Mutagenetix > Incidental Mutation

Incidental Mutation 'R9519:Sult1d1'

718752

Institutional Source

Beutler Lab

Gene Symbol

Sult1d1

Ensembl Gene

ENSMUSG00000029273

Gene Name

sulfotransferase family 1D, member 1

Synonyms

5033411P13Rik, tyrosine-ester sulfotransferase, Sultn

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9519 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87702509-87716865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87704721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 256 (M256K)

Ref Sequence

ENSEMBL: ENSMUSP00000108940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113314]

AlphaFold

Q3UZZ6

PDB Structure

Crystal structure of mouse sulfotransferase SULT1D1 complex with PAP [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and p-nitrophenol [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and alpha-naphthol [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS and p-nitrophenyl sulfate [X-RAY DIFFRACTION]
Crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAPS/PAP and p-nitrophenol [X-RAY DIFFRACTION]
crystal structure of mouse cytosolic sulfotransferase mSULT1D1 complex with PAP and p-nitrophenol, obtained by two-step soaking method [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000113314
AA Change: M256K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108940
Gene: ENSMUSG00000029273
AA Change: M256K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	38	288	6e-95	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased benzylic DNA adduct formation in the liver and kidney but increased formation in the colon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,030,572 (GRCm39)	E676G	probably benign	Het
Aatk	G	A	11: 119,912,309 (GRCm39)		probably benign	Het
Abcc1	T	C	16: 14,207,681 (GRCm39)	V20A	probably benign	Het
Abcc3	A	G	11: 94,264,805 (GRCm39)	V181A	possibly damaging	Het
Alkbh2	T	C	5: 114,265,794 (GRCm39)	K3E	probably benign	Het
Aox1	A	C	1: 58,373,926 (GRCm39)	K862N	probably damaging	Het
Arap1	G	A	7: 101,043,946 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,186,948 (GRCm39)	N67D	possibly damaging	Het
Atxn1l	C	T	8: 110,458,688 (GRCm39)	V525M	probably damaging	Het
Bcan	C	G	3: 87,902,964 (GRCm39)	E271D	probably damaging	Het
Bcan	T	C	3: 87,902,968 (GRCm39)	E270G	probably benign	Het
Bcan	C	A	3: 87,902,967 (GRCm39)	E270D	probably damaging	Het
Cadps	T	C	14: 12,546,290 (GRCm38)	H522R	possibly damaging	Het
Dll3	A	G	7: 27,995,764 (GRCm39)	S346P	probably damaging	Het
Epha3	T	A	16: 63,472,668 (GRCm39)	T406S	possibly damaging	Het
Far1	A	G	7: 113,150,559 (GRCm39)	R296G	probably benign	Het
Flot1	T	G	17: 36,136,363 (GRCm39)	V172G	possibly damaging	Het
Gm973	A	G	1: 59,580,611 (GRCm39)	M165V	probably benign	Het
Golm1	T	C	13: 59,792,914 (GRCm39)	H197R	probably benign	Het
Gpr85	T	C	6: 13,836,998 (GRCm39)		probably benign	Het
Herc1	A	G	9: 66,307,356 (GRCm39)	K1017E	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	G	10: 66,993,798 (GRCm39)	D93G	possibly damaging	Het
Kcnn4	T	A	7: 24,081,941 (GRCm39)	V363E	probably damaging	Het
Kif9	A	G	9: 110,350,344 (GRCm39)	D745G	probably damaging	Het
Lipm	T	C	19: 34,090,392 (GRCm39)	M191T	probably benign	Het
Ltbp1	C	T	17: 75,692,190 (GRCm39)	R1603C	probably damaging	Het
Ms4a13	C	G	19: 11,147,332 (GRCm39)	S194T	unknown	Het
Muc16	A	T	9: 18,498,216 (GRCm39)	I6577N	probably benign	Het
Nfatc2	T	C	2: 168,412,678 (GRCm39)	T336A	probably benign	Het
Nlrp9c	T	A	7: 26,085,302 (GRCm39)	K92N	possibly damaging	Het
Or1p1b	A	T	11: 74,130,827 (GRCm39)	T146S	probably benign	Het
Or51a10	C	A	7: 103,698,636 (GRCm39)	M308I	probably benign	Het
Parp16	T	A	9: 65,137,222 (GRCm39)	Y149*	probably null	Het
Pdgfra	A	T	5: 75,337,350 (GRCm39)	T463S	probably benign	Het
Peg3	T	C	7: 6,714,394 (GRCm39)	E276G	probably benign	Het
Prom1	A	G	5: 44,213,403 (GRCm39)	V110A	possibly damaging	Het
Ptprq	T	C	10: 107,520,961 (GRCm39)	Y737C	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Sds	T	A	5: 120,619,610 (GRCm39)	L173Q	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc8a3	A	T	12: 81,362,326 (GRCm39)	D164E	probably benign	Het
Slc9c1	A	T	16: 45,395,770 (GRCm39)	N607I	probably damaging	Het
Smarce1	A	T	11: 99,104,933 (GRCm39)	I248K	probably benign	Het
Smg7	G	T	1: 152,735,196 (GRCm39)	T213K	probably damaging	Het
Snrnp70	C	T	7: 45,036,875 (GRCm39)	D90N	probably benign	Het
Snx20	A	G	8: 89,354,400 (GRCm39)	V110A	possibly damaging	Het
Snx25	A	G	8: 46,486,783 (GRCm39)	V986A	probably damaging	Het
Soat1	T	C	1: 156,259,779 (GRCm39)	K521E	probably benign	Het
Speg	C	T	1: 75,392,380 (GRCm39)	T1679M	probably damaging	Het
Stoml3	T	A	3: 53,405,402 (GRCm39)	F28I	probably benign	Het
Tiam1	T	C	16: 89,608,822 (GRCm39)	E1064G	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp790	C	A	7: 29,522,567 (GRCm39)	H3N	unknown	Het

Other mutations in Sult1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02306:Sult1d1	APN	5	87,703,914 (GRCm39)	splice site	probably benign
IGL02566:Sult1d1	APN	5	87,712,670 (GRCm39)	missense	probably damaging	0.98
IGL03080:Sult1d1	APN	5	87,704,847 (GRCm39)	missense	probably benign	0.16
IGL03113:Sult1d1	APN	5	87,707,738 (GRCm39)	nonsense	probably null
R0269:Sult1d1	UTSW	5	87,712,661 (GRCm39)	missense	probably damaging	1.00
R1473:Sult1d1	UTSW	5	87,712,598 (GRCm39)	missense	probably benign	0.13
R2105:Sult1d1	UTSW	5	87,707,661 (GRCm39)	missense	probably damaging	1.00
R2273:Sult1d1	UTSW	5	87,703,887 (GRCm39)	missense	probably damaging	1.00
R2919:Sult1d1	UTSW	5	87,707,614 (GRCm39)	splice site	probably benign
R4416:Sult1d1	UTSW	5	87,706,435 (GRCm39)	missense	probably damaging	1.00
R4648:Sult1d1	UTSW	5	87,713,954 (GRCm39)	missense	probably benign	0.00
R5031:Sult1d1	UTSW	5	87,707,703 (GRCm39)	missense	possibly damaging	0.77
R5108:Sult1d1	UTSW	5	87,711,728 (GRCm39)	critical splice donor site	probably null
R5905:Sult1d1	UTSW	5	87,707,685 (GRCm39)	missense	probably damaging	1.00
R5934:Sult1d1	UTSW	5	87,707,629 (GRCm39)	frame shift	probably null
R6028:Sult1d1	UTSW	5	87,707,685 (GRCm39)	missense	probably damaging	1.00
R8786:Sult1d1	UTSW	5	87,712,575 (GRCm39)	missense	probably benign
R9398:Sult1d1	UTSW	5	87,713,954 (GRCm39)	missense	probably benign	0.00
R9795:Sult1d1	UTSW	5	87,712,655 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCTACTACATGTACTGAGCCTTC -3'
(R):5'- TCCCACTAGCTAAGCTTAAGCAG -3'

Sequencing Primer
(F):5'- TGTTCCACAATAATGTAGAAGTCAC -3'
(R):5'- GCAGAACCTTATTAAGTGTGTTCC -3'

Posted On

2022-07-18