Incidental Mutation 'IGL03180:Papss1'
| ID |
412190 |
| 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 # |
IGL03180
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
131270626-131349432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 131313143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 386
(R386W)
|
| 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: R386W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: R386W
| 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 |
noncoding transcript
Transcript: ENSMUST00000198636
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199878
AA Change: R365W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: R365W
| 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: R365W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: R365W
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,082,951 (GRCm39) |
Y321H |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,874,883 (GRCm39) |
I265L |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,655,799 (GRCm39) |
D560G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,574,743 (GRCm39) |
M79T |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,602,895 (GRCm39) |
|
probably null |
Het |
| Aspn |
C |
T |
13: 49,716,991 (GRCm39) |
R256W |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,226 (GRCm39) |
V4051A |
probably benign |
Het |
| Cfap46 |
G |
A |
7: 139,183,168 (GRCm39) |
L2584F |
unknown |
Het |
| Chdh |
T |
A |
14: 29,756,559 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,433,255 (GRCm39) |
T245A |
probably benign |
Het |
| Clec4a1 |
G |
A |
6: 122,901,777 (GRCm39) |
V70I |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,157 (GRCm39) |
S536T |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,777,465 (GRCm39) |
H3694Q |
probably damaging |
Het |
| Dntt |
T |
A |
19: 41,017,990 (GRCm39) |
F38Y |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,182,485 (GRCm39) |
S706G |
probably benign |
Het |
| Eif4ebp2 |
T |
C |
10: 61,269,589 (GRCm39) |
E117G |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,075,350 (GRCm39) |
I609T |
probably damaging |
Het |
| Esam |
G |
A |
9: 37,445,866 (GRCm39) |
G135S |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,465 (GRCm39) |
A241D |
possibly damaging |
Het |
| Grin2d |
T |
A |
7: 45,502,753 (GRCm39) |
K706M |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,762,742 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,220,087 (GRCm39) |
T22A |
probably damaging |
Het |
| Hadh |
T |
C |
3: 131,065,533 (GRCm39) |
I42V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,467 (GRCm39) |
|
probably benign |
Het |
| Izumo3 |
G |
A |
4: 92,034,524 (GRCm39) |
|
probably benign |
Het |
| Ldlrad1 |
G |
T |
4: 107,075,032 (GRCm39) |
C193F |
probably damaging |
Het |
| Lgals4 |
G |
A |
7: 28,537,053 (GRCm39) |
G118R |
probably damaging |
Het |
| Map4k1 |
A |
C |
7: 28,687,510 (GRCm39) |
E136A |
probably damaging |
Het |
| Mapk8ip1 |
G |
T |
2: 92,217,257 (GRCm39) |
P346Q |
possibly damaging |
Het |
| Mrtfb |
A |
G |
16: 13,216,196 (GRCm39) |
K303E |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,833 (GRCm39) |
H343Q |
probably benign |
Het |
| Ogg1 |
T |
G |
6: 113,310,455 (GRCm39) |
|
probably null |
Het |
| Or12k8 |
C |
T |
2: 36,975,722 (GRCm39) |
V13M |
possibly damaging |
Het |
| Or5m10 |
A |
T |
2: 85,717,740 (GRCm39) |
M199L |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,071,089 (GRCm39) |
V82F |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,574,344 (GRCm39) |
C281S |
possibly damaging |
Het |
| Pex5 |
A |
G |
6: 124,390,522 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
C |
A |
14: 99,370,780 (GRCm39) |
Q261K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,933,521 (GRCm39) |
S935G |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,601 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
G |
A |
13: 48,739,553 (GRCm39) |
T626I |
probably damaging |
Het |
| Rab34 |
A |
T |
11: 78,081,144 (GRCm39) |
Y87F |
probably damaging |
Het |
| Rsrc1 |
T |
G |
3: 66,989,876 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,583,449 (GRCm39) |
N4735S |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,578 (GRCm39) |
D1437G |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,071,497 (GRCm39) |
E1229G |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,584,151 (GRCm39) |
V806D |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,759,401 (GRCm39) |
|
probably null |
Het |
| Sla |
A |
G |
15: 66,661,569 (GRCm39) |
I121T |
probably benign |
Het |
| Son |
T |
C |
16: 91,453,896 (GRCm39) |
L881S |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,573 (GRCm39) |
|
probably benign |
Het |
| Stoml1 |
T |
C |
9: 58,168,200 (GRCm39) |
S304P |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,670,552 (GRCm39) |
D73G |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Trp53i13 |
T |
C |
11: 77,403,528 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,843 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,205,764 (GRCm39) |
D261G |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,964,790 (GRCm39) |
K293R |
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 |
|
|
IGL02249:Papss1
|
APN |
3 |
131,307,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation