Incidental Mutation 'IGL01516:Paics'
| ID |
90407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Paics
|
| Ensembl Gene |
ENSMUSG00000029247 |
| Gene Name |
phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase |
| Synonyms |
PAIS, ADE2H1, AIRC, 2610511I09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
77099154-77115356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77104578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 68
(L68I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031160]
[ENSMUST00000117536]
[ENSMUST00000120912]
[ENSMUST00000141687]
[ENSMUST00000153648]
|
| AlphaFold |
Q9DCL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031160
AA Change: L68I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031160
Gene: ENSMUSG00000029247
AA Change: L68I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAICAR_synt
|
9 |
253 |
4.8e-81 |
PFAM |
|
AIRC
|
266 |
413 |
8.36e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117536
AA Change: L68I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112879
Gene: ENSMUSG00000029247
AA Change: L68I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAICAR_synt
|
9 |
253 |
4.8e-81 |
PFAM |
|
AIRC
|
266 |
413 |
8.36e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120912
AA Change: L68I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113483
Gene: ENSMUSG00000029247
AA Change: L68I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAICAR_synt
|
11 |
248 |
4e-56 |
PFAM |
|
AIRC
|
266 |
413 |
8.36e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140051
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141687
AA Change: L68I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117027
Gene: ENSMUSG00000029247
AA Change: L68I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAICAR_synt
|
9 |
83 |
9.6e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153648
AA Change: L68I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123558
Gene: ENSMUSG00000029247
AA Change: L68I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAICAR_synt
|
9 |
94 |
9.6e-20 |
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 bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
| Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
| Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
| Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
| Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
| Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
| Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
| Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
| Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
| Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
| Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
| Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
probably benign |
Het |
|
| Other mutations in Paics |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Paics
|
APN |
5 |
77,109,357 (GRCm39) |
splice site |
probably benign |
|
|
IGL01689:Paics
|
APN |
5 |
77,109,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02559:Paics
|
APN |
5 |
77,112,451 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02814:Paics
|
APN |
5 |
77,110,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03093:Paics
|
APN |
5 |
77,109,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02980:Paics
|
UTSW |
5 |
77,114,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
LCD18:Paics
|
UTSW |
5 |
76,956,744 (GRCm38) |
frame shift |
probably null |
|
|
R2179:Paics
|
UTSW |
5 |
77,109,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Paics
|
UTSW |
5 |
77,104,450 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4926:Paics
|
UTSW |
5 |
77,109,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Paics
|
UTSW |
5 |
77,104,669 (GRCm39) |
intron |
probably benign |
|
|
R5308:Paics
|
UTSW |
5 |
77,104,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Paics
|
UTSW |
5 |
77,107,276 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8300:Paics
|
UTSW |
5 |
77,109,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Paics
|
UTSW |
5 |
77,112,437 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2013-12-09 |
Incidental Mutation