Incidental Mutation 'R7948:Gal3st4'
ID 615967
Institutional Source Beutler Lab
Gene Symbol Gal3st4
Ensembl Gene ENSMUSG00000075593
Gene Name galactose-3-O-sulfotransferase 4
Synonyms
MMRRC Submission 045993-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7948 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 138263183-138271102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138269262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 66 (R66Q)
Ref Sequence ENSEMBL: ENSMUSP00000098099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000100530] [ENSMUST00000159067] [ENSMUST00000161279] [ENSMUST00000161647] [ENSMUST00000161665] [ENSMUST00000161827] [ENSMUST00000161984]
AlphaFold Q3V1B8
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 benign
Transcript: ENSMUST00000100530
AA Change: R66Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: R66Q

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: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161279
AA Change: R66Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: R66Q

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
AA Change: R61Q

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
AA Change: R61Q

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 benign
Transcript: ENSMUST00000161665
AA Change: R66Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593
AA Change: R66Q

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
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.] 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik CGGTCTAGCTGAGCAGGAGGCAGCTCAGG CGG 14: 70,394,815 (GRCm39) probably null Het
Abca8a A T 11: 109,941,805 (GRCm39) Y1155N probably benign Het
Adcy8 C T 15: 64,687,199 (GRCm39) R435K possibly damaging Het
Adgrv1 C A 13: 81,707,648 (GRCm39) V1253F probably damaging Het
Adgrv1 T C 13: 81,707,707 (GRCm39) D1233G probably damaging Het
Baz2a G A 10: 127,961,194 (GRCm39) R1639H possibly damaging Het
Ccdc125 A G 13: 100,832,910 (GRCm39) T496A probably benign Het
Cntnap5a A G 1: 116,508,258 (GRCm39) M1257V probably benign Het
Cpne3 A G 4: 19,528,186 (GRCm39) probably null Het
Cts3 T C 13: 61,713,863 (GRCm39) E288G probably benign Het
Deup1 T C 9: 15,521,944 (GRCm39) K74E possibly damaging Het
Epn1 T A 7: 5,092,992 (GRCm39) Y101* probably null Het
Ercc4 A G 16: 12,948,049 (GRCm39) D422G probably benign Het
Exoc6 A C 19: 37,565,422 (GRCm39) N166T probably benign Het
Fam89a T C 8: 125,478,409 (GRCm39) Y47C probably damaging Het
Fbn1 C A 2: 125,183,219 (GRCm39) Q1753H probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Golm1 C A 13: 59,812,011 (GRCm39) probably null Het
Gtpbp3 A G 8: 71,945,230 (GRCm39) H434R probably damaging Het
Hbegf A G 18: 36,639,752 (GRCm39) L194S possibly damaging Het
Igsf10 A G 3: 59,239,279 (GRCm39) S301P probably benign Het
Il9r A C 11: 32,144,486 (GRCm39) C106W probably damaging Het
Lama5 T C 2: 179,843,994 (GRCm39) D389G probably damaging Het
Lyst T A 13: 13,921,174 (GRCm39) D3373E possibly damaging Het
Mkrn1 T A 6: 39,377,344 (GRCm39) Y361F probably benign Het
Mtrex C T 13: 113,058,296 (GRCm39) R45Q probably benign Het
Muc16 A T 9: 18,553,786 (GRCm39) I4169N unknown Het
Myo7a C T 7: 97,724,236 (GRCm39) G1150S probably damaging Het
Myom2 A G 8: 15,135,306 (GRCm39) D503G probably benign Het
Nmnat3 A G 9: 98,281,535 (GRCm39) I46V probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nrros A T 16: 31,981,076 (GRCm39) N17K unknown Het
Or51a39 C T 7: 102,362,895 (GRCm39) V242I probably benign Het
Patj A T 4: 98,312,547 (GRCm39) K295M probably damaging Het
Pax6 A G 2: 105,516,222 (GRCm39) T167A probably benign Het
Pclo T A 5: 14,815,180 (GRCm39) L1212* probably null Het
Peg3 T A 7: 6,711,781 (GRCm39) Y1147F probably damaging Het
Ppp2r5c T A 12: 110,432,420 (GRCm39) N77K probably benign Het
Prickle2 T C 6: 92,393,903 (GRCm39) I257V possibly damaging Het
Ptprc G A 1: 137,992,314 (GRCm39) T1132I probably benign Het
Serpinb6a G A 13: 34,107,003 (GRCm39) S183L probably benign Het
Slc6a15 T A 10: 103,240,156 (GRCm39) M293K possibly damaging Het
Tmem131 A T 1: 36,833,229 (GRCm39) W1749R probably damaging Het
Trpm8 T A 1: 88,302,091 (GRCm39) Y1020* probably null Het
Ttn G T 2: 76,598,523 (GRCm39) Y19463* probably null Het
Tubgcp5 T A 7: 55,443,996 (GRCm39) D18E probably benign Het
Ubtd1 T A 19: 42,022,174 (GRCm39) F149I probably benign Het
Xirp2 A G 2: 67,349,658 (GRCm39) K3279R possibly damaging Het
Zfp236 T C 18: 82,642,540 (GRCm39) T1117A probably damaging Het
Zfp945 A T 17: 23,071,096 (GRCm39) C289S unknown 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
IGL02978:Gal3st4 APN 5 138,263,931 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAAGGCTTCTGAGTATCCGCAC -3'
(R):5'- CCTGGGAATGTGACTCTTGG -3'

Sequencing Primer
(F):5'- TCTGAGTATCCGCACTCTGGG -3'
(R):5'- ACTCTTGGGGGTAAATCCTCAG -3'
Posted On 2020-01-23