Mutagenetix > Incidental Mutation

Incidental Mutation 'R4600:Sult1c2'

345580

Institutional Source

Beutler Lab

Gene Symbol

Sult1c2

Ensembl Gene

ENSMUSG00000023122

Gene Name

sulfotransferase family, cytosolic, 1C, member 2

Synonyms

1810008N17Rik, ST1C1

Accession Numbers

Essential gene?

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

Stock #

R4600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54136665-54152986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54280983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 40 (W40L)

Ref Sequence

ENSEMBL: ENSMUSP00000024738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024738]

AlphaFold

Q9D939

Predicted Effect

probably benign
Transcript: ENSMUST00000024738
AA Change: W40L

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024738
Gene: ENSMUSG00000023943
AA Change: W40L

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	46	297	4.7e-93	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,195,037 (GRCm39)	F145L	possibly damaging	Het
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Ago1	C	A	4: 126,354,185 (GRCm39)	M208I	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Amfr	A	G	8: 94,700,849 (GRCm39)	L537P	probably damaging	Het
Apob	A	G	12: 8,058,568 (GRCm39)	D2317G	probably damaging	Het
Asb6	T	A	2: 30,714,483 (GRCm39)	D209V	probably damaging	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Baz2a	T	A	10: 127,957,052 (GRCm39)	C932S	probably damaging	Het
Btnl10	A	G	11: 58,814,426 (GRCm39)	I369V	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clic4	A	T	4: 134,966,300 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,709,626 (GRCm39)	S1857P	unknown	Het
Cracr2a	A	C	6: 127,580,851 (GRCm39)	D9A	probably benign	Het
Cspg4b	A	G	13: 113,455,783 (GRCm39)	R610G	possibly damaging	Het
Dcst1	T	C	3: 89,263,643 (GRCm39)	E384G	probably benign	Het
Ddx4	T	C	13: 112,748,594 (GRCm39)	K435E	probably damaging	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah3	T	A	7: 119,689,169 (GRCm39)	M82L	probably benign	Het
Dnhd1	G	T	7: 105,352,851 (GRCm39)	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,831,126 (GRCm39)	G596D	probably benign	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Fam181b	C	A	7: 92,729,992 (GRCm39)	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,372,924 (GRCm39)	D178E	probably benign	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,327,723 (GRCm39)	K54*	probably null	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705 (GRCm39)	A1569T	probably damaging	Het
Grik5	C	G	7: 24,767,489 (GRCm39)	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,805,302 (GRCm39)	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,126,994 (GRCm39)	A160P	possibly damaging	Het
Hydin	A	T	8: 111,293,582 (GRCm39)	T3510S	probably benign	Het
Ift70a1	T	C	2: 75,810,977 (GRCm39)	T369A	probably benign	Het
Itgb2	A	G	10: 77,381,949 (GRCm39)	I84V	probably benign	Het
Itsn1	A	G	16: 91,696,475 (GRCm39)	Q26R	probably damaging	Het
Kat6a	A	G	8: 23,429,327 (GRCm39)	S1561G	probably benign	Het
Khnyn	G	A	14: 56,124,438 (GRCm39)	V231I	probably benign	Het
Kif21b	A	G	1: 136,075,602 (GRCm39)	D243G	probably benign	Het
Klk4	T	A	7: 43,534,762 (GRCm39)	N240K	probably damaging	Het
Knl1	T	C	2: 118,901,025 (GRCm39)	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,373,528 (GRCm39)	D1419A	probably benign	Het
Lin9	T	A	1: 180,508,759 (GRCm39)	V421D	probably damaging	Het
Lipt2	T	C	7: 99,809,519 (GRCm39)	L202P	probably benign	Het
Mbd5	T	G	2: 49,147,209 (GRCm39)	M473R	probably benign	Het
Mcc	A	T	18: 44,652,587 (GRCm39)	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mylk2	G	A	2: 152,759,476 (GRCm39)	V389M	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nup160	T	A	2: 90,515,541 (GRCm39)		probably null	Het
Nup88	G	A	11: 70,860,522 (GRCm39)	R62*	probably null	Het
Or2g7	T	C	17: 38,378,853 (GRCm39)	S264P	probably damaging	Het
Or51af1	T	A	7: 103,141,788 (GRCm39)	Q99L	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Or8g33	A	G	9: 39,337,731 (GRCm39)	M212T	probably benign	Het
Os9	T	C	10: 126,934,223 (GRCm39)	N471S	probably benign	Het
Otof	C	T	5: 30,529,244 (GRCm39)	V1757M	probably damaging	Het
Pakap	A	T	4: 57,709,954 (GRCm39)	T300S	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pappa2	G	A	1: 158,642,015 (GRCm39)	S1347L	probably damaging	Het
Pccb	T	C	9: 100,916,832 (GRCm39)	T27A	probably benign	Het
Pde4dip	A	T	3: 97,603,260 (GRCm39)	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,571,254 (GRCm39)	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,070,120 (GRCm39)	P145L	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Slc46a2	C	T	4: 59,911,886 (GRCm39)	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,278,869 (GRCm39)	L301P	probably damaging	Het
Spg21	A	G	9: 65,383,257 (GRCm39)	T148A	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Sytl2	T	C	7: 90,024,977 (GRCm39)	S322P	probably benign	Het
Telo2	C	A	17: 25,324,122 (GRCm39)	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,131,897 (GRCm39)	V719A	probably damaging	Het
Tlr9	T	A	9: 106,101,732 (GRCm39)	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,024,548 (GRCm39)	N230D	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpo	C	T	12: 30,148,228 (GRCm39)	V558M	probably benign	Het
Trex1	T	G	9: 108,887,352 (GRCm39)	Q213P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a6a	A	G	1: 88,066,586 (GRCm39)	K131E	probably benign	Het
Vipr1	T	A	9: 121,494,202 (GRCm39)		probably null	Het
Vmn1r22	T	C	6: 57,877,860 (GRCm39)	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,522,046 (GRCm39)	C17S	probably benign	Het
Vps41	T	C	13: 18,929,453 (GRCm39)	Y63H	probably damaging	Het
Xdh	G	T	17: 74,217,195 (GRCm39)	T691N	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het
Zfp536	T	A	7: 37,267,918 (GRCm39)	K499N	probably damaging	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	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
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
R8025:Sult1c2	UTSW	17	54,138,837 (GRCm39)	missense	probably benign
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'- TGACCCTTATGAGTTGGAATGG -3'
(R):5'- TGCCAGTAGCTCTTCTGGTC -3'

Sequencing Primer
(F):5'- ATTTTGTCCCCTCCCCCTAC -3'
(R):5'- CTTCTGGTCACCTGAGAGAAATGC -3'

Posted On

2015-09-25