Incidental Mutation 'IGL00423:Mboat1'
ID |
4326 |
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 # |
IGL00423
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
30320499-30430677 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 30379776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047311]
|
AlphaFold |
Q8BH98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047311
|
SMART Domains |
Protein: ENSMUSP00000045441 Gene: ENSMUSG00000038732
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
Other mutations in Mboat1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02070:Mboat1
|
APN |
13 |
30,408,380 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2012-04-20 |