Incidental Mutation 'IGL02070:Mboat1'
| ID |
185783 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mboat1
|
| Ensembl Gene |
ENSMUSG00000038732 |
| Gene Name |
membrane bound O-acyltransferase domain containing 1 |
| Synonyms |
9130215M02Rik, Oact1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
30320499-30430677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30408380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 181
(L181P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047311]
|
| AlphaFold |
Q8BH98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047311
AA Change: L181P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: L181P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBOAT
|
36 |
438 |
4.8e-29 |
PFAM |
|
transmembrane domain
|
455 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152798
|
| SMART Domains |
Protein: ENSMUSP00000121195
Gene: ENSMUSG00000038732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBOAT
|
9 |
209 |
1.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220870
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,343,336 (GRCm39) |
Y204H |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,316,293 (GRCm39) |
T583K |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,628,385 (GRCm39) |
Q2948K |
possibly damaging |
Het |
| Auts2 |
C |
T |
5: 131,499,259 (GRCm39) |
R327Q |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,235,530 (GRCm39) |
E988A |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,398,700 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
C |
3: 104,918,582 (GRCm39) |
V86G |
probably damaging |
Het |
| Cyb5r2 |
G |
A |
7: 107,350,394 (GRCm39) |
T213I |
probably damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,903 (GRCm39) |
H150R |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,671,846 (GRCm39) |
C116R |
probably damaging |
Het |
| Gabrr2 |
G |
T |
4: 33,095,340 (GRCm39) |
E385* |
probably null |
Het |
| Hyal5 |
T |
A |
6: 24,876,961 (GRCm39) |
V278D |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,986 (GRCm39) |
Y368H |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,833,496 (GRCm39) |
V365A |
probably damaging |
Het |
| Nexmif |
G |
T |
X: 103,126,817 (GRCm39) |
H1509Q |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,804 (GRCm39) |
S24L |
probably damaging |
Het |
| Optc |
T |
A |
1: 133,828,914 (GRCm39) |
I178F |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,346 (GRCm39) |
I90N |
probably damaging |
Het |
| Or56a42-ps1 |
G |
T |
7: 104,776,254 (GRCm39) |
L85I |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,700 (GRCm39) |
N1535K |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,597 (GRCm39) |
N464I |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,416,406 (GRCm39) |
V1681I |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,104 (GRCm39) |
E566G |
probably damaging |
Het |
| Pknox1 |
T |
A |
17: 31,822,339 (GRCm39) |
|
probably benign |
Het |
| Ppa2 |
T |
C |
3: 133,083,623 (GRCm39) |
F327S |
probably damaging |
Het |
| Rab39b |
G |
T |
X: 74,618,309 (GRCm39) |
L174M |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,526 (GRCm39) |
Y48* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1a |
T |
A |
10: 61,520,673 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,095 (GRCm39) |
D740V |
probably damaging |
Het |
| Sema3f |
G |
A |
9: 107,569,440 (GRCm39) |
T128I |
probably damaging |
Het |
| Snx1 |
A |
T |
9: 66,005,731 (GRCm39) |
S129R |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,652,313 (GRCm39) |
K1641N |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,095,979 (GRCm39) |
E305G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar7d |
A |
T |
10: 23,904,152 (GRCm39) |
I345F |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,779 (GRCm39) |
L258P |
probably damaging |
Het |
| Trav9-4 |
A |
T |
14: 53,913,817 (GRCm39) |
T24S |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,657,739 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,646 (GRCm39) |
T207S |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,311 (GRCm39) |
S447G |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,707,644 (GRCm39) |
L234P |
probably damaging |
Het |
|
| Other mutations in Mboat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Mboat1
|
APN |
13 |
30,379,776 (GRCm39) |
splice site |
probably benign |
|
|
IGL01331:Mboat1
|
APN |
13 |
30,403,684 (GRCm39) |
splice site |
probably benign |
|
|
IGL01837:Mboat1
|
APN |
13 |
30,425,166 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03338:Mboat1
|
APN |
13 |
30,320,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
langsat
|
UTSW |
13 |
30,386,358 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0201:Mboat1
|
UTSW |
13 |
30,386,358 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0322:Mboat1
|
UTSW |
13 |
30,416,063 (GRCm39) |
splice site |
probably benign |
|
|
R0448:Mboat1
|
UTSW |
13 |
30,386,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Mboat1
|
UTSW |
13 |
30,403,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2040:Mboat1
|
UTSW |
13 |
30,425,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3054:Mboat1
|
UTSW |
13 |
30,379,724 (GRCm39) |
missense |
probably benign |
|
|
R3122:Mboat1
|
UTSW |
13 |
30,422,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Mboat1
|
UTSW |
13 |
30,425,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Mboat1
|
UTSW |
13 |
30,408,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Mboat1
|
UTSW |
13 |
30,386,343 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5429:Mboat1
|
UTSW |
13 |
30,403,650 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5862:Mboat1
|
UTSW |
13 |
30,419,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Mboat1
|
UTSW |
13 |
30,408,509 (GRCm39) |
missense |
probably benign |
|
|
R6352:Mboat1
|
UTSW |
13 |
30,386,403 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6956:Mboat1
|
UTSW |
13 |
30,422,059 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7088:Mboat1
|
UTSW |
13 |
30,379,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7165:Mboat1
|
UTSW |
13 |
30,408,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Mboat1
|
UTSW |
13 |
30,386,345 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7727:Mboat1
|
UTSW |
13 |
30,410,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7938:Mboat1
|
UTSW |
13 |
30,415,959 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8239:Mboat1
|
UTSW |
13 |
30,429,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Mboat1
|
UTSW |
13 |
30,410,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Mboat1
|
UTSW |
13 |
30,410,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mboat1
|
UTSW |
13 |
30,410,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation