Incidental Mutation 'IGL00975:Pudp'
ID |
29455 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pudp
|
Ensembl Gene |
ENSMUSG00000048875 |
Gene Name |
pseudouridine 5'-phosphatase |
Synonyms |
Hdhd1a, GS1, 1700121L12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00975
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
50700727-50701770 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 50701349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 128
(K128T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056460]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056460
AA Change: K128T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057378 Gene: ENSMUSG00000048875 AA Change: K128T
Domain | Start | End | E-Value | Type |
Pfam:Hydrolase
|
13 |
193 |
3.2e-15 |
PFAM |
Pfam:HAD_2
|
16 |
199 |
5.6e-21 |
PFAM |
|
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 haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
|
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1)
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn10 |
A |
T |
15: 85,220,666 (GRCm39) |
M1L |
probably benign |
Het |
Atxn7l3 |
A |
G |
11: 102,185,807 (GRCm39) |
S3P |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,325,012 (GRCm39) |
D70G |
probably damaging |
Het |
Col20a1 |
G |
A |
2: 180,634,271 (GRCm39) |
A79T |
probably damaging |
Het |
Cycs |
T |
A |
6: 50,542,347 (GRCm39) |
D63V |
probably benign |
Het |
Dis3 |
A |
G |
14: 99,316,670 (GRCm39) |
V855A |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,150,373 (GRCm39) |
I797F |
possibly damaging |
Het |
Dpagt1 |
T |
C |
9: 44,243,949 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,227,393 (GRCm39) |
I1840T |
possibly damaging |
Het |
Epb41l3 |
C |
T |
17: 69,514,856 (GRCm39) |
|
probably benign |
Het |
Fam20c |
C |
T |
5: 138,794,912 (GRCm39) |
H514Y |
probably benign |
Het |
Fgd6 |
A |
T |
10: 93,969,938 (GRCm39) |
M1196L |
probably damaging |
Het |
Fmo3 |
T |
C |
1: 162,791,599 (GRCm39) |
D226G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,682,187 (GRCm39) |
L263P |
probably damaging |
Het |
Gaa |
C |
A |
11: 119,165,509 (GRCm39) |
T333K |
possibly damaging |
Het |
Gm10530 |
T |
C |
1: 159,512,444 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
A |
G |
14: 19,649,735 (GRCm39) |
L163P |
|
Het |
Inpp5j |
T |
C |
11: 3,452,176 (GRCm39) |
N358S |
probably damaging |
Het |
Ms4a8a |
A |
G |
19: 11,048,151 (GRCm39) |
L193P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,102,740 (GRCm39) |
K4511R |
probably benign |
Het |
Odad1 |
A |
T |
7: 45,592,080 (GRCm39) |
K320I |
probably damaging |
Het |
Or5an10 |
A |
G |
19: 12,276,149 (GRCm39) |
S116P |
probably damaging |
Het |
Pcca |
A |
G |
14: 123,114,312 (GRCm39) |
D82G |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,048,679 (GRCm39) |
T266A |
probably benign |
Het |
Ppp1r26 |
T |
A |
2: 28,343,730 (GRCm39) |
L1120Q |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,225,174 (GRCm39) |
T94A |
possibly damaging |
Het |
Six5 |
T |
C |
7: 18,831,603 (GRCm39) |
L698P |
probably damaging |
Het |
Slc13a4 |
T |
A |
6: 35,251,910 (GRCm39) |
M461L |
probably benign |
Het |
Slc30a9 |
T |
C |
5: 67,507,169 (GRCm39) |
V487A |
probably damaging |
Het |
Tbx21 |
T |
C |
11: 96,990,908 (GRCm39) |
I257V |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,553,731 (GRCm39) |
D382G |
probably benign |
Het |
Trim34b |
C |
A |
7: 103,978,859 (GRCm39) |
C35* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,692,577 (GRCm39) |
D1013G |
probably damaging |
Het |
|
Other mutations in Pudp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02735:Pudp
|
APN |
18 |
50,701,403 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03178:Pudp
|
APN |
18 |
50,701,472 (GRCm39) |
missense |
probably benign |
0.23 |
F5426:Pudp
|
UTSW |
18 |
50,701,612 (GRCm39) |
missense |
probably benign |
0.00 |
R1914:Pudp
|
UTSW |
18 |
50,701,278 (GRCm39) |
missense |
probably benign |
0.06 |
R1915:Pudp
|
UTSW |
18 |
50,701,278 (GRCm39) |
missense |
probably benign |
0.06 |
R2338:Pudp
|
UTSW |
18 |
50,701,646 (GRCm39) |
missense |
probably benign |
0.01 |
R3856:Pudp
|
UTSW |
18 |
50,701,124 (GRCm39) |
missense |
probably benign |
0.34 |
R4067:Pudp
|
UTSW |
18 |
50,701,329 (GRCm39) |
missense |
probably benign |
0.06 |
R4649:Pudp
|
UTSW |
18 |
50,701,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4783:Pudp
|
UTSW |
18 |
50,701,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4784:Pudp
|
UTSW |
18 |
50,701,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4785:Pudp
|
UTSW |
18 |
50,701,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Pudp
|
UTSW |
18 |
50,701,539 (GRCm39) |
missense |
probably benign |
0.00 |
R6075:Pudp
|
UTSW |
18 |
50,701,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R6430:Pudp
|
UTSW |
18 |
50,701,307 (GRCm39) |
missense |
probably benign |
0.33 |
R7285:Pudp
|
UTSW |
18 |
50,701,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7592:Pudp
|
UTSW |
18 |
50,701,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R8012:Pudp
|
UTSW |
18 |
50,701,310 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9304:Pudp
|
UTSW |
18 |
50,701,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |