Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Chst5'

655126

Institutional Source

Beutler Lab

Gene Symbol

Chst5

Ensembl Gene

ENSMUSG00000031952

Gene Name

carbohydrate sulfotransferase 5

Synonyms

I-GlcNAc6ST, GST-4

MMRRC Submission

067835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112615767-112636831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112617422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 66 (V66A)

Ref Sequence

ENSEMBL: ENSMUSP00000034430 (fasta)

Gene Model

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

AlphaFold

Q9QUP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034430
AA Change: V66A

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

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: V66A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,251,521 (GRCm39)	H422L	probably benign	Het
Adgra3	G	T	5: 50,145,013 (GRCm39)	P527T	probably damaging	Het
Afg1l	A	G	10: 42,302,517 (GRCm39)	V161A	probably damaging	Het
Als2cl	A	C	9: 110,714,025 (GRCm39)	E65A	probably damaging	Het
Arl3	A	C	19: 46,546,709 (GRCm39)	S39A	probably benign	Het
Cacna1a	T	C	8: 85,276,087 (GRCm39)	V560A	probably damaging	Het
Ccr10	C	T	11: 101,064,982 (GRCm39)	G183R	probably damaging	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Chkb	A	T	15: 89,312,376 (GRCm39)	V213E	possibly damaging	Het
Crx	C	A	7: 15,602,031 (GRCm39)	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,444,287 (GRCm39)	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,353,129 (GRCm39)	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,739,550 (GRCm39)	F157L	probably damaging	Het
Dnah12	A	T	14: 26,548,849 (GRCm39)		probably null	Het
Dnah14	A	C	1: 181,633,577 (GRCm39)	H4P		Het
Dnah7a	T	C	1: 53,657,142 (GRCm39)	D878G	probably benign	Het
Epb41l1	C	T	2: 156,363,684 (GRCm39)	T731I	probably benign	Het
Epg5	G	C	18: 77,991,946 (GRCm39)	E214D	probably benign	Het
Fam171b	A	G	2: 83,690,864 (GRCm39)	T276A	probably benign	Het
Fat4	G	A	3: 39,035,702 (GRCm39)	R3118H	probably benign	Het
Fbrs	C	T	7: 127,082,329 (GRCm39)	R327W	probably damaging	Het
Fmo3	A	G	1: 162,794,509 (GRCm39)	V187A	possibly damaging	Het
Gins1	T	C	2: 150,772,807 (GRCm39)	V190A	probably benign	Het
Gm17067	T	C	7: 42,358,155 (GRCm39)	S116G	probably damaging	Het
Gm5478	A	G	15: 101,553,862 (GRCm39)	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,848 (GRCm39)	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358 (GRCm39)	N217S	probably damaging	Het
Igf1r	T	C	7: 67,845,377 (GRCm39)	Y889H	probably benign	Het
Itpr2	T	G	6: 146,135,464 (GRCm39)	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,754,407 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,874,933 (GRCm39)	S11P	probably damaging	Het
Klra7	C	T	6: 130,201,109 (GRCm39)	G216R	probably damaging	Het
Krt34	T	C	11: 99,930,901 (GRCm39)	D167G	probably damaging	Het
Larp1b	A	C	3: 40,930,995 (GRCm39)	E291D	probably benign	Het
Lats1	T	A	10: 7,586,688 (GRCm39)	L950*	probably null	Het
Lrrc2	A	C	9: 110,799,218 (GRCm39)	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,505,456 (GRCm39)	M605K	probably benign	Het
Mocos	A	G	18: 24,799,314 (GRCm39)	K183E	probably benign	Het
Mpl	C	A	4: 118,301,213 (GRCm39)		probably null	Het
Mroh9	T	A	1: 162,883,250 (GRCm39)	T410S	probably damaging	Het
Notch3	T	C	17: 32,375,024 (GRCm39)	E430G	probably damaging	Het
Nsun6	T	C	2: 15,034,863 (GRCm39)	T252A	probably benign	Het
Ntrk1	C	A	3: 87,698,976 (GRCm39)		probably null	Het
Nts	G	T	10: 102,320,921 (GRCm39)	T56N	probably damaging	Het
Nup210l	A	G	3: 90,092,874 (GRCm39)	D1276G	probably null	Het
Or4c12b	G	T	2: 89,647,494 (GRCm39)	V269F	probably damaging	Het
Or51a10	C	A	7: 103,698,875 (GRCm39)	A229S	possibly damaging	Het
Or5b105	T	C	19: 13,079,840 (GRCm39)	Y276C	probably damaging	Het
Osbpl8	A	G	10: 111,113,177 (GRCm39)	S535G	possibly damaging	Het
Pax9	A	G	12: 56,743,550 (GRCm39)	I66V	possibly damaging	Het
Pja2	A	G	17: 64,599,843 (GRCm39)	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,465,590 (GRCm39)	L185S	probably benign	Het
Prkdc	T	A	16: 15,608,540 (GRCm39)		probably null	Het
Ptgdr2	A	T	19: 10,917,785 (GRCm39)	T101S	possibly damaging	Het
Ptprd	T	C	4: 75,984,496 (GRCm39)	D550G	probably benign	Het
Ptx3	G	T	3: 66,128,419 (GRCm39)	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,624,714 (GRCm39)	E184A	probably damaging	Het
Rfx3	C	T	19: 27,771,072 (GRCm39)	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,436,779 (GRCm39)	Q111R	probably benign	Het
Spart	A	G	3: 55,032,315 (GRCm39)	D383G	probably damaging	Het
Stpg3	C	A	2: 25,103,333 (GRCm39)	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,449,396 (GRCm39)	Q454*	probably null	Het
Trav10d	A	G	14: 53,048,780 (GRCm39)	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,306,321 (GRCm39)	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,302,332 (GRCm39)	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,692,045 (GRCm39)	E329G	probably benign	Het
Wnk4	C	A	11: 101,166,147 (GRCm39)	C891*	probably null	Het
Zdhhc16	G	T	19: 41,928,093 (GRCm39)	C204F	probably damaging	Het
Zfp868	T	C	8: 70,064,559 (GRCm39)	I259V	possibly damaging	Het
Zranb3	G	T	1: 127,920,647 (GRCm39)	Q426K	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
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
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'- TGACTATAGGAGCTGCAGGC -3'
(R):5'- CATGCTTTCGCTCCTGATGG -3'

Sequencing Primer
(F):5'- TTGCGCACAGAGGCTTACAC -3'
(R):5'- TGGTACAGACTGGCATCCTG -3'

Posted On

2020-10-20