Incidental Mutation 'IGL03059:Galnt3'
ID 409357
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 # IGL03059
Quality Score
Status
Chromosome 2
Chromosomal Location 65913110-65955217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65923954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 438 (R438H)
Ref Sequence ENSEMBL: ENSMUSP00000028378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028378]
AlphaFold P70419
Predicted Effect probably damaging
Transcript: ENSMUST00000028378
AA Change: R438H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: R438H

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,717,755 (GRCm39) V244A possibly damaging Het
Aoc1l3 A T 6: 48,964,349 (GRCm39) Y119F probably benign Het
Ccdc187 C A 2: 26,184,253 (GRCm39) R48M probably null Het
Cnga2 G A X: 71,051,878 (GRCm39) R251H probably damaging Het
Cop1 A C 1: 159,134,279 (GRCm39) K174Q probably damaging Het
Cul9 T C 17: 46,849,913 (GRCm39) D512G probably damaging Het
Flt4 G A 11: 49,533,134 (GRCm39) A1140T probably damaging Het
Gatm G A 2: 122,440,181 (GRCm39) A86V probably damaging Het
Klhl28 C T 12: 64,998,340 (GRCm39) A385T probably benign Het
Klhl40 T A 9: 121,607,203 (GRCm39) V121E probably damaging Het
L1cam T A X: 72,910,630 (GRCm39) H30L probably benign Het
Lss A T 10: 76,367,860 (GRCm39) probably benign Het
Mrnip A T 11: 50,090,596 (GRCm39) Q253H probably damaging Het
Mroh9 A T 1: 162,852,205 (GRCm39) F828Y possibly damaging Het
Mst1 T C 9: 107,962,012 (GRCm39) C668R probably damaging Het
Nadk A G 4: 155,671,253 (GRCm39) E143G probably benign Het
Nap1l4 C T 7: 143,080,902 (GRCm39) probably null Het
Nme8 A G 13: 19,836,414 (GRCm39) I254T possibly damaging Het
Or14c41 A G 7: 86,234,779 (GRCm39) I99V probably benign Het
Or1ab2 T A 8: 72,863,842 (GRCm39) L144Q probably damaging Het
Or2y12 A G 11: 49,426,021 (GRCm39) Y3C probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkd1l3 C T 8: 110,374,999 (GRCm39) L1491F probably damaging Het
Plec G T 15: 76,059,968 (GRCm39) T3488N probably damaging Het
Plk2 T G 13: 110,535,668 (GRCm39) S497A probably benign Het
Polr1a G A 6: 71,913,496 (GRCm39) V617I probably benign Het
Prelid3a C A 18: 67,609,909 (GRCm39) Y112* probably null Het
Rnf113a2 C A 12: 84,464,250 (GRCm39) S47R possibly damaging Het
Rtel1 A G 2: 180,991,976 (GRCm39) N410D probably benign Het
Ryr3 C T 2: 112,630,392 (GRCm39) A2140T probably damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Sphkap T A 1: 83,234,963 (GRCm39) Q1621L probably damaging Het
Trgc1 A T 13: 19,400,072 (GRCm39) K123* probably null Het
Ttn T A 2: 76,739,863 (GRCm39) S3559C probably benign Het
Ubr4 C T 4: 139,207,987 (GRCm39) R4923W probably damaging Het
Vac14 T C 8: 111,437,084 (GRCm39) L599P probably damaging Het
Wdr5 T C 2: 27,409,746 (GRCm39) probably benign Het
Other mutations in Galnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Galnt3 APN 2 65,925,628 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02