Incidental Mutation 'IGL03253:Acp5'
| ID |
414600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acp5
|
| Ensembl Gene |
ENSMUSG00000001348 |
| Gene Name |
acid phosphatase 5, tartrate resistant |
| Synonyms |
TRAP, TRACP |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
IGL03253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
22038023-22047007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22039083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 210
(I210N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069330]
[ENSMUST00000115315]
[ENSMUST00000165735]
[ENSMUST00000213815]
[ENSMUST00000217643]
|
| AlphaFold |
Q05117 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069330
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065425
Gene: ENSMUSG00000001348
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
28 |
246 |
1.7e-21 |
PFAM |
|
Pfam:Metallophos_2
|
29 |
275 |
7.8e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115315
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110970
Gene: ENSMUSG00000001348
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
28 |
246 |
5.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165735
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127128
Gene: ENSMUSG00000001348
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
28 |
246 |
1.7e-21 |
PFAM |
|
Pfam:Metallophos_2
|
29 |
275 |
7.8e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213815
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216684
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217643
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in skeletal defects such as osteopetrosis, and shortening and widening of the bones. Heterozygous mutants display the same phenotype with lesser severity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,187,657 (GRCm39) |
V98I |
probably benign |
Het |
| Aadacl4 |
G |
T |
4: 144,349,858 (GRCm39) |
V372L |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,891,981 (GRCm39) |
A1287T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,214,002 (GRCm39) |
C72S |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 21,978,068 (GRCm39) |
Q800* |
probably null |
Het |
| Cd47 |
A |
T |
16: 49,714,561 (GRCm39) |
H190L |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,777,324 (GRCm39) |
H849L |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,778 (GRCm39) |
Q2437* |
probably null |
Het |
| Depdc5 |
T |
C |
5: 33,026,157 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
A |
4: 48,208,750 (GRCm39) |
I237F |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 30,839,271 (GRCm39) |
W8* |
probably null |
Het |
| Gucy2d |
C |
T |
7: 98,100,871 (GRCm39) |
A398V |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,871,875 (GRCm39) |
E1357G |
possibly damaging |
Het |
| Ighv1-11 |
T |
C |
12: 114,579,468 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
A |
C |
14: 30,633,880 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
A |
G |
14: 20,192,405 (GRCm39) |
V252A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,415,198 (GRCm39) |
E771G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,078 (GRCm39) |
|
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,510,408 (GRCm39) |
E567G |
possibly damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,143 (GRCm39) |
V171A |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,407,393 (GRCm39) |
D548G |
probably damaging |
Het |
| Psma5-ps |
A |
G |
10: 85,149,556 (GRCm39) |
|
noncoding transcript |
Het |
| Rad54l2 |
A |
G |
9: 106,581,422 (GRCm39) |
V833A |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,337,156 (GRCm39) |
K6* |
probably null |
Het |
| Sun1 |
T |
C |
5: 139,209,341 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,053,434 (GRCm39) |
|
probably null |
Het |
| Ttc1 |
T |
A |
11: 43,629,650 (GRCm39) |
E172V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,599,364 (GRCm39) |
V19215A |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,092 (GRCm39) |
I461V |
probably benign |
Het |
| Wdr73 |
A |
G |
7: 80,547,694 (GRCm39) |
M110T |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,261,770 (GRCm39) |
D111V |
probably damaging |
Het |
| Zscan4f |
T |
A |
7: 11,135,270 (GRCm39) |
N225K |
probably benign |
Het |
|
| Other mutations in Acp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0238:Acp5
|
UTSW |
9 |
22,041,218 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0238:Acp5
|
UTSW |
9 |
22,041,218 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1592:Acp5
|
UTSW |
9 |
22,039,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Acp5
|
UTSW |
9 |
22,040,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2418:Acp5
|
UTSW |
9 |
22,041,248 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4817:Acp5
|
UTSW |
9 |
22,038,379 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4961:Acp5
|
UTSW |
9 |
22,041,233 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8218:Acp5
|
UTSW |
9 |
22,040,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Acp5
|
UTSW |
9 |
22,038,489 (GRCm39) |
nonsense |
probably null |
|
|
R9144:Acp5
|
UTSW |
9 |
22,041,242 (GRCm39) |
missense |
probably benign |
|
|
R9366:Acp5
|
UTSW |
9 |
22,039,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Acp5
|
UTSW |
9 |
22,038,483 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation