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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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