Incidental Mutation 'IGL01331:Mboat1'
ID |
74530 |
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 # |
IGL01331
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
30320499-30430677 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 30403684 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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca3a1 |
G |
A |
3: 144,453,273 (GRCm39) |
T517M |
probably damaging |
Het |
Clec4g |
T |
C |
8: 3,767,190 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
C |
T |
13: 93,233,454 (GRCm39) |
E545K |
possibly damaging |
Het |
Cntn6 |
A |
T |
6: 104,751,484 (GRCm39) |
D380V |
probably damaging |
Het |
Col9a2 |
C |
T |
4: 120,902,389 (GRCm39) |
P209S |
possibly damaging |
Het |
Cyp2b9 |
T |
C |
7: 25,887,140 (GRCm39) |
V183A |
probably damaging |
Het |
Dpt |
T |
C |
1: 164,624,379 (GRCm39) |
Y27H |
unknown |
Het |
Dusp16 |
T |
C |
6: 134,695,067 (GRCm39) |
Q588R |
possibly damaging |
Het |
Emg1 |
A |
G |
6: 124,682,033 (GRCm39) |
S164P |
probably benign |
Het |
Foxk1 |
G |
A |
5: 142,439,344 (GRCm39) |
R428Q |
probably damaging |
Het |
Frmd4a |
T |
A |
2: 4,607,036 (GRCm39) |
M667K |
probably benign |
Het |
Gpr55 |
T |
A |
1: 85,868,915 (GRCm39) |
|
probably benign |
Het |
Gtpbp8 |
A |
G |
16: 44,560,494 (GRCm39) |
I162T |
probably benign |
Het |
Ighv1-59 |
C |
T |
12: 115,298,992 (GRCm39) |
V21I |
possibly damaging |
Het |
Ipo11 |
T |
A |
13: 106,932,254 (GRCm39) |
Y938F |
possibly damaging |
Het |
Map4 |
G |
T |
9: 109,863,869 (GRCm39) |
V365L |
probably benign |
Het |
Med12 |
A |
G |
X: 100,324,360 (GRCm39) |
E649G |
possibly damaging |
Het |
Nfkbie |
T |
C |
17: 45,869,495 (GRCm39) |
V150A |
probably benign |
Het |
Or51ai2 |
A |
G |
7: 103,586,782 (GRCm39) |
Y65C |
possibly damaging |
Het |
Or8k22 |
A |
C |
2: 86,163,048 (GRCm39) |
Y217* |
probably null |
Het |
Prdm1 |
T |
A |
10: 44,317,970 (GRCm39) |
K299N |
possibly damaging |
Het |
Ribc1 |
T |
C |
X: 150,788,102 (GRCm39) |
T291A |
probably benign |
Het |
Rps6kc1 |
G |
T |
1: 190,532,549 (GRCm39) |
N484K |
possibly damaging |
Het |
Serpina3k |
C |
A |
12: 104,309,369 (GRCm39) |
A271D |
probably benign |
Het |
Spata18 |
G |
T |
5: 73,827,024 (GRCm39) |
R321L |
probably damaging |
Het |
Styxl2 |
C |
A |
1: 165,935,749 (GRCm39) |
V150L |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,976,027 (GRCm39) |
|
probably benign |
Het |
Syt17 |
T |
A |
7: 118,007,389 (GRCm39) |
I302F |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,985,538 (GRCm39) |
|
probably null |
Het |
Tmc2 |
A |
G |
2: 130,074,276 (GRCm39) |
Y323C |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,901,112 (GRCm39) |
D1452G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,620,022 (GRCm39) |
I7555T |
probably damaging |
Het |
Ugt2b36 |
A |
T |
5: 87,238,801 (GRCm39) |
W131R |
probably damaging |
Het |
Vmn2r75 |
A |
T |
7: 85,820,870 (GRCm39) |
C21* |
probably null |
Het |
Zfp592 |
T |
A |
7: 80,691,296 (GRCm39) |
C1158* |
probably null |
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 |
|
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 |
2013-10-07 |