Incidental Mutation 'IGL00479:Galnt3'
ID 7182
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
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # IGL00479
Quality Score
Status
Chromosome 2
Chromosomal Location 65913110-65955217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65925628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 370 (S370P)
Ref Sequence ENSEMBL: ENSMUSP00000028378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028378]
AlphaFold P70419
Predicted Effect probably damaging
Transcript: ENSMUST00000028378
AA Change: S370P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: S370P

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A C 4: 156,255,029 (GRCm39) probably benign Het
Antkmt A G 17: 26,010,418 (GRCm39) Y104H probably damaging Het
Arid4a A G 12: 71,119,367 (GRCm39) K651E probably damaging Het
Atpaf2 A T 11: 60,300,410 (GRCm39) probably null Het
Cd177 G T 7: 24,457,440 (GRCm39) S200R probably benign Het
Cd209g A T 8: 4,185,622 (GRCm39) T19S probably benign Het
Cxcr4 A G 1: 128,516,792 (GRCm39) W290R probably damaging Het
D930020B18Rik T C 10: 121,521,489 (GRCm39) L491P probably damaging Het
Dnah7a T C 1: 53,458,843 (GRCm39) D3765G probably damaging Het
Dpy19l4 T G 4: 11,290,411 (GRCm39) M327L probably benign Het
Eya3 G A 4: 132,431,709 (GRCm39) G314D probably damaging Het
Fmo1 G A 1: 162,657,632 (GRCm39) T503I probably benign Het
Gm5431 A T 11: 48,786,241 (GRCm39) S45T probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Gpat2 A G 2: 127,276,381 (GRCm39) E637G probably damaging Het
Gpr84 T C 15: 103,217,834 (GRCm39) Y81C probably damaging Het
Hnmt A T 2: 23,893,896 (GRCm39) Y199* probably null Het
Homer1 G T 13: 93,483,156 (GRCm39) R81L probably damaging Het
Hspa4 A T 11: 53,171,544 (GRCm39) probably null Het
Marchf6 A G 15: 31,475,909 (GRCm39) I649T probably benign Het
Mcm8 A G 2: 132,659,094 (GRCm39) N26S probably benign Het
Mgat5 T C 1: 127,315,204 (GRCm39) L310P probably damaging Het
Pah T C 10: 87,414,755 (GRCm39) L369P probably benign Het
Parp4 A C 14: 56,853,917 (GRCm39) K844N possibly damaging Het
Tlr5 A G 1: 182,801,394 (GRCm39) T233A probably benign Het
Tsnaxip1 A G 8: 106,568,055 (GRCm39) T274A probably benign Het
Wdr48 A G 9: 119,734,456 (GRCm39) Y125C probably damaging Het
Other mutations in Galnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Galnt3 APN 2 65,928,101 (GRCm39) missense probably damaging 0.97
IGL01973:Galnt3 APN 2 65,914,606 (GRCm39) missense probably benign 0.03
IGL02004:Galnt3 APN 2 65,926,270 (GRCm39) missense probably damaging 1.00
IGL02424:Galnt3 APN 2 65,926,132 (GRCm39) critical splice donor site probably null
IGL02946:Galnt3 APN 2 65,925,562 (GRCm39) missense probably damaging 0.99
IGL03059:Galnt3 APN 2 65,923,954 (GRCm39) missense probably damaging 1.00
PIT4531001:Galnt3 UTSW 2 65,937,432 (GRCm39) missense probably benign 0.03
R0437:Galnt3 UTSW 2 65,937,573 (GRCm39) missense possibly damaging 0.74
R1390:Galnt3 UTSW 2 65,921,567 (GRCm39) missense probably damaging 1.00
R1536:Galnt3 UTSW 2 65,914,550 (GRCm39) missense probably damaging 1.00
R1869:Galnt3 UTSW 2 65,928,123 (GRCm39) missense possibly damaging 0.82
R2987:Galnt3 UTSW 2 65,914,585 (GRCm39) missense probably benign 0.00
R3973:Galnt3 UTSW 2 65,937,374 (GRCm39) missense possibly damaging 0.77
R4039:Galnt3 UTSW 2 65,915,671 (GRCm39) missense probably damaging 0.96
R4515:Galnt3 UTSW 2 65,923,954 (GRCm39) missense probably damaging 1.00
R4518:Galnt3 UTSW 2 65,923,954 (GRCm39) missense probably damaging 1.00
R4519:Galnt3 UTSW 2 65,923,954 (GRCm39) missense probably damaging 1.00
R4577:Galnt3 UTSW 2 65,928,203 (GRCm39) missense probably benign 0.02
R4817:Galnt3 UTSW 2 65,923,883 (GRCm39) missense possibly damaging 0.83
R5008:Galnt3 UTSW 2 65,915,585 (GRCm39) missense probably benign 0.04
R5191:Galnt3 UTSW 2 65,924,050 (GRCm39) missense probably damaging 1.00
R5947:Galnt3 UTSW 2 65,914,500 (GRCm39) utr 3 prime probably benign
R6534:Galnt3 UTSW 2 65,932,875 (GRCm39) missense probably damaging 1.00
R7196:Galnt3 UTSW 2 65,921,268 (GRCm39) missense probably damaging 1.00
R7817:Galnt3 UTSW 2 65,926,243 (GRCm39) missense probably damaging 1.00
R7951:Galnt3 UTSW 2 65,928,186 (GRCm39) missense probably benign 0.00
R7952:Galnt3 UTSW 2 65,928,186 (GRCm39) missense probably benign 0.00
R8071:Galnt3 UTSW 2 65,921,555 (GRCm39) missense probably benign 0.28
R8513:Galnt3 UTSW 2 65,924,064 (GRCm39) nonsense probably null
R8844:Galnt3 UTSW 2 65,915,636 (GRCm39) missense probably benign
Posted On 2012-04-20