Incidental Mutation 'R6956:Mboat1'
| ID |
541473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mboat1
|
| Ensembl Gene |
ENSMUSG00000038732 |
| Gene Name |
membrane bound O-acyltransferase domain containing 1 |
| Synonyms |
9130215M02Rik, Oact1 |
| MMRRC Submission |
045067-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6956 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
30320499-30430677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30422059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 396
(V396A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047311]
|
| AlphaFold |
Q8BH98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047311
AA Change: V396A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: V396A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBOAT
|
36 |
438 |
4.8e-29 |
PFAM |
|
transmembrane domain
|
455 |
472 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,781,762 (GRCm39) |
V945M |
probably benign |
Het |
| Amotl2 |
A |
G |
9: 102,601,967 (GRCm39) |
T371A |
probably damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,163,132 (GRCm39) |
I86T |
possibly damaging |
Het |
| C9 |
A |
T |
15: 6,474,945 (GRCm39) |
M35L |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,862,528 (GRCm39) |
P661T |
probably damaging |
Het |
| Ccdc202 |
T |
A |
14: 96,119,869 (GRCm39) |
W209R |
probably damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,303,349 (GRCm39) |
S293R |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,261,233 (GRCm39) |
N2500K |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,697,282 (GRCm39) |
S92P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,616,446 (GRCm39) |
I1172F |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,471,470 (GRCm39) |
S364G |
probably damaging |
Het |
| Dpp6 |
A |
T |
5: 27,803,819 (GRCm39) |
N255I |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,748 (GRCm39) |
I440T |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,688,099 (GRCm39) |
T937A |
probably damaging |
Het |
| Fam229b |
T |
A |
10: 39,009,843 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
A |
G |
5: 105,476,241 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,500,263 (GRCm39) |
Y144F |
probably damaging |
Het |
| Kel |
T |
G |
6: 41,664,907 (GRCm39) |
D7A |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,994,668 (GRCm39) |
V166A |
probably benign |
Het |
| Mapt |
T |
C |
11: 104,209,081 (GRCm39) |
|
probably null |
Het |
| Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,435,621 (GRCm39) |
D604G |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,322 (GRCm39) |
T3324A |
unknown |
Het |
| Nalf1 |
T |
A |
8: 9,820,744 (GRCm39) |
Q92L |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,564,757 (GRCm39) |
I495V |
probably benign |
Het |
| Or6c208 |
A |
T |
10: 129,224,166 (GRCm39) |
K221N |
probably benign |
Het |
| Pfkfb2 |
T |
C |
1: 130,635,337 (GRCm39) |
N75D |
probably damaging |
Het |
| Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
| Rpgrip1l |
A |
C |
8: 92,012,941 (GRCm39) |
|
probably null |
Het |
| Scube1 |
T |
C |
15: 83,606,077 (GRCm39) |
Y65C |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Socs7 |
T |
C |
11: 97,267,849 (GRCm39) |
S327P |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,685,021 (GRCm39) |
D591E |
probably damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,748 (GRCm39) |
D4V |
possibly damaging |
Het |
| Tdpoz8 |
T |
C |
3: 92,981,279 (GRCm39) |
V25A |
possibly damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,002,788 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
G |
T |
9: 122,893,768 (GRCm39) |
M155I |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,036,183 (GRCm39) |
V891A |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,819,243 (GRCm39) |
E235G |
probably damaging |
Het |
| Usp2 |
T |
A |
9: 44,004,053 (GRCm39) |
V533E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,837,550 (GRCm39) |
I2665F |
probably damaging |
Het |
| Vmn2r31 |
G |
A |
7: 7,397,505 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn2r84 |
C |
A |
10: 130,225,136 (GRCm39) |
C458F |
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 |
|
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 |
|
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'- AGGACTTCAGTGTGGTCTGC -3'
(R):5'- GAAGGAAGTTATCACTCGGCATC -3'
Sequencing Primer
(F):5'- TCAGTGTGGTCTGCCCGAAG -3'
(R):5'- GAAGTTATCACTCGGCATCAAAAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation