Mutagenetix > Incidental Mutation

Incidental Mutation 'R6692:Sult2a5'

527914

Institutional Source

Beutler Lab

Gene Symbol

Sult2a5

Ensembl Gene

ENSMUSG00000078799

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 5

Synonyms

Gm15438, EG434264

MMRRC Submission

044810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6692 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13357892-13404732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13358057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 30 (F30I)

Ref Sequence

ENSEMBL: ENSMUSP00000104165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108525]

AlphaFold

K7N6K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000108525
AA Change: F30I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104165
Gene: ENSMUSG00000078799
AA Change: F30I

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	278	2e-82	PFAM
Pfam:Sulfotransfer_3	35	205	3.3e-12	PFAM

Meta Mutation Damage Score

0.5756

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (38/38)

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
Ahcyl1	C	T	3: 107,582,401 (GRCm39)	G54D	probably damaging	Het
Aldh1b1	T	C	4: 45,803,427 (GRCm39)	C322R	probably damaging	Het
Cdc14b	T	C	13: 64,363,377 (GRCm39)	I258V	probably damaging	Het
Cenph	T	C	13: 100,909,243 (GRCm39)	I55V	probably benign	Het
Cep290	T	A	10: 100,405,006 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,563,919 (GRCm39)	Y431C	probably damaging	Het
Cyp4f17	T	C	17: 32,725,950 (GRCm39)	S28P	possibly damaging	Het
Cyp4f40	C	G	17: 32,894,716 (GRCm39)	T427S	possibly damaging	Het
Exoc2	A	G	13: 31,119,490 (GRCm39)	I137T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
G3bp1	T	A	11: 55,384,335 (GRCm39)	D168E	probably benign	Het
Impg2	T	A	16: 56,072,696 (GRCm39)	L376H	probably damaging	Het
Kdm4d	A	T	9: 14,374,361 (GRCm39)	M499K	probably benign	Het
Lonp1	C	T	17: 56,926,230 (GRCm39)	V426M	probably damaging	Het
Lypla2	C	A	4: 135,698,173 (GRCm39)	A26S	probably benign	Het
Map3k13	T	C	16: 21,723,987 (GRCm39)	V323A	possibly damaging	Het
Mdfic2	T	G	6: 98,225,169 (GRCm39)	H38P	possibly damaging	Het
Mov10	A	G	3: 104,725,360 (GRCm39)	L83P	probably damaging	Het
Mphosph9	G	T	5: 124,398,179 (GRCm39)	A1039D	probably damaging	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or10ag55-ps1	A	G	2: 87,139,336 (GRCm39)	T68A	possibly damaging	Het
Pde3a	T	A	6: 141,425,072 (GRCm39)	S623T	probably damaging	Het
Pld1	T	A	3: 28,095,348 (GRCm39)	M227K	probably benign	Het
Rell1	T	G	5: 64,095,210 (GRCm39)	K85N	probably damaging	Het
Rhbdf1	T	C	11: 32,165,652 (GRCm39)	T93A	probably damaging	Het
Sccpdh	T	A	1: 179,511,792 (GRCm39)	M88K	possibly damaging	Het
Siae	T	G	9: 37,554,095 (GRCm39)		probably null	Het
Slc22a16	G	A	10: 40,479,901 (GRCm39)	E637K	unknown	Het
Stk19	C	T	17: 35,043,770 (GRCm39)	G95S	probably benign	Het
Stpg2	G	A	3: 139,228,738 (GRCm39)		probably null	Het
Svil	A	G	18: 5,082,853 (GRCm39)	E748G	probably damaging	Het
Swap70	T	A	7: 109,869,126 (GRCm39)	H306Q	probably benign	Het
Try10	G	A	6: 41,334,755 (GRCm39)	G227D	probably damaging	Het
Ttn	T	C	2: 76,726,713 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,749,436 (GRCm39)	H3871L	probably benign	Het
Vmn1r231	T	C	17: 21,110,745 (GRCm39)	I57V	possibly damaging	Het
Vpreb1a	A	G	16: 16,686,666 (GRCm39)	S75P	probably damaging	Het
Zkscan5	A	G	5: 145,157,894 (GRCm39)		probably null	Het

Other mutations in Sult2a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01757:Sult2a5	APN	7	13,399,079 (GRCm39)	missense	probably damaging	1.00
IGL02352:Sult2a5	APN	7	13,362,727 (GRCm39)	missense	probably benign	0.10
IGL02359:Sult2a5	APN	7	13,362,727 (GRCm39)	missense	probably benign	0.10
IGL02453:Sult2a5	APN	7	13,396,432 (GRCm39)	missense	possibly damaging	0.66
IGL03062:Sult2a5	APN	7	13,358,107 (GRCm39)	critical splice donor site	probably null
R0285:Sult2a5	UTSW	7	13,362,685 (GRCm39)	missense	probably damaging	1.00
R0918:Sult2a5	UTSW	7	13,359,334 (GRCm39)	missense	probably benign	0.12
R1869:Sult2a5	UTSW	7	13,358,045 (GRCm39)	missense	probably benign	0.01
R1917:Sult2a5	UTSW	7	13,404,609 (GRCm39)	missense	probably damaging	1.00
R2117:Sult2a5	UTSW	7	13,359,359 (GRCm39)	missense	probably damaging	1.00
R4867:Sult2a5	UTSW	7	13,357,976 (GRCm39)	missense	probably benign	0.02
R4890:Sult2a5	UTSW	7	13,359,311 (GRCm39)	missense	probably benign	0.06
R4901:Sult2a5	UTSW	7	13,359,188 (GRCm39)	missense	probably benign	0.10
R5236:Sult2a5	UTSW	7	13,398,974 (GRCm39)	missense	probably benign
R6355:Sult2a5	UTSW	7	13,396,462 (GRCm39)	missense	probably benign	0.00
R6735:Sult2a5	UTSW	7	13,398,983 (GRCm39)	nonsense	probably null
R6873:Sult2a5	UTSW	7	13,359,311 (GRCm39)	missense	probably benign	0.00
R7616:Sult2a5	UTSW	7	13,404,607 (GRCm39)	missense	probably benign
R7828:Sult2a5	UTSW	7	13,362,768 (GRCm39)	critical splice donor site	probably null
R9502:Sult2a5	UTSW	7	13,359,243 (GRCm39)	missense	probably benign	0.01
X0024:Sult2a5	UTSW	7	13,399,141 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTAACCTTTGACTGTAGGTGAC -3'
(R):5'- CTGCCCACATATGTCAGACTG -3'

Sequencing Primer
(F):5'- GTAGGTGACAATATTTATTTCTCCCC -3'
(R):5'- TGCCCACATATGTCAGACTGAGTAG -3'

Posted On

2018-07-23