Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Chst4'

559113

Institutional Source

Beutler Lab

Gene Symbol

Chst4

Ensembl Gene

ENSMUSG00000035930

Gene Name

carbohydrate sulfotransferase 4

Synonyms

GST-3, HEC-GlcNAc6ST, high endothelial cell GlcNAC-6-sulphotransferase

MMRRC Submission

045235-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110755707-110766033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110756630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 411 (N411S)

Ref Sequence

ENSEMBL: ENSMUSP00000148741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109222] [ENSMUST00000211894] [ENSMUST00000212934]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109222
AA Change: N328S

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104845
Gene: ENSMUSG00000035930
AA Change: N328S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Sulfotransfer_3	41	296	6.4e-15	PFAM
Pfam:Sulfotransfer_1	41	357	2.4e-26	PFAM
low complexity region	370	378	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211894
AA Change: N411S

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000212934

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene do not accumulate lymphocytes in peripheral lymph nodes to as great an extent as normal. The animals are phenotypically normal otherwise. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,706 (GRCm39)	M816L	possibly damaging	Het
Ahnak	T	C	19: 8,995,032 (GRCm39)	F5439L	probably damaging	Het
Apba2	G	A	7: 64,383,293 (GRCm39)	D369N	probably benign	Het
Arhgap32	A	G	9: 32,097,679 (GRCm39)	N228D	probably benign	Het
Arhgap33	T	A	7: 30,225,296 (GRCm39)		probably null	Het
Cacna1g	C	T	11: 94,330,563 (GRCm39)	C984Y	probably benign	Het
Cadm2	C	A	16: 66,679,720 (GRCm39)	G47*	probably null	Het
Ccdc125	A	G	13: 100,826,866 (GRCm39)	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,868,620 (GRCm39)	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc42bpg	A	G	19: 6,360,827 (GRCm39)	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,795,706 (GRCm39)	R275G	probably damaging	Het
Cir1	A	G	2: 73,116,730 (GRCm39)	V210A	probably damaging	Het
Col6a1	A	G	10: 76,552,093 (GRCm39)		probably null	Het
Crmp1	C	A	5: 37,446,161 (GRCm39)	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,367,418 (GRCm39)	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,097,990 (GRCm39)	Q677L	unknown	Het
Dnah17	G	A	11: 118,020,014 (GRCm39)	T11I	probably benign	Het
Ehd1	A	G	19: 6,347,684 (GRCm39)	H346R	probably benign	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Emc3	G	T	6: 113,508,345 (GRCm39)	Y33*	probably null	Het
Ercc5	A	T	1: 44,200,968 (GRCm39)		probably null	Het
Ercc5	G	T	1: 44,200,969 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,834,133 (GRCm39)	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,312,431 (GRCm39)		probably null	Het
Gmnc	C	T	16: 26,779,279 (GRCm39)	D249N	probably benign	Het
Gsn	C	T	2: 35,184,960 (GRCm39)	A305V	probably benign	Het
Haus6	A	T	4: 86,501,989 (GRCm39)	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,558,920 (GRCm39)		probably null	Het
Hoxd9	G	T	2: 74,528,709 (GRCm39)	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,609,200 (GRCm39)	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,436 (GRCm39)	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,722,469 (GRCm39)	V386M	probably damaging	Het
Masp2	A	G	4: 148,696,614 (GRCm39)	S404G	probably benign	Het
Or5b102	A	G	19: 13,041,680 (GRCm39)	I302V	probably benign	Het
Or5m12	T	A	2: 85,734,486 (GRCm39)	Q304L	probably benign	Het
Or7g20	G	T	9: 18,946,628 (GRCm39)	D70Y	probably damaging	Het
P4htm	A	T	9: 108,459,059 (GRCm39)	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,121,538 (GRCm39)	S49P	probably benign	Het
Pdzd7	A	G	19: 45,025,553 (GRCm39)	V314A	probably benign	Het
Pfkl	G	A	10: 77,837,916 (GRCm39)	R31*	probably null	Het
Phlpp2	C	A	8: 110,666,585 (GRCm39)	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 132,994,203 (GRCm39)	S56P	probably benign	Het
Plec	A	G	15: 76,089,905 (GRCm39)	V145A	unknown	Het
Prg3	G	A	2: 84,821,848 (GRCm39)	V158I	probably benign	Het
Prg3	G	T	2: 84,823,367 (GRCm39)	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,677,161 (GRCm39)	T370A	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,287,066 (GRCm39)	M578K	probably damaging	Het
Siae	G	A	9: 37,528,242 (GRCm39)	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,660,511 (GRCm39)	D1864E	probably benign	Het
Smox	T	C	2: 131,362,486 (GRCm39)	I255T	possibly damaging	Het
Spata31e2	G	A	1: 26,721,914 (GRCm39)	L1089F	probably benign	Het
Tas2r123	A	G	6: 132,824,661 (GRCm39)	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,910,378 (GRCm39)	I74F	possibly damaging	Het
Timm44	T	C	8: 4,317,311 (GRCm39)	D238G	probably damaging	Het
Tlk2	T	C	11: 105,112,185 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,931,365 (GRCm39)	S782P	probably damaging	Het
Tpr	A	T	1: 150,282,302 (GRCm39)	K336N	probably damaging	Het
Uggt2	A	T	14: 119,257,049 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,440 (GRCm39)	I812N	probably damaging	Het
Vps33a	T	C	5: 123,673,278 (GRCm39)	Q436R	probably null	Het
Ywhaq	T	C	12: 21,466,870 (GRCm39)	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,665,593 (GRCm39)	S290P	probably damaging	Het

Other mutations in Chst4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Chst4	APN	8	110,756,597 (GRCm39)	missense	probably benign	0.14
A4554:Chst4	UTSW	8	110,756,520 (GRCm39)	missense	probably benign	0.09
R0091:Chst4	UTSW	8	110,757,297 (GRCm39)	missense	probably damaging	1.00
R0373:Chst4	UTSW	8	110,757,026 (GRCm39)	missense	probably damaging	1.00
R1171:Chst4	UTSW	8	110,757,255 (GRCm39)	missense	probably damaging	1.00
R1577:Chst4	UTSW	8	110,756,476 (GRCm39)	missense	probably benign	0.00
R2377:Chst4	UTSW	8	110,756,804 (GRCm39)	missense	possibly damaging	0.80
R3421:Chst4	UTSW	8	110,757,038 (GRCm39)	missense	probably damaging	1.00
R5514:Chst4	UTSW	8	110,756,606 (GRCm39)	missense	probably damaging	1.00
R6793:Chst4	UTSW	8	110,756,699 (GRCm39)	missense	probably damaging	1.00
R7141:Chst4	UTSW	8	110,757,471 (GRCm39)	missense	probably damaging	1.00
R7146:Chst4	UTSW	8	110,757,363 (GRCm39)	missense	probably damaging	1.00
R7732:Chst4	UTSW	8	110,756,514 (GRCm39)	nonsense	probably null
R7871:Chst4	UTSW	8	110,757,545 (GRCm39)	missense	probably damaging	1.00
R8493:Chst4	UTSW	8	110,757,095 (GRCm39)	missense	probably damaging	1.00
Z1176:Chst4	UTSW	8	110,756,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGTGACTAAGGCTGGAACC -3'
(R):5'- CCTGTTCCTGAGGTATGAGGAC -3'

Sequencing Primer
(F):5'- GGGTGCAGACAGACCTCCTTAAC -3'
(R):5'- ATGAGGACCTGGTTCGGGC -3'

Posted On

2019-06-26