Mutagenetix > Incidental Mutation

Incidental Mutation 'R8236:Sult1b1'

637347

Institutional Source

Beutler Lab

Gene Symbol

Sult1b1

Ensembl Gene

ENSMUSG00000029269

Gene Name

sulfotransferase family 1B, member 1

Synonyms

Dopa/tyrosine sulfotransferase

MMRRC Submission

067668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87661198-87686054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87669383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 155 (T155N)

Ref Sequence

ENSEMBL: ENSMUSP00000031199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031199] [ENSMUST00000117455] [ENSMUST00000120150]

AlphaFold

Q9QWG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031199
AA Change: T155N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031199
Gene: ENSMUSG00000029269
AA Change: T155N

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	38	289	7.5e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117455
AA Change: T155N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112679
Gene: ENSMUSG00000029269
AA Change: T155N

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	38	289	7.5e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120150
AA Change: T155N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112844
Gene: ENSMUSG00000029269
AA Change: T155N

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	38	289	7.5e-93	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (59/59)

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. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	T	1: 85,974,115 (GRCm39)	A144V	possibly damaging	Het
Actr8	A	G	14: 29,704,585 (GRCm39)	I51M	probably damaging	Het
Afm	A	T	5: 90,671,747 (GRCm39)	D143V	probably damaging	Het
Ankfy1	T	A	11: 72,645,181 (GRCm39)	S753R	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Bicdl1	T	C	5: 115,787,618 (GRCm39)	H527R	probably benign	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Brip1	C	A	11: 86,029,938 (GRCm39)	D569Y	probably damaging	Het
Cab39	T	C	1: 85,776,092 (GRCm39)	L263P	probably damaging	Het
Cblb	C	A	16: 51,986,392 (GRCm39)	P545Q	possibly damaging	Het
Cdk5rap2	G	T	4: 70,160,722 (GRCm39)	P1579Q	probably benign	Het
Cdt1	A	G	8: 123,298,767 (GRCm39)	E468G	probably damaging	Het
Col28a1	A	G	6: 8,097,024 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,548,796 (GRCm39)	I166T	possibly damaging	Het
Ctnnd2	G	A	15: 30,647,164 (GRCm39)	A287T	probably benign	Het
Dcc	C	T	18: 72,088,089 (GRCm39)	V50I	probably benign	Het
Defb30	A	T	14: 63,287,216 (GRCm39)	M19K	unknown	Het
Dync2h1	C	A	9: 7,080,363 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,618,905 (GRCm39)	T1291A	possibly damaging	Het
Epyc	A	T	10: 97,517,067 (GRCm39)	N302Y	probably damaging	Het
Espn	G	A	4: 152,233,487 (GRCm39)	T106I	probably damaging	Het
Fam135a	T	C	1: 24,059,729 (GRCm39)		probably null	Het
Fam171b	G	A	2: 83,710,550 (GRCm39)	E741K	probably damaging	Het
Fgfr1	G	T	8: 26,052,288 (GRCm39)	E205*	probably null	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Gdpd3	A	G	7: 126,367,838 (GRCm39)	K224E	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm43518	C	T	5: 124,072,285 (GRCm39)	Q17*	probably null	Het
Gm4353	T	C	7: 115,682,618 (GRCm39)	Y321C	probably damaging	Het
Gphn	A	G	12: 78,711,311 (GRCm39)	H631R	probably damaging	Het
Hook1	T	A	4: 95,903,042 (GRCm39)		probably null	Het
Il9	T	A	13: 56,630,058 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,292,281 (GRCm39)		probably null	Het
Lhcgr	A	T	17: 89,050,014 (GRCm39)	L504*	probably null	Het
Mical3	A	G	6: 120,989,504 (GRCm39)	V272A		Het
Mup10	A	G	4: 60,537,562 (GRCm39)	I63T	probably damaging	Het
Mxi1	C	G	19: 53,358,029 (GRCm39)	P165R	probably damaging	Het
Nanog	A	T	6: 122,690,131 (GRCm39)	I179F	probably benign	Het
Or5w14	T	A	2: 87,542,104 (GRCm39)	I49F	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pip	A	G	6: 41,824,596 (GRCm39)	D28G	probably damaging	Het
Ppp2r3d	T	C	9: 124,440,067 (GRCm38)	H53R		Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Ptpn4	A	G	1: 119,606,552 (GRCm39)	V781A	possibly damaging	Het
Ptprt	C	T	2: 161,528,988 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,531,695 (GRCm39)	S141P	probably damaging	Het
Slc2a1	G	C	4: 118,990,454 (GRCm39)	S226T	probably benign	Het
Smyd3	A	C	1: 179,233,205 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,712 (GRCm39)	E1015G	probably benign	Het
Tcam1	A	G	11: 106,177,243 (GRCm39)	I412V	probably benign	Het
Tet2	G	A	3: 133,193,547 (GRCm39)	P296S	probably benign	Het
Tmem30c	T	C	16: 57,096,542 (GRCm39)	D193G	probably null	Het
Trem2	G	T	17: 48,658,934 (GRCm39)	W233L	probably benign	Het
Trpm3	C	A	19: 22,964,772 (GRCm39)	D1422E	probably benign	Het
Ttbk1	T	G	17: 46,781,655 (GRCm39)	D366A	probably damaging	Het
Ttyh1	G	A	7: 4,128,547 (GRCm39)	G148D	probably benign	Het
Ubr2	T	C	17: 47,262,835 (GRCm39)	M1259V	probably benign	Het
Zfp608	T	A	18: 55,032,281 (GRCm39)	D553V	probably damaging	Het
Zkscan2	A	G	7: 123,079,135 (GRCm39)	S941P	probably benign	Het
Zranb1	T	C	7: 132,551,393 (GRCm39)	Y15H	probably damaging	Het

Other mutations in Sult1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Sult1b1	APN	5	87,662,815 (GRCm39)	missense	probably benign	0.28
IGL02214:Sult1b1	APN	5	87,682,949 (GRCm39)	utr 5 prime	probably benign
R0377:Sult1b1	UTSW	5	87,665,235 (GRCm39)	missense	probably damaging	1.00
R0835:Sult1b1	UTSW	5	87,665,311 (GRCm39)	missense	probably benign	0.00
R1850:Sult1b1	UTSW	5	87,668,700 (GRCm39)	missense	probably damaging	1.00
R2059:Sult1b1	UTSW	5	87,682,892 (GRCm39)	missense	probably damaging	0.98
R4792:Sult1b1	UTSW	5	87,662,906 (GRCm39)	missense	probably damaging	1.00
R4904:Sult1b1	UTSW	5	87,682,912 (GRCm39)	missense	probably benign	0.39
R5127:Sult1b1	UTSW	5	87,669,407 (GRCm39)	missense	probably damaging	1.00
R5282:Sult1b1	UTSW	5	87,678,510 (GRCm39)	missense	probably benign	0.01
R5981:Sult1b1	UTSW	5	87,682,816 (GRCm39)	missense	probably damaging	1.00
R6270:Sult1b1	UTSW	5	87,665,413 (GRCm39)	splice site	probably null
R6442:Sult1b1	UTSW	5	87,682,912 (GRCm39)	missense	probably benign	0.39
R7681:Sult1b1	UTSW	5	87,678,495 (GRCm39)	missense	probably damaging	1.00
R8539:Sult1b1	UTSW	5	87,681,838 (GRCm39)	missense	possibly damaging	0.93
R8923:Sult1b1	UTSW	5	87,662,893 (GRCm39)	missense	probably damaging	1.00
R8978:Sult1b1	UTSW	5	87,682,900 (GRCm39)	missense	possibly damaging	0.80
R9141:Sult1b1	UTSW	5	87,665,280 (GRCm39)	missense	probably damaging	0.97
R9426:Sult1b1	UTSW	5	87,665,280 (GRCm39)	missense	probably damaging	0.97
R9776:Sult1b1	UTSW	5	87,662,815 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ACACTGGGAATGTGTTCATATGC -3'
(R):5'- GCTGATAGATGCATTATCAACCAC -3'

Sequencing Primer
(F):5'- GGAATGTGTTCATATGCCAGTG -3'
(R):5'- TTCTAGAAGAAAAAGTCCTTTGCTC -3'

Posted On

2020-07-13