Incidental Mutation 'IGL03059:Galnt3'
ID409357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt3
Ensembl Gene ENSMUSG00000026994
Gene Namepolypeptide N-acetylgalactosaminyltransferase 3
SynonymsppGaNTase-T3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.390) question?
Stock #IGL03059
Quality Score
Status
Chromosome2
Chromosomal Location66082766-66124994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 66093610 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 438 (R438H)
Ref Sequence ENSEMBL: ENSMUSP00000028378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028378]
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: 22,899,005 V244A possibly damaging Het
Ccdc187 C A 2: 26,294,241 R48M probably null Het
Cnga2 G A X: 72,008,272 R251H probably damaging Het
Cop1 A C 1: 159,306,709 K174Q probably damaging Het
Cul9 T C 17: 46,538,987 D512G probably damaging Het
Flt4 G A 11: 49,642,307 A1140T probably damaging Het
Gatm G A 2: 122,609,700 A86V probably damaging Het
Klhl28 C T 12: 64,951,566 A385T probably benign Het
Klhl40 T A 9: 121,778,137 V121E probably damaging Het
L1cam T A X: 73,867,024 H30L probably benign Het
Lss A T 10: 76,532,026 probably benign Het
Mrnip A T 11: 50,199,769 Q253H probably damaging Het
Mroh9 A T 1: 163,024,636 F828Y possibly damaging Het
Mst1 T C 9: 108,084,813 C668R probably damaging Het
Nadk A G 4: 155,586,796 E143G probably benign Het
Nap1l4 C T 7: 143,527,165 probably null Het
Nme8 A G 13: 19,652,244 I254T possibly damaging Het
Olfr1382 A G 11: 49,535,194 Y3C probably benign Het
Olfr295 A G 7: 86,585,571 I99V probably benign Het
Olfr374 T A 8: 72,109,998 L144Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkd1l3 C T 8: 109,648,367 L1491F probably damaging Het
Plec G T 15: 76,175,768 T3488N probably damaging Het
Plk2 T G 13: 110,399,134 S497A probably benign Het
Polr1a G A 6: 71,936,512 V617I probably benign Het
Prelid3a C A 18: 67,476,839 Y112* probably null Het
Rnf113a2 C A 12: 84,417,476 S47R possibly damaging Het
Rtel1 A G 2: 181,350,183 N410D probably benign Het
Ryr3 C T 2: 112,800,047 A2140T probably damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Sphkap T A 1: 83,257,242 Q1621L probably damaging Het
Svs1 A T 6: 48,987,415 Y119F probably benign Het
Tcrg-C1 A T 13: 19,215,902 K123* probably null Het
Ttn T A 2: 76,909,519 S3559C probably benign Het
Ubr4 C T 4: 139,480,676 R4923W probably damaging Het
Vac14 T C 8: 110,710,452 L599P probably damaging Het
Wdr5 T C 2: 27,519,734 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
IGL02004:Galnt3 APN 2 66095926 missense probably damaging 1.00
IGL02424:Galnt3 APN 2 66095788 critical splice donor site probably null
IGL02946:Galnt3 APN 2 66095218 missense probably damaging 0.99
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
Posted On2016-08-02