Incidental Mutation 'R3103:Acp7'
| ID |
262897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp7
|
| Ensembl Gene |
ENSMUSG00000037469 |
| Gene Name |
acid phosphatase 7, tartrate resistant |
| Synonyms |
Papl, C330005M16Rik |
| MMRRC Submission |
040577-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R3103 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28607634-28631332 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 28610984 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040112]
|
| AlphaFold |
Q8BX37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040112
|
| SMART Domains |
Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pur_ac_phosph_N
|
90 |
183 |
2.2e-19 |
PFAM |
|
Pfam:Metallophos
|
192 |
395 |
6.4e-27 |
PFAM |
|
Pfam:Metallophos_C
|
420 |
482 |
4.5e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
G |
T |
11: 80,157,033 (GRCm38) |
C105F |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,422,001 (GRCm38) |
|
probably null |
Het |
| Bpifc |
A |
G |
10: 85,993,422 (GRCm38) |
S94P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,395,252 (GRCm38) |
D347G |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,061,674 (GRCm38) |
V613A |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,202,841 (GRCm38) |
H6R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,837,139 (GRCm38) |
T1956A |
probably benign |
Het |
| Cep128 |
T |
A |
12: 91,019,344 (GRCm38) |
D1006V |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,747,201 (GRCm38) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,917,405 (GRCm38) |
V3153M |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,653,144 (GRCm38) |
E122G |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,250,958 (GRCm38) |
I245F |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 167,026,246 (GRCm38) |
V333E |
probably damaging |
Het |
| Dmpk |
A |
G |
7: 19,087,654 (GRCm38) |
Y279C |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,327,995 (GRCm38) |
I111V |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 70,008,869 (GRCm38) |
P546T |
possibly damaging |
Het |
| Fat4 |
G |
T |
3: 38,891,940 (GRCm38) |
A1661S |
probably benign |
Het |
| Gcm1 |
A |
G |
9: 78,064,452 (GRCm38) |
N225S |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 40,918,606 (GRCm38) |
M242L |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,894,849 (GRCm38) |
R226G |
probably damaging |
Het |
| Gpr63 |
G |
A |
4: 25,007,353 (GRCm38) |
V26I |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,240,772 (GRCm38) |
L631P |
probably damaging |
Het |
| Hapln3 |
T |
C |
7: 79,121,736 (GRCm38) |
D135G |
probably benign |
Het |
| Il31ra |
C |
A |
13: 112,530,351 (GRCm38) |
V398F |
probably damaging |
Het |
| Ipp |
G |
T |
4: 116,524,249 (GRCm38) |
R315L |
possibly damaging |
Het |
| Kcmf1 |
A |
G |
6: 72,861,847 (GRCm38) |
L32P |
probably damaging |
Het |
| Klf17 |
T |
A |
4: 117,760,608 (GRCm38) |
Q184L |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,431,984 (GRCm38) |
V4442I |
probably benign |
Het |
| Lrrfip2 |
A |
T |
9: 111,222,210 (GRCm38) |
E293D |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,438,891 (GRCm38) |
I29T |
probably damaging |
Het |
| Or1a1 |
G |
A |
11: 74,196,075 (GRCm38) |
D191N |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,793,562 (GRCm38) |
C109R |
possibly damaging |
Het |
| Or51h1 |
T |
C |
7: 102,659,481 (GRCm38) |
V220A |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,328,029 (GRCm38) |
M842K |
possibly damaging |
Het |
| Ppt1 |
T |
C |
4: 122,836,307 (GRCm38) |
C18R |
probably benign |
Het |
| Pstpip2 |
T |
C |
18: 77,871,777 (GRCm38) |
Y191H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 29,074,948 (GRCm38) |
V2361I |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,377,608 (GRCm38) |
N238S |
probably benign |
Het |
| Skor2 |
A |
T |
18: 76,859,278 (GRCm38) |
K232* |
probably null |
Het |
| Slc13a5 |
A |
T |
11: 72,257,388 (GRCm38) |
W231R |
probably damaging |
Het |
| Svs5 |
A |
T |
2: 164,333,393 (GRCm38) |
E55V |
probably benign |
Het |
| Tfcp2 |
A |
T |
15: 100,525,600 (GRCm38) |
W142R |
probably damaging |
Het |
| Trpc2 |
A |
T |
7: 102,095,234 (GRCm38) |
I738F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 42,266,643 (GRCm38) |
S227T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,399,326 (GRCm38) |
T1540A |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 74,071,735 (GRCm38) |
T74A |
probably benign |
Het |
|
| Other mutations in Acp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Acp7
|
APN |
7 |
28,614,697 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL00808:Acp7
|
APN |
7 |
28,614,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01085:Acp7
|
APN |
7 |
28,611,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02123:Acp7
|
APN |
7 |
28,629,489 (GRCm38) |
missense |
probably benign |
|
|
IGL02250:Acp7
|
APN |
7 |
28,629,710 (GRCm38) |
splice site |
probably benign |
|
|
IGL02255:Acp7
|
APN |
7 |
28,614,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02904:Acp7
|
APN |
7 |
28,608,003 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL03110:Acp7
|
APN |
7 |
28,611,039 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0172:Acp7
|
UTSW |
7 |
28,615,124 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0360:Acp7
|
UTSW |
7 |
28,611,128 (GRCm38) |
splice site |
probably benign |
|
|
R0364:Acp7
|
UTSW |
7 |
28,611,128 (GRCm38) |
splice site |
probably benign |
|
|
R1616:Acp7
|
UTSW |
7 |
28,611,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1973:Acp7
|
UTSW |
7 |
28,607,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2077:Acp7
|
UTSW |
7 |
28,629,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2125:Acp7
|
UTSW |
7 |
28,629,549 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2256:Acp7
|
UTSW |
7 |
28,614,413 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2257:Acp7
|
UTSW |
7 |
28,614,413 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2696:Acp7
|
UTSW |
7 |
28,614,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3753:Acp7
|
UTSW |
7 |
28,616,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3833:Acp7
|
UTSW |
7 |
28,615,094 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4622:Acp7
|
UTSW |
7 |
28,614,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4849:Acp7
|
UTSW |
7 |
28,615,452 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5364:Acp7
|
UTSW |
7 |
28,611,023 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5382:Acp7
|
UTSW |
7 |
28,615,419 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5665:Acp7
|
UTSW |
7 |
28,616,543 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5688:Acp7
|
UTSW |
7 |
28,616,495 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7278:Acp7
|
UTSW |
7 |
28,630,882 (GRCm38) |
missense |
unknown |
|
|
R7295:Acp7
|
UTSW |
7 |
28,629,530 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7384:Acp7
|
UTSW |
7 |
28,615,088 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7875:Acp7
|
UTSW |
7 |
28,614,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8227:Acp7
|
UTSW |
7 |
28,616,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8772:Acp7
|
UTSW |
7 |
28,616,484 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8969:Acp7
|
UTSW |
7 |
28,607,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9053:Acp7
|
UTSW |
7 |
28,617,191 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9199:Acp7
|
UTSW |
7 |
28,617,166 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9668:Acp7
|
UTSW |
7 |
28,615,137 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
RF006:Acp7
|
UTSW |
7 |
28,614,779 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
X0018:Acp7
|
UTSW |
7 |
28,607,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCCAGTTGGCCTTGAAGTG -3'
(R):5'- CGCACTTGTCTGACTGTCTG -3'
Sequencing Primer
(F):5'- AGGGGCTCTACCATTAAGCCATG -3'
(R):5'- GTCTGACTGTCTGTCCTCCAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation