Mutagenetix > Incidental Mutations

Incidental Mutation 'R5444:Sult2a1'

427337

Institutional Source

Beutler Lab

Gene Symbol

Sult2a1

Ensembl Gene

ENSMUSG00000078798

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 1

Synonyms

Std, Sth1, mSTa1

MMRRC Submission

043009-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13796246-13837409 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13836019 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 96 (I96K)

Ref Sequence

ENSEMBL: ENSMUSP00000104162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108522]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108522
AA Change: I96K

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104162
Gene: ENSMUSG00000078798
AA Change: I96K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	278	4.6e-83	PFAM
Pfam:Sulfotransfer_3	35	205	5.8e-11	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,726,384	T826I	possibly damaging	Het
4930584F24Rik	A	G	5: 26,479,737		noncoding transcript	Het
5430403G16Rik	A	T	5: 109,675,636	Y649*	probably null	Het
Adam11	A	G	11: 102,772,848	Q284R	probably damaging	Het
Adamts17	T	A	7: 67,041,899	H610Q	probably benign	Het
Alg6	A	G	4: 99,741,579	Y131C	probably benign	Het
Apol9b	T	C	15: 77,735,763	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040	I425N	probably damaging	Het
Atic	T	C	1: 71,576,717	L474P	probably damaging	Het
B3glct	C	T	5: 149,746,520	T318I	probably damaging	Het
Bbs7	T	C	3: 36,612,050	K22E	possibly damaging	Het
BC037034	A	T	5: 138,260,998		probably null	Het
Cdk17	T	G	10: 93,217,961		probably null	Het
Cemip	T	A	7: 83,982,291	T438S	probably damaging	Het
Chd2	T	C	7: 73,473,085	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,792,538	D202E	probably benign	Het
Dhdds	G	A	4: 133,971,136	R295*	probably null	Het
Eef2kmt	G	A	16: 5,249,095		probably benign	Het
Fn3krp	G	A	11: 121,421,604		probably null	Het
Gjc3	G	A	5: 137,957,547	L159F	probably damaging	Het
Gm28434	T	C	5: 87,979,288		probably benign	Het
Gp2	G	A	7: 119,454,598	P47S	possibly damaging	Het
Irf7	C	T	7: 141,264,819		probably benign	Het
Itgb8	T	C	12: 119,237,838		probably benign	Het
Kcnb2	A	T	1: 15,711,492	I863F	probably benign	Het
Lamb1	T	C	12: 31,298,909	F647L	possibly damaging	Het
Mccc1	T	A	3: 35,976,742	M392L	probably benign	Het
Mtmr10	T	C	7: 64,288,401		probably null	Het
Ncstn	A	C	1: 172,072,839	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,269,490	F80L	probably damaging	Het
Nf1	T	C	11: 79,443,959	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,534,890		probably benign	Het
Nnat	T	C	2: 157,561,217	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,375,251	Y109C	probably damaging	Het
Nup205	T	A	6: 35,189,189	D194E	probably damaging	Het
Olfr1012	A	T	2: 85,759,919	F152L	probably benign	Het
Olfr1333	T	A	4: 118,830,111	I109L	probably benign	Het
Olfr1463	A	T	19: 13,234,958	Q236L	probably benign	Het
Olfr399	T	C	11: 74,053,977	S261G	probably benign	Het
Olfr552	C	T	7: 102,604,869	R172*	probably null	Het
Ostf1	A	G	19: 18,581,313	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,770,925	M747K	probably damaging	Het
Plxnb1	A	G	9: 109,106,453	D1019G	probably benign	Het
Pnlip	A	G	19: 58,673,163	I95V	probably benign	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,838,688	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,503,375	I357F	probably damaging	Het
Rbmxl2	G	C	7: 107,209,837	G110R	probably damaging	Het
Rgs22	T	C	15: 36,015,627	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,135,843	I107M	probably benign	Het
Rybp	A	T	6: 100,287,270	M3K	probably damaging	Het
Sgo2b	T	C	8: 63,926,556	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 83,035,287		noncoding transcript	Het
Spag17	T	C	3: 100,056,152	V1062A	probably benign	Het
Tbc1d5	A	G	17: 50,735,967	I831T	probably damaging	Het
Thbs3	T	C	3: 89,223,385		probably benign	Het
Tmub2	T	C	11: 102,288,240	L255S	possibly damaging	Het
Trank1	T	A	9: 111,392,958	L2921Q	probably benign	Het
Tuba8	A	T	6: 121,226,101		probably benign	Het
Vmn2r25	T	C	6: 123,828,492	I469V	probably benign	Het

Other mutations in Sult2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Sult2a1	APN	7	13832640	missense	probably benign	0.02
IGL00990:Sult2a1	APN	7	13804036	missense	probably benign
IGL01322:Sult2a1	APN	7	13832679	nonsense	probably null
IGL02558:Sult2a1	APN	7	13832595	missense	probably benign	0.03
IGL03033:Sult2a1	APN	7	13832710	splice site	probably benign
IGL03199:Sult2a1	APN	7	13832660	missense	probably damaging	1.00
R1633:Sult2a1	UTSW	7	13801426	missense	probably benign	0.01
R1903:Sult2a1	UTSW	7	13835975	missense	possibly damaging	0.94
R2295:Sult2a1	UTSW	7	13835959	critical splice donor site	probably null
R4207:Sult2a1	UTSW	7	13801547	missense	probably benign	0.00
R6233:Sult2a1	UTSW	7	13832675	missense	probably damaging	1.00
R6317:Sult2a1	UTSW	7	13836020	missense	probably benign	0.00
R6853:Sult2a1	UTSW	7	13801487	missense	possibly damaging	0.50
R7098:Sult2a1	UTSW	7	13816053	splice site	probably null
Z1088:Sult2a1	UTSW	7	13801414	missense	probably benign
Z1088:Sult2a1	UTSW	7	13801435	missense	probably benign	0.00
Z1088:Sult2a1	UTSW	7	13804036	missense	probably benign
Z1176:Sult2a1	UTSW	7	13801414	missense	probably benign
Z1176:Sult2a1	UTSW	7	13801435	missense	probably benign	0.00
Z1176:Sult2a1	UTSW	7	13804036	missense	probably benign
Z1176:Sult2a1	UTSW	7	13835967	missense	probably damaging	1.00
Z1177:Sult2a1	UTSW	7	13796363	frame shift	probably null
Z1177:Sult2a1	UTSW	7	13801414	missense	probably benign
Z1177:Sult2a1	UTSW	7	13801435	missense	probably benign	0.00
Z1177:Sult2a1	UTSW	7	13804036	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGGGAAACATCAGCATCAC -3'
(R):5'- ATGGGCATATATTGTACTTGAGGC -3'

Sequencing Primer
(F):5'- GGGGAAACATCAGCATCACCTATTG -3'
(R):5'- TGTACTTGAGGCTTTTTCACAAG -3'

Posted On

2016-09-01