Incidental Mutation 'IGL00719:Mboat2'
| ID |
11916 |
| 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 # |
IGL00719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24881401-25014399 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 24989353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078902]
[ENSMUST00000110942]
[ENSMUST00000221952]
[ENSMUST00000222198]
[ENSMUST00000222994]
|
| AlphaFold |
Q8R3I2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078902
|
| SMART Domains |
Protein: ENSMUSP00000077937
Gene: ENSMUSG00000020646
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106567
Gene: ENSMUSG00000020646
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222994
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
C |
T |
12: 28,614,248 (GRCm39) |
E142K |
probably benign |
Het |
| Cln5 |
C |
T |
14: 103,313,468 (GRCm39) |
T240M |
possibly damaging |
Het |
| Ddx42 |
T |
C |
11: 106,126,575 (GRCm39) |
V330A |
probably damaging |
Het |
| Egr1 |
G |
A |
18: 34,995,547 (GRCm39) |
E110K |
possibly damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,876,616 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,141,005 (GRCm39) |
D674G |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,777,934 (GRCm39) |
Y1826* |
probably null |
Het |
| Mipol1 |
T |
A |
12: 57,354,139 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
C |
A |
5: 150,646,007 (GRCm39) |
T155N |
probably benign |
Het |
| Plk4 |
A |
T |
3: 40,756,224 (GRCm39) |
D45V |
probably damaging |
Het |
| Rnf24 |
C |
T |
2: 131,147,613 (GRCm39) |
V63I |
possibly damaging |
Het |
| Serpinb6b |
A |
T |
13: 33,155,529 (GRCm39) |
T81S |
probably benign |
Het |
| Sesn1 |
C |
T |
10: 41,774,321 (GRCm39) |
T291I |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,732,077 (GRCm39) |
T1276A |
probably benign |
Het |
| Tmbim7 |
T |
A |
5: 3,729,087 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,394,716 (GRCm39) |
T556A |
probably benign |
Het |
|
| Other mutations in Mboat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00755:Mboat2
|
APN |
12 |
25,007,645 (GRCm39) |
missense |
probably benign |
0.20 |
|
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