Mutagenetix > Incidental Mutations

Incidental Mutation 'R1613:Sult2a4'

176931

Institutional Source

Beutler Lab

Gene Symbol

Sult2a4

Ensembl Gene

ENSMUSG00000074377

Gene Name

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

Synonyms

Gm5584

MMRRC Submission

039650-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13909676-13989607 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13989495 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 32 (K32E)

Ref Sequence

ENSEMBL: ENSMUSP00000130490 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108520
AA Change: K33E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104160
Gene: ENSMUSG00000074377
AA Change: K33E

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 damaging
Transcript: ENSMUST00000165167
AA Change: K32E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130490
Gene: ENSMUSG00000074377
AA Change: K32E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

82% (69/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Aldh3a1	A	T	11: 61,214,551	D161V	probably damaging	Het
Aloxe3	A	G	11: 69,130,046	D199G	possibly damaging	Het
Amfr	T	A	8: 93,999,226	M176L	probably benign	Het
Amigo1	A	T	3: 108,188,220	E345V	probably benign	Het
Atp13a3	T	C	16: 30,332,300	Y1064C	probably damaging	Het
AU019823	T	C	9: 50,607,805	K169R	probably damaging	Het
Brd7	A	T	8: 88,346,950	C271S	probably benign	Het
Bub1b	T	A	2: 118,639,741		probably null	Het
Ccdc146	T	A	5: 21,294,524	I887F	probably damaging	Het
Ceacam14	T	C	7: 17,814,048		probably benign	Het
Cntn1	T	A	15: 92,245,990	V278E	possibly damaging	Het
Col6a6	A	C	9: 105,732,211		probably null	Het
Cspp1	C	T	1: 10,133,241	R1016C	probably damaging	Het
Cyp2c39	A	G	19: 39,539,011	Y267C	probably damaging	Het
Cyp2c67	C	T	19: 39,626,199	V295I	probably benign	Het
Cyp2d40	T	C	15: 82,761,439	T122A	unknown	Het
Dmxl2	A	G	9: 54,382,027	I2541T	probably benign	Het
Eif3e	G	A	15: 43,250,224	A438V	possibly damaging	Het
Fam178b	C	A	1: 36,600,192	W342L	probably benign	Het
Fam45a	T	A	19: 60,822,325	V171D	possibly damaging	Het
Fam78a	G	T	2: 32,069,569	N176K	probably damaging	Het
Ghrhr	A	T	6: 55,379,697	K93M	probably damaging	Het
Gm1527	T	A	3: 28,898,853		probably null	Het
Gm1553	G	A	10: 82,492,596		probably benign	Het
Gm5885	G	A	6: 133,531,242		noncoding transcript	Het
Gm8674	G	A	13: 49,902,438		noncoding transcript	Het
Hoxc6	C	T	15: 103,009,585		probably benign	Het
Ino80	T	C	2: 119,392,867	T1189A	probably damaging	Het
Iqgap1	T	C	7: 80,768,457	E55G	probably damaging	Het
Kcnh2	G	A	5: 24,322,762		probably benign	Het
Lama1	G	A	17: 67,807,923	G2356S	probably benign	Het
Mdfic	T	A	6: 15,799,590		probably null	Het
Me3	T	C	7: 89,786,420		probably benign	Het
Mmadhc	T	C	2: 50,280,326	D258G	probably damaging	Het
Nfe2	T	C	15: 103,249,129	D145G	probably damaging	Het
Olfr1039	A	T	2: 86,131,063	L200Q	probably damaging	Het
Olfr1200	T	C	2: 88,767,805	N170S	probably damaging	Het
Olfr1377	T	A	11: 50,985,218	N172K	probably damaging	Het
Olfr1391	A	G	11: 49,327,693	Y94C	probably damaging	Het
Olfr1404	C	T	1: 173,215,867	T72I	probably benign	Het
Olfr352	A	C	2: 36,870,393	I276L	possibly damaging	Het
Olfr728	A	C	14: 50,140,294	L115R	probably damaging	Het
P4ha3	A	T	7: 100,313,250	D405V	possibly damaging	Het
Palmd	T	C	3: 116,923,504	D448G	probably damaging	Het
Pclo	T	C	5: 14,679,132		probably benign	Het
Pcsk6	A	G	7: 65,910,311		probably benign	Het
Pidd1	T	C	7: 141,440,777	E469G	probably damaging	Het
Ptpn13	A	G	5: 103,536,871	D875G	possibly damaging	Het
Rasgrf2	A	G	13: 91,902,621	L886P	probably damaging	Het
Scrib	G	A	15: 76,048,542	R1454C	probably damaging	Het
Slc24a1	A	G	9: 64,948,696	S310P	unknown	Het
Slc44a5	A	G	3: 154,257,714		probably null	Het
Snx4	T	G	16: 33,286,046	M283R	probably damaging	Het
Snx7	A	T	3: 117,829,573		probably benign	Het
Stk19	A	T	17: 34,824,598	L212H	probably damaging	Het
Tfrc	T	A	16: 32,623,375	Y473N	probably damaging	Het
Tlr2	C	G	3: 83,837,353	L474F	probably damaging	Het
Tnfrsf4	T	A	4: 156,016,162	F213I	probably benign	Het
Trim9	A	T	12: 70,248,395	I651N	probably damaging	Het
Vmn1r84	T	A	7: 12,362,533	I78L	possibly damaging	Het
Vmn2r77	T	C	7: 86,811,148	Y561H	probably damaging	Het
Vmn2r95	A	G	17: 18,440,639		probably benign	Het
Zfp11	T	C	5: 129,658,367	N10S	probably benign	Het
Zfp81	A	T	17: 33,334,783	H352Q	probably damaging	Het
Zscan5b	T	A	7: 6,230,375	L66Q	probably damaging	Het

Other mutations in Sult2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Sult2a4	APN	7	13984945	missense	probably damaging	1.00
IGL00835:Sult2a4	APN	7	13909789	missense	probably benign	0.01
IGL02078:Sult2a4	APN	7	13989544	missense	probably benign	0.02
IGL02409:Sult2a4	APN	7	13984919	nonsense	probably null
IGL02970:Sult2a4	APN	7	13909906	splice site	probably benign
IGL03201:Sult2a4	APN	7	13931767	missense	probably damaging	0.97
R0827:Sult2a4	UTSW	7	13984961	missense	probably benign	0.03
R1484:Sult2a4	UTSW	7	13909801	missense	probably benign
R1523:Sult2a4	UTSW	7	13909860	nonsense	probably null
R2127:Sult2a4	UTSW	7	13915260	missense	probably damaging	0.99
R2372:Sult2a4	UTSW	7	13915300	missense	probably benign	0.15
R3161:Sult2a4	UTSW	7	13989471	missense	probably benign	0.17
R5181:Sult2a4	UTSW	7	13988391	missense	probably benign	0.04
R7124:Sult2a4	UTSW	7	13988395	nonsense	probably null
X0028:Sult2a4	UTSW	7	13988241	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCATATTCTGCCTCATGGAGC -3'
(R):5'- AAGCTGAATAGGTGTCCTGGGCTG -3'

Sequencing Primer
(F):5'- TCTGTCCACATAGGTCAGATAGAG -3'
(R):5'- GGGCTGGAATTCTAACAGCA -3'

Posted On

2014-04-24