Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Sult1b1'

207992

Institutional Source

Beutler Lab

Gene Symbol

Sult1b1

Ensembl Gene

ENSMUSG00000029269

Gene Name

sulfotransferase family 1B, member 1

Synonyms

Dopa/tyrosine sulfotransferase

MMRRC Submission

039874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87661198-87686054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87668700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 181 (W181R)

Ref Sequence

ENSEMBL: ENSMUSP00000112844 (fasta)

Gene Model

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

AlphaFold

Q9QWG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031199
AA Change: W181R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031199
Gene: ENSMUSG00000029269
AA Change: W181R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117455
AA Change: W181R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112679
Gene: ENSMUSG00000029269
AA Change: W181R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120150
AA Change: W181R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112844
Gene: ENSMUSG00000029269
AA Change: W181R

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

Meta Mutation Damage Score

0.8224

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,876,644 (GRCm39)	Q202L	probably benign	Het
Adgb	C	A	10: 10,318,246 (GRCm39)	V199F	probably damaging	Het
Aff1	G	T	5: 103,981,773 (GRCm39)	R645S	probably damaging	Het
Aoc1	C	T	6: 48,882,202 (GRCm39)	S48F	probably benign	Het
Atf6	A	T	1: 170,646,855 (GRCm39)	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,771,264 (GRCm39)	S392C	possibly damaging	Het
Camk1d	T	C	2: 5,366,826 (GRCm39)	M130V	probably benign	Het
Ces1a	T	A	8: 93,753,954 (GRCm39)	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,457,091 (GRCm39)	R453C	probably damaging	Het
Chd4	T	A	6: 125,098,619 (GRCm39)	N1532K	probably damaging	Het
Chd5	T	C	4: 152,454,990 (GRCm39)	L824P	probably damaging	Het
Ckap5	G	A	2: 91,426,058 (GRCm39)	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,873,670 (GRCm39)	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448 (GRCm39)	T3854A	probably benign	Het
Echdc1	A	T	10: 29,220,599 (GRCm39)	I252F	probably damaging	Het
Emc1	A	T	4: 139,086,684 (GRCm39)		probably benign	Het
Fbn2	C	A	18: 58,172,377 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,814,933 (GRCm39)	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,070,403 (GRCm39)	T20S	probably benign	Het
Igf1	A	C	10: 87,697,236 (GRCm39)	T2P	possibly damaging	Het
Insyn1	A	T	9: 58,406,392 (GRCm39)	M101L	probably benign	Het
Jcad	C	A	18: 4,675,730 (GRCm39)	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,796,293 (GRCm39)	S2830T	probably damaging	Het
Lepr	C	A	4: 101,590,620 (GRCm39)	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,359,206 (GRCm39)	M315L	probably benign	Het
Lrch3	A	G	16: 32,807,163 (GRCm39)	T479A	probably benign	Het
Macroh2a1	T	C	13: 56,244,052 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,715,110 (GRCm39)	N237D	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtif2	A	G	11: 29,490,683 (GRCm39)	I462M	probably benign	Het
Nrip1	T	C	16: 76,090,232 (GRCm39)	I442V	probably damaging	Het
Or11g25	G	A	14: 50,723,055 (GRCm39)	A47T	probably benign	Het
Or6b2b	T	A	1: 92,419,124 (GRCm39)	M118L	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Otogl	T	A	10: 107,713,925 (GRCm39)	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,066,832 (GRCm39)	F351I	probably benign	Het
Pcdh18	T	C	3: 49,710,854 (GRCm39)	T154A	probably benign	Het
Pex5l	A	T	3: 33,005,025 (GRCm39)		probably null	Het
Plec	T	C	15: 76,072,432 (GRCm39)	I718V	probably benign	Het
Pparg	T	A	6: 115,427,941 (GRCm39)	Y143N	probably damaging	Het
Prl2c5	A	G	13: 13,360,377 (GRCm39)	I12V	probably benign	Het
Rcor3	T	A	1: 191,804,411 (GRCm39)	Q246L	probably benign	Het
Rnf214	A	T	9: 45,780,746 (GRCm39)		probably benign	Het
S1pr5	A	T	9: 21,155,425 (GRCm39)	S334T	probably benign	Het
Scg3	C	T	9: 75,589,449 (GRCm39)	S35N	possibly damaging	Het
Septin5	A	T	16: 18,443,960 (GRCm39)	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,356,025 (GRCm39)	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,038,551 (GRCm39)	S365R	probably damaging	Het
Slc27a1	T	C	8: 72,033,347 (GRCm39)		probably null	Het
Slc2a10	C	A	2: 165,357,133 (GRCm39)	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,309,889 (GRCm39)	I526V	probably benign	Het
Smchd1	T	C	17: 71,696,766 (GRCm39)	D1203G	probably damaging	Het
Spata6l	T	C	19: 28,916,571 (GRCm39)		probably null	Het
Supt6	A	G	11: 78,110,703 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,775,497 (GRCm39)	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576 (GRCm39)	R48C	probably damaging	Het
Tiam2	A	G	17: 3,487,510 (GRCm39)	Q677R	probably damaging	Het
Tspan8	C	T	10: 115,669,130 (GRCm39)	A55V	probably damaging	Het
Txndc11	T	C	16: 10,906,268 (GRCm39)	N421D	probably damaging	Het
Vmn1r201	A	G	13: 22,658,801 (GRCm39)	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,832,826 (GRCm39)	I118L	probably benign	Het
Vps13b	A	T	15: 35,675,105 (GRCm39)		probably benign	Het
Wdfy3	A	G	5: 102,042,865 (GRCm39)	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,760,815 (GRCm39)	R107*	probably null	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
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
R8236:Sult1b1	UTSW	5	87,669,383 (GRCm39)	missense	probably damaging	0.97
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'- GTGGTTACTGATCTGATAGACTTGC -3'
(R):5'- GGAAACTTATCCTGTAGTCTCACCTTC -3'

Sequencing Primer
(F):5'- TAGACTTGCAGATAATAGACATGGG -3'
(R):5'- CTGTAGTCTCACCTTCTTTGATTAC -3'

Posted On

2014-06-23