Incidental Mutation 'IGL02545:Ppat'
| ID |
297800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppat
|
| Ensembl Gene |
ENSMUSG00000029246 |
| Gene Name |
phosphoribosyl pyrophosphate amidotransferase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL02545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
76913249-76951578 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76915232 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 511
(Y511H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140076]
[ENSMUST00000155272]
|
| AlphaFold |
Q8CIH9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031158
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140076
AA Change: Y511H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
AA Change: Y511H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_4
|
27 |
218 |
4e-11 |
PFAM |
|
Pfam:GATase_6
|
74 |
216 |
1.6e-18 |
PFAM |
|
Pfam:GATase_7
|
91 |
241 |
1.6e-16 |
PFAM |
|
Pfam:Pribosyltran
|
309 |
420 |
1.3e-9 |
PFAM |
|
low complexity region
|
474 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155272
|
| SMART Domains |
Protein: ENSMUSP00000116438
Gene: ENSMUSG00000029246
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ecfa2
|
12 |
43 |
6e-3 |
SMART |
|
| 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 purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 160,075,424 (GRCm38) |
L88P |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,683,374 (GRCm38) |
Q354* |
probably null |
Het |
| Aox3 |
A |
C |
1: 58,183,486 (GRCm38) |
D1146A |
probably damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,906,426 (GRCm38) |
H340L |
probably damaging |
Het |
| Ccni |
G |
T |
5: 93,187,777 (GRCm38) |
F167L |
probably benign |
Het |
| Ctcf |
A |
G |
8: 105,664,381 (GRCm38) |
T207A |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,689,933 (GRCm38) |
H580R |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 107,062,072 (GRCm38) |
L159Q |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,262,751 (GRCm38) |
I630T |
possibly damaging |
Het |
| Fchsd2 |
A |
G |
7: 101,198,508 (GRCm38) |
T202A |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,557,009 (GRCm38) |
Y214C |
probably damaging |
Het |
| Gna14 |
T |
A |
19: 16,533,726 (GRCm38) |
S46R |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 106,895,287 (GRCm38) |
I627T |
probably damaging |
Het |
| Ighv1-19 |
G |
A |
12: 114,708,739 (GRCm38) |
A87V |
probably damaging |
Het |
| Itch |
G |
A |
2: 155,172,586 (GRCm38) |
|
probably null |
Het |
| Klrb1b |
T |
C |
6: 128,820,309 (GRCm38) |
Q72R |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 84,775,425 (GRCm38) |
F144L |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 158,185,374 (GRCm38) |
|
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 56,721,338 (GRCm38) |
F72L |
probably damaging |
Het |
| Neu1 |
T |
A |
17: 34,931,501 (GRCm38) |
V32E |
probably benign |
Het |
| Olfr181 |
T |
A |
16: 58,926,470 (GRCm38) |
I34F |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,823,579 (GRCm38) |
K611E |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,468,844 (GRCm38) |
V340A |
possibly damaging |
Het |
| Pih1d3 |
A |
G |
1: 31,223,096 (GRCm38) |
D53G |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,786,690 (GRCm38) |
|
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,583,425 (GRCm38) |
W210* |
probably null |
Het |
| Psme4 |
T |
G |
11: 30,841,586 (GRCm38) |
V1147G |
possibly damaging |
Het |
| Scap |
C |
T |
9: 110,378,690 (GRCm38) |
T489I |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,607,980 (GRCm38) |
|
probably null |
Het |
| Tcl1b5 |
T |
A |
12: 105,180,037 (GRCm38) |
|
probably benign |
Het |
| Trim54 |
T |
A |
5: 31,132,165 (GRCm38) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,481,075 (GRCm38) |
R2143Q |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,196,114 (GRCm38) |
V168D |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 85,006,590 (GRCm38) |
M406K |
possibly damaging |
Het |
|
| Other mutations in Ppat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02679:Ppat
|
APN |
5 |
76,919,469 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0836:Ppat
|
UTSW |
5 |
76,922,501 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2327:Ppat
|
UTSW |
5 |
76,922,467 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2850:Ppat
|
UTSW |
5 |
76,919,375 (GRCm38) |
missense |
probably benign |
|
|
R3434:Ppat
|
UTSW |
5 |
76,918,065 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4301:Ppat
|
UTSW |
5 |
76,928,501 (GRCm38) |
intron |
probably benign |
|
|
R4422:Ppat
|
UTSW |
5 |
76,915,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4423:Ppat
|
UTSW |
5 |
76,915,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4424:Ppat
|
UTSW |
5 |
76,915,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4839:Ppat
|
UTSW |
5 |
76,950,964 (GRCm38) |
nonsense |
probably null |
|
|
R4872:Ppat
|
UTSW |
5 |
76,926,793 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5007:Ppat
|
UTSW |
5 |
76,928,678 (GRCm38) |
intron |
probably benign |
|
|
R5010:Ppat
|
UTSW |
5 |
76,928,678 (GRCm38) |
intron |
probably benign |
|
|
R5325:Ppat
|
UTSW |
5 |
76,928,422 (GRCm38) |
intron |
probably benign |
|
|
R5982:Ppat
|
UTSW |
5 |
76,915,265 (GRCm38) |
missense |
probably benign |
|
|
R6209:Ppat
|
UTSW |
5 |
76,918,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6225:Ppat
|
UTSW |
5 |
76,922,355 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6287:Ppat
|
UTSW |
5 |
76,918,214 (GRCm38) |
nonsense |
probably null |
|
|
R7367:Ppat
|
UTSW |
5 |
76,919,864 (GRCm38) |
nonsense |
probably null |
|
|
R7426:Ppat
|
UTSW |
5 |
76,915,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7945:Ppat
|
UTSW |
5 |
76,915,391 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8047:Ppat
|
UTSW |
5 |
76,925,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9343:Ppat
|
UTSW |
5 |
76,916,037 (GRCm38) |
missense |
probably benign |
0.32 |
|
| Posted On |
2015-04-16 |
Incidental Mutation