Incidental Mutation 'R0685:Papss1'
ID 218478
Institutional Source Beutler Lab
Gene Symbol Papss1
Ensembl Gene ENSMUSG00000028032
Gene Name 3'-phosphoadenosine 5'-phosphosulfate synthase 1
Synonyms Asapk, SK1
MMRRC Submission 038870-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R0685 (G1)
Quality Score 54
Status Validated
Chromosome 3
Chromosomal Location 131270626-131349432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 131288854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 119 (N119H)
Ref Sequence ENSEMBL: ENSMUSP00000142616 (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: N140H

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: N140H

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: ENSMUST00000196408
Predicted Effect probably benign
Transcript: ENSMUST00000196638
Predicted Effect probably benign
Transcript: ENSMUST00000197402
Predicted Effect possibly damaging
Transcript: ENSMUST00000199878
AA Change: N119H

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: N119H

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 possibly damaging
Transcript: ENSMUST00000200527
AA Change: N119H

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: N119H

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
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (89/91)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Abi3bp A G 16: 56,353,316 (GRCm39) T82A possibly damaging Het
Adgre4 A C 17: 56,099,035 (GRCm39) E180D probably benign Het
Ankrd28 G A 14: 31,465,407 (GRCm39) probably benign Het
Aoc3 A G 11: 101,227,273 (GRCm39) D382G possibly damaging Het
Apob C A 12: 8,060,742 (GRCm39) R3075S probably benign Het
Aqr A G 2: 113,971,458 (GRCm39) F459S probably damaging Het
Bcr T C 10: 74,967,475 (GRCm39) W570R probably damaging Het
Bloc1s5 C T 13: 38,787,895 (GRCm39) R163K probably benign Het
Bod1 A T 11: 31,619,267 (GRCm39) N101K possibly damaging Het
Bysl A T 17: 47,913,396 (GRCm39) S296T probably benign Het
Chl1 G A 6: 103,685,503 (GRCm39) probably null Het
Clstn1 G A 4: 149,731,312 (GRCm39) A885T probably benign Het
Cyp3a25 G T 5: 145,935,356 (GRCm39) P87T probably damaging Het
Dync1h1 T C 12: 110,623,626 (GRCm39) V3633A probably damaging Het
Dynlt5 T C 4: 102,859,735 (GRCm39) Y96H probably damaging Het
Elp4 C A 2: 105,622,622 (GRCm39) C241F possibly damaging Het
Fat4 T A 3: 39,055,327 (GRCm39) F4182Y probably benign Het
Gabbr2 G A 4: 46,787,521 (GRCm39) H381Y possibly damaging Het
Gm10577 G T 4: 100,877,515 (GRCm39) probably benign Het
Gm9955 G T 18: 24,842,314 (GRCm39) probably benign Het
Gstm5 T A 3: 107,804,635 (GRCm39) I73N probably damaging Het
Gypa T A 8: 81,223,331 (GRCm39) probably benign Het
Hectd2 T A 19: 36,546,831 (GRCm39) V64D probably damaging Het
Igkv10-95 T A 6: 68,657,543 (GRCm39) Y20N probably benign Het
Il15 T C 8: 83,064,188 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kiz C A 2: 146,697,978 (GRCm39) probably benign Het
Lcmt2 C A 2: 120,969,721 (GRCm39) S234I probably benign Het
Lilra5 A G 7: 4,244,956 (GRCm39) probably benign Het
Lin37 T C 7: 30,255,299 (GRCm39) E187G probably damaging Het
Lrrc37 T C 11: 103,507,714 (GRCm39) probably benign Het
Mcmdc2 T A 1: 9,982,039 (GRCm39) probably null Het
Mctp1 T C 13: 76,973,918 (GRCm39) probably null Het
Mdp1 C A 14: 55,896,726 (GRCm39) G112* probably null Het
Mmp15 T C 8: 96,098,762 (GRCm39) Y530H possibly damaging Het
Mtss2 T C 8: 111,454,029 (GRCm39) probably null Het
Muc5ac T C 7: 141,361,446 (GRCm39) S1586P probably benign Het
Nap1l5 A T 6: 58,883,757 (GRCm39) C66S possibly damaging Het
Ninl G T 2: 150,781,775 (GRCm39) Q1237K possibly damaging Het
Or5p70 A T 7: 107,994,470 (GRCm39) T48S possibly damaging Het
Or9m1b T C 2: 87,836,762 (GRCm39) E111G probably damaging Het
Orc6 T G 8: 86,027,783 (GRCm39) S37R possibly damaging Het
Phf13 A T 4: 152,076,069 (GRCm39) F278I probably damaging Het
Pole2 C A 12: 69,258,187 (GRCm39) A239S probably damaging Het
Ppt2 T C 17: 34,845,546 (GRCm39) D75G probably damaging Het
Psd2 A G 18: 36,136,044 (GRCm39) D443G possibly damaging Het
Psen1 C A 12: 83,761,594 (GRCm39) S132* probably null Het
Psme4 A G 11: 30,828,415 (GRCm39) T1812A probably damaging Het
Rasgrf1 T C 9: 89,797,535 (GRCm39) probably benign Het
Reep3 A G 10: 66,857,518 (GRCm39) probably benign Het
Rexo4 A T 2: 26,848,586 (GRCm39) probably benign Het
Rnf6 A C 5: 146,148,468 (GRCm39) S183R probably damaging Het
Scai A T 2: 38,993,749 (GRCm39) M297K probably damaging Het
Scn9a A T 2: 66,313,843 (GRCm39) S1947R probably benign Het
Sema6c T C 3: 95,080,021 (GRCm39) C772R possibly damaging Het
Skint7 T C 4: 111,837,542 (GRCm39) S107P possibly damaging Het
Slc24a3 A G 2: 145,448,715 (GRCm39) N420D probably benign Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Smg7 G A 1: 152,742,399 (GRCm39) P82L probably damaging Het
Sp3 A C 2: 72,801,342 (GRCm39) F268V probably damaging Het
Srms T C 2: 180,854,426 (GRCm39) D47G probably benign Het
Ss18 A C 18: 14,784,238 (GRCm39) M150R probably damaging Het
Taf5 G A 19: 47,063,293 (GRCm39) R281Q probably benign Het
Tars1 T C 15: 11,385,259 (GRCm39) K644R probably benign Het
Tinag C A 9: 76,859,285 (GRCm39) W441L probably damaging Het
Tmtc1 T C 6: 148,312,738 (GRCm39) S244G probably benign Het
Tpr T C 1: 150,309,476 (GRCm39) V1670A possibly damaging Het
Trpv3 A G 11: 73,187,640 (GRCm39) probably benign Het
Uhrf1 G T 17: 56,617,742 (GRCm39) V155L probably damaging Het
Ush2a G A 1: 188,132,475 (GRCm39) C899Y probably damaging Het
Vmn2r115 G A 17: 23,578,249 (GRCm39) R574H probably benign Het
Vmn2r63 T C 7: 42,577,434 (GRCm39) D368G probably benign Het
Vps13a A G 19: 16,758,105 (GRCm39) V10A probably damaging Het
Wbp11 A G 6: 136,791,636 (GRCm39) probably benign Het
Zcwpw1 A G 5: 137,797,854 (GRCm39) D145G probably benign Het
Zfp607a G A 7: 27,577,901 (GRCm39) V324I probably damaging Het
Zfp618 A G 4: 63,052,011 (GRCm39) I931V probably benign Het
Zfp821 T C 8: 110,451,174 (GRCm39) V389A possibly damaging Het
Zfp976 T A 7: 42,263,141 (GRCm39) H232L 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
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
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'- GGAGCCTTTATGCCATTAGGTGCTG -3'
(R):5'- AAACCTGAAGAAAACGATGCTTGCC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GAAAACGATGCTTGCCTTTTATCTC -3'
Posted On 2014-08-11