Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03199:Sult2a1'

412919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sult2a1

Ensembl Gene

ENSMUSG00000078798

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 1

Synonyms

Std, Sth1, mSTa1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL03199

Quality Score

Status

Chromosome

Chromosomal Location

13796246-13837409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13832660 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 130 (G130V)

Ref Sequence

ENSEMBL: ENSMUSP00000104162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108522]

Predicted Effect

probably damaging
Transcript: ENSMUST00000108522
AA Change: G130V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104162
Gene: ENSMUSG00000078798
AA Change: G130V

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	278	4.6e-83	PFAM
Pfam:Sulfotransfer_3	35	205	5.8e-11	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This is one of seven sulfotransferase family 2A genes in a chromosome 7 A1 cluster. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 82,062,355	I151T	possibly damaging	Het
9030624J02Rik	T	C	7: 118,766,388	S15P	probably benign	Het
Alms1	T	A	6: 85,622,497	M1904K	possibly damaging	Het
Chsy3	T	A	18: 59,176,401	F242Y	probably damaging	Het
Cwf19l2	G	A	9: 3,477,830	G845D	probably damaging	Het
Cyfip2	A	G	11: 46,276,843	I244T	probably benign	Het
Dnah10	A	T	5: 124,817,697	Q3499L	probably benign	Het
Fat3	A	G	9: 16,377,048	V393A	possibly damaging	Het
Fcamr	T	A	1: 130,812,918	V358D	probably damaging	Het
Fndc3c1	T	A	X: 106,436,387	K696N	possibly damaging	Het
Igkv2-112	G	A	6: 68,220,016	M12I	probably benign	Het
Macc1	T	C	12: 119,446,421	M308T	probably benign	Het
Map4k1	A	G	7: 28,983,417	E16G	probably damaging	Het
Myl7	C	T	11: 5,898,205	G50R	probably damaging	Het
Ncapg2	T	A	12: 116,419,236	L229H	probably damaging	Het
Olfr960	A	G	9: 39,623,944	I272V	probably benign	Het
Prkcz	A	G	4: 155,272,984	F157L	possibly damaging	Het
Trim27	G	A	13: 21,191,251		probably null	Het
Trim43b	T	G	9: 89,089,428	Q225P	probably damaging	Het
Ugt2b34	A	G	5: 86,906,880	L14P	unknown	Het
Vmn1r209	A	T	13: 22,806,050	S157T	possibly damaging	Het
Vmn2r38	A	T	7: 9,075,376	V669D	probably damaging	Het
Zfp422	T	C	6: 116,626,951	Q29R	probably benign	Het
Zfp623	C	T	15: 75,947,270	A25V	probably benign	Het

Other mutations in Sult2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Sult2a1	APN	7	13832640	missense	probably benign	0.02
IGL00990:Sult2a1	APN	7	13804036	missense	probably benign
IGL01322:Sult2a1	APN	7	13832679	nonsense	probably null
IGL02558:Sult2a1	APN	7	13832595	missense	probably benign	0.03
IGL03033:Sult2a1	APN	7	13832710	splice site	probably benign
R1633:Sult2a1	UTSW	7	13801426	missense	probably benign	0.01
R1903:Sult2a1	UTSW	7	13835975	missense	possibly damaging	0.94
R2295:Sult2a1	UTSW	7	13835959	critical splice donor site	probably null
R4207:Sult2a1	UTSW	7	13801547	missense	probably benign	0.00
R5444:Sult2a1	UTSW	7	13836019	missense	possibly damaging	0.80
R6233:Sult2a1	UTSW	7	13832675	missense	probably damaging	1.00
R6317:Sult2a1	UTSW	7	13836020	missense	probably benign	0.00
R6853:Sult2a1	UTSW	7	13801487	missense	possibly damaging	0.50
R7098:Sult2a1	UTSW	7	13816053	intron	probably null
Z1088:Sult2a1	UTSW	7	13801414	missense	probably benign
Z1088:Sult2a1	UTSW	7	13801435	missense	probably benign	0.00
Z1088:Sult2a1	UTSW	7	13804036	missense	probably benign

Posted On

2016-08-02