Incidental Mutation 'R6793:Chst4'
ID 532701
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 044906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6793 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 110755707-110766033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110756699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 388 (V388D)
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 damaging
Transcript: ENSMUST00000109222
AA Change: V305D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104845
Gene: ENSMUSG00000035930
AA Change: V305D

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000211894
AA Change: V388D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212934
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,052 (GRCm39) N19K possibly damaging Het
A2ml1 G A 6: 128,523,292 (GRCm39) Q1215* probably null Het
Abraxas2 T C 7: 132,476,563 (GRCm39) I98T probably damaging Het
Ankrd17 G A 5: 90,413,371 (GRCm39) T1181I probably damaging Het
Bsn T A 9: 107,991,814 (GRCm39) K1313* probably null Het
Ckap5 T G 2: 91,399,054 (GRCm39) W613G probably damaging Het
Clock GACTCACT GACT 5: 76,384,967 (GRCm39) probably null Het
Enpp1 T C 10: 24,531,723 (GRCm39) D520G probably damaging Het
Epha3 T C 16: 63,593,818 (GRCm39) N90S probably benign Het
Esp36 A T 17: 38,728,005 (GRCm39) M92K unknown Het
Fam135a A G 1: 24,107,006 (GRCm39) V44A possibly damaging Het
Fndc8 T C 11: 82,788,412 (GRCm39) S81P probably damaging Het
Fsip2 T G 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gabrr1 T G 4: 33,162,712 (GRCm39) V426G possibly damaging Het
Igkv6-15 T A 6: 70,383,976 (GRCm39) M1L probably benign Het
Lrrc36 A G 8: 106,185,065 (GRCm39) E614G probably damaging Het
Man1a2 A T 3: 100,539,913 (GRCm39) I176K possibly damaging Het
Mapk4 T A 18: 74,063,539 (GRCm39) N561I probably damaging Het
Med15 A T 16: 17,470,567 (GRCm39) probably benign Het
Mfsd2a A G 4: 122,844,498 (GRCm39) V258A probably benign Het
Micu3 G A 8: 40,833,736 (GRCm39) V457I probably damaging Het
Mov10l1 T A 15: 88,880,387 (GRCm39) V291E possibly damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncbp1 T C 4: 46,157,827 (GRCm39) I355T probably damaging Het
Or51s1 A G 7: 102,558,935 (GRCm39) V37A probably benign Het
Or52ad1 T C 7: 102,995,473 (GRCm39) T221A probably benign Het
Otub2 A G 12: 103,355,278 (GRCm39) probably benign Het
Pcdh15 T C 10: 74,466,971 (GRCm39) S1666P probably damaging Het
Pcdha12 T A 18: 37,155,234 (GRCm39) V651E probably damaging Het
Pomt1 T C 2: 32,132,961 (GRCm39) F186L probably damaging Het
Prl3d3 G A 13: 27,345,044 (GRCm39) A140T probably benign Het
Ptprn G A 1: 75,234,786 (GRCm39) T267I probably benign Het
Qrfprl C T 6: 65,358,405 (GRCm39) A43V probably benign Het
Rhbdd2 T A 5: 135,665,008 (GRCm39) I113N probably damaging Het
Saraf T A 8: 34,635,767 (GRCm39) probably null Het
Slc41a2 T C 10: 83,137,022 (GRCm39) probably null Het
Slc47a1 A G 11: 61,250,229 (GRCm39) V352A probably benign Het
Tmem237 T C 1: 59,153,375 (GRCm39) T49A probably benign Het
Tmem273 A C 14: 32,528,778 (GRCm39) I48L probably benign Het
Tmprss11e C T 5: 86,863,414 (GRCm39) C217Y probably damaging Het
Ubfd1 T C 7: 121,667,103 (GRCm39) V140A probably benign Het
Utrn A G 10: 12,516,669 (GRCm39) probably null Het
Utrn T A 10: 12,574,844 (GRCm39) I1028F possibly damaging Het
Virma C T 4: 11,539,968 (GRCm39) T1479M probably damaging Het
Vwa7 G T 17: 35,243,867 (GRCm39) R767L probably benign Het
Wdfy3 A T 5: 102,065,297 (GRCm39) Y1290* probably null Het
Zfp970 G A 2: 177,167,338 (GRCm39) C304Y probably damaging Het
Other mutations in Chst4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7183:Chst4 UTSW 8 110,756,630 (GRCm39) missense possibly damaging 0.72
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'- AAGATCCAGGGACAGGTTGC -3'
(R):5'- GCCCTATTATGCCATGAAGATCATC -3'

Sequencing Primer
(F):5'- CAGGGACAGGTTGCCTTGTTC -3'
(R):5'- TCATCTGCAAAAGCCAGGTGG -3'
Posted On 2018-08-29