Incidental Mutation 'R8380:Papss1'
| ID |
646900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papss1
|
| Ensembl Gene |
ENSMUSG00000028032 |
| Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 1 |
| Synonyms |
Asapk, SK1 |
| MMRRC Submission |
067747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R8380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
131270626-131349432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 131337456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 539
(P539L)
|
| 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: P539L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: P539L
| 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: P518L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: P518L
| 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: P518L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: P518L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,275,006 (GRCm39) |
V576I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,995,219 (GRCm39) |
V5501A |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,250,467 (GRCm39) |
T426A |
probably benign |
Het |
| Armc7 |
G |
T |
11: 115,366,726 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,042 (GRCm39) |
E239G |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,191 (GRCm39) |
D171G |
probably benign |
Het |
| Cenpc1 |
C |
A |
5: 86,194,275 (GRCm39) |
A164S |
probably benign |
Het |
| Cep131 |
T |
A |
11: 119,967,854 (GRCm39) |
R134W |
probably damaging |
Het |
| Chek1 |
T |
A |
9: 36,623,408 (GRCm39) |
N422I |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,531,651 (GRCm39) |
E718G |
probably damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,175,669 (GRCm39) |
C13Y |
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,697,411 (GRCm39) |
T52M |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,327,073 (GRCm39) |
R674L |
probably benign |
Het |
| Lrrc36 |
T |
A |
8: 106,153,460 (GRCm39) |
V90E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,087,823 (GRCm39) |
Y5459H |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,877,489 (GRCm39) |
M484K |
probably damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,232 (GRCm39) |
N171Y |
possibly damaging |
Het |
| Or10q1b |
T |
C |
19: 13,682,608 (GRCm39) |
I139T |
probably benign |
Het |
| Or11g26 |
T |
C |
14: 50,753,297 (GRCm39) |
V212A |
probably benign |
Het |
| Pdlim3 |
A |
T |
8: 46,370,572 (GRCm39) |
M243L |
probably benign |
Het |
| Pls1 |
G |
A |
9: 95,657,438 (GRCm39) |
H303Y |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,135,619 (GRCm39) |
T328A |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Scaf4 |
A |
G |
16: 90,057,133 (GRCm39) |
S73P |
unknown |
Het |
| Snrpa |
G |
T |
7: 26,886,713 (GRCm39) |
Q261K |
possibly damaging |
Het |
| Top1 |
A |
G |
2: 160,559,315 (GRCm39) |
N613D |
probably benign |
Het |
| Vill |
A |
G |
9: 118,886,917 (GRCm39) |
T21A |
probably benign |
Het |
| Wdr1 |
C |
G |
5: 38,697,864 (GRCm39) |
D234H |
possibly 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 |
|
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 |
|
|
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'- GAGGCATATGTGGAGGTACC -3'
(R):5'- CTTAGAAACAGCTCGGGCAG -3'
Sequencing Primer
(F):5'- TACCGCTCAGTGGGACAGTTG -3'
(R):5'- AGCAAAGCTTCTGTCGGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation