Incidental Mutation 'R4958:Mboat1'
| ID |
381724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mboat1
|
| Ensembl Gene |
ENSMUSG00000038732 |
| Gene Name |
membrane bound O-acyltransferase domain containing 1 |
| Synonyms |
9130215M02Rik, Oact1 |
| MMRRC Submission |
042555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4958 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
30320499-30430677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30408376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 180
(S180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047311]
|
| AlphaFold |
Q8BH98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047311
AA Change: S180P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: S180P
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd7 |
A |
G |
6: 18,866,722 (GRCm39) |
S81G |
probably benign |
Het |
| Arel1 |
T |
C |
12: 84,973,078 (GRCm39) |
K573R |
possibly damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
| Cdh2 |
T |
G |
18: 16,760,622 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,559,339 (GRCm39) |
I99N |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,699,916 (GRCm39) |
T256A |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ereg |
T |
C |
5: 91,237,970 (GRCm39) |
V152A |
probably damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,641 (GRCm39) |
T105A |
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,377,467 (GRCm39) |
I121T |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,759,764 (GRCm39) |
L728Q |
probably damaging |
Het |
| Llgl1 |
G |
T |
11: 60,602,261 (GRCm39) |
R768L |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,048 (GRCm39) |
I573V |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,369,157 (GRCm39) |
T303K |
probably damaging |
Het |
| Map3k5 |
A |
T |
10: 19,899,535 (GRCm39) |
Q264L |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,700,183 (GRCm39) |
D655G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,785 (GRCm39) |
E1521G |
possibly damaging |
Het |
| Nsd2 |
T |
A |
5: 34,049,366 (GRCm39) |
S1200R |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,595,808 (GRCm39) |
F12L |
probably damaging |
Het |
| Or52n2b |
T |
C |
7: 104,565,668 (GRCm39) |
I278M |
probably damaging |
Het |
| Or6z3 |
G |
A |
7: 6,464,057 (GRCm39) |
C183Y |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,449 (GRCm39) |
M118V |
possibly damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,796,784 (GRCm39) |
I875T |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,885 (GRCm39) |
F26I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,814 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,644,841 (GRCm39) |
R315S |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,217 (GRCm39) |
R727Q |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,119,657 (GRCm39) |
V91D |
probably benign |
Het |
| Slco1a6 |
C |
A |
6: 142,091,431 (GRCm39) |
G90C |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,867,134 (GRCm39) |
Y106C |
probably benign |
Het |
| Syt13 |
G |
A |
2: 92,783,794 (GRCm39) |
V355M |
probably damaging |
Het |
| Tjp1 |
G |
A |
7: 64,985,850 (GRCm39) |
R314* |
probably null |
Het |
| Tshr |
A |
G |
12: 91,504,961 (GRCm39) |
D633G |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,701 (GRCm39) |
F202S |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,763,533 (GRCm39) |
W427R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGCCTCTTCCCTCAGAG -3'
(R):5'- AGAAGGCTCTGGCAAACTCTG -3'
Sequencing Primer
(F):5'- GACATGAAACTGTGAGCATCTC -3'
(R):5'- GGCTCTGGCAAACTCTGGAAAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation