Incidental Mutation 'IGL01143:Gal3st4'
ID51192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gal3st4
Ensembl Gene ENSMUSG00000075593
Gene Namegalactose-3-O-sulfotransferase 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01143
Quality Score
Status
Chromosome5
Chromosomal Location138264921-138272840 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to G at 138271402 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000124841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000100530] [ENSMUST00000159067] [ENSMUST00000161279] [ENSMUST00000161647] [ENSMUST00000161665] [ENSMUST00000161827] [ENSMUST00000161984]
Predicted Effect probably benign
Transcript: ENSMUST00000014089
SMART Domains Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510

DomainStartEndE-ValueType
Pfam:Glypican 7 560 2.8e-186 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100530
AA Change: M1T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: M1T

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 probably benign
Transcript: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161055
Predicted Effect probably null
Transcript: ENSMUST00000161279
AA Change: M1T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: M1T

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 probably benign
Transcript: ENSMUST00000161647
SMART Domains Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593

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 null
Transcript: ENSMUST00000161665
AA Change: M1T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161827
SMART Domains Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510

DomainStartEndE-ValueType
Pfam:Glypican 11 566 3.1e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161984
SMART Domains Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510

DomainStartEndE-ValueType
Pfam:Glypican 7 342 3.7e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162909
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,500,229 probably null Het
Adgrv1 A C 13: 81,419,351 D5234E probably benign Het
Bmp7 G T 2: 172,879,482 H267N probably benign Het
Btbd11 A T 10: 85,654,471 probably benign Het
Ccdc113 T C 8: 95,534,260 V30A probably damaging Het
Ccdc185 A T 1: 182,747,852 L424Q probably damaging Het
Cep192 T A 18: 67,804,375 D58E probably damaging Het
Ces1f C T 8: 93,271,830 probably null Het
Chaf1a T A 17: 56,063,336 D600E possibly damaging Het
Cndp2 A G 18: 84,677,317 probably null Het
Dnah11 T A 12: 118,012,740 D2727V probably damaging Het
Dync1li2 T C 8: 104,429,453 D252G probably damaging Het
Ephx2 C T 14: 66,089,522 R408Q probably damaging Het
Fat1 C A 8: 45,035,532 T3427K possibly damaging Het
Gm5828 T C 1: 16,769,948 noncoding transcript Het
Gm7694 C T 1: 170,302,825 M1I probably null Het
Gpatch1 A G 7: 35,301,572 probably benign Het
Grik1 G T 16: 87,957,600 probably null Het
Gtf2ird2 A G 5: 134,196,553 T161A possibly damaging Het
Hk2 T C 6: 82,729,552 I790V possibly damaging Het
Ints9 G A 14: 65,037,421 V609I probably benign Het
Kcnq4 T G 4: 120,698,623 D585A probably damaging Het
Large2 T C 2: 92,366,339 Y464C probably damaging Het
Lpar6 G A 14: 73,238,637 D13N probably damaging Het
Morn1 T C 4: 155,092,304 Y132H probably damaging Het
Nphp1 C T 2: 127,780,136 V24I probably benign Het
Olfr1141 T C 2: 87,753,934 N20D probably benign Het
Olfr1457 A T 19: 13,095,112 F179I probably damaging Het
Olfr905 G T 9: 38,473,042 M98I possibly damaging Het
Pcdhb13 T C 18: 37,442,637 W23R probably benign Het
Plekhg3 T C 12: 76,564,982 probably null Het
Slx4 T C 16: 3,990,888 K396R probably benign Het
Snx13 A G 12: 35,132,160 D736G probably damaging Het
Spag17 A G 3: 99,939,298 D46G probably benign Het
Spata31 T G 13: 64,920,816 Y259* probably null Het
Synj1 T C 16: 90,951,976 E1064G probably damaging Het
Tom1 A G 8: 75,058,457 T81A probably benign Het
Ttc23l A G 15: 10,530,689 I279T probably damaging Het
Ttc39a T C 4: 109,442,813 probably null Het
Vmn2r108 C A 17: 20,462,465 A826S possibly damaging Het
Zyg11b A T 4: 108,244,994 V510E possibly damaging Het
Other mutations in Gal3st4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Gal3st4 APN 5 138270935 missense probably damaging 1.00
IGL02724:Gal3st4 APN 5 138265417 missense probably benign 0.30
IGL02978:Gal3st4 APN 5 138265669 missense probably damaging 1.00
R0506:Gal3st4 UTSW 5 138265889 missense probably benign 0.19
R1858:Gal3st4 UTSW 5 138270788 splice site probably null
R1914:Gal3st4 UTSW 5 138265410 missense probably benign 0.08
R1915:Gal3st4 UTSW 5 138265410 missense probably benign 0.08
R4615:Gal3st4 UTSW 5 138266263 missense probably damaging 0.97
R4805:Gal3st4 UTSW 5 138265471 splice site probably null
R5334:Gal3st4 UTSW 5 138265721 missense probably benign 0.01
R5442:Gal3st4 UTSW 5 138265780 missense possibly damaging 0.71
R6913:Gal3st4 UTSW 5 138270828 missense possibly damaging 0.78
R7795:Gal3st4 UTSW 5 138270838 missense probably benign 0.00
R7948:Gal3st4 UTSW 5 138271000 missense probably benign 0.08
R8792:Gal3st4 UTSW 5 138270989 missense probably damaging 0.99
Posted On2013-06-21