Mutagenetix > Incidental Mutation

Incidental Mutation 'R6440:Sult3a1'

518986

Institutional Source

Beutler Lab

Gene Symbol

Sult3a1

Ensembl Gene

ENSMUSG00000069668

Gene Name

sulfotransferase family 3A, member 1

Synonyms

Sultx2

MMRRC Submission

044578-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R6440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33733717-33755528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33746198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 173 (Y173H)

Ref Sequence

ENSEMBL: ENSMUSP00000151228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092597] [ENSMUST00000218204]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092597
AA Change: Y173H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090259
Gene: ENSMUSG00000069668
AA Change: Y173H

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	36	283	1.8e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217760

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218204
AA Change: Y173H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,101,744 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,942,341 (GRCm39)	Q684*	probably null	Het
Ahi1	T	A	10: 20,835,981 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,133,631 (GRCm39)	T1070A	probably damaging	Het
B3gnt9	C	T	8: 105,980,531 (GRCm39)		probably null	Het
C3ar1	G	T	6: 122,827,467 (GRCm39)	A250E	probably damaging	Het
Caprin2	A	G	6: 148,771,143 (GRCm39)	F284L	probably damaging	Het
Cdc25a	T	C	9: 109,710,566 (GRCm39)	I90T	probably benign	Het
Cdh9	A	T	15: 16,823,509 (GRCm39)	T164S	probably benign	Het
Ces2a	C	T	8: 105,467,954 (GRCm39)	A528V	probably benign	Het
Cyp2c70	T	C	19: 40,145,250 (GRCm39)	N402S	possibly damaging	Het
F3	A	G	3: 121,518,686 (GRCm39)	E50G	probably damaging	Het
Fli1	A	T	9: 32,335,197 (GRCm39)	S412T	probably benign	Het
Flt1	T	A	5: 147,501,115 (GRCm39)	D1306V	possibly damaging	Het
Ggt7	T	C	2: 155,340,731 (GRCm39)	D424G	probably damaging	Het
Grm7	A	T	6: 111,230,981 (GRCm39)	N468I	probably damaging	Het
Htr5a	T	A	5: 28,055,870 (GRCm39)	V287E	probably damaging	Het
Map3k21	T	C	8: 126,637,876 (GRCm39)	V154A	probably damaging	Het
Muc16	A	G	9: 18,552,655 (GRCm39)	V4546A	probably benign	Het
Ncbp1	A	G	4: 46,147,516 (GRCm39)	Y121C	probably damaging	Het
Nckap1l	C	A	15: 103,379,659 (GRCm39)	Y315*	probably null	Het
Ntpcr	T	A	8: 126,471,981 (GRCm39)	S64T	probably damaging	Het
Or1e1c	A	T	11: 73,266,173 (GRCm39)	E202D	probably benign	Het
Or6c215	A	G	10: 129,637,837 (GRCm39)	S186P	probably damaging	Het
Or7e175	T	C	9: 20,048,490 (GRCm39)	F26S	probably damaging	Het
Pate9	T	A	9: 36,453,168 (GRCm39)	M1L	probably benign	Het
Pde4dip	A	G	3: 97,674,902 (GRCm39)	C5R	probably damaging	Het
Pgap2	T	A	7: 101,886,594 (GRCm39)		probably null	Het
Pik3r6	T	C	11: 68,424,522 (GRCm39)	W376R	probably benign	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Pms1	T	C	1: 53,234,180 (GRCm39)	K779E	probably damaging	Het
Prss16	A	G	13: 22,187,330 (GRCm39)	V98A	probably damaging	Het
Robo2	C	T	16: 73,713,010 (GRCm39)	D1287N	probably benign	Het
Sgsm1	A	G	5: 113,426,997 (GRCm39)		probably null	Het
Slc40a1	A	T	1: 45,964,422 (GRCm39)	M1K	probably null	Het
Smo	A	G	6: 29,756,813 (GRCm39)	H437R	possibly damaging	Het
Svep1	T	A	4: 58,116,555 (GRCm39)	R898S	possibly damaging	Het
Synpo2l	A	G	14: 20,718,244 (GRCm39)	V7A	probably damaging	Het
Thsd1	C	T	8: 22,748,569 (GRCm39)	A427V	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,754 (GRCm39)	G164S	probably benign	Het
Zfp235	A	G	7: 23,840,040 (GRCm39)	K153R	probably damaging	Het

Other mutations in Sult3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Sult3a1	APN	10	33,755,205 (GRCm39)	nonsense	probably null
IGL02269:Sult3a1	APN	10	33,755,259 (GRCm39)	missense	probably benign	0.25
IGL02302:Sult3a1	APN	10	33,742,571 (GRCm39)	missense	possibly damaging	0.81
IGL02947:Sult3a1	APN	10	33,740,046 (GRCm39)	missense	possibly damaging	0.92
IGL02966:Sult3a1	APN	10	33,753,269 (GRCm39)	splice site	probably benign
IGL03271:Sult3a1	APN	10	33,739,997 (GRCm39)	missense	probably benign
IGL03367:Sult3a1	APN	10	33,753,342 (GRCm39)	missense	probably benign	0.01
R0539:Sult3a1	UTSW	10	33,742,519 (GRCm39)	missense	probably damaging	1.00
R0627:Sult3a1	UTSW	10	33,740,010 (GRCm39)	missense	probably benign	0.00
R0838:Sult3a1	UTSW	10	33,755,284 (GRCm39)	missense	probably damaging	0.99
R1538:Sult3a1	UTSW	10	33,746,166 (GRCm39)	missense	probably benign	0.29
R1604:Sult3a1	UTSW	10	33,742,616 (GRCm39)	missense	probably damaging	1.00
R1622:Sult3a1	UTSW	10	33,746,246 (GRCm39)	missense	probably benign	0.39
R3031:Sult3a1	UTSW	10	33,753,345 (GRCm39)	missense	possibly damaging	0.70
R4933:Sult3a1	UTSW	10	33,742,550 (GRCm39)	missense	probably damaging	1.00
R5943:Sult3a1	UTSW	10	33,742,637 (GRCm39)	missense	probably damaging	0.99
R7140:Sult3a1	UTSW	10	33,753,283 (GRCm39)	missense	probably damaging	1.00
R7356:Sult3a1	UTSW	10	33,742,579 (GRCm39)	missense	probably benign	0.25
R8342:Sult3a1	UTSW	10	33,742,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGTTAATTGTTCCCCAAACC -3'
(R):5'- GGAGAATGTGCTTTCAACCAAG -3'

Sequencing Primer
(F):5'- GTTAATTGTTCCCCAAACCACTAAAC -3'
(R):5'- AACTCTGGAGAGACTTGATGTCCC -3'

Posted On

2018-05-24