Incidental Mutation 'R9053:Acp7'
| ID |
688509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp7
|
| Ensembl Gene |
ENSMUSG00000037469 |
| Gene Name |
acid phosphatase 7, tartrate resistant |
| Synonyms |
C330005M16Rik, Papl |
| MMRRC Submission |
068879-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R9053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28306701-28330757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28316616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 120
(F120L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040112]
[ENSMUST00000159418]
[ENSMUST00000159560]
|
| AlphaFold |
Q8BX37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040112
AA Change: F120L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: F120L
| 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 |
possibly damaging
Transcript: ENSMUST00000159418
AA Change: F62L
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159560
AA Change: F62L
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.2031 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,147,402 (GRCm39) |
V205A |
probably damaging |
Het |
| Adh4 |
T |
C |
3: 138,128,045 (GRCm39) |
V157A |
probably damaging |
Het |
| Ahsa2 |
T |
C |
11: 23,443,314 (GRCm39) |
E146G |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,822,389 (GRCm39) |
S353P |
|
Het |
| Apob |
T |
C |
12: 8,058,954 (GRCm39) |
S2479P |
possibly damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,641,760 (GRCm39) |
L203P |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,583 (GRCm39) |
N265I |
possibly damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,518,768 (GRCm38) |
|
probably null |
Het |
| Dagla |
G |
A |
19: 10,246,615 (GRCm39) |
R162C |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,135 (GRCm39) |
D304G |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,618,987 (GRCm39) |
L1638Q |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,061,640 (GRCm39) |
N2815I |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,510,371 (GRCm39) |
D94G |
probably benign |
Het |
| Epor |
G |
T |
9: 21,870,655 (GRCm39) |
D408E |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,289,779 (GRCm39) |
N754S |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,895,798 (GRCm39) |
I773T |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,941,324 (GRCm39) |
Y72* |
probably null |
Het |
| Fbxw18 |
T |
G |
9: 109,517,491 (GRCm39) |
D404A |
probably benign |
Het |
| Flot1 |
T |
A |
17: 36,140,859 (GRCm39) |
V283E |
probably damaging |
Het |
| Gm5145 |
G |
T |
17: 20,791,194 (GRCm39) |
G191W |
probably damaging |
Het |
| Gpr161 |
G |
A |
1: 165,134,166 (GRCm39) |
|
probably benign |
Het |
| Helz |
C |
A |
11: 107,563,761 (GRCm39) |
Q1734K |
unknown |
Het |
| Hycc1 |
A |
G |
5: 24,184,579 (GRCm39) |
C300R |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,747,822 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Khdc4 |
T |
A |
3: 88,596,582 (GRCm39) |
L121Q |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,732,716 (GRCm39) |
T2534S |
unknown |
Het |
| Lingo3 |
T |
C |
10: 80,670,821 (GRCm39) |
N370D |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,748,501 (GRCm39) |
V3113A |
|
Het |
| Mthfs |
C |
T |
9: 89,097,454 (GRCm39) |
L104F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,488,607 (GRCm39) |
V576D |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,217,013 (GRCm39) |
R1001G |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,972,636 (GRCm39) |
A2137T |
probably benign |
Het |
| Ociad1 |
T |
A |
5: 73,460,951 (GRCm39) |
H70Q |
probably damaging |
Het |
| Opa1 |
T |
A |
16: 29,404,836 (GRCm39) |
C11* |
probably null |
Het |
| Or4a76 |
A |
G |
2: 89,461,161 (GRCm39) |
V27A |
probably benign |
Het |
| Parp10 |
T |
C |
15: 76,125,964 (GRCm39) |
E408G |
possibly damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,143 (GRCm39) |
E313K |
probably benign |
Het |
| Pmel |
G |
T |
10: 128,551,918 (GRCm39) |
A251S |
probably benign |
Het |
| Polr3d |
G |
T |
14: 70,678,153 (GRCm39) |
P181T |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,430,104 (GRCm39) |
H69L |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,289,628 (GRCm39) |
Y395N |
possibly damaging |
Het |
| Rubcnl |
A |
T |
14: 75,269,717 (GRCm39) |
N125I |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,030,446 (GRCm39) |
F221S |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,403,684 (GRCm39) |
S1179R |
unknown |
Het |
| Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,320,839 (GRCm39) |
Y54C |
probably damaging |
Het |
| Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
A |
T |
11: 78,212,575 (GRCm39) |
I1137F |
probably benign |
Het |
| Tchp |
A |
T |
5: 114,853,916 (GRCm39) |
Y277F |
probably benign |
Het |
| Tdrd12 |
A |
C |
7: 35,204,468 (GRCm39) |
L267W |
probably damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,396,092 (GRCm39) |
I107N |
|
Het |
| Vmn1r9 |
T |
C |
6: 57,048,513 (GRCm39) |
V196A |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,413,920 (GRCm39) |
D841V |
|
Het |
| Zzef1 |
G |
T |
11: 72,813,302 (GRCm39) |
R2901L |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTCCACACAGAAGAGCC -3'
(R):5'- CCAGCTTGGAAATAGCGGAG -3'
Sequencing Primer
(F):5'- GCCACAGGTCTCAATAGCTTCTAG -3'
(R):5'- CTTGGAAATAGCGGAGGGGAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation