Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01642:Papss1'

93720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Papss1

Ensembl Gene

ENSMUSG00000028032

Gene Name

3'-phosphoadenosine 5'-phosphosulfate synthase 1

Synonyms

Asapk, SK1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

IGL01642

Quality Score

Status

Chromosome

Chromosomal Location

131270626-131349432 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 131288996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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: ENSMUST00000196408

Predicted Effect

probably benign
Transcript: ENSMUST00000196638

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	G	11: 116,486,514 (GRCm39)	T18A	possibly damaging	Het
Abat	A	T	16: 8,418,783 (GRCm39)	I126F	possibly damaging	Het
Adcy6	G	A	15: 98,492,390 (GRCm39)	A958V	possibly damaging	Het
Ago2	T	C	15: 72,995,239 (GRCm39)	I447V	probably benign	Het
Arid1a	A	G	4: 133,409,155 (GRCm39)	V1784A	unknown	Het
Atp1b1	A	G	1: 164,285,330 (GRCm39)	F33L	probably benign	Het
Bpnt1	G	A	1: 185,086,238 (GRCm39)	V198I	probably benign	Het
Cemip2	T	A	19: 21,801,265 (GRCm39)	I794N	probably damaging	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Cgas	G	A	9: 78,344,680 (GRCm39)	P247L	probably damaging	Het
Clip3	G	A	7: 29,998,287 (GRCm39)	M244I	probably benign	Het
Clip3	A	T	7: 29,996,494 (GRCm39)		probably benign	Het
Cyp2a22	A	T	7: 26,638,184 (GRCm39)	N107K	possibly damaging	Het
Cyp2c23	A	T	19: 43,993,995 (GRCm39)	L457Q	probably damaging	Het
Dbr1	A	G	9: 99,458,031 (GRCm39)	Y17C	probably damaging	Het
Drc7	G	A	8: 95,785,767 (GRCm39)	V208I	probably benign	Het
Dst	T	A	1: 34,228,470 (GRCm39)	L2021Q	probably damaging	Het
E2f4	C	A	8: 106,027,968 (GRCm39)	P299T	probably damaging	Het
Eef1b2	T	C	1: 63,216,990 (GRCm39)	L53P	probably damaging	Het
Enpp3	T	C	10: 24,674,167 (GRCm39)	T378A	probably damaging	Het
Eps15	A	G	4: 109,223,670 (GRCm39)	N302S	probably benign	Het
Esrrg	G	A	1: 187,943,112 (GRCm39)	V362M	probably benign	Het
Gcc2	T	A	10: 58,116,434 (GRCm39)	N1014K	probably benign	Het
Gm3099	T	A	14: 15,346,476 (GRCm39)	M114K	possibly damaging	Het
Gnptab	C	T	10: 88,271,994 (GRCm39)	T928I	possibly damaging	Het
Gpd2	A	T	2: 57,158,083 (GRCm39)	R31*	probably null	Het
Impdh1	T	C	6: 29,207,165 (GRCm39)	T60A	possibly damaging	Het
Kcnab3	A	G	11: 69,221,256 (GRCm39)	E191G	probably benign	Het
Kcnh5	A	G	12: 75,011,943 (GRCm39)	S659P	probably damaging	Het
Kl	T	C	5: 150,904,334 (GRCm39)	I362T	possibly damaging	Het
Kpna4	A	G	3: 68,993,117 (GRCm39)	V414A	probably damaging	Het
Magi1	G	A	6: 93,663,605 (GRCm39)	P1111S	possibly damaging	Het
Myo18a	A	G	11: 77,755,558 (GRCm39)	D1965G	probably benign	Het
Nadsyn1	G	A	7: 143,351,615 (GRCm39)	P673S	probably damaging	Het
Naip2	A	G	13: 100,297,445 (GRCm39)	S864P	probably damaging	Het
Or10ak16	A	G	4: 118,750,658 (GRCm39)	Y126C	probably damaging	Het
Or2d2b	A	T	7: 106,706,029 (GRCm39)	I13N	possibly damaging	Het
Or2f1	G	T	6: 42,721,486 (GRCm39)	V172L	probably benign	Het
Paics	T	A	5: 77,109,357 (GRCm39)		probably benign	Het
Pax3	A	G	1: 78,173,300 (GRCm39)		probably null	Het
Pgbd5	T	G	8: 125,110,941 (GRCm39)	Q159P	probably benign	Het
Pkd1	A	G	17: 24,800,266 (GRCm39)	Y3009C	probably damaging	Het
Pla2g4d	T	C	2: 120,111,117 (GRCm39)	T161A	probably damaging	Het
Podxl2	T	A	6: 88,820,529 (GRCm39)	Y521F	probably damaging	Het
Pramel34	A	G	5: 93,784,154 (GRCm39)	Y437H	possibly damaging	Het
Prmt2	C	T	10: 76,058,327 (GRCm39)	G161S	probably damaging	Het
Rft1	C	T	14: 30,398,825 (GRCm39)	T265I	probably damaging	Het
Rims2	T	A	15: 39,321,192 (GRCm39)	L736M	probably damaging	Het
Slf1	C	T	13: 77,198,034 (GRCm39)	A747T	probably benign	Het
Snx2	A	G	18: 53,349,519 (GRCm39)	K427E	probably damaging	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tnxb	A	G	17: 34,937,488 (GRCm39)	T3826A	probably damaging	Het
Tpp2	T	C	1: 43,993,813 (GRCm39)	Y233H	probably damaging	Het
Ubl4b	C	A	3: 107,462,147 (GRCm39)	E38*	probably null	Het
Usp5	A	T	6: 124,797,416 (GRCm39)	I486N	probably damaging	Het
Vmn1r193	A	C	13: 22,403,794 (GRCm39)	L66R	probably damaging	Het
Vps13b	T	C	15: 35,792,218 (GRCm39)	I2162T	probably benign	Het
Wipf2	T	C	11: 98,781,650 (GRCm39)	V63A	probably benign	Het
Zfp735	G	T	11: 73,601,305 (GRCm39)	C83F	possibly damaging	Het
Zfyve26	T	C	12: 79,308,348 (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
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
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

Posted On

2013-12-09