Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Chst5'

457304

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

044094-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5893 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

111889136-111910447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111890196 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 264 (L264S)

Ref Sequence

ENSEMBL: ENSMUSP00000034430 (fasta)

Gene Model

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

AlphaFold

Q9QUP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034430
AA Change: L264S

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

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: L264S

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,215,853	R35S	probably benign	Het
Acacb	A	T	5: 114,229,851	I1637F	probably benign	Het
Adamts18	A	T	8: 113,773,077	C402S	probably damaging	Het
Adra2b	T	A	2: 127,364,482	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,778,920	T263I	probably damaging	Het
Antxr1	T	C	6: 87,137,259	I509V	probably benign	Het
Bahcc1	A	G	11: 120,285,430	E1967G	probably damaging	Het
Brap	T	A	5: 121,679,342	Y337*	probably null	Het
Brca2	T	C	5: 150,569,138	V3206A	probably benign	Het
C330027C09Rik	A	G	16: 48,997,500	S78G	probably benign	Het
Cacna1e	A	T	1: 154,437,323	F1486I	probably damaging	Het
Cbx4	A	G	11: 119,082,190	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,151,351	Q137L	probably benign	Het
Ceacam12	A	G	7: 18,069,374	D235G	probably damaging	Het
Celsr1	A	G	15: 85,904,014	V2679A	probably benign	Het
Champ1	C	T	8: 13,878,777	P312S	probably benign	Het
Colec10	T	A	15: 54,410,789	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,308,928	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,330,389	A438P	possibly damaging	Het
Dlat	A	G	9: 50,644,139		probably benign	Het
Dmxl2	A	G	9: 54,387,420	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,457,785	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,122,447	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,431	E948G	probably benign	Het
Eps8l2	C	T	7: 141,357,624	R384C	probably damaging	Het
Fam174a	A	T	1: 95,325,159	N162I	probably damaging	Het
Fbp2	T	A	13: 62,837,102	N335I	probably benign	Het
Foxred2	C	A	15: 77,947,144	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,898,913	D200E	probably damaging	Het
Gdf15	A	T	8: 70,629,823	V211E	possibly damaging	Het
Gm13084	T	A	4: 143,810,468	Y431F	probably damaging	Het
Gm13178	C	T	4: 144,703,196	V408I	probably benign	Het
Gm5065	A	T	7: 5,359,624	T85S	probably benign	Het
Gm6214	A	G	3: 140,839,346		noncoding transcript	Het
Havcr2	A	G	11: 46,456,316	Y40C	probably damaging	Het
Htra1	T	G	7: 130,961,591	V184G	probably damaging	Het
Hydin	A	T	8: 110,490,676	I1399F	probably benign	Het
Igtp	T	C	11: 58,206,648	L215P	probably damaging	Het
Kctd1	T	C	18: 14,969,688	E812G	possibly damaging	Het
Lap3	T	C	5: 45,511,279		probably benign	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,863,244	V173E	probably damaging	Het
Nat10	A	C	2: 103,721,839		probably benign	Het
Ndfip2	T	A	14: 105,294,857	V229E	probably damaging	Het
Nefh	G	A	11: 4,941,323	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,457,852	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,293,953	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,662,473	S221G	probably benign	Het
Orc4	G	T	2: 48,905,547	S389*	probably null	Het
P4hb	A	G	11: 120,571,650	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,617,797		probably null	Het
Plagl1	T	C	10: 13,128,194		probably benign	Het
Poglut1	C	T	16: 38,529,595	R272Q	probably damaging	Het
Rdh5	T	C	10: 128,914,221		probably null	Het
Rogdi	A	T	16: 5,013,394	L3*	probably null	Het
Skap1	T	C	11: 96,581,398	*166Q	probably null	Het
Slc38a4	A	G	15: 96,999,551	I461T	probably benign	Het
Snx31	A	C	15: 36,523,455	I360M	probably damaging	Het
Spata22	A	T	11: 73,336,247	K96*	probably null	Het
Strn3	A	T	12: 51,643,223		probably null	Het
Trip12	A	C	1: 84,759,163		probably benign	Het
Uggt1	A	T	1: 36,227,628		probably null	Het
Upk3a	A	C	15: 85,019,337	D79A	probably damaging	Het
Uts2r	A	T	11: 121,161,279	Y323F	probably benign	Het
Vmn2r1	A	T	3: 64,086,553	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,902,839		probably null	Het
Wnt7b	A	G	15: 85,581,374		probably benign	Het
Zfp410	T	A	12: 84,337,611		probably null	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
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
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'- TGGTCTTGAAGGCTTCACG -3'
(R):5'- GTGCGCTTCTTTAACCTACAGG -3'

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

Posted On

2017-02-15