Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Chst5'

574745

Institutional Source

Beutler Lab

Gene Symbol

Chst5

Ensembl Gene

ENSMUSG00000031952

Gene Name

carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5

Synonyms

GST-4, I-GlcNAc6ST

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111889136-111910447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111890613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 125 (V125A)

Ref Sequence

ENSEMBL: ENSMUSP00000034430 (fasta)

Gene Model

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

AlphaFold

Q9QUP4

Predicted Effect

probably benign
Transcript: ENSMUST00000034430
AA Change: V125A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: V125A

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: 99.0%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,509	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,515,464	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,461,762	V74A	probably benign	Het
Agrn	A	C	4: 156,172,301	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,812,956	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,978,750	Y497C	probably damaging	Het
BC053393	A	G	11: 46,577,458	T120A	possibly damaging	Het
Bpifa2	T	G	2: 154,009,819	S58R	probably benign	Het
Cacna1h	C	T	17: 25,385,626	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,463,324	L112*	probably null	Het
Cd300e	A	T	11: 115,055,302	I111N	probably damaging	Het
Cdkl3	A	T	11: 52,033,542	E552D	probably benign	Het
Clock	A	T	5: 76,266,845	M1K	probably null	Het
Cops7b	T	A	1: 86,601,130	L193Q	probably benign	Het
Csmd1	T	C	8: 16,288,693	T467A	probably damaging	Het
Ctr9	A	G	7: 111,053,408	E971G	unknown	Het
Dcp2	A	G	18: 44,410,187	T271A	probably benign	Het
Dsp	A	G	13: 38,197,196	N2639S	possibly damaging	Het
Fam160a1	T	C	3: 85,730,477	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912	C212W	probably benign	Het
Gpr179	G	T	11: 97,351,594	D141E	probably damaging	Het
Hdhd2	C	T	18: 76,944,115	T89M	probably benign	Het
Hist1h2bc	A	G	13: 23,684,359	Y43C	probably damaging	Het
Krt6b	T	G	15: 101,679,078	T194P	probably benign	Het
Lrp1b	T	C	2: 41,376,018		probably null	Het
Maneal	A	T	4: 124,860,368	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 121,590,616	C11S	unknown	Het
Mapt	G	A	11: 104,322,524	G296E	possibly damaging	Het
Mettl7a3	T	C	15: 100,335,408	V160A	probably benign	Het
Mgam	A	G	6: 40,663,525	N509S	probably benign	Het
Mrgprx1	T	A	7: 48,021,985	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,787,734	D416G	probably benign	Het
Ncan	T	G	8: 70,110,099	D503A	probably benign	Het
Nedd1	A	T	10: 92,711,323		probably null	Het
Ogdh	A	G	11: 6,348,351	T641A	probably benign	Het
Olfr11	T	C	13: 21,639,146	I126V	probably benign	Het
Olfr730	T	A	14: 50,186,558	I221F	probably damaging	Het
Olfr818	A	T	10: 129,945,566	D50E	probably benign	Het
Olfr904	T	A	9: 38,464,143	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,726,185	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 116,354,007	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,245,938	S229T	possibly damaging	Het
Prss43	T	G	9: 110,828,696	I221S	probably damaging	Het
Rasal1	A	T	5: 120,662,937	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,334,560	E348*	probably null	Het
Sfxn5	A	G	6: 85,267,907	Y169H	probably damaging	Het
Skint9	T	C	4: 112,389,231	N228S	probably benign	Het
Slx4ip	A	T	2: 137,000,242	D29V	probably damaging	Het
Snx29	G	T	16: 11,755,316	G474V	probably damaging	Het
Spata6	T	A	4: 111,780,820	D282E	possibly damaging	Het
Srek1	A	T	13: 103,769,382	V77E	probably damaging	Het
Tnfrsf22	T	C	7: 143,640,827	D121G	probably damaging	Het
Ucma	G	A	2: 4,985,359	W122*	probably null	Het
Vmn2r124	T	C	17: 18,062,044	M113T	unknown	Het
Vmn2r54	A	T	7: 12,616,223		probably null	Het
Vmn2r8	A	G	5: 108,800,576	L482S	probably benign	Het
Vwa3a	T	A	7: 120,778,915	I476N	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdr26	A	T	1: 181,187,675	S390R	probably damaging	Het
Zbtb40	A	T	4: 137,000,894	S471T	probably benign	Het

Other mutations in Chst5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Chst5	APN	8	111890682	missense	probably damaging	1.00
IGL02336:Chst5	APN	8	111890317	missense	probably damaging	0.99
IGL02634:Chst5	APN	8	111890845	missense	probably damaging	1.00
R0606:Chst5	UTSW	8	111890919	missense	probably benign	0.05
R1552:Chst5	UTSW	8	111890280	missense	probably damaging	0.99
R2094:Chst5	UTSW	8	111890544	missense	probably benign	0.01
R3769:Chst5	UTSW	8	111889881	missense	possibly damaging	0.67
R4135:Chst5	UTSW	8	111890184	missense	probably damaging	1.00
R4872:Chst5	UTSW	8	111890560	missense	possibly damaging	0.61
R5658:Chst5	UTSW	8	111890790	missense	probably damaging	1.00
R5759:Chst5	UTSW	8	111890210	missense	probably benign	0.25
R5893:Chst5	UTSW	8	111890196	missense	probably damaging	1.00
R6657:Chst5	UTSW	8	111890274	missense	probably benign	0.00
R6731:Chst5	UTSW	8	111890044	missense	probably benign	0.00
R7535:Chst5	UTSW	8	111890163	missense	probably damaging	1.00
R7727:Chst5	UTSW	8	111890925	missense	probably benign	0.25
R7835:Chst5	UTSW	8	111890602	missense	probably damaging	1.00
R7843:Chst5	UTSW	8	111890572	missense	probably benign	0.00
R8257:Chst5	UTSW	8	111890460	missense	probably damaging	1.00
R8324:Chst5	UTSW	8	111890508	missense	probably benign	0.06
R8444:Chst5	UTSW	8	111890763	missense	probably damaging	1.00
R8458:Chst5	UTSW	8	111890790	missense	probably damaging	1.00
R9001:Chst5	UTSW	8	111889902	missense	probably benign
R9223:Chst5	UTSW	8	111890860	missense	probably benign	0.13
R9517:Chst5	UTSW	8	111890020	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TACCCAGGACGATGCCATTG -3'
(R):5'- TGTCTTCTACCTGATGGAGCCG -3'

Sequencing Primer
(F):5'- ACGATGCCATTGTCCCGTG -3'
(R):5'- TACCTGATGGAGCCGGCTTG -3'

Posted On

2019-10-07