Mutagenetix > Incidental Mutation

Incidental Mutation 'R9517:Chst5'

718653

Institutional Source

Beutler Lab

Gene Symbol

Chst5

Ensembl Gene

ENSMUSG00000031952

Gene Name

carbohydrate sulfotransferase 5

Synonyms

I-GlcNAc6ST, GST-4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9517 (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 112616652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 323 (S323P)

Ref Sequence

ENSEMBL: ENSMUSP00000034430 (fasta)

Gene Model

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

AlphaFold

Q9QUP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034430
AA Change: S323P

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: S323P

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,113,528 (GRCm39)	V264E	probably damaging	Het
Abca15	A	G	7: 119,987,424 (GRCm39)	I1237V	probably benign	Het
Actn2	G	T	13: 12,295,317 (GRCm39)	Q552K	probably damaging	Het
Adnp	A	T	2: 168,024,866 (GRCm39)	C810S	possibly damaging	Het
Aip	A	T	19: 4,168,217 (GRCm39)	I50K	possibly damaging	Het
Arsk	A	G	13: 76,210,638 (GRCm39)	S470P	probably damaging	Het
Aspm	T	A	1: 139,407,167 (GRCm39)	I2018K	probably damaging	Het
Aspn	G	A	13: 49,705,275 (GRCm39)	D46N		Het
C6	G	T	15: 4,827,914 (GRCm39)	C761F	probably damaging	Het
Cdk12	A	T	11: 98,109,910 (GRCm39)	T644S	unknown	Het
Cela3a	T	A	4: 137,131,825 (GRCm39)	I123F	probably damaging	Het
Chchd3	A	T	6: 33,026,317 (GRCm39)	S42T	probably benign	Het
Clec4g	C	A	8: 3,767,452 (GRCm39)	A198S	probably damaging	Het
Dcbld2	T	G	16: 58,253,819 (GRCm39)	D185E	probably benign	Het
Dnah17	A	G	11: 117,915,440 (GRCm39)	V4393A	possibly damaging	Het
Dock9	T	C	14: 121,829,236 (GRCm39)	T1392A	probably benign	Het
Ell2	A	G	13: 75,912,106 (GRCm39)	K464R	possibly damaging	Het
Eme2	G	A	17: 25,114,033 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,480,636 (GRCm39)	I530N	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw25	A	G	9: 109,480,892 (GRCm39)	Y263H		Het
Frem1	T	C	4: 82,901,714 (GRCm39)	Y938C	probably damaging	Het
Gdf10	A	G	14: 33,654,522 (GRCm39)	D343G	probably benign	Het
Gm3415	C	T	5: 146,493,406 (GRCm39)	R84C	possibly damaging	Het
Hap1	A	T	11: 100,240,188 (GRCm39)	V536D	possibly damaging	Het
Icos	T	C	1: 61,032,894 (GRCm39)	F31S	probably damaging	Het
Inpp5d	T	A	1: 87,638,853 (GRCm39)	S812T	probably benign	Het
Kcng4	A	G	8: 120,353,070 (GRCm39)	V280A	probably benign	Het
Ldlr	T	C	9: 21,655,240 (GRCm39)	V623A	possibly damaging	Het
Lipc	T	C	9: 70,709,560 (GRCm39)	T396A	probably benign	Het
Lrit2	T	A	14: 36,794,272 (GRCm39)	C445*	probably null	Het
Lrrc37	G	A	11: 103,433,416 (GRCm39)	T3251I	unknown	Het
Mcc	C	A	18: 44,794,794 (GRCm39)	G10C	probably damaging	Het
Mtfr1l	T	C	4: 134,256,515 (GRCm39)	T217A	probably benign	Het
Mtrr	A	T	13: 68,728,730 (GRCm39)	S23R	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo7a	A	T	7: 97,721,166 (GRCm39)	D1255E	probably damaging	Het
Nfatc1	T	C	18: 80,725,406 (GRCm39)	K453E	probably damaging	Het
Nrap	A	T	19: 56,360,277 (GRCm39)	M466K	probably benign	Het
Or10j3	C	A	1: 173,031,346 (GRCm39)	A141D	possibly damaging	Het
Or11g26	C	A	14: 50,752,770 (GRCm39)	F36L	probably benign	Het
Or4c106	G	A	2: 88,682,947 (GRCm39)	V218I	probably benign	Het
Or4f54	T	G	2: 111,123,033 (GRCm39)	M140R	possibly damaging	Het
Or8b41	T	A	9: 38,054,623 (GRCm39)	M59K	probably damaging	Het
Osbpl1a	A	G	18: 13,042,965 (GRCm39)	V192A	probably benign	Het
Pgd	T	C	4: 149,249,668 (GRCm39)	T35A	possibly damaging	Het
Plcxd3	G	T	15: 4,405,160 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,424,930 (GRCm39)	D171V	possibly damaging	Het
Prmt7	A	G	8: 106,953,930 (GRCm39)	T124A	probably damaging	Het
Pzp	A	G	6: 128,489,117 (GRCm39)		probably null	Het
Rilpl2	A	G	5: 124,607,788 (GRCm39)	V144A	probably benign	Het
Rin3	T	C	12: 102,334,895 (GRCm39)	S269P	unknown	Het
Setbp1	T	C	18: 78,901,322 (GRCm39)	S782G	probably damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Sox6	A	G	7: 115,111,970 (GRCm39)	L552S	possibly damaging	Het
Tent4a	A	G	13: 69,655,059 (GRCm39)	C472R	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r11	A	G	6: 57,114,555 (GRCm39)	D73G	possibly damaging	Het
Vmn1r39	A	C	6: 66,782,258 (GRCm39)	I20R	possibly damaging	Het
Vmn2r82	C	T	10: 79,213,641 (GRCm39)	R76*	probably null	Het
Zhx1	A	T	15: 57,915,812 (GRCm39)	Y811*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AAGATTCCGGTTGCTTCTCC -3'
(R):5'- TTCTTGCAAGATCGCTACCGC -3'

Sequencing Primer
(F):5'- GATGCCCACTTGAAACTGTCCATG -3'
(R):5'- CCTGGTGCGCTACGAGG -3'

Posted On

2022-07-18