Incidental Mutation 'R2696:Acp7'
| ID |
251060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp7
|
| Ensembl Gene |
ENSMUSG00000037469 |
| Gene Name |
acid phosphatase 7, tartrate resistant |
| Synonyms |
C330005M16Rik, Papl |
| MMRRC Submission |
040434-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R2696 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28306701-28330757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28314001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 369
(H369Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040112]
[ENSMUST00000159418]
[ENSMUST00000159560]
|
| AlphaFold |
Q8BX37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040112
AA Change: H369Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: H369Q
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,668,228 (GRCm39) |
T540S |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,747,702 (GRCm39) |
N65S |
probably benign |
Het |
| Anln |
A |
G |
9: 22,272,259 (GRCm39) |
V620A |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,366 (GRCm39) |
S966R |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,370,017 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Col4a1 |
T |
A |
8: 11,285,092 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,871 (GRCm39) |
H291R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,088,416 (GRCm39) |
Y4C |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,278,722 (GRCm39) |
N1106D |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,352,914 (GRCm39) |
D662G |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,808 (GRCm39) |
V297E |
possibly damaging |
Het |
| Faf1 |
T |
A |
4: 109,698,525 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gdf3 |
A |
C |
6: 122,583,859 (GRCm39) |
F169L |
probably benign |
Het |
| Ifi213 |
G |
A |
1: 173,417,590 (GRCm39) |
T274I |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,914,231 (GRCm39) |
D1746G |
possibly damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,826 (GRCm39) |
K32R |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,698,239 (GRCm39) |
Q594L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,384,890 (GRCm39) |
I402N |
probably benign |
Het |
| Med18 |
G |
A |
4: 132,187,281 (GRCm39) |
R118W |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,372 (GRCm39) |
E414G |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,168,176 (GRCm39) |
T447A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,279,935 (GRCm39) |
E27G |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,283,439 (GRCm38) |
L406S |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,145,998 (GRCm39) |
I36T |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,735 (GRCm39) |
I19T |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,585 (GRCm39) |
Y156C |
probably damaging |
Het |
| Pkd2l1 |
T |
A |
19: 44,145,708 (GRCm39) |
T172S |
probably benign |
Het |
| Pknox2 |
G |
A |
9: 36,820,987 (GRCm39) |
R292* |
probably null |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,532,600 (GRCm39) |
L212P |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,653 (GRCm39) |
I215M |
possibly damaging |
Het |
| Psmg2 |
T |
C |
18: 67,781,288 (GRCm39) |
Y127H |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptp4a1 |
A |
T |
1: 30,985,213 (GRCm39) |
M4K |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,552,427 (GRCm39) |
I475L |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCGGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,659,522 (GRCm39) |
I70N |
probably benign |
Het |
| Slc2a5 |
A |
C |
4: 150,205,203 (GRCm39) |
K4T |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,119 (GRCm39) |
Y939C |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,579,345 (GRCm39) |
*229W |
probably null |
Het |
| Slco1a6 |
C |
A |
6: 142,058,662 (GRCm39) |
G206C |
probably damaging |
Het |
| Spata9 |
A |
G |
13: 76,125,895 (GRCm39) |
Q126R |
probably benign |
Het |
| Speg |
A |
T |
1: 75,383,570 (GRCm39) |
D1186V |
probably benign |
Het |
| Spink5 |
T |
G |
18: 44,115,359 (GRCm39) |
M197R |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,697,363 (GRCm39) |
D1975G |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,176,385 (GRCm39) |
C224* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,698,807 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,721,116 (GRCm39) |
E397K |
probably benign |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,344 (GRCm39) |
M313K |
probably damaging |
Het |
| Ulk3 |
A |
G |
9: 57,497,724 (GRCm39) |
I74V |
possibly damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,573 (GRCm39) |
V194A |
probably damaging |
Het |
| Zfp27 |
C |
T |
7: 29,595,792 (GRCm39) |
A58T |
possibly damaging |
Het |
| Zfp398 |
T |
G |
6: 47,843,879 (GRCm39) |
*512E |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGCGCCTTGGTCACTTG -3'
(R):5'- TGGATCATCACGATGGGTCATC -3'
Sequencing Primer
(F):5'- CTCACCTGGTAGTTGTAAATTGGCC -3'
(R):5'- ATGGGTCATCGGCCTATGTAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation