Incidental Mutation 'IGL03103:Lpcat2b'
| ID |
418827 |
| 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 # |
IGL03103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107579415-107582905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107581414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 248
(N248Y)
|
| 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: N248Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794
AA Change: N248Y
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc27 |
A |
T |
11: 104,403,806 (GRCm39) |
F652Y |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,972,817 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
A |
G |
7: 87,959,013 (GRCm39) |
N431S |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,430,479 (GRCm39) |
M235T |
probably damaging |
Het |
| Dgkg |
G |
A |
16: 22,399,275 (GRCm39) |
P220S |
probably damaging |
Het |
| Gpr180 |
A |
T |
14: 118,377,175 (GRCm39) |
I59F |
possibly damaging |
Het |
| Haspin |
A |
T |
11: 73,027,526 (GRCm39) |
V521D |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,144 (GRCm39) |
T622A |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,704,408 (GRCm39) |
T57N |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,440,014 (GRCm39) |
F422S |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,772,507 (GRCm39) |
V163A |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,592,316 (GRCm39) |
|
probably null |
Het |
| Mon2 |
T |
A |
10: 122,866,008 (GRCm39) |
|
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,488,008 (GRCm39) |
S374G |
possibly damaging |
Het |
| Nr1h3 |
T |
A |
2: 91,022,360 (GRCm39) |
K89N |
probably damaging |
Het |
| Or4c29 |
A |
T |
2: 88,740,522 (GRCm39) |
S72T |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,017,785 (GRCm39) |
D75G |
probably damaging |
Het |
| Or8b49 |
A |
G |
9: 38,505,823 (GRCm39) |
Y102C |
probably damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,601 (GRCm39) |
P445L |
possibly damaging |
Het |
| Pstpip1 |
G |
T |
9: 56,021,592 (GRCm39) |
V39L |
possibly damaging |
Het |
| Sbf1 |
A |
T |
15: 89,178,150 (GRCm39) |
L1560Q |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 66,946,568 (GRCm39) |
Q114* |
probably null |
Het |
| Slc29a4 |
A |
G |
5: 142,697,835 (GRCm39) |
H96R |
probably damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,373 (GRCm39) |
L778P |
probably benign |
Het |
| Tas2r110 |
A |
G |
6: 132,845,443 (GRCm39) |
Q158R |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,300,524 (GRCm39) |
I92V |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,579,266 (GRCm39) |
M15549L |
possibly damaging |
Het |
| Urb2 |
T |
G |
8: 124,756,491 (GRCm39) |
S733A |
probably benign |
Het |
| Vcl |
T |
C |
14: 21,074,348 (GRCm39) |
W912R |
probably damaging |
Het |
|
| Other mutations in Lpcat2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Lpcat2b
|
APN |
5 |
107,581,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation