Incidental Mutation 'R6107:Acyp2'
| ID |
485564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acyp2
|
| Ensembl Gene |
ENSMUSG00000060923 |
| Gene Name |
acylphosphatase 2, muscle type |
| Synonyms |
2310004B09Rik |
| MMRRC Submission |
044257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R6107 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30455991-30599587 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30456354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 98
(E98K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074613]
|
| AlphaFold |
P56375 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074613
AA Change: E98K
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074195
Gene: ENSMUSG00000060923
AA Change: E98K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acylphosphatase
|
10 |
105 |
1.5e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.1234 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,881 (GRCm39) |
N610K |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
| E2f8 |
A |
G |
7: 48,517,424 (GRCm39) |
V793A |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
| Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
| Fbxw19 |
C |
T |
9: 109,324,834 (GRCm39) |
V28M |
probably damaging |
Het |
| Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
| Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
| Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
| Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
| Med23 |
A |
T |
10: 24,781,932 (GRCm39) |
K713* |
probably null |
Het |
| Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
| Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
| Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
| Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
| Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
| Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
| Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
| Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,831,314 (GRCm39) |
V259A |
possibly damaging |
Het |
| Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
| Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,780,104 (GRCm39) |
V680A |
probably damaging |
Het |
| Ttyh3 |
A |
C |
5: 140,619,317 (GRCm39) |
|
probably null |
Het |
| Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
| Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
possibly damaging |
Het |
|
| Other mutations in Acyp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01587:Acyp2
|
APN |
11 |
30,456,362 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGCTTGCTAAAACATAGGTGAG -3'
(R):5'- AGCAAGGTAATACTGACCTTGAAG -3'
Sequencing Primer
(F):5'- AGGTGAGTAAATGTTTTCAGTTTCAG -3'
(R):5'- GGTAATACTGACCTTGAAGAGTTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation