Mutagenetix > Incidental Mutation

Incidental Mutation 'R6744:Sult2a6'

532785

Institutional Source

Beutler Lab

Gene Symbol

Sult2a6

Ensembl Gene

ENSMUSG00000070810

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 6

Synonyms

Gm6957

MMRRC Submission

044861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13956328-13988795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13956470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 264 (E264K)

Ref Sequence

ENSEMBL: ENSMUSP00000075884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076576] [ENSMUST00000184731]

AlphaFold

B2RVI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000076576
AA Change: E264K

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

SMART Domains

Protein: ENSMUSP00000075884
Gene: ENSMUSG00000070810
AA Change: E264K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	278	1.2e-81	PFAM
Pfam:Sulfotransfer_3	35	205	2.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184731

SMART Domains

Protein: ENSMUSP00000138842
Gene: ENSMUSG00000070810

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	116	4.7e-20	PFAM

Meta Mutation Damage Score

0.4671

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (47/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	A	10: 20,841,466 (GRCm39)	L251H	probably damaging	Het
Alk	A	T	17: 72,910,077 (GRCm39)	S210T	probably benign	Het
Arap2	A	G	5: 62,906,281 (GRCm39)	F246S	probably damaging	Het
Atad5	T	A	11: 80,024,858 (GRCm39)	N1749K	probably benign	Het
C87436	T	A	6: 86,423,046 (GRCm39)	S207T	probably damaging	Het
C8b	C	T	4: 104,631,543 (GRCm39)	R53W	probably damaging	Het
Catsperg2	A	G	7: 29,409,244 (GRCm39)	V619A	probably benign	Het
Cdc73	G	A	1: 143,577,887 (GRCm39)		probably benign	Het
Cdh4	C	A	2: 179,489,180 (GRCm39)	H297Q	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,816,207 (GRCm39)	N1328S	probably damaging	Het
Ctnnb1	T	A	9: 120,782,025 (GRCm39)	V346E	probably damaging	Het
Ctns	C	T	11: 73,076,111 (GRCm39)	G308E	probably damaging	Het
Cxxc4	AGGCGGCGGCGGCGGCGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGC	3: 133,945,891 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,014,532 (GRCm39)	I3685T	probably damaging	Het
Dock6	T	C	9: 21,742,770 (GRCm39)	H775R	probably damaging	Het
Eef1ece2	A	T	16: 20,449,116 (GRCm39)	K165N	probably damaging	Het
Fbxl3	A	T	14: 103,320,730 (GRCm39)	V239D	probably damaging	Het
Gh	T	A	11: 106,192,230 (GRCm39)	K55*	probably null	Het
Havcr2	T	G	11: 46,345,887 (GRCm39)		probably null	Het
Kcnq2	T	A	2: 180,727,099 (GRCm39)	H576L	possibly damaging	Het
Kifap3	A	G	1: 163,676,239 (GRCm39)	N398S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mblac1	A	G	5: 138,192,682 (GRCm39)	E8G	possibly damaging	Het
Mtor	C	T	4: 148,543,112 (GRCm39)	T290I	probably benign	Het
Nceh1	T	C	3: 27,295,938 (GRCm39)	Y400H	probably damaging	Het
Nek9	A	G	12: 85,376,703 (GRCm39)	V226A	probably benign	Het
Or10a3	T	C	7: 108,480,037 (GRCm39)	T259A	probably damaging	Het
Or10al3	T	A	17: 38,012,336 (GRCm39)	Y258*	probably null	Het
Or2d4	A	G	7: 106,543,741 (GRCm39)	S156P	probably damaging	Het
Otud4	C	A	8: 80,400,407 (GRCm39)	Y1039*	probably null	Het
Pax4	T	C	6: 28,442,396 (GRCm39)	H331R	probably benign	Het
Piezo2	A	T	18: 63,165,960 (GRCm39)	Y2090*	probably null	Het
Ppp1r12a	T	A	10: 108,066,395 (GRCm39)	H195Q	probably damaging	Het
Ppp6r2	A	G	15: 89,140,864 (GRCm39)		probably null	Het
Prodh	A	G	16: 17,897,064 (GRCm39)	V23A	probably benign	Het
Psg20	G	A	7: 18,408,505 (GRCm39)	T405I	probably damaging	Het
Ptprf	T	C	4: 118,093,562 (GRCm39)	D360G	probably benign	Het
Qrfprl	T	A	6: 65,418,324 (GRCm39)	M164K	possibly damaging	Het
Rad18	A	T	6: 112,652,745 (GRCm39)	M284K	probably damaging	Het
Rgs17	T	C	10: 5,792,567 (GRCm39)	K60E	possibly damaging	Het
Sec31a	G	T	5: 100,540,358 (GRCm39)	Q39K	possibly damaging	Het
Slc22a22	G	T	15: 57,117,668 (GRCm39)	T291K	possibly damaging	Het
Syne2	C	T	12: 76,121,221 (GRCm39)	R5896C	probably damaging	Het
Tctn1	A	T	5: 122,402,209 (GRCm39)	V75D	probably damaging	Het
Tmem214	A	G	5: 31,031,372 (GRCm39)	K409E	probably damaging	Het
Vcan	T	C	13: 89,853,301 (GRCm39)	Y553C	probably damaging	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het

Other mutations in Sult2a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Sult2a6	APN	7	13,988,634 (GRCm39)	missense	probably damaging	1.00
IGL01977:Sult2a6	APN	7	13,987,411 (GRCm39)	missense	probably benign	0.00
IGL02524:Sult2a6	APN	7	13,970,611 (GRCm39)	missense	possibly damaging	0.80
IGL03209:Sult2a6	APN	7	13,959,897 (GRCm39)	missense	probably benign	0.36
IGL03379:Sult2a6	APN	7	13,956,511 (GRCm39)	missense	probably benign	0.01
R1840:Sult2a6	UTSW	7	13,988,754 (GRCm39)	missense	probably benign	0.03
R1893:Sult2a6	UTSW	7	13,959,814 (GRCm39)	missense	probably benign	0.00
R2037:Sult2a6	UTSW	7	13,988,634 (GRCm39)	missense	probably damaging	0.99
R2331:Sult2a6	UTSW	7	13,959,795 (GRCm39)	missense	possibly damaging	0.94
R3871:Sult2a6	UTSW	7	13,988,701 (GRCm39)	missense	probably benign	0.16
R3921:Sult2a6	UTSW	7	13,988,668 (GRCm39)	missense	possibly damaging	0.83
R5599:Sult2a6	UTSW	7	13,988,629 (GRCm39)	nonsense	probably null
R5761:Sult2a6	UTSW	7	13,984,283 (GRCm39)	missense	probably damaging	0.97
R6956:Sult2a6	UTSW	7	13,988,748 (GRCm39)	missense	possibly damaging	0.50
R7152:Sult2a6	UTSW	7	13,956,445 (GRCm39)	missense	probably benign	0.36
R7869:Sult2a6	UTSW	7	13,988,737 (GRCm39)	missense	not run
R7990:Sult2a6	UTSW	7	13,959,795 (GRCm39)	missense	possibly damaging	0.94
R8347:Sult2a6	UTSW	7	13,959,883 (GRCm39)	missense	probably benign	0.15
R8369:Sult2a6	UTSW	7	13,987,327 (GRCm39)	critical splice donor site	probably null
R8391:Sult2a6	UTSW	7	13,956,516 (GRCm39)	critical splice acceptor site	probably null
R8414:Sult2a6	UTSW	7	13,984,357 (GRCm39)	missense	probably damaging	1.00
R9317:Sult2a6	UTSW	7	13,970,615 (GRCm39)	nonsense	probably null
R9654:Sult2a6	UTSW	7	13,956,445 (GRCm39)	missense	probably benign	0.06
Z1088:Sult2a6	UTSW	7	13,959,819 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCACAATTCCACAACAGGATT -3'
(R):5'- ATTTTCACAGAGGGAGAAGTCTG -3'

Sequencing Primer
(F):5'- CCACAACAGGATTTATTCTATGACCG -3'
(R):5'- TTCAGGACTTAAGAATGTTTCTACAG -3'

Posted On

2018-08-29