Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00541:Sult2a2'

5329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sult2a2

Ensembl Gene

ENSMUSG00000070811

Gene Name

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

Synonyms

mSTa2, Sth2, C730007P19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL00541

Quality Score

Status

Chromosome

Chromosomal Location

13467431-13513562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13468684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 50 (L50P)

Ref Sequence

ENSEMBL: ENSMUSP00000083317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086148]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000086148
AA Change: L50P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083317
Gene: ENSMUSG00000070811
AA Change: L50P

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	162	2.3e-37	PFAM
Pfam:Sulfotransfer_1	157	187	1.3e-8	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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp2k	G	A	5: 97,211,407 (GRCm39)		probably null	Het
Col6a3	T	C	1: 90,729,864 (GRCm39)	H1207R	possibly damaging	Het
Efl1	T	C	7: 82,307,319 (GRCm39)	S72P	probably damaging	Het
Fbxw9	A	T	8: 85,793,219 (GRCm39)	I435F	probably damaging	Het
Gm9837	G	A	11: 53,361,079 (GRCm39)		probably benign	Het
Lama2	C	A	10: 27,064,302 (GRCm39)	L1226F	probably benign	Het
Nbea	G	A	3: 55,875,510 (GRCm39)	P1720L	probably benign	Het
Pira12	T	A	7: 3,900,385 (GRCm39)		probably benign	Het
Slco1a6	G	T	6: 142,042,025 (GRCm39)	T517K	possibly damaging	Het
Syt9	A	T	7: 107,101,387 (GRCm39)	N378Y	probably null	Het
Tchh	A	G	3: 93,353,557 (GRCm39)	E999G	unknown	Het
Usp9x	A	G	X: 13,007,985 (GRCm39)	T1425A	probably benign	Het

Other mutations in Sult2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01504:Sult2a2	APN	7	13,472,189 (GRCm39)	missense	probably damaging	1.00
IGL01833:Sult2a2	APN	7	13,468,721 (GRCm39)	missense	probably damaging	0.99
IGL03162:Sult2a2	APN	7	13,468,822 (GRCm39)	missense	probably damaging	0.96
IGL03408:Sult2a2	APN	7	13,472,154 (GRCm39)	missense	probably damaging	1.00
R0941:Sult2a2	UTSW	7	13,468,815 (GRCm39)	nonsense	probably null
R1109:Sult2a2	UTSW	7	13,468,798 (GRCm39)	missense	probably benign	0.01
R1376:Sult2a2	UTSW	7	13,468,696 (GRCm39)	missense	probably damaging	0.99
R1376:Sult2a2	UTSW	7	13,468,696 (GRCm39)	missense	probably damaging	0.99
R4114:Sult2a2	UTSW	7	13,468,708 (GRCm39)	missense	probably benign	0.00
R4116:Sult2a2	UTSW	7	13,468,708 (GRCm39)	missense	probably benign	0.00
R4940:Sult2a2	UTSW	7	13,472,223 (GRCm39)	missense	probably benign	0.03
R5023:Sult2a2	UTSW	7	13,468,785 (GRCm39)	missense	possibly damaging	0.79
R5510:Sult2a2	UTSW	7	13,472,228 (GRCm39)	missense	probably damaging	0.99
R7424:Sult2a2	UTSW	7	13,468,822 (GRCm39)	missense	possibly damaging	0.79
R7569:Sult2a2	UTSW	7	13,513,430 (GRCm39)	missense	probably benign
R7800:Sult2a2	UTSW	7	13,468,710 (GRCm39)	missense	probably benign	0.30
R8842:Sult2a2	UTSW	7	13,472,192 (GRCm39)	missense	probably damaging	1.00
R8948:Sult2a2	UTSW	7	13,467,484 (GRCm39)	start codon destroyed	probably damaging	0.96
R8950:Sult2a2	UTSW	7	13,467,484 (GRCm39)	start codon destroyed	probably damaging	0.96

Posted On

2012-04-20