Incidental Mutation 'R0800:Papss1'
ID |
76224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Papss1
|
Ensembl Gene |
ENSMUSG00000028032 |
Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 1 |
Synonyms |
Asapk, SK1 |
MMRRC Submission |
038980-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.769)
|
Stock # |
R0800 (G1)
|
Quality Score |
211 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
131270626-131349432 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 131305615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000029666 Gene: ENSMUSG00000028032
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
|
SMART Domains |
Protein: ENSMUSP00000142533 Gene: ENSMUSG00000028032
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
|
SMART Domains |
Protein: ENSMUSP00000142616 Gene: ENSMUSG00000028032
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: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
Validation Efficiency |
98% (52/53) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B230217C12Rik |
T |
C |
11: 97,732,086 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,317,265 (GRCm39) |
D1498G |
probably damaging |
Het |
Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,440,614 (GRCm39) |
Y158C |
probably damaging |
Het |
Cic |
A |
G |
7: 24,984,662 (GRCm39) |
T1033A |
probably benign |
Het |
Cst13 |
A |
T |
2: 148,672,247 (GRCm39) |
I141F |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,604,855 (GRCm39) |
L1301P |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,923,636 (GRCm39) |
F1201L |
probably benign |
Het |
Dok7 |
T |
C |
5: 35,232,633 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,774,171 (GRCm39) |
|
probably benign |
Het |
Eml6 |
A |
G |
11: 29,699,877 (GRCm39) |
V1753A |
probably benign |
Het |
Fer1l4 |
A |
G |
2: 155,887,583 (GRCm39) |
F538L |
possibly damaging |
Het |
Fmo2 |
C |
T |
1: 162,704,383 (GRCm39) |
D508N |
probably benign |
Het |
Gabpb1 |
A |
T |
2: 126,472,248 (GRCm39) |
Y351N |
probably damaging |
Het |
Gnaq |
T |
A |
19: 16,312,428 (GRCm39) |
V230E |
probably damaging |
Het |
Gprc5c |
A |
C |
11: 114,757,537 (GRCm39) |
K48Q |
probably damaging |
Het |
Gzmd |
A |
G |
14: 56,369,948 (GRCm39) |
L11P |
unknown |
Het |
Hbq1b |
A |
C |
11: 32,237,581 (GRCm39) |
H123P |
probably damaging |
Het |
Hibadh |
T |
A |
6: 52,533,490 (GRCm39) |
I209F |
probably damaging |
Het |
Il17f |
G |
T |
1: 20,848,177 (GRCm39) |
C100* |
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Itga8 |
A |
T |
2: 12,198,362 (GRCm39) |
V541E |
possibly damaging |
Het |
Kifc5b |
T |
A |
17: 27,142,158 (GRCm39) |
V212D |
probably benign |
Het |
Klra2 |
A |
T |
6: 131,207,137 (GRCm39) |
Y157* |
probably null |
Het |
Kprp |
T |
C |
3: 92,732,342 (GRCm39) |
Y236C |
unknown |
Het |
Mmp12 |
A |
T |
9: 7,357,827 (GRCm39) |
M414L |
possibly damaging |
Het |
Myh6 |
A |
G |
14: 55,190,735 (GRCm39) |
|
probably benign |
Het |
Nlgn2 |
A |
G |
11: 69,716,823 (GRCm39) |
F573L |
possibly damaging |
Het |
Or10j7 |
C |
T |
1: 173,011,627 (GRCm39) |
A125T |
probably damaging |
Het |
Or4c124 |
A |
G |
2: 89,156,008 (GRCm39) |
V172A |
probably benign |
Het |
Pakap |
T |
A |
4: 57,709,650 (GRCm39) |
D198E |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,827,408 (GRCm39) |
T181A |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,646,486 (GRCm39) |
|
probably benign |
Het |
Pla2g12b |
A |
G |
10: 59,239,642 (GRCm39) |
N17S |
probably benign |
Het |
Polr3c |
C |
A |
3: 96,626,627 (GRCm39) |
V266L |
probably damaging |
Het |
Pou3f3 |
A |
G |
1: 42,737,527 (GRCm39) |
T408A |
probably damaging |
Het |
Pskh1 |
A |
G |
8: 106,640,238 (GRCm39) |
Y306C |
probably damaging |
Het |
Rom1 |
T |
A |
19: 8,906,272 (GRCm39) |
D89V |
probably damaging |
Het |
Sell |
T |
A |
1: 163,893,770 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,178,249 (GRCm39) |
|
probably null |
Het |
Speg |
T |
C |
1: 75,400,133 (GRCm39) |
S2527P |
probably damaging |
Het |
Stat3 |
A |
G |
11: 100,784,981 (GRCm39) |
|
probably benign |
Het |
Stra6l |
A |
G |
4: 45,882,797 (GRCm39) |
T503A |
probably benign |
Het |
Tapbp |
A |
G |
17: 34,145,227 (GRCm39) |
T375A |
probably benign |
Het |
Tgm6 |
G |
A |
2: 129,985,342 (GRCm39) |
V382M |
possibly damaging |
Het |
Trappc9 |
A |
T |
15: 72,824,981 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
G |
10: 17,675,240 (GRCm39) |
N131S |
possibly damaging |
Het |
Usp19 |
A |
G |
9: 108,372,353 (GRCm39) |
E469G |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,575,192 (GRCm39) |
|
probably benign |
Het |
Zfp750 |
T |
C |
11: 121,402,838 (GRCm39) |
T637A |
probably benign |
Het |
Zhx2 |
A |
C |
15: 57,686,124 (GRCm39) |
I498L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGATCAGCTCTGTTTACAGTTGC -3'
(R):5'- TACTGCTACCCTGGCTTCAGACAC -3'
Sequencing Primer
(F):5'- ACAGTTGCCTGTTCTGACAC -3'
(R):5'- TGGCTTCAGACACAAGGCTAAG -3'
|
Posted On |
2013-10-16 |