Incidental Mutation 'IGL00808:Acp7'
ID |
9330 |
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 # |
IGL00808
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
28306701-28330757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28314377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 297
(I297T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040112]
[ENSMUST00000159418]
[ENSMUST00000159560]
|
AlphaFold |
Q8BX37 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040112
AA Change: I297T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000045437 Gene: ENSMUSG00000037469 AA Change: I297T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159418
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159560
|
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: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
T |
C |
13: 59,609,908 (GRCm39) |
E131G |
possibly damaging |
Het |
Ankrd12 |
A |
G |
17: 66,290,960 (GRCm39) |
L1491S |
probably benign |
Het |
Arid4b |
T |
C |
13: 14,310,846 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
A |
1: 139,389,214 (GRCm39) |
S626T |
probably benign |
Het |
Catsperg1 |
A |
G |
7: 28,897,571 (GRCm39) |
S238P |
probably damaging |
Het |
Clns1a |
A |
G |
7: 97,365,721 (GRCm39) |
H241R |
probably damaging |
Het |
Cryzl2 |
T |
C |
1: 157,298,246 (GRCm39) |
F212L |
probably benign |
Het |
Epha5 |
A |
T |
5: 84,254,559 (GRCm39) |
V519E |
probably damaging |
Het |
Kcnq3 |
T |
C |
15: 65,867,603 (GRCm39) |
D680G |
possibly damaging |
Het |
Kras |
T |
C |
6: 145,192,474 (GRCm39) |
T20A |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,225,830 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,616,121 (GRCm39) |
|
probably benign |
Het |
Pde8a |
G |
A |
7: 80,932,762 (GRCm39) |
|
probably null |
Het |
Rasgef1a |
A |
T |
6: 118,065,164 (GRCm39) |
K384M |
probably damaging |
Het |
Selenov |
A |
G |
7: 27,989,851 (GRCm39) |
S218P |
probably damaging |
Het |
Tg |
T |
A |
15: 66,555,662 (GRCm39) |
Y785N |
probably damaging |
Het |
Ttll13 |
G |
T |
7: 79,909,297 (GRCm39) |
A661S |
possibly 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 |
IGL01085:Acp7
|
APN |
7 |
28,310,478 (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 |
2012-12-06 |