Mutagenetix > Incidental Mutation

Incidental Mutation 'R8391:Sult2a6'

647382

Institutional Source

Beutler Lab

Gene Symbol

Sult2a6

Ensembl Gene

ENSMUSG00000070810

Gene Name

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

Synonyms

Gm6957

MMRRC Submission

067756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8391 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13956328-13988795 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 13956516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075884 (fasta)

Gene Model

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

AlphaFold

B2RVI8

Predicted Effect

probably null
Transcript: ENSMUST00000076576

SMART Domains

Protein: ENSMUSP00000075884
Gene: ENSMUSG00000070810

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 null
Transcript: ENSMUST00000184731

SMART Domains

Protein: ENSMUSP00000138842
Gene: ENSMUSG00000070810

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,368,968 (GRCm39)	S155P	possibly damaging	Het
Akr1c21	C	T	13: 4,626,278 (GRCm39)	R101W	probably damaging	Het
Angpt1	T	A	15: 42,375,794 (GRCm39)	N154I	probably damaging	Het
Aoc1l2	T	C	6: 48,909,602 (GRCm39)	W616R	probably damaging	Het
Atp2a1	T	A	7: 126,047,888 (GRCm39)	I641F	possibly damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bltp3b	T	C	10: 89,645,605 (GRCm39)	V1226A	possibly damaging	Het
Cacna1b	G	A	2: 24,596,212 (GRCm39)	A493V	probably damaging	Het
Cacna1h	G	A	17: 25,596,204 (GRCm39)	A1939V	probably benign	Het
Cacna2d4	A	G	6: 119,325,706 (GRCm39)	I1027V	probably benign	Het
Cbln3	G	A	14: 56,120,523 (GRCm39)	R170C	probably damaging	Het
Cemip	T	C	7: 83,604,517 (GRCm39)	S842G	probably damaging	Het
Cep164	T	A	9: 45,718,491 (GRCm39)	Q284L	unknown	Het
Crybg2	T	C	4: 133,803,035 (GRCm39)	F889L	probably damaging	Het
Fhip1a	T	C	3: 85,595,788 (GRCm39)	N366D	probably damaging	Het
Gars1	T	A	6: 55,025,127 (GRCm39)	Y124N	probably damaging	Het
Gbp2b	T	C	3: 142,309,894 (GRCm39)	F228S	probably damaging	Het
Gm5565	C	A	5: 146,096,962 (GRCm39)	R59L	probably benign	Het
Gm8947	A	T	1: 151,068,737 (GRCm39)	D190V	probably benign	Het
Grid2ip	T	C	5: 143,365,951 (GRCm39)	M543T	probably damaging	Het
Gucy2c	A	G	6: 136,681,213 (GRCm39)	L957P	probably damaging	Het
Hint1	T	C	11: 54,757,368 (GRCm39)	I18T	possibly damaging	Het
Il23r	T	C	6: 67,429,374 (GRCm39)	S323G	probably benign	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnj1	A	T	9: 32,308,028 (GRCm39)	T151S	probably damaging	Het
Kdm1a	G	T	4: 136,281,154 (GRCm39)	T685K	probably benign	Het
Lipo4	T	A	19: 33,488,965 (GRCm39)	H206L	probably benign	Het
Lrp5	A	G	19: 3,654,185 (GRCm39)	Y1081H	probably damaging	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Nhsl1	C	T	10: 18,400,691 (GRCm39)	T605I	possibly damaging	Het
Or1af1	T	A	2: 37,110,277 (GRCm39)	Y259N	probably damaging	Het
Or1j21	C	T	2: 36,684,096 (GRCm39)	P283S	probably damaging	Het
Pkmyt1	C	T	17: 23,954,013 (GRCm39)	R307C	probably damaging	Het
Plppr4	T	C	3: 117,129,060 (GRCm39)	I136V	probably benign	Het
Ppp1r12c	A	C	7: 4,500,431 (GRCm39)	Y150D	probably damaging	Het
Qrich2	C	G	11: 116,356,403 (GRCm39)	V149L	probably benign	Het
R3hdm1	T	C	1: 128,121,215 (GRCm39)	F176L		Het
Ric8a	T	A	7: 140,437,916 (GRCm39)	S52T	probably benign	Het
Romo1	G	T	2: 155,986,340 (GRCm39)		probably benign	Het
Rps6ka1	G	A	4: 133,591,346 (GRCm39)	H318Y	probably damaging	Het
Slc43a3	A	G	2: 84,768,151 (GRCm39)	N41S	probably benign	Het
Srrm4	T	G	5: 116,582,755 (GRCm39)	T567P	unknown	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
St6galnac4	G	T	2: 32,484,086 (GRCm39)	D95Y	probably damaging	Het
Synj2	A	G	17: 5,991,796 (GRCm39)	E24G	probably damaging	Het
Try10	T	G	6: 41,334,306 (GRCm39)	L166R	probably damaging	Het
Ttn	A	G	2: 76,562,544 (GRCm39)	V28767A	probably damaging	Het
Ttn	T	A	2: 76,604,822 (GRCm39)	I18371F	probably damaging	Het
Zc3h13	T	A	14: 75,568,625 (GRCm39)	L1306Q	probably damaging	Het
Zp2	T	A	7: 119,726,179 (GRCm39)	T674S	probably benign	Het
Zscan4-ps3	A	G	7: 11,346,801 (GRCm39)	Y279C	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
R6744:Sult2a6	UTSW	7	13,956,470 (GRCm39)	missense	probably damaging	1.00
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
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'- CAACAGGATTTATTCTATGACCGC -3'
(R):5'- TGGGACATAATTTTCACAGAGGG -3'

Sequencing Primer
(F):5'- CTATGACCGCATTCAAGATATAGC -3'
(R):5'- TTTTCACAGAGGGAGAAGTCTG -3'

Posted On

2020-09-02