Incidental Mutation 'IGL02249:Papss1'
| ID |
286308 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Papss1
|
| Ensembl Gene |
ENSMUSG00000028032 |
| Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 1 |
| Synonyms |
Asapk, SK1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
IGL02249
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
131270626-131349432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131307772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 274
(W274R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029666]
[ENSMUST00000197402]
[ENSMUST00000199878]
[ENSMUST00000200527]
|
| AlphaFold |
Q60967 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029666
AA Change: W274R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: W274R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APS_kinase
|
51 |
209 |
5.6e-78 |
PFAM |
|
Pfam:AAA_17
|
54 |
184 |
1.7e-7 |
PFAM |
|
Pfam:AAA_33
|
55 |
182 |
4.4e-9 |
PFAM |
|
Pfam:PUA_2
|
225 |
386 |
3.3e-51 |
PFAM |
|
Pfam:ATP-sulfurylase
|
394 |
617 |
7.8e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197402
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199878
AA Change: W253R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: W253R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APS_kinase
|
30 |
188 |
4.5e-75 |
PFAM |
|
Pfam:AAA_33
|
33 |
169 |
8.5e-10 |
PFAM |
|
Pfam:AAA_17
|
33 |
180 |
6.1e-6 |
PFAM |
|
Pfam:PUA_2
|
204 |
365 |
2.7e-47 |
PFAM |
|
Pfam:ATP-sulfurylase
|
372 |
597 |
6.6e-70 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200527
AA Change: W253R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: W253R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APS_kinase
|
30 |
188 |
4.5e-75 |
PFAM |
|
Pfam:AAA_33
|
33 |
169 |
8.5e-10 |
PFAM |
|
Pfam:AAA_17
|
33 |
180 |
6.1e-6 |
PFAM |
|
Pfam:PUA_2
|
204 |
365 |
2.7e-47 |
PFAM |
|
Pfam:ATP-sulfurylase
|
372 |
597 |
6.6e-70 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
A |
1: 53,224,431 (GRCm39) |
K23* |
probably null |
Het |
| Abca1 |
A |
T |
4: 53,068,739 (GRCm39) |
L1333* |
probably null |
Het |
| Adcy6 |
C |
A |
15: 98,497,795 (GRCm39) |
M452I |
probably damaging |
Het |
| Adsl |
G |
A |
15: 80,844,676 (GRCm39) |
R173H |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,718,200 (GRCm39) |
T484A |
probably damaging |
Het |
| Apol10a |
A |
G |
15: 77,372,709 (GRCm39) |
D115G |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,828 (GRCm39) |
S529P |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,083,484 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
A |
6: 18,277,870 (GRCm39) |
I956N |
possibly damaging |
Het |
| Cwc15 |
A |
G |
9: 14,414,977 (GRCm39) |
T110A |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,594,361 (GRCm39) |
I497F |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,766,967 (GRCm39) |
D69G |
possibly damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,742,564 (GRCm39) |
S307R |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,532,961 (GRCm39) |
G843R |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,858,829 (GRCm39) |
Y123F |
probably benign |
Het |
| Hal |
G |
A |
10: 93,333,400 (GRCm39) |
A323T |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,166,396 (GRCm39) |
F47L |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,367 (GRCm39) |
N96Y |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,623 (GRCm39) |
I283M |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,251 (GRCm39) |
M928L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,930,847 (GRCm39) |
V607D |
probably damaging |
Het |
| Ndufaf2 |
A |
G |
13: 108,217,925 (GRCm39) |
W74R |
probably damaging |
Het |
| Noc4l |
C |
A |
5: 110,801,081 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,309,573 (GRCm39) |
I295F |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,171,962 (GRCm39) |
V83I |
probably damaging |
Het |
| Prmt5 |
C |
T |
14: 54,747,322 (GRCm39) |
R485H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,418,220 (GRCm39) |
Y1719H |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,315,900 (GRCm39) |
I2207F |
possibly damaging |
Het |
| Rock2 |
T |
A |
12: 17,021,042 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,867,961 (GRCm39) |
R124H |
probably damaging |
Het |
| Serpina1e |
G |
A |
12: 103,917,393 (GRCm39) |
T92M |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,768,667 (GRCm39) |
L83P |
probably benign |
Het |
| Tm9sf2 |
C |
T |
14: 122,361,162 (GRCm39) |
S68L |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,297,235 (GRCm39) |
T206A |
probably damaging |
Het |
| Tmem207 |
A |
T |
16: 26,336,617 (GRCm39) |
Y46N |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,703 (GRCm39) |
L429P |
probably damaging |
Het |
|
| Other mutations in Papss1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Papss1
|
APN |
3 |
131,305,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01642:Papss1
|
APN |
3 |
131,288,996 (GRCm39) |
splice site |
probably benign |
|
|
IGL02832:Papss1
|
APN |
3 |
131,288,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Papss1
|
APN |
3 |
131,290,860 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03180:Papss1
|
APN |
3 |
131,313,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Papss1
|
APN |
3 |
131,288,950 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03384:Papss1
|
APN |
3 |
131,285,113 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0549:Papss1
|
UTSW |
3 |
131,324,974 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0685:Papss1
|
UTSW |
3 |
131,288,854 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0800:Papss1
|
UTSW |
3 |
131,305,615 (GRCm39) |
splice site |
probably benign |
|
|
R1225:Papss1
|
UTSW |
3 |
131,285,062 (GRCm39) |
splice site |
probably benign |
|
|
R1458:Papss1
|
UTSW |
3 |
131,311,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Papss1
|
UTSW |
3 |
131,324,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Papss1
|
UTSW |
3 |
131,311,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Papss1
|
UTSW |
3 |
131,311,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1862:Papss1
|
UTSW |
3 |
131,288,945 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1937:Papss1
|
UTSW |
3 |
131,305,632 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2349:Papss1
|
UTSW |
3 |
131,305,627 (GRCm39) |
missense |
probably benign |
|
|
R3859:Papss1
|
UTSW |
3 |
131,313,096 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4698:Papss1
|
UTSW |
3 |
131,313,092 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4741:Papss1
|
UTSW |
3 |
131,324,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5333:Papss1
|
UTSW |
3 |
131,348,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Papss1
|
UTSW |
3 |
131,337,565 (GRCm39) |
nonsense |
probably null |
|
|
R6658:Papss1
|
UTSW |
3 |
131,311,696 (GRCm39) |
missense |
probably benign |
|
|
R6932:Papss1
|
UTSW |
3 |
131,305,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Papss1
|
UTSW |
3 |
131,307,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Papss1
|
UTSW |
3 |
131,290,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7201:Papss1
|
UTSW |
3 |
131,305,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Papss1
|
UTSW |
3 |
131,324,995 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7575:Papss1
|
UTSW |
3 |
131,348,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7627:Papss1
|
UTSW |
3 |
131,290,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8325:Papss1
|
UTSW |
3 |
131,288,372 (GRCm39) |
missense |
probably benign |
|
|
R8380:Papss1
|
UTSW |
3 |
131,337,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Papss1
|
UTSW |
3 |
131,324,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Papss1
|
UTSW |
3 |
131,324,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9425:Papss1
|
UTSW |
3 |
131,270,708 (GRCm39) |
nonsense |
probably null |
|
|
R9469:Papss1
|
UTSW |
3 |
131,288,959 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1088:Papss1
|
UTSW |
3 |
131,348,728 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2015-04-16 |
Incidental Mutation