Mutagenetix > Incidental Mutation

Incidental Mutation 'R8214:Sult2a4'

636307

Institutional Source

Beutler Lab

Gene Symbol

Sult2a4

Ensembl Gene

ENSMUSG00000074377

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 4

Synonyms

Gm5584

MMRRC Submission

067656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13643602-13723516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13723401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 39 (I39T)

Ref Sequence

ENSEMBL: ENSMUSP00000104160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108520] [ENSMUST00000165167]

AlphaFold

L7N245

Predicted Effect

probably benign
Transcript: ENSMUST00000108520
AA Change: I39T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104160
Gene: ENSMUSG00000074377
AA Change: I39T

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_3	5	205	1.5e-10	PFAM
Pfam:Sulfotransfer_1	34	278	1.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165167
AA Change: I38T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130490
Gene: ENSMUSG00000074377
AA Change: I38T

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	33	277	1.3e-82	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,177,447 (GRCm39)	R52Q		Het
Abcc3	C	T	11: 94,254,344 (GRCm39)	R718H	probably damaging	Het
Abcc4	T	C	14: 118,738,253 (GRCm39)	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,135,983 (GRCm39)	T295I	probably damaging	Het
Amph	A	G	13: 19,288,468 (GRCm39)	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,313,944 (GRCm39)	D425G	probably damaging	Het
Atg4b	T	C	1: 93,712,609 (GRCm39)	S316P	probably damaging	Het
Brd4	A	G	17: 32,431,921 (GRCm39)	S649P	probably benign	Het
Bzw1	T	C	1: 58,444,196 (GRCm39)	S411P	probably damaging	Het
Carmil1	T	C	13: 24,228,215 (GRCm39)	E987G	probably damaging	Het
Dnah6	T	C	6: 73,021,711 (GRCm39)	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,292,642 (GRCm39)	W126R	probably damaging	Het
Efcab2	T	C	1: 178,265,015 (GRCm39)	V27A	probably benign	Het
Kctd21	T	C	7: 96,996,548 (GRCm39)	L7P	probably damaging	Het
Kidins220	C	T	12: 25,044,854 (GRCm39)	T216I	probably damaging	Het
Lpl	T	A	8: 69,345,257 (GRCm39)	M87K	probably damaging	Het
Ltn1	A	G	16: 87,177,691 (GRCm39)	V1646A	probably benign	Het
Madcam1	A	G	10: 79,502,592 (GRCm39)	T359A	probably benign	Het
Muc5ac	A	G	7: 141,356,685 (GRCm39)	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,329,729 (GRCm39)	E162G	probably benign	Het
Or10ak11	A	T	4: 118,687,288 (GRCm39)	F117L	probably benign	Het
Or52e2	A	C	7: 102,804,613 (GRCm39)	S114A	probably damaging	Het
Or5p54	T	A	7: 107,554,174 (GRCm39)	S109T	probably benign	Het
Pcdhb5	G	T	18: 37,454,636 (GRCm39)	V339L	probably benign	Het
Plec	A	G	15: 76,076,484 (GRCm39)	W145R	unknown	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Skint5	T	C	4: 113,662,139 (GRCm39)		probably null	Het
Slc12a2	A	G	18: 58,070,791 (GRCm39)	I1048V	probably benign	Het
Tenm4	T	C	7: 96,544,614 (GRCm39)	V2247A	probably damaging	Het
Tg	C	T	15: 66,645,247 (GRCm39)	R2385C	probably damaging	Het
Tomm70a	G	T	16: 56,942,330 (GRCm39)	A36S	unknown	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tut4	A	G	4: 108,369,347 (GRCm39)	I636V	probably benign	Het
Unc45b	A	G	11: 82,824,714 (GRCm39)	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,300,424 (GRCm39)	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,286,301 (GRCm39)	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,448,775 (GRCm39)	E134A	probably benign	Het
Wdr70	G	A	15: 7,916,851 (GRCm39)	A522V	probably benign	Het
Zfp184	T	A	13: 22,142,995 (GRCm39)	C234S	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Sult2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Sult2a4	APN	7	13,718,870 (GRCm39)	missense	probably damaging	1.00
IGL00835:Sult2a4	APN	7	13,643,714 (GRCm39)	missense	probably benign	0.01
IGL02078:Sult2a4	APN	7	13,723,469 (GRCm39)	missense	probably benign	0.02
IGL02409:Sult2a4	APN	7	13,718,844 (GRCm39)	nonsense	probably null
IGL02970:Sult2a4	APN	7	13,643,831 (GRCm39)	splice site	probably benign
IGL03201:Sult2a4	APN	7	13,665,692 (GRCm39)	missense	probably damaging	0.97
R0827:Sult2a4	UTSW	7	13,718,886 (GRCm39)	missense	probably benign	0.03
R1484:Sult2a4	UTSW	7	13,643,726 (GRCm39)	missense	probably benign
R1523:Sult2a4	UTSW	7	13,643,785 (GRCm39)	nonsense	probably null
R1613:Sult2a4	UTSW	7	13,723,420 (GRCm39)	missense	probably damaging	0.98
R2127:Sult2a4	UTSW	7	13,649,185 (GRCm39)	missense	probably damaging	0.99
R2372:Sult2a4	UTSW	7	13,649,225 (GRCm39)	missense	probably benign	0.15
R3161:Sult2a4	UTSW	7	13,723,396 (GRCm39)	missense	probably benign	0.17
R5181:Sult2a4	UTSW	7	13,722,316 (GRCm39)	missense	probably benign	0.04
R7124:Sult2a4	UTSW	7	13,722,320 (GRCm39)	nonsense	probably null
R7983:Sult2a4	UTSW	7	13,649,152 (GRCm39)	missense	probably damaging	1.00
R9508:Sult2a4	UTSW	7	13,723,437 (GRCm39)	missense	probably benign	0.01
X0028:Sult2a4	UTSW	7	13,722,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACAATCATTGTTCTGGTGC -3'
(R):5'- TTGCTATAAGCTGAATAGGTGTCC -3'

Sequencing Primer
(F):5'- CACAATCATTGTTCTGGTGCCATAG -3'
(R):5'- CTGGGCTGGAATTCTAACAGCATC -3'

Posted On

2020-07-13