Incidental Mutation 'IGL02004:Galnt3'
ID 182218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt3
Ensembl Gene ENSMUSG00000026994
Gene Name polypeptide N-acetylgalactosaminyltransferase 3
Synonyms ppGaNTase-T3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.335) question?
Stock # IGL02004
Quality Score
Status
Chromosome 2
Chromosomal Location 66082766-66124994 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66095926 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 313 (T313A)
Ref Sequence ENSEMBL: ENSMUSP00000028378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028378]
AlphaFold P70419
Predicted Effect probably damaging
Transcript: ENSMUST00000028378
AA Change: T313A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: T313A

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
coiled coil region 44 75 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 185 440 8.3e-10 PFAM
Pfam:Glycos_transf_2 188 374 1.2e-35 PFAM
Pfam:Glyco_transf_7C 345 423 7.7e-14 PFAM
RICIN 506 630 2.71e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155453
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 UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,191,597 A301E possibly damaging Het
C4b A T 17: 34,739,010 probably benign Het
Cep85 A G 4: 134,167,387 V36A probably damaging Het
Cnot10 A T 9: 114,622,930 F259L probably damaging Het
Crim1 T C 17: 78,372,575 probably benign Het
Crispld1 G A 1: 17,747,520 A216T probably damaging Het
Cyp8b1 T C 9: 121,914,992 I425V probably benign Het
Fat2 A T 11: 55,282,840 V2349D probably damaging Het
Fer G T 17: 63,924,179 probably null Het
Gm4450 T A 3: 98,456,419 R37W probably damaging Het
Igkv10-94 A T 6: 68,704,944 L12* probably null Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kit T A 5: 75,621,014 S368T probably benign Het
Mark1 G A 1: 184,912,589 S390L possibly damaging Het
Mpped1 C A 15: 83,800,156 S126R probably damaging Het
Myh15 A C 16: 49,110,529 probably benign Het
Nat1 G A 8: 67,491,226 E85K probably benign Het
Olfr1500 T C 19: 13,828,063 D111G possibly damaging Het
Pde3b A T 7: 114,519,617 M664L possibly damaging Het
Phrf1 A G 7: 141,260,333 D1147G probably benign Het
Pth1r G T 9: 110,742,308 probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Slc39a7 A C 17: 34,031,121 probably benign Het
Slc6a1 A G 6: 114,314,325 T520A probably benign Het
St3gal2 C A 8: 110,970,172 A317E probably damaging Het
St3gal3 C A 4: 117,960,039 L139F possibly damaging Het
Sval3 T A 6: 41,972,842 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tm4sf1 T C 3: 57,293,078 I68V possibly damaging Het
Tnrc6a T A 7: 123,181,366 N1326K possibly damaging Het
Tvp23b G A 11: 62,892,000 C174Y probably damaging Het
Zfp750 T C 11: 121,512,149 D591G probably benign Het
Other mutations in Galnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Galnt3 APN 2 66095284 missense probably damaging 1.00
IGL01563:Galnt3 APN 2 66097757 missense probably damaging 0.97
IGL01973:Galnt3 APN 2 66084262 missense probably benign 0.03
IGL02424:Galnt3 APN 2 66095788 critical splice donor site probably null
IGL02946:Galnt3 APN 2 66095218 missense probably damaging 0.99
IGL03059:Galnt3 APN 2 66093610 missense probably damaging 1.00
PIT4531001:Galnt3 UTSW 2 66107088 missense probably benign 0.03
R0437:Galnt3 UTSW 2 66107229 missense possibly damaging 0.74
R1390:Galnt3 UTSW 2 66091223 missense probably damaging 1.00
R1536:Galnt3 UTSW 2 66084206 missense probably damaging 1.00
R1869:Galnt3 UTSW 2 66097779 missense possibly damaging 0.82
R2987:Galnt3 UTSW 2 66084241 missense probably benign 0.00
R3973:Galnt3 UTSW 2 66107030 missense possibly damaging 0.77
R4039:Galnt3 UTSW 2 66085327 missense probably damaging 0.96
R4515:Galnt3 UTSW 2 66093610 missense probably damaging 1.00
R4518:Galnt3 UTSW 2 66093610 missense probably damaging 1.00
R4519:Galnt3 UTSW 2 66093610 missense probably damaging 1.00
R4577:Galnt3 UTSW 2 66097859 missense probably benign 0.02
R4817:Galnt3 UTSW 2 66093539 missense possibly damaging 0.83
R5008:Galnt3 UTSW 2 66085241 missense probably benign 0.04
R5191:Galnt3 UTSW 2 66093706 missense probably damaging 1.00
R5947:Galnt3 UTSW 2 66084156 utr 3 prime probably benign
R6534:Galnt3 UTSW 2 66102531 missense probably damaging 1.00
R7196:Galnt3 UTSW 2 66090924 missense probably damaging 1.00
R7817:Galnt3 UTSW 2 66095899 missense probably damaging 1.00
R7951:Galnt3 UTSW 2 66097842 missense probably benign 0.00
R7952:Galnt3 UTSW 2 66097842 missense probably benign 0.00
R8071:Galnt3 UTSW 2 66091211 missense probably benign 0.28
R8513:Galnt3 UTSW 2 66093720 nonsense probably null
R8844:Galnt3 UTSW 2 66085292 missense probably benign
Posted On 2014-05-07