Mutagenetix > Incidental Mutation

Incidental Mutation 'R0659:Sult1c2'

61808

Institutional Source

Beutler Lab

Gene Symbol

Sult1c2

Ensembl Gene

ENSMUSG00000023122

Gene Name

sulfotransferase family, cytosolic, 1C, member 2

Synonyms

1810008N17Rik, ST1C1

MMRRC Submission

038844-MU

Accession Numbers

Essential gene?

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

Stock #

R0659 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

54136665-54152986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54138806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 257 (M257K)

Ref Sequence

ENSEMBL: ENSMUSP00000023886 (fasta)

Gene Model

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

AlphaFold

Q9D939

Predicted Effect

probably damaging
Transcript: ENSMUST00000023886
AA Change: M257K

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

SMART Domains

Protein: ENSMUSP00000023886
Gene: ENSMUSG00000023122
AA Change: M257K

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

Meta Mutation Damage Score

0.9071

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,140,565 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,992,366 (GRCm39)	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,874,173 (GRCm39)	V591A	probably damaging	Het
Apol7c	A	G	15: 77,410,473 (GRCm39)	S158P	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,322,067 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,587,452 (GRCm39)		probably benign	Het
Cep78	C	T	19: 15,933,554 (GRCm39)	V675M	probably damaging	Het
Ces4a	T	C	8: 105,871,554 (GRCm39)		probably benign	Het
Chpf	A	G	1: 75,454,367 (GRCm39)	V137A	probably damaging	Het
Comp	T	C	8: 70,831,751 (GRCm39)	S457P	possibly damaging	Het
Cth	A	G	3: 157,625,752 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,733,563 (GRCm39)	L314P	probably damaging	Het
Ets1	C	T	9: 32,649,589 (GRCm39)	R309C	probably damaging	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gm9875	T	G	2: 13,562,995 (GRCm39)	F108V	unknown	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Greb1	T	C	12: 16,730,213 (GRCm39)	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,086,850 (GRCm39)	V70E	probably damaging	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,221,750 (GRCm39)	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Lin28a	T	C	4: 133,735,410 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,305,244 (GRCm39)	S58G	probably damaging	Het
Mmp21	G	A	7: 133,279,396 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Mto1	T	A	9: 78,364,790 (GRCm39)	I343N	probably damaging	Het
Mto1	C	T	9: 78,378,072 (GRCm39)	T638M	probably damaging	Het
Myo18b	T	C	5: 112,908,193 (GRCm39)	K2027E	possibly damaging	Het
Myo7a	T	C	7: 97,703,545 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,256,703 (GRCm39)	I107T	probably damaging	Het
Or5k17	C	A	16: 58,746,772 (GRCm39)	R54L	possibly damaging	Het
Or8g37	T	G	9: 39,731,112 (GRCm39)	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,258,767 (GRCm39)	S268P	probably damaging	Het
Pih1d1	T	A	7: 44,809,399 (GRCm39)	S289T	probably benign	Het
Pik3c2b	A	G	1: 132,998,938 (GRCm39)	D353G	probably damaging	Het
Ppef2	A	G	5: 92,378,368 (GRCm39)	L609P	probably damaging	Het
Prune2	A	T	19: 17,100,199 (GRCm39)	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,612,444 (GRCm39)	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,741,068 (GRCm39)	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,918,121 (GRCm39)	K582E	probably benign	Het
Tasor2	T	C	13: 3,624,448 (GRCm39)	D1834G	probably damaging	Het
Tmem132d	A	G	5: 128,061,351 (GRCm39)	I417T	possibly damaging	Het
Tmem229b	T	C	12: 79,011,908 (GRCm39)	T8A	probably benign	Het
Tmem237	T	C	1: 59,153,253 (GRCm39)	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,683 (GRCm39)	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,831,485 (GRCm39)	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,605,122 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,828,217 (GRCm39)	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,311,258 (GRCm39)	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,574,964 (GRCm39)	C395S	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zranb2	A	G	3: 157,247,400 (GRCm39)	S193G	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
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
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'- CACCTCAGGCAGAGTTCCCATTTAG -3'
(R):5'- TCACGAACAGGGAGGCTGCTTTAG -3'

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

Posted On

2013-07-30