Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Papss1'

355822

Institutional Source

Beutler Lab

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: 0.824) question?

Stock #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131564768-131643671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131607331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 369 (V369F)

Ref Sequence

ENSEMBL: ENSMUSP00000029666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029666] [ENSMUST00000197402] [ENSMUST00000199878] [ENSMUST00000200527]

AlphaFold

Q60967

Predicted Effect

probably damaging
Transcript: ENSMUST00000029666
AA Change: V369F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: V369F

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

noncoding transcript
Transcript: ENSMUST00000198636

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199878
AA Change: V348F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: V348F

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

possibly damaging
Transcript: ENSMUST00000200527
AA Change: V348F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: V348F

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: 96.9%
20x: 94.3%

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
1700122O11Rik	A	G	17: 48,038,240	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 106,504,347	I55T	unknown	Het
Aadacl2	A	G	3: 60,025,039	D325G	probably benign	Het
Adh1	A	G	3: 138,282,513	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,044		probably null	Het
Aicda	C	T	6: 122,553,888		probably benign	Het
Aifm2	T	C	10: 61,727,756	M135T	probably benign	Het
Asah2	T	C	19: 32,054,471		probably null	Het
Btbd17	T	C	11: 114,791,717	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654	E247G	possibly damaging	Het
Cds2	T	C	2: 132,304,953	I383T	probably damaging	Het
Celf3	T	A	3: 94,484,867		probably null	Het
Crhr2	T	C	6: 55,102,867	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,504,774	K91*	probably null	Het
Ddx60	A	C	8: 62,012,424	M1372L	probably benign	Het
Dnah2	A	T	11: 69,498,532	F845I	probably damaging	Het
Dscam	T	C	16: 96,610,324	D1784G	probably damaging	Het
Ech1	T	C	7: 28,832,053	V310A	probably benign	Het
Eef1g	A	G	19: 8,977,966	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,972,544	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,900,261	F192L	probably damaging	Het
Gpr153	T	A	4: 152,281,783	S268R	probably damaging	Het
Hist2h3b	C	A	3: 96,269,078	R129S	probably damaging	Het
Ivl	T	C	3: 92,571,391	K456E	unknown	Het
Kif20b	A	T	19: 34,951,544	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,956,305	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,579,350	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,372,291	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,504,104	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,474,059	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,411,137	D623E	probably benign	Het
Nedd4l	A	G	18: 65,203,880	Y666C	probably damaging	Het
Olfr1022	A	G	2: 85,869,252	Y220C	possibly damaging	Het
Olfr1445	T	G	19: 12,884,621	F247V	probably benign	Het
Olfr204	T	C	16: 59,315,357	T17A	probably damaging	Het
Olfr605	T	A	7: 103,442,635	I163F	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,769	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,310,931	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,356,952	D445G	probably damaging	Het
Plekho1	T	A	3: 95,995,652	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,069,195		probably benign	Het
Ralgapa1	A	T	12: 55,677,276		probably null	Het
Rrp12	T	C	19: 41,873,042	E942G	probably benign	Het
Skor1	T	C	9: 63,144,548	D685G	probably benign	Het
Smim23	A	T	11: 32,824,510	I3N	possibly damaging	Het
Spata7	A	T	12: 98,664,277	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,188,315	I647T	probably benign	Het
Srgap1	C	A	10: 121,792,487	R837L	probably benign	Het
Stpg2	C	A	3: 139,309,229	P385H	probably damaging	Het
Tmem238	C	A	7: 4,789,017	E19*	probably null	Het
Top2b	A	T	14: 16,387,331	K140*	probably null	Het
Trp53	T	A	11: 69,588,422	L142*	probably null	Het
Tyro3	A	T	2: 119,803,270	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,337		probably benign	Het
Zbtb10	T	C	3: 9,264,550	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,845,603	N584K	probably damaging	Het
Zfp944	A	G	17: 22,339,199	C356R	probably damaging	Het

Other mutations in Papss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Papss1	APN	3	131599949	missense	probably benign	0.00
IGL01642:Papss1	APN	3	131583235	splice site	probably benign
IGL02249:Papss1	APN	3	131602011	missense	probably damaging	1.00
IGL02832:Papss1	APN	3	131582519	missense	probably damaging	1.00
IGL03008:Papss1	APN	3	131585099	missense	possibly damaging	0.55
IGL03180:Papss1	APN	3	131607382	missense	probably damaging	1.00
IGL03343:Papss1	APN	3	131583189	missense	probably benign	0.27
IGL03384:Papss1	APN	3	131579352	missense	probably damaging	0.96
R0549:Papss1	UTSW	3	131619213	missense	possibly damaging	0.87
R0685:Papss1	UTSW	3	131583093	missense	possibly damaging	0.61
R0800:Papss1	UTSW	3	131599854	splice site	probably benign
R1225:Papss1	UTSW	3	131579301	splice site	probably benign
R1458:Papss1	UTSW	3	131605854	missense	probably damaging	1.00
R1718:Papss1	UTSW	3	131619185	missense	probably damaging	1.00
R1728:Papss1	UTSW	3	131605967	missense	probably benign	0.00
R1784:Papss1	UTSW	3	131605967	missense	probably benign	0.00
R1862:Papss1	UTSW	3	131583184	missense	possibly damaging	0.93
R1937:Papss1	UTSW	3	131599871	missense	probably benign	0.38
R2349:Papss1	UTSW	3	131599866	missense	probably benign
R3859:Papss1	UTSW	3	131607335	missense	probably benign	0.30
R4741:Papss1	UTSW	3	131619099	missense	probably damaging	1.00
R5333:Papss1	UTSW	3	131643044	missense	probably damaging	1.00
R5642:Papss1	UTSW	3	131631804	nonsense	probably null
R6658:Papss1	UTSW	3	131605935	missense	probably benign
R6932:Papss1	UTSW	3	131599971	missense	probably damaging	1.00
R7051:Papss1	UTSW	3	131602050	missense	probably damaging	1.00
R7199:Papss1	UTSW	3	131585138	missense	probably benign	0.01
R7201:Papss1	UTSW	3	131599926	missense	probably damaging	1.00
R7276:Papss1	UTSW	3	131619234	missense	probably benign	0.11
R7575:Papss1	UTSW	3	131643096	missense	probably damaging	0.99
R7627:Papss1	UTSW	3	131585112	missense	probably benign	0.01
R8325:Papss1	UTSW	3	131582611	missense	probably benign
R8380:Papss1	UTSW	3	131631695	missense	probably damaging	1.00
R9032:Papss1	UTSW	3	131619056	missense	probably damaging	0.99
R9085:Papss1	UTSW	3	131619056	missense	probably damaging	0.99
R9425:Papss1	UTSW	3	131564947	nonsense	probably null
R9469:Papss1	UTSW	3	131583198	missense	possibly damaging	0.62
Z1088:Papss1	UTSW	3	131642967	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CAACCAGGGTCTAGAACAGTG -3'
(R):5'- CTCTCTCACACTAGCTGAGC -3'

Sequencing Primer
(F):5'- TGGTTGCTTTTCAGAAATTCATCC -3'
(R):5'- TAGCTGAGCAGGCTCACATCTTAC -3'

Posted On

2015-10-21