Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Sult1d1'

710929

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: 0.059) question?

Stock #

R9398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87702509-87716865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87713954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 30 (Q30L)

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 benign
Transcript: ENSMUST00000113314
AA Change: Q30L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108940
Gene: ENSMUSG00000029273
AA Change: Q30L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,034,924 (GRCm39)	K228*	probably null	Het
Adrb2	T	C	18: 62,312,276 (GRCm39)	D183G	probably benign	Het
Ap1m2	A	G	9: 21,216,935 (GRCm39)	Y134H	probably damaging	Het
Arid5a	A	G	1: 36,358,073 (GRCm39)	T217A	probably benign	Het
Cdnf	C	T	2: 3,522,075 (GRCm39)	T89I	possibly damaging	Het
Cntnap3	G	A	13: 65,051,648 (GRCm39)	R3W	probably benign	Het
Col6a6	A	G	9: 105,651,825 (GRCm39)	I1062T	probably benign	Het
Ctss	T	C	3: 95,454,258 (GRCm39)	F270S	possibly damaging	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,436,912 (GRCm39)	K69E	probably benign	Het
Dgkb	G	A	12: 38,189,657 (GRCm39)	G328D	probably damaging	Het
Dock1	C	T	7: 134,774,228 (GRCm39)	T1852M	probably damaging	Het
Gm19410	T	C	8: 36,272,356 (GRCm39)	Y1346H	probably benign	Het
Gprin1	G	T	13: 54,887,383 (GRCm39)	T297N	probably damaging	Het
Gramd1c	A	G	16: 43,833,381 (GRCm39)	F187S	probably damaging	Het
Gse1	A	G	8: 121,303,074 (GRCm39)	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,133,520 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,263,562 (GRCm39)	T897S	probably benign	Het
Igsf21	T	A	4: 139,973,762 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,452,605 (GRCm39)	I757V	probably damaging	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,013,208 (GRCm39)	C374W	unknown	Het
Mapk10	A	T	5: 103,061,152 (GRCm39)	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,755,462 (GRCm39)	D293E	possibly damaging	Het
Nf1	T	G	11: 79,438,018 (GRCm39)	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 19,783,435 (GRCm39)	L926P	probably damaging	Het
Notch2	G	A	3: 98,009,668 (GRCm39)	D532N	probably damaging	Het
Olfm4	A	T	14: 80,249,249 (GRCm39)	Y122F	probably benign	Het
Or52e19b	T	A	7: 103,032,487 (GRCm39)	T241S	probably damaging	Het
Or52r1	A	G	7: 102,537,000 (GRCm39)	M120T	probably damaging	Het
Or56a4	A	T	7: 104,806,006 (GRCm39)	Y294*	probably null	Het
Or5g24-ps1	T	C	2: 85,464,367 (GRCm39)	V198A	probably benign	Het
Or5p76	T	C	7: 108,123,035 (GRCm39)	T41A	probably damaging	Het
Or5t18	A	G	2: 86,637,160 (GRCm39)	L61P	possibly damaging	Het
P2rx2	A	T	5: 110,488,138 (GRCm39)	M472K	probably benign	Het
Pbxip1	A	G	3: 89,354,941 (GRCm39)	K487E	probably benign	Het
Plxnb2	A	G	15: 89,045,122 (GRCm39)	V1108A	probably benign	Het
Polq	A	G	16: 36,881,394 (GRCm39)	N1186S	probably benign	Het
Por	T	A	5: 135,754,597 (GRCm39)	W6R	unknown	Het
Prex2	G	A	1: 11,207,028 (GRCm39)	V529I	probably benign	Het
Rgs6	T	G	12: 82,698,615 (GRCm39)	S5A	probably benign	Het
Rp9	G	T	9: 22,360,082 (GRCm39)	S171*	probably null	Het
Sec11c	T	A	18: 65,942,568 (GRCm39)	I47N	possibly damaging	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,066,756 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,066,746 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,511 (GRCm39)	S137P	possibly damaging	Het
Sorcs1	A	G	19: 50,213,651 (GRCm39)	M692T	possibly damaging	Het
Tcea2	A	G	2: 181,322,243 (GRCm39)	D15G	probably damaging	Het
Tep1	T	C	14: 51,066,429 (GRCm39)	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,784,404 (GRCm39)	Y1824*	probably null	Het
Ubqln5	T	C	7: 103,777,985 (GRCm39)	T280A	probably benign	Het
Ush1c	T	C	7: 45,869,934 (GRCm39)	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,311,056 (GRCm39)	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r86	A	G	7: 12,836,261 (GRCm39)	M205T	probably damaging	Het
Vps13d	A	T	4: 144,896,956 (GRCm39)	Y321*	probably null	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
R9519:Sult1d1	UTSW	5	87,704,721 (GRCm39)	missense	probably damaging	0.98
R9795:Sult1d1	UTSW	5	87,712,655 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATGAAGCTATGTAATCTGAGGCAAC -3'
(R):5'- AAGTGTTGCACCTTTTCTGTAC -3'

Sequencing Primer
(F):5'- CCCAGCAAGCCACAAGG -3'
(R):5'- AATATGCTGTGTATGAATGGTATGG -3'

Posted On

2022-04-18