Mutagenetix > Incidental Mutation

Incidental Mutation 'R6657:Chst5'

526669

Institutional Source

Beutler Lab

Gene Symbol

Chst5

Ensembl Gene

ENSMUSG00000031952

Gene Name

carbohydrate sulfotransferase 5

Synonyms

I-GlcNAc6ST, GST-4

MMRRC Submission

044778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6657 (G1)

Quality Score

93.0077

Status

Validated

Chromosome

Chromosomal Location

112615767-112636831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112616906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 238 (R238Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034430 (fasta)

Gene Model

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

AlphaFold

Q9QUP4

Predicted Effect

probably benign
Transcript: ENSMUST00000034430
AA Change: R238Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: R238Q

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 106,435,450 (GRCm39)	L36R	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,393,135 (GRCm39)	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cpxm2	T	C	7: 131,650,806 (GRCm39)	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,855,820 (GRCm39)	E405G	possibly damaging	Het
Ctsh	A	T	9: 89,942,555 (GRCm39)	M37L	probably benign	Het
Eml5	T	G	12: 98,757,664 (GRCm39)	I1843L	probably damaging	Het
Ep400	C	A	5: 110,841,411 (GRCm39)		probably benign	Het
Fbln2	A	G	6: 91,236,732 (GRCm39)	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,607,610 (GRCm39)	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,757 (GRCm39)	D230G	possibly damaging	Het
Itga5	T	C	15: 103,259,222 (GRCm39)	D735G	probably damaging	Het
Kansl2	T	A	15: 98,422,551 (GRCm39)	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,322,398 (GRCm39)	M1078K	probably benign	Het
Mmp24	A	T	2: 155,640,099 (GRCm39)	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,559,697 (GRCm39)	C743*	probably null	Het
Myh14	T	C	7: 44,287,270 (GRCm39)	N618D	probably damaging	Het
Myo19	A	T	11: 84,788,022 (GRCm39)	M324L	probably benign	Het
Nectin2	T	C	7: 19,472,065 (GRCm39)	N108S	probably benign	Het
Nrg2	A	G	18: 36,329,642 (GRCm39)	I191T	probably damaging	Het
Odf4	T	C	11: 68,817,638 (GRCm39)	N18D	probably benign	Het
Or5aq6	T	A	2: 86,923,403 (GRCm39)	I113F	probably benign	Het
Pcsk2	T	G	2: 143,532,286 (GRCm39)	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,127,983 (GRCm39)	Q894H	probably benign	Het
Pfpl	G	A	19: 12,407,290 (GRCm39)	V514I	probably benign	Het
Plbd1	A	T	6: 136,594,250 (GRCm39)	M333K	probably damaging	Het
Plec	A	T	15: 76,062,356 (GRCm39)	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,851,840 (GRCm39)	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,788,977 (GRCm39)	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,877,630 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,315,876 (GRCm39)	W262*	probably null	Het
Sfmbt1	A	G	14: 30,488,053 (GRCm39)	D8G	possibly damaging	Het
Sptbn5	T	G	2: 119,906,881 (GRCm39)		probably benign	Het
Sqor	A	G	2: 122,649,514 (GRCm39)	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,844,701 (GRCm39)	T139S	probably benign	Het
Tcp11	G	A	17: 28,290,646 (GRCm39)	P159S	probably damaging	Het
Tmem262	A	G	19: 6,130,542 (GRCm39)	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 51,933,795 (GRCm39)	T50N	probably damaging	Het
Ttll9	T	C	2: 152,826,182 (GRCm39)	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,402,320 (GRCm39)	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 9,893,090 (GRCm39)	T683I	probably damaging	Het
Vps53	A	T	11: 76,025,253 (GRCm39)	I197N	probably damaging	Het
Washc4	T	A	10: 83,394,482 (GRCm39)	F269L	possibly damaging	Het
Wdfy4	C	T	14: 32,769,208 (GRCm39)	V2086M	possibly damaging	Het
Zfp592	A	T	7: 80,675,234 (GRCm39)	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,161,538 (GRCm39)	F209S	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
R4135:Chst5	UTSW	8	112,616,816 (GRCm39)	missense	probably damaging	1.00
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
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'- GCGTGATATTGTGGATCCAAGTC -3'
(R):5'- GAGGTGCGCTTCTTTAACCTAC -3'

Sequencing Primer
(F):5'- AAGTCTGGAGCTGCGGC -3'
(R):5'- GCATCGTGCACCTAGTG -3'

Posted On

2018-07-23