Incidental Mutation 'R8557:Acp4'
| ID |
660158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp4
|
| Ensembl Gene |
ENSMUSG00000012777 |
| Gene Name |
acid phosphatase 4 |
| Synonyms |
Acpt, EG546967 |
| MMRRC Submission |
068520-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43901572-43906802 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 43905272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012921]
[ENSMUST00000055858]
[ENSMUST00000071296]
[ENSMUST00000084937]
[ENSMUST00000107945]
[ENSMUST00000107948]
[ENSMUST00000107949]
[ENSMUST00000107950]
[ENSMUST00000118216]
[ENSMUST00000137702]
[ENSMUST00000146155]
[ENSMUST00000185481]
[ENSMUST00000186606]
[ENSMUST00000187524]
[ENSMUST00000188111]
[ENSMUST00000188382]
[ENSMUST00000191537]
|
| AlphaFold |
D3YTS9 |
| Predicted Effect |
probably null
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 benign
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 benign
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 benign
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 null
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 benign
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 benign
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: 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 |
|
| Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000137702
|
| SMART Domains |
Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146155
|
| SMART Domains |
Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185481
|
| SMART Domains |
Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186606
|
| SMART Domains |
Protein: ENSMUSP00000139441
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187524
|
| SMART Domains |
Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000191537
|
| SMART Domains |
Protein: ENSMUSP00000141077
Gene: ENSMUSG00000045411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
C |
5: 64,055,954 (GRCm39) |
V230A |
probably benign |
Het |
| Ablim2 |
A |
T |
5: 35,985,483 (GRCm39) |
H260L |
probably damaging |
Het |
| Acvr2b |
G |
T |
9: 119,261,654 (GRCm39) |
V416L |
probably damaging |
Het |
| Adipoq |
A |
T |
16: 22,965,430 (GRCm39) |
|
probably benign |
Het |
| Amhr2 |
A |
G |
15: 102,362,847 (GRCm39) |
Q538R |
probably benign |
Het |
| Apoh |
C |
T |
11: 108,300,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,384,494 (GRCm39) |
T97I |
probably benign |
Het |
| Atg16l2 |
A |
T |
7: 100,939,863 (GRCm39) |
H499Q |
probably benign |
Het |
| Bicdl2 |
G |
A |
17: 23,886,536 (GRCm39) |
R375H |
probably benign |
Het |
| C3 |
T |
C |
17: 57,531,383 (GRCm39) |
T304A |
probably benign |
Het |
| Cast |
A |
T |
13: 74,852,301 (GRCm39) |
D647E |
probably damaging |
Het |
| Chrm2 |
T |
C |
6: 36,501,010 (GRCm39) |
V289A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,377,217 (GRCm39) |
D694G |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,427,438 (GRCm39) |
R215C |
possibly damaging |
Het |
| Dctn2 |
T |
C |
10: 127,114,062 (GRCm39) |
L334P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,842,247 (GRCm39) |
I4444T |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,600 (GRCm39) |
R5L |
unknown |
Het |
| Ercc1 |
A |
G |
7: 19,082,480 (GRCm39) |
N11S |
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,472,520 (GRCm39) |
S113P |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,706,610 (GRCm39) |
V958A |
probably benign |
Het |
| Fgf10 |
A |
G |
13: 118,918,132 (GRCm39) |
K140R |
probably benign |
Het |
| Gfra2 |
G |
A |
14: 71,214,737 (GRCm39) |
M163I |
probably benign |
Het |
| Gm14403 |
T |
C |
2: 177,201,354 (GRCm39) |
I191T |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,341,219 (GRCm39) |
E977D |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,714 (GRCm39) |
N354S |
possibly damaging |
Het |
| Hpgds |
A |
T |
6: 65,096,999 (GRCm39) |
I170N |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,296,379 (GRCm39) |
V356A |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,893,370 (GRCm39) |
|
probably null |
Het |
| Mettl13 |
C |
T |
1: 162,371,921 (GRCm39) |
G316D |
possibly damaging |
Het |
| Mia2 |
T |
A |
12: 59,148,274 (GRCm39) |
L45I |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,996,543 (GRCm39) |
|
probably null |
Het |
| Mob3a |
G |
T |
10: 80,527,008 (GRCm39) |
R106S |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,040,660 (GRCm39) |
F737I |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,703,081 (GRCm39) |
A2053T |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,246,252 (GRCm39) |
S127G |
probably benign |
Het |
| Naaladl2 |
T |
A |
3: 24,262,528 (GRCm39) |
K395I |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,336,986 (GRCm39) |
M678L |
probably benign |
Het |
| Nefh |
A |
T |
11: 4,891,233 (GRCm39) |
I462N |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,157,025 (GRCm39) |
M322T |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,562 (GRCm39) |
D71V |
probably damaging |
Het |
| Or56b1 |
T |
A |
7: 104,285,103 (GRCm39) |
V74E |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,528,495 (GRCm39) |
N288S |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,444,725 (GRCm39) |
C2257Y |
probably damaging |
Het |
| Sec23a |
G |
T |
12: 59,052,056 (GRCm39) |
Q90K |
probably damaging |
Het |
| Shisal2a |
T |
A |
4: 108,225,085 (GRCm39) |
N159I |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,712,685 (GRCm39) |
T61A |
possibly damaging |
Het |
| Slc39a11 |
C |
A |
11: 113,141,385 (GRCm39) |
A234S |
probably damaging |
Het |
| Smg6 |
C |
A |
11: 75,047,064 (GRCm39) |
N1252K |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,326,227 (GRCm39) |
D197E |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,842,761 (GRCm39) |
F59L |
probably damaging |
Het |
| Tectb |
T |
A |
19: 55,181,105 (GRCm39) |
|
probably benign |
Het |
| Tnnc1 |
G |
A |
14: 30,932,562 (GRCm39) |
V82I |
probably damaging |
Het |
| Traf7 |
A |
T |
17: 24,729,015 (GRCm39) |
V513D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,399,908 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
A |
T |
17: 22,790,910 (GRCm39) |
Y129* |
probably null |
Het |
| Vrtn |
T |
A |
12: 84,696,690 (GRCm39) |
F480Y |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,246,649 (GRCm39) |
I664F |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,193,136 (GRCm39) |
V401E |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,180,835 (GRCm39) |
N231I |
probably benign |
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 |
|
IGL02225:Acp4
|
APN |
7 |
43,906,165 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGGATCCACCTGGCTTG -3'
(R):5'- ATTTGAGACCCTGCTGACC -3'
Sequencing Primer
(F):5'- CTTGGACAGGCTAGGAAATCCTTC -3'
(R):5'- AGACCCTGCTGACCCTTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation