Incidental Mutation 'IGL01861:Prune1'
| ID |
178325 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prune1
|
| Ensembl Gene |
ENSMUSG00000015711 |
| Gene Name |
prune exopolyphosphatase |
| Synonyms |
Prune, 9230112O05Rik, Prune-M1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95160985-95189387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95172868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 66
(R66S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015855]
|
| AlphaFold |
Q8BIW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015855
AA Change: R66S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711
AA Change: R66S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHH
|
19 |
181 |
2.5e-10 |
PFAM |
|
DHHA2
|
215 |
359 |
1.88e-33 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148959
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a flattened pancake appearance at E9. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc5 |
T |
C |
17: 56,607,144 (GRCm39) |
T34A |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,405,912 (GRCm39) |
R1252L |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,640,888 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,256 (GRCm39) |
V2944A |
probably damaging |
Het |
| Cntnap3 |
C |
T |
13: 64,946,922 (GRCm39) |
G169D |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,679,508 (GRCm39) |
T326S |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,623,608 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,614,242 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,057,808 (GRCm39) |
S906P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,910 (GRCm39) |
Y1099C |
probably damaging |
Het |
| Gpr63 |
C |
T |
4: 25,008,545 (GRCm39) |
T423M |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,241,393 (GRCm39) |
Y339* |
probably null |
Het |
| Lingo2 |
A |
T |
4: 35,709,526 (GRCm39) |
D151E |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,565 (GRCm39) |
Q215L |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,317,185 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
A |
G |
19: 4,058,803 (GRCm39) |
V235A |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,055,046 (GRCm39) |
I205T |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,581,403 (GRCm39) |
N22K |
possibly damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,095,587 (GRCm39) |
I291N |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,259,441 (GRCm39) |
I294V |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,597,675 (GRCm39) |
V471M |
probably damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,748 (GRCm39) |
Q47K |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,417,021 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,124,457 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
A |
G |
5: 86,244,383 (GRCm39) |
I217V |
possibly damaging |
Het |
| Taf1d |
T |
C |
9: 15,220,035 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,284,658 (GRCm39) |
H809R |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,060,717 (GRCm39) |
N49S |
probably damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,374 (GRCm39) |
|
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,063,804 (GRCm39) |
Y589C |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,973,742 (GRCm39) |
T4S |
possibly damaging |
Het |
| Zfp687 |
A |
T |
3: 94,919,171 (GRCm39) |
F200L |
probably damaging |
Het |
|
| Other mutations in Prune1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:Prune1
|
APN |
3 |
95,166,548 (GRCm39) |
splice site |
probably benign |
|
|
IGL02659:Prune1
|
APN |
3 |
95,162,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0039:Prune1
|
UTSW |
3 |
95,169,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Prune1
|
UTSW |
3 |
95,169,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1791:Prune1
|
UTSW |
3 |
95,175,553 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2072:Prune1
|
UTSW |
3 |
95,162,719 (GRCm39) |
missense |
probably benign |
|
|
R2513:Prune1
|
UTSW |
3 |
95,165,430 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3814:Prune1
|
UTSW |
3 |
95,172,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Prune1
|
UTSW |
3 |
95,169,542 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4455:Prune1
|
UTSW |
3 |
95,189,207 (GRCm39) |
splice site |
probably null |
|
|
R4589:Prune1
|
UTSW |
3 |
95,169,642 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5664:Prune1
|
UTSW |
3 |
95,165,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Prune1
|
UTSW |
3 |
95,169,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6773:Prune1
|
UTSW |
3 |
95,171,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Prune1
|
UTSW |
3 |
95,162,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Prune1
|
UTSW |
3 |
95,189,021 (GRCm39) |
unclassified |
probably benign |
|
|
R7635:Prune1
|
UTSW |
3 |
95,162,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8367:Prune1
|
UTSW |
3 |
95,172,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9000:Prune1
|
UTSW |
3 |
95,162,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Prune1
|
UTSW |
3 |
95,162,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-05-07 |
Incidental Mutation