Mutagenetix > Incidental Mutation

Incidental Mutation 'R4116:Sult2a2'

314633

Institutional Source

Beutler Lab

Gene Symbol

Sult2a2

Ensembl Gene

ENSMUSG00000070811

Gene Name

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

Synonyms

mSTa2, Sth2, C730007P19Rik

MMRRC Submission

040859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13467431-13513562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13468708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 58 (Q58L)

Ref Sequence

ENSEMBL: ENSMUSP00000083317 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086148
AA Change: Q58L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000083317
Gene: ENSMUSG00000070811
AA Change: Q58L

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	162	2.3e-37	PFAM
Pfam:Sulfotransfer_1	157	187	1.3e-8	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,817 (GRCm39)	F395L	possibly damaging	Het
Amigo1	C	T	3: 108,095,761 (GRCm39)	T420I	probably damaging	Het
Ankrd34c	A	G	9: 89,611,927 (GRCm39)	L138P	probably damaging	Het
Cald1	C	T	6: 34,722,654 (GRCm39)	R107C	probably damaging	Het
Cast	C	T	13: 74,872,956 (GRCm39)	E444K	probably damaging	Het
Ccdc121rt2	A	G	5: 112,598,377 (GRCm39)	E308G	probably damaging	Het
Crybg1	T	G	10: 43,875,158 (GRCm39)	N650T	possibly damaging	Het
Cyp19a1	T	A	9: 54,076,025 (GRCm39)	R276S	possibly damaging	Het
Cyp2c66	A	G	19: 39,165,003 (GRCm39)	D328G	possibly damaging	Het
Hectd1	A	T	12: 51,815,506 (GRCm39)	L1527*	probably null	Het
Hoxd13	C	A	2: 74,498,832 (GRCm39)	A60E	possibly damaging	Het
Igkv3-7	G	T	6: 70,584,923 (GRCm39)	G88C	probably damaging	Het
Kcnk12	GGCATCGC	GGCATCGCATCGC	17: 88,053,584 (GRCm39)		probably null	Het
Klhl30	C	A	1: 91,281,830 (GRCm39)	Q144K	probably benign	Het
Kprp	A	T	3: 92,731,275 (GRCm39)	S592T	probably damaging	Het
Man2c1	T	C	9: 57,047,589 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,268,391 (GRCm39)	M260K	probably benign	Het
Morc3	G	A	16: 93,670,227 (GRCm39)	D801N	probably benign	Het
Mpped1	A	G	15: 83,680,910 (GRCm39)		probably benign	Het
Mtcl1	T	C	17: 66,673,476 (GRCm39)	T767A	probably benign	Het
Nek5	G	A	8: 22,601,178 (GRCm39)	T181M	probably damaging	Het
Nomo1	T	C	7: 45,683,320 (GRCm39)	I22T	probably benign	Het
Or7g27	T	G	9: 19,249,940 (GRCm39)	F61L	probably benign	Het
Plin4	A	G	17: 56,409,113 (GRCm39)	V1369A	probably benign	Het
Polr3c	A	T	3: 96,622,560 (GRCm39)	F365Y	probably damaging	Het
Sec22a	A	G	16: 35,139,202 (GRCm39)	F232S	probably damaging	Het
Sema4f	G	A	6: 82,894,887 (GRCm39)	T436M	probably benign	Het
Sf3a2	A	G	10: 80,637,175 (GRCm39)	T37A	probably damaging	Het
Slc1a6	A	G	10: 78,623,723 (GRCm39)	M41V	probably benign	Het
Sptbn4	C	T	7: 27,090,995 (GRCm39)	E1399K	probably damaging	Het
Sspo	T	C	6: 48,433,928 (GRCm39)	L911P	probably damaging	Het
Syne2	A	T	12: 75,977,853 (GRCm39)	I1433F	probably damaging	Het
Synm	C	T	7: 67,384,405 (GRCm39)	V644I	possibly damaging	Het
Tbc1d5	A	G	17: 51,227,615 (GRCm39)	L210P	probably damaging	Het
Trak1	T	C	9: 121,277,909 (GRCm39)	Y229H	probably damaging	Het
Unc5b	G	T	10: 60,610,479 (GRCm39)	T446K	probably damaging	Het
Wdr95	C	A	5: 149,521,040 (GRCm39)	D604E	probably benign	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het

Other mutations in Sult2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00541:Sult2a2	APN	7	13,468,684 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACGTTTGCACTTATGTCACAC -3'
(R):5'- CTCCAGGACTTGTCAGGTAAAATAAG -3'

Sequencing Primer
(F):5'- CTTGAAATTGGGCAGCAC -3'
(R):5'- ATCACTGGACACTGACCTTGG -3'

Posted On

2015-05-14