Incidental Mutation 'R8325:Papss1'
| ID |
644037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papss1
|
| Ensembl Gene |
ENSMUSG00000028032 |
| Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 1 |
| Synonyms |
Asapk, SK1 |
| MMRRC Submission |
067857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R8325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
131270626-131349432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131288372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 136
(T136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029666]
[ENSMUST00000196408]
[ENSMUST00000196638]
[ENSMUST00000197402]
[ENSMUST00000199878]
[ENSMUST00000200527]
|
| AlphaFold |
Q60967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029666
AA Change: T136A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: T136A
| 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: ENSMUST00000196408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196638
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199878
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: T115A
| 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: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: T115A
| 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 |
0.0769 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
T |
C |
15: 89,453,954 (GRCm39) |
V97A |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,258,119 (GRCm39) |
G1081D |
probably benign |
Het |
| Ang2 |
A |
G |
14: 51,432,960 (GRCm39) |
S141P |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,134,237 (GRCm39) |
|
probably null |
Het |
| Apba2 |
A |
T |
7: 64,345,730 (GRCm39) |
T307S |
probably benign |
Het |
| Cadm2 |
T |
A |
16: 66,612,338 (GRCm39) |
N84Y |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,448 (GRCm39) |
C478R |
probably benign |
Het |
| Cep290 |
A |
C |
10: 100,353,670 (GRCm39) |
H801P |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,310,629 (GRCm39) |
Y555* |
probably null |
Het |
| Cmas |
T |
C |
6: 142,717,065 (GRCm39) |
|
probably null |
Het |
| Cmtm7 |
T |
C |
9: 114,592,415 (GRCm39) |
I61V |
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,669,651 (GRCm39) |
S236P |
possibly damaging |
Het |
| Dcp1b |
C |
T |
6: 119,192,397 (GRCm39) |
Q438* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,076,149 (GRCm39) |
Q678R |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,521 (GRCm39) |
M487K |
possibly damaging |
Het |
| Gm7361 |
T |
C |
5: 26,467,154 (GRCm39) |
S258P |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,183,548 (GRCm39) |
I96M |
probably benign |
Het |
| Ifi27l2a |
G |
A |
12: 103,409,144 (GRCm39) |
A49V |
unknown |
Het |
| Igkv10-96 |
T |
C |
6: 68,609,088 (GRCm39) |
Y69C |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,225,954 (GRCm39) |
V2573D |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,939,007 (GRCm39) |
N14S |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,759,975 (GRCm39) |
T94A |
possibly damaging |
Het |
| Lcp2 |
T |
A |
11: 34,032,394 (GRCm39) |
V324E |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,379 (GRCm39) |
K481E |
probably benign |
Het |
| Met |
A |
G |
6: 17,571,671 (GRCm39) |
E1330G |
probably damaging |
Het |
| Mroh1 |
GCCCAGGCCCC |
GCC |
15: 76,316,415 (GRCm39) |
|
probably null |
Het |
| Mss51 |
T |
C |
14: 20,534,771 (GRCm39) |
D333G |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,541,464 (GRCm39) |
V1933A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,338,796 (GRCm39) |
Y212C |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,521,608 (GRCm39) |
I104M |
probably benign |
Het |
| Npsr1 |
C |
T |
9: 24,198,118 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
A |
G |
9: 88,245,615 (GRCm39) |
E295G |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,124 (GRCm39) |
F103S |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,537 (GRCm39) |
L186Q |
probably damaging |
Het |
| Pcdha1 |
A |
T |
18: 37,063,867 (GRCm39) |
D177V |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,574,973 (GRCm39) |
S308C |
probably damaging |
Het |
| Pdhx |
G |
T |
2: 102,872,597 (GRCm39) |
P162T |
probably benign |
Het |
| Plin3 |
C |
T |
17: 56,593,268 (GRCm39) |
R98Q |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,271 (GRCm39) |
N1243S |
|
Het |
| Serpinb1b |
A |
T |
13: 33,277,584 (GRCm39) |
K272N |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,575,982 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,096,257 (GRCm39) |
M739K |
probably benign |
Het |
| Tbc1d9 |
G |
A |
8: 83,966,667 (GRCm39) |
|
probably null |
Het |
| Trp53inp1 |
A |
G |
4: 11,164,561 (GRCm39) |
D35G |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,952,524 (GRCm39) |
V549A |
probably damaging |
Het |
| Usp18 |
T |
C |
6: 121,230,769 (GRCm39) |
L66S |
probably damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,122,529 (GRCm39) |
S295N |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,244,941 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,625 (GRCm39) |
A764D |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,689,444 (GRCm39) |
I3031F |
|
Het |
| Wdr7 |
A |
G |
18: 63,911,535 (GRCm39) |
|
probably null |
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 |
|
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'- CATTCCGTGCTACACTTTGG -3'
(R):5'- AAGAACTTTGCTATACCCTAGGG -3'
Sequencing Primer
(F):5'- CGTGCTACACTTTGGATGGTGAC -3'
(R):5'- CAAAACACAGGCCAATGTT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation