Incidental Mutation 'IGL01587:Acyp2'
| ID |
93360 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acyp2
|
| Ensembl Gene |
ENSMUSG00000060923 |
| Gene Name |
acylphosphatase 2, muscle type |
| Synonyms |
2310004B09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL01587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
30455991-30599587 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30456362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 95
(S95F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074613]
|
| AlphaFold |
P56375 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074613
AA Change: S95F
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000074195
Gene: ENSMUSG00000060923
AA Change: S95F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acylphosphatase
|
10 |
105 |
1.5e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casr |
A |
T |
16: 36,330,127 (GRCm39) |
N402K |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,139,110 (GRCm39) |
|
probably null |
Het |
| Eps8 |
A |
G |
6: 137,491,711 (GRCm39) |
F339S |
probably damaging |
Het |
| Gnaz |
T |
A |
10: 74,827,776 (GRCm39) |
L176Q |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,700,467 (GRCm39) |
Y134* |
probably null |
Het |
| Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,679,092 (GRCm39) |
N45D |
probably damaging |
Het |
| Simc1 |
A |
T |
13: 54,687,517 (GRCm39) |
R95S |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,816 (GRCm39) |
V527M |
probably damaging |
Het |
| Tbx18 |
A |
G |
9: 87,606,461 (GRCm39) |
V228A |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,512,709 (GRCm39) |
V1319I |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,623,397 (GRCm39) |
R1044Q |
probably damaging |
Het |
|
| Other mutations in Acyp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02365:Acyp2
|
APN |
11 |
30,599,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Acyp2
|
UTSW |
11 |
30,456,452 (GRCm39) |
splice site |
probably benign |
|
|
R2419:Acyp2
|
UTSW |
11 |
30,582,316 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5389:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5393:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5423:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5425:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5426:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5460:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5462:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5464:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5560:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5561:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5602:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5826:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5901:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5902:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5999:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6046:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6066:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6107:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6128:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6196:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6198:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2013-12-09 |
Incidental Mutation