Incidental Mutation 'IGL00755:Mboat2'
| ID |
12723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mboat2
|
| Ensembl Gene |
ENSMUSG00000020646 |
| Gene Name |
membrane bound O-acyltransferase domain containing 2 |
| Synonyms |
Oact2, 2810049G06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24881401-25014399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25007645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 419
(V419E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078902]
[ENSMUST00000110942]
[ENSMUST00000221952]
[ENSMUST00000222994]
|
| AlphaFold |
Q8R3I2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078902
AA Change: V286E
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646
AA Change: V286E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
97 |
405 |
8.9e-35 |
PFAM |
|
transmembrane domain
|
410 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110942
AA Change: V419E
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
AA Change: V419E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBOAT
|
21 |
430 |
2.8e-32 |
PFAM |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221952
AA Change: V387E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222994
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,492,102 (GRCm39) |
Y4381C |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,423 (GRCm39) |
T991I |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,295,616 (GRCm39) |
N684S |
possibly damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,966 (GRCm39) |
T1106A |
probably damaging |
Het |
| Cplx4 |
T |
A |
18: 66,090,166 (GRCm39) |
|
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,189,417 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,028,873 (GRCm39) |
K26E |
probably benign |
Het |
| Fancl |
G |
A |
11: 26,420,916 (GRCm39) |
V349I |
probably benign |
Het |
| Gsg1l |
A |
G |
7: 125,522,598 (GRCm39) |
F210S |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,432,057 (GRCm39) |
V2327A |
possibly damaging |
Het |
| Ndnf |
C |
T |
6: 65,680,242 (GRCm39) |
P174S |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,447 (GRCm39) |
D228V |
probably damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,138 (GRCm39) |
I56N |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,265,378 (GRCm39) |
V438A |
probably damaging |
Het |
| Rmdn1 |
T |
A |
4: 19,580,401 (GRCm39) |
N42K |
probably benign |
Het |
| Sass6 |
G |
A |
3: 116,411,977 (GRCm39) |
E312K |
probably damaging |
Het |
| Scrn1 |
T |
A |
6: 54,497,694 (GRCm39) |
D299V |
possibly damaging |
Het |
| Slk |
T |
A |
19: 47,597,449 (GRCm39) |
C86S |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,162,431 (GRCm39) |
E76K |
probably damaging |
Het |
| Zfp282 |
C |
T |
6: 47,857,324 (GRCm39) |
P186S |
probably damaging |
Het |
|
| Other mutations in Mboat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Mboat2
|
APN |
12 |
24,989,353 (GRCm39) |
splice site |
probably benign |
|
|
IGL01691:Mboat2
|
APN |
12 |
25,004,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02824:Mboat2
|
APN |
12 |
24,996,585 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1052:Mboat2
|
UTSW |
12 |
24,996,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Mboat2
|
UTSW |
12 |
25,009,029 (GRCm39) |
missense |
probably benign |
|
|
R1998:Mboat2
|
UTSW |
12 |
24,996,672 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1999:Mboat2
|
UTSW |
12 |
24,996,672 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2069:Mboat2
|
UTSW |
12 |
25,001,442 (GRCm39) |
missense |
probably benign |
|
|
R2921:Mboat2
|
UTSW |
12 |
25,004,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2923:Mboat2
|
UTSW |
12 |
25,004,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Mboat2
|
UTSW |
12 |
24,932,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4300:Mboat2
|
UTSW |
12 |
25,009,082 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5133:Mboat2
|
UTSW |
12 |
25,009,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5356:Mboat2
|
UTSW |
12 |
25,007,572 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6084:Mboat2
|
UTSW |
12 |
24,928,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6184:Mboat2
|
UTSW |
12 |
25,001,430 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6194:Mboat2
|
UTSW |
12 |
24,996,637 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6281:Mboat2
|
UTSW |
12 |
25,007,678 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7026:Mboat2
|
UTSW |
12 |
24,998,381 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7269:Mboat2
|
UTSW |
12 |
24,881,708 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7638:Mboat2
|
UTSW |
12 |
24,989,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Mboat2
|
UTSW |
12 |
25,005,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Mboat2
|
UTSW |
12 |
24,984,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8883:Mboat2
|
UTSW |
12 |
25,009,033 (GRCm39) |
missense |
|
|
|
Z1176:Mboat2
|
UTSW |
12 |
24,998,343 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2012-12-06 |
Incidental Mutation