Incidental Mutation 'IGL01691:Mboat2'
| ID |
104113 |
| 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 # |
IGL01691
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24881401-25014399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25004221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 341
(N341D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078902]
[ENSMUST00000110942]
[ENSMUST00000221952]
[ENSMUST00000222994]
|
| AlphaFold |
Q8R3I2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078902
AA Change: N208D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646
AA Change: N208D
| 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 damaging
Transcript: ENSMUST00000110942
AA Change: N341D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
AA Change: N341D
| 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: N309D
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222994
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
T |
A |
3: 32,774,349 (GRCm39) |
M282K |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,142,742 (GRCm39) |
N831S |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,556 (GRCm39) |
R200Q |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,567,271 (GRCm39) |
I531V |
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,117 (GRCm39) |
D223E |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,250,761 (GRCm39) |
E161V |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,060,928 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,161,185 (GRCm39) |
F94S |
probably damaging |
Het |
| Cwf19l1 |
C |
T |
19: 44,109,311 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,430,269 (GRCm39) |
N96K |
probably benign |
Het |
| Ephb6 |
G |
A |
6: 41,591,449 (GRCm39) |
R202H |
probably benign |
Het |
| Gm43191 |
T |
A |
3: 116,471,616 (GRCm39) |
I218L |
probably benign |
Het |
| Gm7168 |
G |
A |
17: 14,169,140 (GRCm39) |
S169N |
probably damaging |
Het |
| Gm7964 |
T |
C |
7: 83,405,344 (GRCm39) |
|
noncoding transcript |
Het |
| Kif20b |
T |
C |
19: 34,913,143 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,702,089 (GRCm39) |
T906A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,907 (GRCm39) |
V554A |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,815,634 (GRCm39) |
T384A |
possibly damaging |
Het |
| Or1af1 |
G |
T |
2: 37,110,038 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g18 |
G |
A |
9: 39,149,315 (GRCm39) |
T135I |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,732,906 (GRCm39) |
H312Q |
probably benign |
Het |
| Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 4,987,145 (GRCm39) |
T124A |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,313,143 (GRCm39) |
S58G |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,036,485 (GRCm39) |
M1012V |
probably null |
Het |
| Usp48 |
A |
T |
4: 137,350,583 (GRCm39) |
|
probably null |
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 |
|
|
IGL00755:Mboat2
|
APN |
12 |
25,007,645 (GRCm39) |
missense |
probably benign |
0.20 |
|
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 |
2014-01-21 |
Incidental Mutation