Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Sult2a5'

153208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sult2a5

Ensembl Gene

ENSMUSG00000078799

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 5

Synonyms

Gm15438, EG434264

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

13623967-13670807 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13665154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 229 (S229P)

Ref Sequence

ENSEMBL: ENSMUSP00000104165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108525]

AlphaFold

K7N6K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000108525
AA Change: S229P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104165
Gene: ENSMUSG00000078799
AA Change: S229P

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	278	2e-82	PFAM
Pfam:Sulfotransfer_3	35	205	3.3e-12	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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,990,281		probably benign	Het
Adamts9	T	C	6: 92,796,159	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,180,001	Y537*	probably null	Het
Chic2	T	C	5: 75,006,767		probably benign	Het
Cpa5	G	A	6: 30,625,927		probably benign	Het
Csgalnact2	T	C	6: 118,129,346	R4G	probably damaging	Het
Dnah10	T	A	5: 124,768,927	V1510D	probably benign	Het
Dnm2	T	A	9: 21,465,619	F91L	probably damaging	Het
Eif2b1	T	C	5: 124,573,140	K189E	probably benign	Het
Fgf17	A	T	14: 70,636,980	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,558,085	K54R	possibly damaging	Het
Isg15	A	G	4: 156,199,844	C76R	probably damaging	Het
Ldb2	A	T	5: 44,541,867		probably benign	Het
Lig4	A	G	8: 9,971,185	I865T	probably benign	Het
Lrrc46	T	C	11: 97,035,875	Y154C	probably damaging	Het
Lrrc8a	G	A	2: 30,255,525	R117H	possibly damaging	Het
Mrpl2	A	G	17: 46,648,257	I96V	probably damaging	Het
Mtif2	G	A	11: 29,541,337		probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Ptpn23	G	A	9: 110,391,636	R269W	probably damaging	Het
Senp2	T	C	16: 22,009,664	V8A	probably benign	Het
Slf1	T	C	13: 77,084,440	D515G	probably benign	Het
Spc25	G	A	2: 69,202,608	Q58*	probably null	Het
Tfap2d	A	G	1: 19,104,580	T86A	probably benign	Het
Trp53bp1	A	G	2: 121,211,304	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,576,228	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,087,923	V49A	probably benign	Het
Zfp648	T	C	1: 154,204,925	S277P	probably damaging	Het

Other mutations in Sult2a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02352:Sult2a5	APN	7	13628802	missense	probably benign	0.10
IGL02359:Sult2a5	APN	7	13628802	missense	probably benign	0.10
IGL02453:Sult2a5	APN	7	13662507	missense	possibly damaging	0.66
IGL03062:Sult2a5	APN	7	13624182	critical splice donor site	probably null
R0285:Sult2a5	UTSW	7	13628760	missense	probably damaging	1.00
R0918:Sult2a5	UTSW	7	13625409	missense	probably benign	0.12
R1869:Sult2a5	UTSW	7	13624120	missense	probably benign	0.01
R1917:Sult2a5	UTSW	7	13670684	missense	probably damaging	1.00
R2117:Sult2a5	UTSW	7	13625434	missense	probably damaging	1.00
R4867:Sult2a5	UTSW	7	13624051	missense	probably benign	0.02
R4890:Sult2a5	UTSW	7	13625386	missense	probably benign	0.06
R4901:Sult2a5	UTSW	7	13625263	missense	probably benign	0.10
R5236:Sult2a5	UTSW	7	13665049	missense	probably benign
R6355:Sult2a5	UTSW	7	13662537	missense	probably benign	0.00
R6692:Sult2a5	UTSW	7	13624132	missense	probably damaging	0.99
R6735:Sult2a5	UTSW	7	13665058	nonsense	probably null
R6873:Sult2a5	UTSW	7	13625386	missense	probably benign	0.00
R7616:Sult2a5	UTSW	7	13670682	missense	probably benign
R7828:Sult2a5	UTSW	7	13628843	critical splice donor site	probably null
R9502:Sult2a5	UTSW	7	13625318	missense	probably benign	0.01
X0024:Sult2a5	UTSW	7	13665216	critical splice donor site	probably null

Posted On

2014-02-04