Incidental Mutation 'R4741:Papss1'
| ID |
358066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papss1
|
| Ensembl Gene |
ENSMUSG00000028032 |
| Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 1 |
| Synonyms |
Asapk, SK1 |
| MMRRC Submission |
042026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R4741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
131270626-131349432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131324860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 418
(L418P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029666]
[ENSMUST00000197402]
[ENSMUST00000199878]
[ENSMUST00000200527]
|
| AlphaFold |
Q60967 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029666
AA Change: L439P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: L439P
| 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: L418P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: L418P
| 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: L418P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: L418P
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl2 |
T |
C |
2: 33,136,200 (GRCm39) |
Y462H |
probably benign |
Het |
| Arhgef12 |
A |
G |
9: 42,883,449 (GRCm39) |
I1360T |
possibly damaging |
Het |
| Armc10 |
T |
G |
5: 21,856,834 (GRCm39) |
L111R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,364,907 (GRCm39) |
K2628E |
probably benign |
Het |
| Best3 |
A |
T |
10: 116,859,901 (GRCm39) |
N387I |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,996,524 (GRCm39) |
T1079A |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,036,758 (GRCm39) |
F721S |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,590,271 (GRCm39) |
S1411P |
probably damaging |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Clip2 |
T |
A |
5: 134,545,123 (GRCm39) |
T344S |
probably benign |
Het |
| Csmd1 |
A |
C |
8: 15,960,447 (GRCm39) |
W3323G |
probably damaging |
Het |
| Doc2a |
A |
T |
7: 126,450,617 (GRCm39) |
T298S |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,512,286 (GRCm39) |
N234S |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,055,371 (GRCm39) |
R353C |
probably benign |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,681 (GRCm39) |
H218R |
probably benign |
Het |
| F2rl1 |
G |
A |
13: 95,650,651 (GRCm39) |
T77M |
probably damaging |
Het |
| Fsd2 |
A |
G |
7: 81,201,643 (GRCm39) |
|
probably null |
Het |
| Grin2a |
T |
C |
16: 9,481,376 (GRCm39) |
Y475C |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,461,545 (GRCm39) |
S95T |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,995,464 (GRCm39) |
T160A |
probably benign |
Het |
| Hp |
A |
T |
8: 110,302,104 (GRCm39) |
C281* |
probably null |
Het |
| Ighg1 |
T |
C |
12: 113,290,178 (GRCm39) |
|
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,351,747 (GRCm39) |
I819V |
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,060,718 (GRCm39) |
I737V |
possibly damaging |
Het |
| Krt74 |
C |
T |
15: 101,669,876 (GRCm39) |
|
noncoding transcript |
Het |
| Lnpep |
T |
C |
17: 17,791,920 (GRCm39) |
Y407C |
probably damaging |
Het |
| Lrp4 |
T |
G |
2: 91,341,912 (GRCm39) |
C1842G |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,056,572 (GRCm39) |
N1172K |
probably benign |
Het |
| Npy6r |
A |
T |
18: 44,408,791 (GRCm39) |
T71S |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,163,382 (GRCm39) |
I591F |
probably damaging |
Het |
| Oog2 |
A |
C |
4: 143,921,715 (GRCm39) |
E208D |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,615,121 (GRCm39) |
I1928T |
probably benign |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,571 (GRCm39) |
D316E |
probably benign |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,737 (GRCm39) |
|
probably null |
Het |
| Ptcd3 |
T |
A |
6: 71,879,933 (GRCm39) |
L108F |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,226,599 (GRCm39) |
S31G |
probably benign |
Het |
| Rnf225 |
A |
T |
7: 12,661,857 (GRCm39) |
H12L |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,633,613 (GRCm39) |
M2047L |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpinb3b |
G |
T |
1: 107,082,200 (GRCm39) |
Q355K |
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 15,868,233 (GRCm39) |
F155Y |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,330,134 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,293,837 (GRCm39) |
|
probably null |
Het |
| Tmpo |
A |
G |
10: 90,998,506 (GRCm39) |
V427A |
probably benign |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,337 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfand5 |
C |
T |
19: 21,253,845 (GRCm39) |
T16I |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,177 (GRCm39) |
K439M |
possibly damaging |
Het |
| Zfp786 |
G |
A |
6: 47,797,625 (GRCm39) |
H438Y |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,763 (GRCm39) |
C331S |
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 |
|
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 |
|
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'- TAAGCAGTCACCAGTCCATG -3'
(R):5'- GGCCCAGCATACATCATAGGAG -3'
Sequencing Primer
(F):5'- ACCCGTTTGTGATGCTGAGC -3'
(R):5'- CCAGCATACATCATAGGAGACGGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation