GRCm39) |
V377A |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,404 (GRCm39) |
N326D |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,142,197 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Gtpbp3 |
C |
T |
8: 71,944,111 (GRCm39) |
T285I |
probably damaging |
Het |
| Hnrnpul1 |
T |
C |
7: 25,426,237 (GRCm39) |
D538G |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,991 (GRCm39) |
S582N |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,535,437 (GRCm39) |
V107A |
possibly damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,806,601 (GRCm39) |
L270Q |
possibly damaging |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 40,501,446 (GRCm39) |
T219I |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or7g30 |
C |
T |
9: 19,353,031 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,581 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,593,958 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rorc |
G |
A |
3: 94,294,500 (GRCm39) |
C33Y |
probably damaging |
Het |
| Ssc4d |
T |
C |
5: 135,990,778 (GRCm39) |
E470G |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,928,428 (GRCm39) |
V2614G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,959 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
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 |
|
R3757:Lpcat3
|
UTSW |
6 |
124,676,955 (GRCm39) |
splice site |
probably null |
|
|
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'- AGCTCTCACAAGGTCTCTCC -3'
(R):5'- TTGTCCCTTGCTACTTGAGG -3'
Sequencing Primer
(F):5'- AGGTCTCTCCTTGCTGTTCTTGG -3'
(R):5'- GAGGTTTTAGTGACACCCCCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation