Mutagenetix > Incidental Mutations

Incidental Mutation 'R8444:Chst5'

654390

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111889136-111910447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111890763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 75 (H75R)

Ref Sequence

ENSEMBL: ENSMUSP00000034430 (fasta)

Gene Model

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

AlphaFold

Q9QUP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034430
AA Change: H75R

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

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: H75R

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: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,236,929	R56S	possibly damaging	Het
1700013F07Rik	A	G	3: 108,544,068	H115R	probably benign	Het
Abca14	T	A	7: 120,318,910	I1545K	probably damaging	Het
Abca3	A	G	17: 24,383,985	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,174,636	V535A	probably benign	Het
Adcy9	T	C	16: 4,288,623	T1113A	probably damaging	Het
Afdn	A	T	17: 13,883,800	N1133Y	probably benign	Het
Aip	T	A	19: 4,116,034	D139V	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Aldh16a1	G	A	7: 45,149,691	P56S	probably benign	Het
Alpk3	A	C	7: 81,057,720	T31P	probably benign	Het
Aoc3	G	T	11: 101,341,747	R466S	unknown	Het
Atoh1	T	C	6: 64,729,657	L112P	probably benign	Het
Atp2b2	T	A	6: 113,793,811	N424I	probably benign	Het
Brms1	T	C	19: 5,041,492		probably null	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd34	T	A	1: 194,958,500	S224R	probably benign	Het
Cdh20	T	A	1: 104,970,858	F437I	probably benign	Het
Cdkal1	A	T	13: 29,326,104	V557E	probably benign	Het
Col5a2	A	T	1: 45,396,145	N713K	probably benign	Het
Cpne5	A	T	17: 29,188,383	M181K	probably benign	Het
Cpt1a	T	C	19: 3,381,981	F731S	probably benign	Het
Cyfip1	A	G	7: 55,872,154	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,570,823	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,273,952	H805L	probably benign	Het
Dnm1l	C	T	16: 16,341,042	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,089,579	D612V	probably benign	Het
Ephb2	C	T	4: 136,661,400	G628R	probably damaging	Het
Esrrb	G	A	12: 86,505,821	R195H	probably benign	Het
Flg2	A	T	3: 93,200,278	E23D	probably damaging	Het
Gja8	A	G	3: 96,919,674	L224P	probably damaging	Het
Hps6	T	G	19: 46,005,428	S601R	possibly damaging	Het
Ice1	T	C	13: 70,604,376	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,403,969	A366D	possibly damaging	Het
Ighm	A	C	12: 113,421,193	S347A		Het
Immt	C	T	6: 71,871,508	R494*	probably null	Het
Irs2	A	G	8: 11,006,683	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,926,140	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245	I716F	probably benign	Het
Klhl1	T	A	14: 96,517,890	D143V	probably benign	Het
Lrp1b	T	C	2: 40,870,260	T2999A		Het
Map3k9	A	G	12: 81,722,196	L1026P	probably damaging	Het
Mtg1	T	C	7: 140,138,370	V54A	probably damaging	Het
Mx1	G	T	16: 97,451,487	C231*	probably null	Het
Olfr1129	G	A	2: 87,575,739	M218I	probably benign	Het
Olfr478	C	A	7: 108,031,863	W160L	probably benign	Het
Olfr507	A	G	7: 108,621,820	I3V	probably benign	Het
Olfr680-ps1	A	G	7: 105,090,958	V227A	probably damaging	Het
Olfr808	T	A	10: 129,767,925	V143E	probably damaging	Het
Otogl	T	A	10: 107,857,114	E836D	probably benign	Het
Pde6d	A	G	1: 86,543,528	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pon1	C	T	6: 5,177,327	W194*	probably null	Het
Rbm25	T	A	12: 83,664,251	S379R	unknown	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Shoc2	A	G	19: 53,988,072	Y131C	probably damaging	Het
Slc17a2	A	T	13: 23,819,078	H237L	probably benign	Het
Slc23a1	T	A	18: 35,624,436	M261L	possibly damaging	Het
Slc35d1	G	C	4: 103,214,699	I35M		Het
Slc8b1	C	T	5: 120,513,138		probably benign	Het
Smr3a	A	C	5: 88,004,752	L8F	unknown	Het
Snx8	G	A	5: 140,358,174	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,775,548	V325A	possibly damaging	Het
Stk40	A	G	4: 126,118,334	T10A	probably benign	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Trim6	G	A	7: 104,232,672	V403M	probably damaging	Het
Ttc25	G	T	11: 100,561,905		probably null	Het
Tysnd1	A	G	10: 61,696,171	R201G	probably benign	Het
Vmn2r67	A	T	7: 85,136,646	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,738,175	V727A	probably benign	Het
Wdr49	A	C	3: 75,451,690	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,432,631	V247A	probably benign	Het
Zfp532	C	A	18: 65,624,259	A421E	possibly damaging	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
R7406:Chst5	UTSW	8	111890613	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
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

Predicted Primers

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

Sequencing Primer
(F):5'- CTGCTGATGTTGCCACGAG -3'
(R):5'- GTACAGACTGGCATCCTGGTCTTC -3'

Posted On

2020-10-20