Incidental Mutation 'IGL01085:Acp7'
| ID |
51482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acp7
|
| Ensembl Gene |
ENSMUSG00000037469 |
| Gene Name |
acid phosphatase 7, tartrate resistant |
| Synonyms |
C330005M16Rik, Papl |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
IGL01085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28306701-28330757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28310478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 453
(Y453C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040112]
|
| AlphaFold |
Q8BX37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040112
AA Change: Y453C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: Y453C
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,337,576 (GRCm39) |
D683G |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
| Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,955 (GRCm39) |
H387R |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,864,718 (GRCm39) |
L162P |
probably damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
| Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
| Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
| Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
| Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
T |
16: 17,894,208 (GRCm39) |
V339E |
probably damaging |
Het |
| Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
| Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
| Safb2 |
T |
A |
17: 56,872,242 (GRCm39) |
R197* |
probably null |
Het |
| Slc22a26 |
A |
G |
19: 7,767,464 (GRCm39) |
V314A |
probably benign |
Het |
| Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
| Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
| Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
probably damaging |
Het |
|
| Other mutations in Acp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Acp7
|
APN |
7 |
28,314,122 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL00808:Acp7
|
APN |
7 |
28,314,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Acp7
|
APN |
7 |
28,328,914 (GRCm39) |
missense |
probably benign |
|
|
IGL02250:Acp7
|
APN |
7 |
28,329,135 (GRCm39) |
splice site |
probably benign |
|
|
IGL02255:Acp7
|
APN |
7 |
28,314,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02904:Acp7
|
APN |
7 |
28,307,428 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03110:Acp7
|
APN |
7 |
28,310,464 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0172:Acp7
|
UTSW |
7 |
28,314,549 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0360:Acp7
|
UTSW |
7 |
28,310,553 (GRCm39) |
splice site |
probably benign |
|
|
R0364:Acp7
|
UTSW |
7 |
28,310,553 (GRCm39) |
splice site |
probably benign |
|
|
R1616:Acp7
|
UTSW |
7 |
28,310,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Acp7
|
UTSW |
7 |
28,307,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Acp7
|
UTSW |
7 |
28,328,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Acp7
|
UTSW |
7 |
28,328,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2256:Acp7
|
UTSW |
7 |
28,313,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2257:Acp7
|
UTSW |
7 |
28,313,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2696:Acp7
|
UTSW |
7 |
28,314,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3103:Acp7
|
UTSW |
7 |
28,310,409 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3753:Acp7
|
UTSW |
7 |
28,316,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Acp7
|
UTSW |
7 |
28,314,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4622:Acp7
|
UTSW |
7 |
28,313,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Acp7
|
UTSW |
7 |
28,314,877 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5364:Acp7
|
UTSW |
7 |
28,310,448 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5382:Acp7
|
UTSW |
7 |
28,314,844 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5665:Acp7
|
UTSW |
7 |
28,315,968 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5688:Acp7
|
UTSW |
7 |
28,315,920 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7278:Acp7
|
UTSW |
7 |
28,330,307 (GRCm39) |
missense |
unknown |
|
|
R7295:Acp7
|
UTSW |
7 |
28,328,955 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7384:Acp7
|
UTSW |
7 |
28,314,513 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7875:Acp7
|
UTSW |
7 |
28,314,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8227:Acp7
|
UTSW |
7 |
28,316,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Acp7
|
UTSW |
7 |
28,315,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8969:Acp7
|
UTSW |
7 |
28,307,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Acp7
|
UTSW |
7 |
28,316,616 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9199:Acp7
|
UTSW |
7 |
28,316,591 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9668:Acp7
|
UTSW |
7 |
28,314,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
RF006:Acp7
|
UTSW |
7 |
28,314,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0018:Acp7
|
UTSW |
7 |
28,307,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation