Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Sult1c2'

267574

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: 0.057) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54136665-54152986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54279043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 91 (E91G)

Ref Sequence

ENSEMBL: ENSMUSP00000024738 (fasta)

Gene Model

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

AlphaFold

Q9D939

Predicted Effect

probably damaging
Transcript: ENSMUST00000024738
AA Change: E91G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024738
Gene: ENSMUSG00000023943
AA Change: E91G

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

Meta Mutation Damage Score

0.6065

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,075,102 (GRCm39)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,593,319 (GRCm39)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,461,163 (GRCm39)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,634,970 (GRCm39)	T180A	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b47	A	G	9: 38,435,081 (GRCm39)	T18A	probably damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,898,027 (GRCm39)	F5L	probably benign	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sntg2	A	G	12: 30,362,566 (GRCm39)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	probably benign	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
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
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'- GGCTGTGTGACTTATGCTACC -3'
(R):5'- CAGCAAATCTGAACACAGCTTTG -3'

Sequencing Primer
(F):5'- GGGCTGCCTTCACATACC -3'
(R):5'- ACACAGCTTTGTTCACTATATGAG -3'

Posted On

2015-02-18