Mutagenetix > Incidental Mutation

Incidental Mutation 'R6311:Sult2a3'

509772

Institutional Source

Beutler Lab

Gene Symbol

Sult2a3

Ensembl Gene

ENSMUSG00000074375

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 3

Synonyms

Gm6955

MMRRC Submission

044469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13801480-13856973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13845482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 126 (I126V)

Ref Sequence

ENSEMBL: ENSMUSP00000096407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098809]

AlphaFold

D3Z1W5

Predicted Effect

probably benign
Transcript: ENSMUST00000098809
AA Change: I126V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096407
Gene: ENSMUSG00000074375
AA Change: I126V

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	278	1.5e-83	PFAM
Pfam:Sulfotransfer_3	35	205	3.4e-11	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,773,911 (GRCm39)	I1044T	probably damaging	Het
Arhgef4	T	G	1: 34,763,062 (GRCm39)	F773V	unknown	Het
B4galnt4	A	G	7: 140,648,572 (GRCm39)	N696S	probably damaging	Het
Cdh16	T	A	8: 105,341,065 (GRCm39)	D786V	probably benign	Het
Cdh8	T	C	8: 100,127,527 (GRCm39)	Y28C	probably damaging	Het
Cgn	C	T	3: 94,685,486 (GRCm39)		probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chst10	A	G	1: 38,907,128 (GRCm39)	V174A	probably damaging	Het
Clca4a	T	A	3: 144,672,174 (GRCm39)	N256I	probably damaging	Het
Cntnap5a	G	A	1: 116,339,836 (GRCm39)	W698*	probably null	Het
Ddx24	C	A	12: 103,390,166 (GRCm39)	R275L	probably damaging	Het
Dnmt3b	G	T	2: 153,515,925 (GRCm39)	G444V	probably damaging	Het
Ermn	A	G	2: 57,941,771 (GRCm39)	F109S	probably damaging	Het
Fam227a	C	T	15: 79,524,895 (GRCm39)	A190T	probably benign	Het
Fstl4	T	C	11: 53,067,804 (GRCm39)	W556R	probably damaging	Het
Fut2	T	A	7: 45,299,804 (GRCm39)	I323F	possibly damaging	Het
Grik2	T	G	10: 49,454,234 (GRCm39)	K94Q	probably damaging	Het
Hsd3b5	T	C	3: 98,537,406 (GRCm39)	R37G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,648,816 (GRCm39)		probably null	Het
Lrriq1	A	T	10: 103,009,254 (GRCm39)	D1076E	probably benign	Het
Mical2	T	A	7: 111,922,765 (GRCm39)	I590N	probably damaging	Het
Mycbp2	A	G	14: 103,500,176 (GRCm39)	L940P	possibly damaging	Het
Nr6a1	T	C	2: 38,629,083 (GRCm39)	I257V	possibly damaging	Het
Or5b100-ps1	T	A	19: 12,993,935 (GRCm39)	M116K	probably damaging	Het
Or6c216	A	G	10: 129,678,776 (GRCm39)	L45P	possibly damaging	Het
Pcdhb17	A	T	18: 37,619,316 (GRCm39)		probably null	Het
Pdcl3	A	G	1: 39,026,925 (GRCm39)	M1V	probably null	Het
Pdzd2	T	A	15: 12,458,274 (GRCm39)	E196D	probably damaging	Het
Pgm1	T	C	4: 99,827,237 (GRCm39)	F379S	possibly damaging	Het
Pgm2	G	A	5: 64,273,758 (GRCm39)	C581Y	probably benign	Het
Plbd1	T	A	6: 136,590,945 (GRCm39)	H407L	probably benign	Het
Prdm12	A	G	2: 31,544,321 (GRCm39)	Y308C	probably benign	Het
Prdm15	T	C	16: 97,600,255 (GRCm39)	E893G	probably null	Het
Slc34a1	A	G	13: 23,999,005 (GRCm39)	T133A	probably benign	Het
Slc9a8	T	A	2: 167,293,140 (GRCm39)	S163T	probably damaging	Het
Tlr1	C	T	5: 65,084,188 (GRCm39)	D130N	probably damaging	Het
Ugt3a1	A	T	15: 9,361,604 (GRCm39)	K127*	probably null	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het

Other mutations in Sult2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Sult2a3	APN	7	13,856,905 (GRCm39)	missense	probably benign	0.03
IGL02353:Sult2a3	APN	7	13,855,575 (GRCm39)	nonsense	probably null
IGL02360:Sult2a3	APN	7	13,855,575 (GRCm39)	nonsense	probably null
IGL02806:Sult2a3	APN	7	13,856,857 (GRCm39)	missense	probably damaging	1.00
IGL03252:Sult2a3	APN	7	13,801,559 (GRCm39)	missense	probably damaging	1.00
R0029:Sult2a3	UTSW	7	13,806,999 (GRCm39)	missense	probably benign	0.11
R1480:Sult2a3	UTSW	7	13,856,836 (GRCm39)	missense	possibly damaging	0.51
R1491:Sult2a3	UTSW	7	13,856,867 (GRCm39)	missense	probably benign	0.01
R4078:Sult2a3	UTSW	7	13,855,662 (GRCm39)	missense	possibly damaging	0.94
R4668:Sult2a3	UTSW	7	13,856,786 (GRCm39)	missense	probably damaging	1.00
R4928:Sult2a3	UTSW	7	13,845,482 (GRCm39)	missense	probably benign	0.06
R6749:Sult2a3	UTSW	7	13,816,629 (GRCm39)	missense	probably benign	0.00
R7030:Sult2a3	UTSW	7	13,801,493 (GRCm39)	missense	probably damaging	1.00
R7232:Sult2a3	UTSW	7	13,816,685 (GRCm39)	missense	possibly damaging	0.89
R7394:Sult2a3	UTSW	7	13,845,449 (GRCm39)	missense	probably benign	0.05
R7617:Sult2a3	UTSW	7	13,806,981 (GRCm39)	missense	probably benign	0.00
R8029:Sult2a3	UTSW	7	13,855,553 (GRCm39)	missense	probably damaging	1.00
R8097:Sult2a3	UTSW	7	13,816,635 (GRCm39)	missense	possibly damaging	0.93
R9154:Sult2a3	UTSW	7	13,806,981 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGAGCACCTATCCCTTCTCA -3'
(R):5'- AGAACTGTTGAATCAGTCTGTGTT -3'

Sequencing Primer
(F):5'- TATCCCTTCTCAGAGGAGCAGAG -3'
(R):5'- TGAACTAGTCATTTTGTTGTTCCAG -3'

Posted On

2018-04-02