Incidental Mutation 'IGL02225:Acp4'
| ID |
285328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acp4
|
| Ensembl Gene |
ENSMUSG00000012777 |
| Gene Name |
acid phosphatase 4 |
| Synonyms |
Acpt, EG546967 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43901572-43906802 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4426 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 43906165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012921]
[ENSMUST00000055858]
[ENSMUST00000071296]
[ENSMUST00000084937]
[ENSMUST00000107945]
[ENSMUST00000107948]
[ENSMUST00000107949]
[ENSMUST00000118216]
[ENSMUST00000124863]
[ENSMUST00000188382]
[ENSMUST00000188111]
[ENSMUST00000107950]
|
| AlphaFold |
D3YTS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012921
|
| SMART Domains |
Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
30 |
338 |
3.2e-53 |
PFAM |
|
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055858
|
| SMART Domains |
Protein: ENSMUSP00000103583
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000071296
|
| SMART Domains |
Protein: ENSMUSP00000071265
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000084937
|
| SMART Domains |
Protein: ENSMUSP00000095894
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107945
|
| SMART Domains |
Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
30 |
324 |
2.3e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107948
|
| SMART Domains |
Protein: ENSMUSP00000103581
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107949
|
| SMART Domains |
Protein: ENSMUSP00000103582
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118216
|
| SMART Domains |
Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
30 |
338 |
3.2e-53 |
PFAM |
|
transmembrane domain
|
392 |
414 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137742
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188382
|
| SMART Domains |
Protein: ENSMUSP00000140200
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188111
|
| SMART Domains |
Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107950
|
| SMART Domains |
Protein: ENSMUSP00000103584
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
177 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
| Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,910 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
| Dlg3 |
A |
G |
X: 99,850,794 (GRCm39) |
K232R |
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
| Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
| Hnf1b |
T |
C |
11: 83,752,611 (GRCm39) |
L82P |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
| Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
| Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
| Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
| Snx1 |
G |
A |
9: 66,016,903 (GRCm39) |
P56L |
probably benign |
Het |
| Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
| Tbrg4 |
C |
A |
11: 6,574,094 (GRCm39) |
V43F |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
| Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,463,197 (GRCm39) |
V710D |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
| Zbed5 |
C |
T |
5: 129,930,974 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
probably damaging |
Het |
|
| Other mutations in Acp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Acp4
|
APN |
7 |
43,902,875 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01067:Acp4
|
APN |
7 |
43,902,876 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01739:Acp4
|
APN |
7 |
43,906,210 (GRCm39) |
nonsense |
probably null |
|
|
IGL02013:Acp4
|
APN |
7 |
43,904,505 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02648:Acp4
|
APN |
7 |
43,904,414 (GRCm39) |
unclassified |
probably benign |
|
|
R0764:Acp4
|
UTSW |
7 |
43,901,738 (GRCm39) |
unclassified |
probably benign |
|
|
R1328:Acp4
|
UTSW |
7 |
43,906,516 (GRCm39) |
splice site |
probably null |
|
|
R1411:Acp4
|
UTSW |
7 |
43,906,267 (GRCm39) |
unclassified |
probably benign |
|
|
R1754:Acp4
|
UTSW |
7 |
43,904,428 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2163:Acp4
|
UTSW |
7 |
43,905,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2193:Acp4
|
UTSW |
7 |
43,902,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5120:Acp4
|
UTSW |
7 |
43,906,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7890:Acp4
|
UTSW |
7 |
43,903,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Acp4
|
UTSW |
7 |
43,905,272 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8915:Acp4
|
UTSW |
7 |
43,903,751 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8959:Acp4
|
UTSW |
7 |
43,906,399 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9685:Acp4
|
UTSW |
7 |
43,906,733 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation