Mutagenetix > Incidental Mutation

Incidental Mutation 'R8025:Sult1c2'

617675

Institutional Source

Beutler Lab

Gene Symbol

Sult1c2

Ensembl Gene

ENSMUSG00000023122

Gene Name

sulfotransferase family, cytosolic, 1C, member 2

Synonyms

1810008N17Rik, ST1C1

MMRRC Submission

067464-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54136665-54152986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54138837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 247 (S247T)

Ref Sequence

ENSEMBL: ENSMUSP00000023886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023886]

AlphaFold

Q9D939

Predicted Effect

probably benign
Transcript: ENSMUST00000023886
AA Change: S247T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023886
Gene: ENSMUSG00000023122
AA Change: S247T

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	39	289	4.8e-96	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	G	3: 79,536,635 (GRCm39)	L51R	probably damaging	Het
Actl7b	T	C	4: 56,741,137 (GRCm39)	T74A	probably damaging	Het
Aip	C	A	19: 4,165,346 (GRCm39)	A207S	probably benign	Het
AL732309.1	A	G	2: 25,136,331 (GRCm39)		probably benign	Het
Apcdd1	G	T	18: 63,069,979 (GRCm39)	C82F	probably damaging	Het
Arhgap42	T	G	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
Baz1a	A	T	12: 54,955,921 (GRCm39)	I1056N	probably benign	Het
Bzw2	T	C	12: 36,157,517 (GRCm39)	E316G	probably damaging	Het
Carns1	A	T	19: 4,216,505 (GRCm39)	I559N	probably damaging	Het
Chrnb2	A	T	3: 89,668,649 (GRCm39)	V222E	probably damaging	Het
Cngb3	A	T	4: 19,280,960 (GRCm39)	N10Y	possibly damaging	Het
Dennd1b	A	G	1: 139,038,158 (GRCm39)	K267E		Het
Dhx32	A	G	7: 133,323,100 (GRCm39)	Y705H	probably damaging	Het
Dnah7c	G	A	1: 46,496,456 (GRCm39)	V114I	probably benign	Het
Dnah8	T	A	17: 30,960,311 (GRCm39)	C2229*	probably null	Het
Dync2i2	T	C	2: 29,938,730 (GRCm39)	Q51R	probably benign	Het
Gm14401	T	C	2: 176,778,249 (GRCm39)	F112L	probably damaging	Het
Gm57858	C	A	3: 36,073,136 (GRCm39)	R382L	probably damaging	Het
Habp4	G	A	13: 64,322,645 (GRCm39)	R238H	probably benign	Het
Herpud1	A	G	8: 95,119,149 (GRCm39)	Y301C	probably damaging	Het
Itih5	G	A	2: 10,245,833 (GRCm39)	A641T	probably benign	Het
Kcns3	A	T	12: 11,141,846 (GRCm39)	N284K	probably damaging	Het
Mcrs1	G	A	15: 99,144,814 (GRCm39)	Q267*	probably null	Het
Midn	G	A	10: 79,991,126 (GRCm39)	A379T	probably benign	Het
Muc21	GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	17: 35,931,879 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,127,224 (GRCm39)	N996K	probably benign	Het
Or2d36	A	G	7: 106,746,930 (GRCm39)	M136V	possibly damaging	Het
Or4d2b	A	T	11: 87,779,777 (GRCm39)		probably null	Het
Or51f5	T	C	7: 102,424,463 (GRCm39)	V244A	probably benign	Het
Or5m11	A	T	2: 85,781,856 (GRCm39)	I150F	probably benign	Het
Or7e175	T	C	9: 20,048,928 (GRCm39)	V172A	probably benign	Het
Parpbp	T	C	10: 87,928,970 (GRCm39)	D490G	probably benign	Het
Pcbp2	T	A	15: 102,396,711 (GRCm39)	S262R	probably benign	Het
Pcdhgc5	T	C	18: 37,953,992 (GRCm39)	I422T	possibly damaging	Het
Pcsk5	T	A	19: 17,538,415 (GRCm39)		probably benign	Het
Plxna1	G	A	6: 89,308,254 (GRCm39)	R1278W	probably damaging	Het
Polr1c	A	G	17: 46,555,974 (GRCm39)	L162P	probably damaging	Het
Rasl2-9	A	G	7: 5,128,481 (GRCm39)	S150P	probably damaging	Het
Raver2	C	A	4: 100,960,162 (GRCm39)	S214*	probably null	Het
Rbpjl	C	A	2: 164,252,166 (GRCm39)		probably benign	Het
Rec114	T	G	9: 58,567,605 (GRCm39)	E127A	possibly damaging	Het
Recql5	C	A	11: 115,818,938 (GRCm39)	L209F	probably damaging	Het
Rgs11	T	C	17: 26,423,359 (GRCm39)		probably null	Het
Rgs3	C	A	4: 62,608,831 (GRCm39)	H366N	probably damaging	Het
Rnf148	C	T	6: 23,654,196 (GRCm39)	D267N	possibly damaging	Het
Scn1a	T	C	2: 66,148,557 (GRCm39)	N1007S	probably benign	Het
Sdcbp	A	G	4: 6,393,022 (GRCm39)	T220A	probably benign	Het
Sema5a	A	G	15: 32,548,928 (GRCm39)	N134S	probably benign	Het
Smg1	G	A	7: 117,806,212 (GRCm39)	Q210*	probably null	Het
Snx7	A	G	3: 117,626,526 (GRCm39)	V328A	probably benign	Het
Tceanc2	C	T	4: 106,996,997 (GRCm39)		probably null	Het
Tead3	T	C	17: 28,554,009 (GRCm39)	D141G	probably benign	Het
Tlcd5	T	A	9: 43,022,848 (GRCm39)	T169S	probably benign	Het
Ube3b	T	C	5: 114,546,270 (GRCm39)	M692T	probably damaging	Het
Vmn1r188	T	C	13: 22,272,084 (GRCm39)	F13L	probably benign	Het
Vmn2r3	A	G	3: 64,182,871 (GRCm39)	V276A	possibly damaging	Het
Vmn2r57	A	G	7: 41,076,183 (GRCm39)	I443T	probably benign	Het
Vps33a	T	C	5: 123,696,738 (GRCm39)	N305S	possibly damaging	Het
Vps33b	A	T	7: 79,940,094 (GRCm39)		probably benign	Het
Wdr72	T	A	9: 74,050,781 (GRCm39)	M91K	probably benign	Het
Xylb	T	C	9: 119,210,569 (GRCm39)	F351L	probably damaging	Het
Zan	C	T	5: 137,404,614 (GRCm39)	D3883N	unknown	Het
Zfp82	T	A	7: 29,756,278 (GRCm39)	H268L	probably damaging	Het

Other mutations in Sult1c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Sult1c2	APN	17	54,140,147 (GRCm39)	nonsense	probably null
IGL01398:Sult1c2	APN	17	54,269,180 (GRCm39)	missense	possibly damaging	0.93
IGL01938:Sult1c2	APN	17	54,138,954 (GRCm39)	missense	probably damaging	1.00
IGL01989:Sult1c2	APN	17	54,281,055 (GRCm39)	missense	probably benign
IGL02087:Sult1c2	APN	17	54,279,068 (GRCm39)	missense	possibly damaging	0.60
IGL02312:Sult1c2	APN	17	54,269,458 (GRCm39)	missense	probably benign	0.00
IGL03130:Sult1c2	APN	17	54,137,099 (GRCm39)	missense	probably benign	0.38
R0586:Sult1c2	UTSW	17	54,271,113 (GRCm39)	splice site	probably benign
R0659:Sult1c2	UTSW	17	54,138,806 (GRCm39)	missense	probably damaging	1.00
R1545:Sult1c2	UTSW	17	54,269,176 (GRCm39)	missense	possibly damaging	0.80
R1570:Sult1c2	UTSW	17	54,143,991 (GRCm39)	missense	probably benign	0.00
R1574:Sult1c2	UTSW	17	54,143,927 (GRCm39)	critical splice donor site	probably null
R1574:Sult1c2	UTSW	17	54,143,927 (GRCm39)	critical splice donor site	probably null
R1752:Sult1c2	UTSW	17	54,271,777 (GRCm39)	missense	possibly damaging	0.74
R1822:Sult1c2	UTSW	17	54,280,953 (GRCm39)	missense	probably damaging	1.00
R2232:Sult1c2	UTSW	17	54,138,848 (GRCm39)	missense	probably benign	0.01
R2315:Sult1c2	UTSW	17	54,145,521 (GRCm39)	missense	possibly damaging	0.90
R3522:Sult1c2	UTSW	17	54,279,043 (GRCm39)	missense	probably damaging	1.00
R4399:Sult1c2	UTSW	17	54,269,538 (GRCm39)	missense	probably benign	0.00
R4600:Sult1c2	UTSW	17	54,280,983 (GRCm39)	missense	probably benign	0.39
R4677:Sult1c2	UTSW	17	54,137,137 (GRCm39)	missense	possibly damaging	0.80
R4896:Sult1c2	UTSW	17	54,139,163 (GRCm39)	missense	probably benign	0.31
R5066:Sult1c2	UTSW	17	54,281,026 (GRCm39)	missense	probably damaging	0.96
R5140:Sult1c2	UTSW	17	54,276,743 (GRCm39)	missense	probably benign
R5334:Sult1c2	UTSW	17	54,271,758 (GRCm39)	missense	probably damaging	1.00
R5396:Sult1c2	UTSW	17	54,143,939 (GRCm39)	missense	possibly damaging	0.95
R5656:Sult1c2	UTSW	17	54,271,680 (GRCm39)	missense	probably benign	0.07
R5744:Sult1c2	UTSW	17	54,280,990 (GRCm39)	nonsense	probably null
R5941:Sult1c2	UTSW	17	54,138,926 (GRCm39)	missense	probably benign	0.01
R6163:Sult1c2	UTSW	17	54,280,981 (GRCm39)	missense	probably benign
R7105:Sult1c2	UTSW	17	54,280,917 (GRCm39)	splice site	probably null
R7137:Sult1c2	UTSW	17	54,145,422 (GRCm39)	missense	probably damaging	0.97
R7836:Sult1c2	UTSW	17	54,271,076 (GRCm39)	missense	probably damaging	1.00
R8416:Sult1c2	UTSW	17	54,269,580 (GRCm39)	missense	probably benign	0.38
R8519:Sult1c2	UTSW	17	54,276,709 (GRCm39)	missense	probably damaging	1.00
R9170:Sult1c2	UTSW	17	54,269,200 (GRCm39)	missense	possibly damaging	0.87
R9353:Sult1c2	UTSW	17	54,271,060 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCTAGCTCTGGTCTTAGTC -3'
(R):5'- CAGTGATGTCTGGGAAAATGTG -3'

Sequencing Primer
(F):5'- GCTCTGGTCTTAGTCATCTGTAAGAC -3'
(R):5'- AGTGTAAAAACTCTCTTCCAGTCC -3'

Posted On

2020-01-23