Incidental Mutation 'R2349:Papss1'
| ID |
247383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papss1
|
| Ensembl Gene |
ENSMUSG00000028032 |
| Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 1 |
| Synonyms |
Asapk, SK1 |
| MMRRC Submission |
040331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R2349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
131270626-131349432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131305627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 203
(D203G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029666]
[ENSMUST00000197402]
[ENSMUST00000199878]
[ENSMUST00000200527]
|
| AlphaFold |
Q60967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029666
AA Change: D224G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: D224G
| 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 benign
Transcript: ENSMUST00000199878
AA Change: D203G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: D203G
| 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 benign
Transcript: ENSMUST00000200527
AA Change: D203G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: D203G
| 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 |
|
| Meta Mutation Damage Score |
0.1248 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
| Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
| Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
| Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
| Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
| Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
| Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
| Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGTTCTGACACAGAGTAG -3'
(R):5'- TCATGCTAACAGCTCCACAGG -3'
Sequencing Primer
(F):5'- ATTCCTTCCCACTAGATCATGGAAC -3'
(R):5'- TCCACAGGAGGCTGCGTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation