Incidental Mutation 'IGL02978:Gal3st4'
ID 406455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gal3st4
Ensembl Gene ENSMUSG00000075593
Gene Name galactose-3-O-sulfotransferase 4
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02978
Quality Score
Status
Chromosome 5
Chromosomal Location 138263183-138271102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 138263931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 351 (W351L)
Ref Sequence ENSEMBL: ENSMUSP00000125084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000100530] [ENSMUST00000161647] [ENSMUST00000161279] [ENSMUST00000159067] [ENSMUST00000159123] [ENSMUST00000159146] [ENSMUST00000159649]
AlphaFold Q3V1B8
Predicted Effect probably benign
Transcript: ENSMUST00000048421
SMART Domains Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948

DomainStartEndE-ValueType
low complexity region 53 71 N/A INTRINSIC
low complexity region 75 93 N/A INTRINSIC
low complexity region 95 114 N/A INTRINSIC
low complexity region 215 225 N/A INTRINSIC
low complexity region 488 502 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100530
AA Change: W356L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: W356L

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 2 231 1.1e-57 PFAM
Pfam:Gal-3-0_sulfotr 270 463 1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141454
Predicted Effect probably damaging
Transcript: ENSMUST00000161647
AA Change: W351L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
AA Change: W351L

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 4 226 5.3e-58 PFAM
Pfam:Gal-3-0_sulfotr 265 458 3.8e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161279
AA Change: W356L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: W356L

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 2 231 1.1e-57 PFAM
Pfam:Gal-3-0_sulfotr 270 463 1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162632
Predicted Effect probably benign
Transcript: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159123
SMART Domains Protein: ENSMUSP00000137679
Gene: ENSMUSG00000036948

DomainStartEndE-ValueType
low complexity region 53 71 N/A INTRINSIC
low complexity region 75 93 N/A INTRINSIC
low complexity region 95 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159146
Predicted Effect probably benign
Transcript: ENSMUST00000159649
SMART Domains Protein: ENSMUSP00000125208
Gene: ENSMUSG00000036948

DomainStartEndE-ValueType
low complexity region 219 233 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T A 3: 97,073,875 (GRCm39) F160I probably benign Het
Agt T C 8: 125,284,502 (GRCm39) D412G possibly damaging Het
Als2 C A 1: 59,254,324 (GRCm39) Q344H probably benign Het
Ate1 C A 7: 129,996,470 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,744 (GRCm39) H321R probably damaging Het
Cog2 C A 8: 125,277,075 (GRCm39) H694N probably benign Het
Col11a1 A G 3: 113,855,211 (GRCm39) N157S unknown Het
Cyp3a44 T A 5: 145,725,208 (GRCm39) K331I probably damaging Het
Dnaaf9 T C 2: 130,569,082 (GRCm39) D749G probably damaging Het
H2-T22 A T 17: 36,352,517 (GRCm39) L136H probably benign Het
Ift25 A G 4: 107,132,471 (GRCm39) E86G probably damaging Het
Itpripl1 A T 2: 126,982,932 (GRCm39) F397I probably damaging Het
Lama1 C T 17: 68,093,076 (GRCm39) Q1705* probably null Het
Mfge8 A T 7: 78,791,458 (GRCm39) L248Q probably damaging Het
Mfge8 T C 7: 78,791,476 (GRCm39) E279G possibly damaging Het
Obox3 T C 7: 15,360,178 (GRCm39) T164A probably benign Het
Plat T C 8: 23,266,835 (GRCm39) C276R probably damaging Het
Radil G A 5: 142,480,674 (GRCm39) R594C probably benign Het
Shroom4 T A X: 6,497,244 (GRCm39) D801E probably benign Het
Thsd4 C T 9: 59,964,129 (GRCm39) probably null Het
Vmn2r77 C T 7: 86,460,555 (GRCm39) T627I probably benign Het
Vmn2r97 A T 17: 19,168,298 (GRCm39) T851S probably benign Het
Other mutations in Gal3st4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Gal3st4 APN 5 138,269,664 (GRCm39) start codon destroyed probably null 0.99
IGL01916:Gal3st4 APN 5 138,269,197 (GRCm39) missense probably damaging 1.00
IGL02724:Gal3st4 APN 5 138,263,679 (GRCm39) missense probably benign 0.30
R0506:Gal3st4 UTSW 5 138,264,151 (GRCm39) missense probably benign 0.19
R1858:Gal3st4 UTSW 5 138,269,050 (GRCm39) splice site probably null
R1914:Gal3st4 UTSW 5 138,263,672 (GRCm39) missense probably benign 0.08
R1915:Gal3st4 UTSW 5 138,263,672 (GRCm39) missense probably benign 0.08
R4615:Gal3st4 UTSW 5 138,264,525 (GRCm39) missense probably damaging 0.97
R4805:Gal3st4 UTSW 5 138,263,733 (GRCm39) splice site probably null
R5334:Gal3st4 UTSW 5 138,263,983 (GRCm39) missense probably benign 0.01
R5442:Gal3st4 UTSW 5 138,264,042 (GRCm39) missense possibly damaging 0.71
R6913:Gal3st4 UTSW 5 138,269,090 (GRCm39) missense possibly damaging 0.78
R7795:Gal3st4 UTSW 5 138,269,100 (GRCm39) missense probably benign 0.00
R7948:Gal3st4 UTSW 5 138,269,262 (GRCm39) missense probably benign 0.08
R8792:Gal3st4 UTSW 5 138,269,251 (GRCm39) missense probably damaging 0.99
R9604:Gal3st4 UTSW 5 138,264,011 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02