Incidental Mutation 'IGL02489:Ppa1'
| ID |
295545 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppa1
|
| Ensembl Gene |
ENSMUSG00000020089 |
| Gene Name |
pyrophosphatase (inorganic) 1 |
| Synonyms |
Pyp, 2010317E03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02489
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
61484400-61509944 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61501223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 163
(D163E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020286]
|
| AlphaFold |
Q9D819 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020286
AA Change: D163E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020286
Gene: ENSMUSG00000020089
AA Change: D163E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyrophosphatase
|
46 |
228 |
2.3e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162028
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,780,847 (GRCm39) |
|
probably benign |
Het |
| Aldh6a1 |
T |
C |
12: 84,480,746 (GRCm39) |
T430A |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,810,298 (GRCm39) |
D426G |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,639,540 (GRCm39) |
S280P |
possibly damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,535 (GRCm39) |
L416P |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,803,594 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
T |
C |
1: 45,431,971 (GRCm39) |
|
probably null |
Het |
| Ctsa |
A |
G |
2: 164,680,565 (GRCm39) |
Y402C |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,481 (GRCm39) |
V223A |
possibly damaging |
Het |
| Dnajb3 |
G |
T |
1: 88,133,032 (GRCm39) |
N123K |
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,684,931 (GRCm39) |
N469K |
probably damaging |
Het |
| Fmo3 |
G |
T |
1: 162,781,856 (GRCm39) |
T499K |
possibly damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,645 (GRCm39) |
C109Y |
probably benign |
Het |
| Lrrc27 |
G |
T |
7: 138,805,977 (GRCm39) |
R214L |
probably benign |
Het |
| Mc5r |
T |
A |
18: 68,472,597 (GRCm39) |
C319S |
probably damaging |
Het |
| Nwd2 |
A |
C |
5: 63,962,570 (GRCm39) |
Y718S |
probably damaging |
Het |
| Or8h7 |
T |
G |
2: 86,721,339 (GRCm39) |
Y60S |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,259,468 (GRCm39) |
G303W |
probably damaging |
Het |
| Rnf182 |
T |
C |
13: 43,821,779 (GRCm39) |
L110P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,045,074 (GRCm39) |
F659S |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,593 (GRCm39) |
Y217N |
possibly damaging |
Het |
| Ttc41 |
G |
T |
10: 86,596,778 (GRCm39) |
E1008* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,564,860 (GRCm39) |
M849T |
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,878,071 (GRCm39) |
I442N |
probably benign |
Het |
|
| Other mutations in Ppa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01937:Ppa1
|
APN |
10 |
61,501,215 (GRCm39) |
missense |
probably benign |
0.12 |
|
hotpot
|
UTSW |
10 |
61,502,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Ppa1
|
UTSW |
10 |
61,502,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Ppa1
|
UTSW |
10 |
61,501,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1925:Ppa1
|
UTSW |
10 |
61,487,388 (GRCm39) |
nonsense |
probably null |
|
|
R2283:Ppa1
|
UTSW |
10 |
61,496,788 (GRCm39) |
nonsense |
probably null |
|
|
R2394:Ppa1
|
UTSW |
10 |
61,508,163 (GRCm39) |
splice site |
probably benign |
|
|
R6180:Ppa1
|
UTSW |
10 |
61,503,431 (GRCm39) |
missense |
probably benign |
|
|
R6823:Ppa1
|
UTSW |
10 |
61,503,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6893:Ppa1
|
UTSW |
10 |
61,508,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6999:Ppa1
|
UTSW |
10 |
61,496,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Ppa1
|
UTSW |
10 |
61,502,691 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8427:Ppa1
|
UTSW |
10 |
61,496,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8743:Ppa1
|
UTSW |
10 |
61,496,758 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9159:Ppa1
|
UTSW |
10 |
61,496,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Ppa1
|
UTSW |
10 |
61,484,562 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9776:Ppa1
|
UTSW |
10 |
61,487,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation