Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03008:Papss1'

407620

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

Is this an essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

131564768-131643671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131585099 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 201 (V201A)

Ref Sequence

ENSEMBL: ENSMUSP00000029666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029666] [ENSMUST00000196638] [ENSMUST00000197402] [ENSMUST00000199878] [ENSMUST00000200527]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029666
AA Change: V201A

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029666
Gene: ENSMUSG00000028032
AA Change: V201A

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: ENSMUST00000196638

Predicted Effect

probably benign
Transcript: ENSMUST00000197402

Predicted Effect

probably benign
Transcript: ENSMUST00000199878
AA Change: V180A

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142533
Gene: ENSMUSG00000028032
AA Change: V180A

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: V180A

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142616
Gene: ENSMUSG00000028032
AA Change: V180A

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,491,598		probably null	Het
AF529169	A	G	9: 89,596,678	Y772H	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,730,284	M1I	probably null	Het
Ankrd44	T	C	1: 54,766,809	H146R	probably damaging	Het
Bst1	A	G	5: 43,826,262		probably null	Het
Cdh12	A	T	15: 21,480,330	I211F	probably damaging	Het
Cenpj	G	T	14: 56,526,949	D1335E	probably benign	Het
Clpx	G	A	9: 65,322,775	V502I	possibly damaging	Het
Cntnap4	T	C	8: 112,773,590	S505P	probably benign	Het
Cog2	T	C	8: 124,535,392		probably benign	Het
Cped1	A	G	6: 22,233,602	Q819R	probably benign	Het
Cspg4	A	G	9: 56,898,475	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,837,448	R359Q	probably damaging	Het
Cul9	A	G	17: 46,502,697		probably benign	Het
Dab1	G	T	4: 104,727,580	V306F	probably damaging	Het
Dysf	A	G	6: 84,073,894	I438V	probably benign	Het
Eif4g3	G	T	4: 138,120,388	G380W	probably damaging	Het
Exd1	T	A	2: 119,520,381	K466N	probably benign	Het
Eya3	A	C	4: 132,706,983	D325A	probably damaging	Het
Fmn1	A	G	2: 113,365,100	T382A	unknown	Het
Fry	T	A	5: 150,345,556	D106E	possibly damaging	Het
Gm21957	T	A	7: 125,219,561		noncoding transcript	Het
Gm44511	A	G	6: 128,784,096		probably benign	Het
Gm884	T	C	11: 103,620,467	E225G	unknown	Het
Itga4	A	G	2: 79,325,638	I983V	probably benign	Het
Lrpprc	A	T	17: 84,751,247	D5E	probably benign	Het
Ltbp4	G	T	7: 27,324,364	N747K	probably damaging	Het
Mlh3	T	C	12: 85,240,851	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,353,439	C63S	possibly damaging	Het
Myh11	T	A	16: 14,204,753	M1661L	probably benign	Het
Myo1c	T	C	11: 75,658,414	M137T	probably benign	Het
Myocd	A	C	11: 65,187,566	L340V	probably damaging	Het
Napsa	A	T	7: 44,585,796	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,714,589	Q240K	probably benign	Het
Npepps	A	C	11: 97,238,158	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,393,438	E275V	probably benign	Het
Ofd1	T	C	X: 166,409,534	D501G	probably benign	Het
Olfr1310	A	G	2: 112,008,523	I221T	possibly damaging	Het
Olfr228	A	T	2: 86,483,334	M136K	probably damaging	Het
Olfr507	T	G	7: 108,622,283	L157R	probably damaging	Het
Olfr525	T	C	7: 140,323,532	Y278H	probably damaging	Het
P2ry1	A	T	3: 61,003,526	T29S	probably benign	Het
Paxip1	A	G	5: 27,752,766	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,821,834	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,876,159	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,653,864	I27T	probably damaging	Het
Rnf10	G	T	5: 115,251,296	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,562,511	S246P	probably damaging	Het
Sertad2	G	T	11: 20,647,798		probably benign	Het
Slc22a27	A	G	19: 7,909,702	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,891,232	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,890,941	F225I	probably benign	Het
Slc6a3	G	A	13: 73,558,285		probably null	Het
Smcr8	A	G	11: 60,778,461	E145G	probably damaging	Het
Spen	A	T	4: 141,476,137	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stag1	A	T	9: 100,776,791	N144Y	probably damaging	Het
Strada	T	C	11: 106,170,957	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tas2r138	A	C	6: 40,613,182	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,826,335	K106*	probably null	Het
Trbv13-1	A	G	6: 41,116,295	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,247,695	V218A	probably benign	Het
Ttn	G	A	2: 76,780,859	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,412,423	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,257,646	M168V	probably benign	Het
Wdr11	T	C	7: 129,606,991		probably benign	Het
Wipf2	T	C	11: 98,892,728		probably benign	Het
Zranb2	T	A	3: 157,546,665		probably null	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
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
R4698:Papss1	UTSW	3	131607331	missense	probably damaging	0.97
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
Z1088:Papss1	UTSW	3	131642967	missense	possibly damaging	0.62

Posted On

2016-08-02