Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02532:Sult2a8'

297364

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sult2a8

Ensembl Gene

ENSMUSG00000030378

Gene Name

sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 8

Synonyms

2810007J24Rik, mL-STL

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

14144611-14180694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14150183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 176 (R176K)

Ref Sequence

ENSEMBL: ENSMUSP00000128428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063509] [ENSMUST00000125941] [ENSMUST00000168252] [ENSMUST00000209425]

AlphaFold

Q8BGL3

Predicted Effect

probably benign
Transcript: ENSMUST00000063509
AA Change: R176K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000066897
Gene: ENSMUSG00000030378
AA Change: R176K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	275	1.6e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125941
AA Change: R176K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000116469
Gene: ENSMUSG00000030378
AA Change: R176K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	189	4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168252
AA Change: R176K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128428
Gene: ENSMUSG00000030378
AA Change: R176K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	34	275	1.6e-73	PFAM
Pfam:Sulfotransfer_3	36	205	6.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209425

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	T	C	7: 28,947,645 (GRCm39)	K15E	possibly damaging	Het
Abca2	A	G	2: 25,325,148 (GRCm39)	T381A	probably benign	Het
Adcy1	T	A	11: 7,094,737 (GRCm39)	N554K	probably benign	Het
Adcy5	A	G	16: 35,092,453 (GRCm39)	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,664,021 (GRCm39)	S754*	probably null	Het
Arhgef28	T	A	13: 98,166,391 (GRCm39)	D319V	probably damaging	Het
Brca2	A	G	5: 150,474,327 (GRCm39)	D2410G	probably damaging	Het
Carmil2	T	A	8: 106,419,063 (GRCm39)		probably null	Het
Catip	A	G	1: 74,403,775 (GRCm39)	N189S	probably damaging	Het
Cd177	T	C	7: 24,444,674 (GRCm39)	K636E	probably benign	Het
Cep290	A	G	10: 100,380,927 (GRCm39)	T145A	probably benign	Het
Cthrc1	T	C	15: 38,940,560 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fas	C	A	19: 34,293,999 (GRCm39)	T118N	probably damaging	Het
Fgd3	G	A	13: 49,439,237 (GRCm39)	A253V	probably damaging	Het
Fig4	A	G	10: 41,161,277 (GRCm39)		probably benign	Het
Fubp3	T	C	2: 31,490,571 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,614,306 (GRCm39)	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,604,278 (GRCm39)	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,463,081 (GRCm39)		probably benign	Het
Ighv6-5	T	A	12: 114,380,424 (GRCm39)	D50V	probably benign	Het
Inpp5k	T	C	11: 75,524,010 (GRCm39)		probably benign	Het
Kalrn	T	C	16: 34,181,216 (GRCm39)	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,103,517 (GRCm39)	T389A	probably benign	Het
Klhl6	C	A	16: 19,775,832 (GRCm39)	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,286,314 (GRCm39)		probably benign	Het
Krt13	A	T	11: 100,010,195 (GRCm39)	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171 (GRCm39)	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,577,788 (GRCm39)	S297P	probably benign	Het
Ndufs1	G	A	1: 63,209,298 (GRCm39)	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,109,398 (GRCm39)	S115T	possibly damaging	Het
Nup50l	A	C	6: 96,141,771 (GRCm39)	S424R	probably damaging	Het
Pfpl	A	T	19: 12,406,209 (GRCm39)	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Psme1	T	A	14: 55,818,595 (GRCm39)	Y223*	probably null	Het
R3hdm1	T	C	1: 128,124,836 (GRCm39)		probably null	Het
Rnf103	A	G	6: 71,486,809 (GRCm39)	D480G	probably benign	Het
Rnf103	T	G	6: 71,486,636 (GRCm39)	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,523,365 (GRCm39)	V213A	probably damaging	Het
Sort1	G	T	3: 108,233,036 (GRCm39)	K203N	probably benign	Het
Sugp1	A	T	8: 70,512,469 (GRCm39)	K239N	possibly damaging	Het
Usp34	T	A	11: 23,320,291 (GRCm39)	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,934,135 (GRCm39)	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,219,639 (GRCm39)	T303K	probably benign	Het

Other mutations in Sult2a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01558:Sult2a8	APN	7	14,159,377 (GRCm39)	nonsense	probably null
IGL01904:Sult2a8	APN	7	14,159,382 (GRCm39)	missense	probably damaging	1.00
IGL02060:Sult2a8	APN	7	14,159,326 (GRCm39)	missense	probably damaging	1.00
IGL02663:Sult2a8	APN	7	14,159,368 (GRCm39)	missense	possibly damaging	0.52
IGL02803:Sult2a8	APN	7	14,145,630 (GRCm39)	utr 3 prime	probably benign
R1070:Sult2a8	UTSW	7	14,147,698 (GRCm39)	missense	probably damaging	0.99
R1251:Sult2a8	UTSW	7	14,159,350 (GRCm39)	nonsense	probably null
R1465:Sult2a8	UTSW	7	14,150,208 (GRCm39)	missense	probably benign	0.00
R1465:Sult2a8	UTSW	7	14,150,208 (GRCm39)	missense	probably benign	0.00
R1799:Sult2a8	UTSW	7	14,157,451 (GRCm39)	missense	probably damaging	1.00
R2196:Sult2a8	UTSW	7	14,161,778 (GRCm39)	missense	probably benign	0.00
R4233:Sult2a8	UTSW	7	14,147,608 (GRCm39)	missense	probably benign	0.01
R4713:Sult2a8	UTSW	7	14,159,402 (GRCm39)	missense	probably benign	0.02
R4964:Sult2a8	UTSW	7	14,159,457 (GRCm39)	missense	probably damaging	0.98
R5114:Sult2a8	UTSW	7	14,147,584 (GRCm39)	missense	probably benign	0.01
R5330:Sult2a8	UTSW	7	14,147,679 (GRCm39)	missense	possibly damaging	0.53
R5439:Sult2a8	UTSW	7	14,159,439 (GRCm39)	missense	probably damaging	1.00
R5662:Sult2a8	UTSW	7	14,161,765 (GRCm39)	missense	probably benign	0.13
R7353:Sult2a8	UTSW	7	14,147,640 (GRCm39)	missense	possibly damaging	0.95
R7366:Sult2a8	UTSW	7	14,150,254 (GRCm39)	splice site	probably null
R7832:Sult2a8	UTSW	7	14,147,596 (GRCm39)	missense	probably benign	0.02
R9499:Sult2a8	UTSW	7	14,157,487 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16