Incidental Mutation 'IGL00566:Lpcat2b'
| ID |
11798 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpcat2b
|
| Ensembl Gene |
ENSMUSG00000033794 |
| Gene Name |
lysophosphatidylcholine acyltransferase 2B |
| Synonyms |
4921521K07Rik, Aytl1b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107579415-107582905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107581670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 333
(L333Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049146]
[ENSMUST00000094541]
[ENSMUST00000162298]
[ENSMUST00000166599]
[ENSMUST00000211896]
|
| AlphaFold |
Q9D5U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049146
|
| SMART Domains |
Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
88 |
203 |
2.4e-11 |
PFAM |
|
Pfam:Abhydrolase_1
|
92 |
341 |
6.6e-27 |
PFAM |
|
Pfam:Abhydrolase_5
|
93 |
335 |
5.7e-15 |
PFAM |
|
Pfam:Abhydrolase_6
|
94 |
346 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094541
|
| SMART Domains |
Protein: ENSMUSP00000092119
Gene: ENSMUSG00000111375
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
58 |
158 |
2.15e0 |
SMART |
|
BTB
|
205 |
303 |
1.55e-21 |
SMART |
|
Blast:BTB
|
341 |
372 |
6e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162298
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166599
AA Change: L333Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794
AA Change: L333Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
122 |
N/A |
INTRINSIC |
|
PlsC
|
136 |
247 |
5.65e-14 |
SMART |
|
Blast:PlsC
|
280 |
322 |
3e-10 |
BLAST |
|
EFh
|
391 |
419 |
9.48e-3 |
SMART |
|
EFh
|
428 |
456 |
6.6e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212858
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,815 (GRCm39) |
T173A |
possibly damaging |
Het |
| Acaa2 |
G |
A |
18: 74,926,449 (GRCm39) |
G135E |
probably damaging |
Het |
| Actr2 |
C |
A |
11: 20,022,487 (GRCm39) |
R328L |
possibly damaging |
Het |
| Adam1b |
T |
C |
5: 121,639,056 (GRCm39) |
D663G |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,379,483 (GRCm39) |
E915V |
probably benign |
Het |
| Antxr2 |
G |
A |
5: 98,034,466 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,398,972 (GRCm39) |
|
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,766,410 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,240,307 (GRCm39) |
R248K |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,712 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ice2 |
T |
C |
9: 69,323,395 (GRCm39) |
V630A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,174 (GRCm39) |
V179D |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,962,653 (GRCm39) |
E15A |
probably damaging |
Het |
| Kifbp |
G |
T |
10: 62,395,118 (GRCm39) |
S508* |
probably null |
Het |
| Lrguk |
A |
C |
6: 34,033,109 (GRCm39) |
L258F |
probably damaging |
Het |
| M6pr |
A |
T |
6: 122,290,337 (GRCm39) |
K100M |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,798,657 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,705,317 (GRCm39) |
V661A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,837,098 (GRCm39) |
H2815Q |
probably benign |
Het |
|
| Other mutations in Lpcat2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01620:Lpcat2b
|
APN |
5 |
107,581,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Lpcat2b
|
APN |
5 |
107,581,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03103:Lpcat2b
|
APN |
5 |
107,581,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Lpcat2b
|
UTSW |
5 |
107,581,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Lpcat2b
|
UTSW |
5 |
107,582,084 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1259:Lpcat2b
|
UTSW |
5 |
107,581,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1508:Lpcat2b
|
UTSW |
5 |
107,581,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1976:Lpcat2b
|
UTSW |
5 |
107,581,716 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2352:Lpcat2b
|
UTSW |
5 |
107,581,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Lpcat2b
|
UTSW |
5 |
107,581,865 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5187:Lpcat2b
|
UTSW |
5 |
107,582,001 (GRCm39) |
nonsense |
probably null |
|
|
R5696:Lpcat2b
|
UTSW |
5 |
107,580,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Lpcat2b
|
UTSW |
5 |
107,581,760 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6199:Lpcat2b
|
UTSW |
5 |
107,581,171 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7316:Lpcat2b
|
UTSW |
5 |
107,580,979 (GRCm39) |
missense |
not run |
|
|
R8850:Lpcat2b
|
UTSW |
5 |
107,580,692 (GRCm39) |
missense |
probably benign |
|
|
R8928:Lpcat2b
|
UTSW |
5 |
107,580,913 (GRCm39) |
missense |
probably benign |
|
|
R9764:Lpcat2b
|
UTSW |
5 |
107,581,438 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1088:Lpcat2b
|
UTSW |
5 |
107,581,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation