Mutagenetix > Incidental Mutation

Incidental Mutation 'R5075:Ust'

386931

Institutional Source

Beutler Lab

Gene Symbol

Ust

Ensembl Gene

ENSMUSG00000047712

Gene Name

uronyl-2-sulfotransferase

Synonyms

UA2OST, D930010O20Rik

MMRRC Submission

042664-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

R5075 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

8080520-8394589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8393988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 59 (F59S)

Ref Sequence

ENSEMBL: ENSMUSP00000052017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061601]

AlphaFold

Q8BUB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000061601
AA Change: F59S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052017
Gene: ENSMUSG00000047712
AA Change: F59S

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	53	317	8.5e-11	PFAM
Pfam:Sulfotransfer_2	98	359	6.4e-38	PFAM
low complexity region	385	398	N/A	INTRINSIC

Meta Mutation Damage Score

0.2254

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,587,456 (GRCm39)	F33S	probably damaging	Het
Atf7ip	A	G	6: 136,537,232 (GRCm39)	D163G	probably benign	Het
Cep85	C	A	4: 133,859,678 (GRCm39)	D662Y	probably damaging	Het
Cntn6	T	A	6: 104,809,991 (GRCm39)	S558T	probably damaging	Het
Dnah8	T	C	17: 30,958,731 (GRCm39)		probably null	Het
Dnah8	T	A	17: 31,019,505 (GRCm39)	N3859K	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Esm1	A	G	13: 113,349,892 (GRCm39)	Y104C	probably damaging	Het
Fkbp15	T	C	4: 62,239,266 (GRCm39)	K613R	probably damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5592	A	G	7: 40,808,387 (GRCm39)		probably benign	Het
Hdac4	A	G	1: 91,923,842 (GRCm39)	S223P	probably benign	Het
Hypk	A	G	2: 121,286,111 (GRCm39)		probably benign	Het
Kpna1	T	A	16: 35,829,722 (GRCm39)	F70I	probably damaging	Het
Lrp2	A	G	2: 69,296,102 (GRCm39)	Y3336H	probably benign	Het
Mier1	A	G	4: 102,996,670 (GRCm39)	D99G	probably benign	Het
Muc4	T	C	16: 32,754,794 (GRCm38)		probably benign	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or5b121	T	A	19: 13,507,637 (GRCm39)	M244K	probably benign	Het
Peg3	A	T	7: 6,711,419 (GRCm39)	C1268S	probably damaging	Het
Recql4	G	A	15: 76,593,744 (GRCm39)	P122L	probably damaging	Het
Rex2	A	T	4: 147,142,151 (GRCm39)	Q213L	possibly damaging	Het
Rnf25	A	G	1: 74,634,803 (GRCm39)	V73A	probably benign	Het
Sacm1l	A	G	9: 123,411,327 (GRCm39)	D372G	probably benign	Het
Selplg	T	C	5: 113,958,045 (GRCm39)	D87G	probably benign	Het
Sgsh	G	A	11: 119,237,594 (GRCm39)	T340M	probably benign	Het
Slc4a3	A	T	1: 75,534,012 (GRCm39)	I1120F	probably damaging	Het
Snrnp40	T	C	4: 130,282,375 (GRCm39)	Y311H	probably benign	Het
Spata31e2	T	C	1: 26,722,133 (GRCm39)	K1016E	probably damaging	Het
Stard7	A	T	2: 127,111,879 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,161,871 (GRCm39)	K40M	possibly damaging	Het
Sun1	T	C	5: 139,212,646 (GRCm39)		probably null	Het
Tet2	T	A	3: 133,192,667 (GRCm39)	Q589L	probably benign	Het
Tmc7	A	T	7: 118,151,919 (GRCm39)		probably null	Het
Tmt1b	A	G	10: 128,796,549 (GRCm39)	F87L	probably damaging	Het
Unc79	A	T	12: 103,041,213 (GRCm39)	I749F	possibly damaging	Het
Wdr81	A	T	11: 75,343,307 (GRCm39)	D653E	probably benign	Het
Zfat	A	G	15: 68,052,079 (GRCm39)	S572P	probably benign	Het
Zmynd15	G	C	11: 70,352,946 (GRCm39)	E143D	probably damaging	Het
Zzef1	A	G	11: 72,749,170 (GRCm39)	E886G	probably damaging	Het

Other mutations in Ust

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Ust	APN	10	8,173,842 (GRCm39)	missense	probably benign	0.09
IGL03056:Ust	APN	10	8,083,326 (GRCm39)	missense	probably benign	0.01
R0015:Ust	UTSW	10	8,205,829 (GRCm39)	splice site	probably benign
R0417:Ust	UTSW	10	8,121,700 (GRCm39)	missense	probably damaging	1.00
R0423:Ust	UTSW	10	8,173,912 (GRCm39)	missense	probably damaging	1.00
R0533:Ust	UTSW	10	8,123,844 (GRCm39)	splice site	probably benign
R1344:Ust	UTSW	10	8,173,954 (GRCm39)	missense	possibly damaging	0.82
R1436:Ust	UTSW	10	8,183,202 (GRCm39)	missense	probably damaging	1.00
R1803:Ust	UTSW	10	8,173,819 (GRCm39)	critical splice donor site	probably null
R2059:Ust	UTSW	10	8,083,330 (GRCm39)	missense	probably damaging	1.00
R4248:Ust	UTSW	10	8,393,982 (GRCm39)	missense	possibly damaging	0.67
R4811:Ust	UTSW	10	8,121,705 (GRCm39)	missense	probably damaging	0.97
R5912:Ust	UTSW	10	8,173,825 (GRCm39)	missense	probably benign	0.25
R5950:Ust	UTSW	10	8,123,865 (GRCm39)	missense	probably benign	0.33
R7302:Ust	UTSW	10	8,393,973 (GRCm39)	missense	probably damaging	0.99
R7478:Ust	UTSW	10	8,266,650 (GRCm39)	critical splice donor site	probably null
R7685:Ust	UTSW	10	8,083,339 (GRCm39)	missense	probably damaging	1.00
R7704:Ust	UTSW	10	8,205,987 (GRCm39)	missense	probably benign	0.02
R9049:Ust	UTSW	10	8,183,218 (GRCm39)	nonsense	probably null
R9425:Ust	UTSW	10	8,205,873 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCAGAGTACTGTAGGAAGCAG -3'
(R):5'- AAGACGAGCAGAGTACCCTG -3'

Sequencing Primer
(F):5'- CTGAGGGATGCTCAGTGGC -3'
(R):5'- TCTCCATGTGCAGACAGCC -3'

Posted On

2016-06-06