Mutagenetix > Incidental Mutation

Incidental Mutation 'R4135:Chst5'

314851

Institutional Source

Beutler Lab

Gene Symbol

Chst5

Ensembl Gene

ENSMUSG00000031952

Gene Name

carbohydrate sulfotransferase 5

Synonyms

I-GlcNAc6ST, GST-4

MMRRC Submission

040995-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112615767-112636831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112616816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 268 (Y268C)

Ref Sequence

ENSEMBL: ENSMUSP00000034430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034430]

AlphaFold

Q9QUP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034430
AA Change: Y268C

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

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: Y268C

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Sulfotransfer_1	40	357	1.2e-25	PFAM
Pfam:Sulfotransfer_3	41	294	4.7e-16	PFAM
low complexity region	363	376	N/A	INTRINSIC

Meta Mutation Damage Score

0.9681

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutation of this gene results in thinner corneas that show abnormally close collagen fibrillar packing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,905,092 (GRCm39)		probably benign	Het
Bak1	T	A	17: 27,240,244 (GRCm39)	T148S	possibly damaging	Het
Cdc25a	C	A	9: 109,710,585 (GRCm39)	H157Q	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,309,084 (GRCm39)	T224A	probably benign	Het
Cux1	T	C	5: 136,336,750 (GRCm39)	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
Dock2	T	C	11: 34,605,328 (GRCm39)	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Gm6987	T	A	X: 93,068,216 (GRCm39)		noncoding transcript	Het
Hbp1	A	T	12: 31,984,421 (GRCm39)	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 106,249,798 (GRCm39)	V303A	probably benign	Het
Htr5a	A	G	5: 28,047,690 (GRCm39)	M82V	probably benign	Het
Mcc	T	C	18: 44,857,707 (GRCm39)	D136G	probably benign	Het
Mrpl32	C	T	13: 14,787,564 (GRCm39)	V14M	probably damaging	Het
Msl1	A	G	11: 98,687,126 (GRCm39)	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,329,648 (GRCm39)		probably null	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,117,823 (GRCm39)	W516R	possibly damaging	Het
Or2ag1	A	G	7: 106,313,210 (GRCm39)	L226P	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or2y3	A	G	17: 38,393,248 (GRCm39)	V207A	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Or5af1	C	A	11: 58,722,820 (GRCm39)	T280K	probably damaging	Het
Pate5	A	G	9: 35,750,724 (GRCm39)	S33P	possibly damaging	Het
Pold3	T	A	7: 99,749,854 (GRCm39)	R104*	probably null	Het
Rapsn	A	T	2: 90,867,162 (GRCm39)	N155Y	probably damaging	Het
Rorc	C	A	3: 94,296,826 (GRCm39)	Q269K	probably damaging	Het
Rreb1	A	T	13: 38,131,099 (GRCm39)	N1418Y	probably damaging	Het
Rusc2	G	A	4: 43,425,563 (GRCm39)	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,506,040 (GRCm39)	I616T	probably damaging	Het
Ttc6	T	A	12: 57,679,581 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,338,810 (GRCm39)	Y58F	probably damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Vwa5b1	A	T	4: 138,321,641 (GRCm39)	M384K	possibly damaging	Het
Washc3	G	A	10: 88,055,142 (GRCm39)	E111K	probably benign	Het
Xirp2	A	G	2: 67,355,741 (GRCm39)	S3501G	probably benign	Het
Zfp1004	A	T	2: 150,023,788 (GRCm39)		probably benign	Het
Zfp352	C	T	4: 90,113,261 (GRCm39)	T467M	probably damaging	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het
Zfp810	T	C	9: 22,190,369 (GRCm39)	K180E	probably damaging	Het

Other mutations in Chst5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Chst5	APN	8	112,617,314 (GRCm39)	missense	probably damaging	1.00
IGL02336:Chst5	APN	8	112,616,949 (GRCm39)	missense	probably damaging	0.99
IGL02634:Chst5	APN	8	112,617,477 (GRCm39)	missense	probably damaging	1.00
R0606:Chst5	UTSW	8	112,617,551 (GRCm39)	missense	probably benign	0.05
R1552:Chst5	UTSW	8	112,616,912 (GRCm39)	missense	probably damaging	0.99
R2094:Chst5	UTSW	8	112,617,176 (GRCm39)	missense	probably benign	0.01
R3769:Chst5	UTSW	8	112,616,513 (GRCm39)	missense	possibly damaging	0.67
R4872:Chst5	UTSW	8	112,617,192 (GRCm39)	missense	possibly damaging	0.61
R5658:Chst5	UTSW	8	112,617,422 (GRCm39)	missense	probably damaging	1.00
R5759:Chst5	UTSW	8	112,616,842 (GRCm39)	missense	probably benign	0.25
R5893:Chst5	UTSW	8	112,616,828 (GRCm39)	missense	probably damaging	1.00
R6657:Chst5	UTSW	8	112,616,906 (GRCm39)	missense	probably benign	0.00
R6731:Chst5	UTSW	8	112,616,676 (GRCm39)	missense	probably benign	0.00
R7406:Chst5	UTSW	8	112,617,245 (GRCm39)	missense	probably benign	0.00
R7535:Chst5	UTSW	8	112,616,795 (GRCm39)	missense	probably damaging	1.00
R7727:Chst5	UTSW	8	112,617,557 (GRCm39)	missense	probably benign	0.25
R7835:Chst5	UTSW	8	112,617,234 (GRCm39)	missense	probably damaging	1.00
R7843:Chst5	UTSW	8	112,617,204 (GRCm39)	missense	probably benign	0.00
R8257:Chst5	UTSW	8	112,617,092 (GRCm39)	missense	probably damaging	1.00
R8324:Chst5	UTSW	8	112,617,140 (GRCm39)	missense	probably benign	0.06
R8444:Chst5	UTSW	8	112,617,395 (GRCm39)	missense	probably damaging	1.00
R8458:Chst5	UTSW	8	112,617,422 (GRCm39)	missense	probably damaging	1.00
R9001:Chst5	UTSW	8	112,616,534 (GRCm39)	missense	probably benign
R9223:Chst5	UTSW	8	112,617,492 (GRCm39)	missense	probably benign	0.13
R9517:Chst5	UTSW	8	112,616,652 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CCCTGGATGTGGTCTTGAAG -3'
(R):5'- GGTGCGCTTCTTTAACCTACAGG -3'

Sequencing Primer
(F):5'- TCTTGAAGGCTTCACGGC -3'
(R):5'- TCAACCTGCGCATCGTG -3'

Posted On

2015-05-14