Incidental Mutation 'R4300:Mboat2'
ID |
322387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mboat2
|
Ensembl Gene |
ENSMUSG00000020646 |
Gene Name |
membrane bound O-acyltransferase domain containing 2 |
Synonyms |
Oact2, 2810049G06Rik |
MMRRC Submission |
041657-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4300 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
24881401-25014399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25009082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 463
(N463D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078902]
[ENSMUST00000110942]
[ENSMUST00000221952]
[ENSMUST00000222994]
|
AlphaFold |
Q8R3I2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078902
AA Change: N362D
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000077937 Gene: ENSMUSG00000020646 AA Change: N362D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
97 |
405 |
8.9e-35 |
PFAM |
transmembrane domain
|
410 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110942
AA Change: N495D
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106567 Gene: ENSMUSG00000020646 AA Change: N495D
Domain | Start | End | E-Value | Type |
Pfam:MBOAT
|
21 |
430 |
2.8e-32 |
PFAM |
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221952
AA Change: N463D
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222994
|
Meta Mutation Damage Score |
0.0645 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
Other mutations in Mboat2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00719:Mboat2
|
APN |
12 |
24,989,353 (GRCm39) |
splice site |
probably benign |
|
IGL00755:Mboat2
|
APN |
12 |
25,007,645 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01691:Mboat2
|
APN |
12 |
25,004,221 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02824:Mboat2
|
APN |
12 |
24,996,585 (GRCm39) |
missense |
probably benign |
0.03 |
R1052:Mboat2
|
UTSW |
12 |
24,996,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Mboat2
|
UTSW |
12 |
25,009,029 (GRCm39) |
missense |
probably benign |
|
R1998:Mboat2
|
UTSW |
12 |
24,996,672 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1999:Mboat2
|
UTSW |
12 |
24,996,672 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2069:Mboat2
|
UTSW |
12 |
25,001,442 (GRCm39) |
missense |
probably benign |
|
R2921:Mboat2
|
UTSW |
12 |
25,004,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Mboat2
|
UTSW |
12 |
25,004,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R3113:Mboat2
|
UTSW |
12 |
24,932,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R5133:Mboat2
|
UTSW |
12 |
25,009,065 (GRCm39) |
missense |
probably benign |
0.00 |
R5356:Mboat2
|
UTSW |
12 |
25,007,572 (GRCm39) |
missense |
probably benign |
0.24 |
R6084:Mboat2
|
UTSW |
12 |
24,928,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R6184:Mboat2
|
UTSW |
12 |
25,001,430 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6194:Mboat2
|
UTSW |
12 |
24,996,637 (GRCm39) |
missense |
probably benign |
0.07 |
R6281:Mboat2
|
UTSW |
12 |
25,007,678 (GRCm39) |
missense |
probably benign |
0.18 |
R7026:Mboat2
|
UTSW |
12 |
24,998,381 (GRCm39) |
critical splice donor site |
probably null |
|
R7269:Mboat2
|
UTSW |
12 |
24,881,708 (GRCm39) |
missense |
probably benign |
0.02 |
R7638:Mboat2
|
UTSW |
12 |
24,989,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R7936:Mboat2
|
UTSW |
12 |
25,005,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R8416:Mboat2
|
UTSW |
12 |
24,984,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R8883:Mboat2
|
UTSW |
12 |
25,009,033 (GRCm39) |
missense |
|
|
Z1176:Mboat2
|
UTSW |
12 |
24,998,343 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTGTTGCTGATAACCCTC -3'
(R):5'- TCCAATCTAGTGTATAGGAAACCCC -3'
Sequencing Primer
(F):5'- GTGTTGCTGATAACCCTCTTCCC -3'
(R):5'- TAGTGTATAGGAAACCCCCTATCCG -3'
|
Posted On |
2015-06-20 |