Incidental Mutation 'IGL03070:Galnt10'
ID 417480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt10
Ensembl Gene ENSMUSG00000020520
Gene Name polypeptide N-acetylgalactosaminyltransferase 10
Synonyms C330012K04Rik, GalNAc-T10, Galnt9
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03070
Quality Score
Status
Chromosome 11
Chromosomal Location 57536268-57678327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57616408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 108 (Y108H)
Ref Sequence ENSEMBL: ENSMUSP00000104474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066987] [ENSMUST00000108846]
AlphaFold Q6P9S7
Predicted Effect probably damaging
Transcript: ENSMUST00000066987
AA Change: Y108H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065096
Gene: ENSMUSG00000020520
AA Change: Y108H

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
low complexity region 38 52 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 145 376 4.7e-8 PFAM
Pfam:Glycos_transf_2 148 333 1.9e-37 PFAM
Pfam:Glyco_tranf_2_2 148 373 3e-7 PFAM
Pfam:Glyco_transf_7C 303 376 2.3e-11 PFAM
RICIN 460 590 4.29e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108846
AA Change: Y108H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104474
Gene: ENSMUSG00000020520
AA Change: Y108H

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
low complexity region 38 52 N/A INTRINSIC
PDB:2D7R|A 53 133 5e-44 PDB
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 a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,193,800 (GRCm39) E404G probably damaging Het
Arid1a A G 4: 133,422,064 (GRCm39) S778P unknown Het
Asah2 A T 19: 31,983,744 (GRCm39) Y567N probably damaging Het
Crb1 G T 1: 139,168,996 (GRCm39) H841N possibly damaging Het
Ehbp1l1 A G 19: 5,765,981 (GRCm39) V1454A probably benign Het
Eif3d A G 15: 77,843,843 (GRCm39) L501P probably damaging Het
Fbxo4 A T 15: 4,007,344 (GRCm39) S107T possibly damaging Het
Hspbap1 T A 16: 35,639,096 (GRCm39) D263E probably damaging Het
Kpna3 T C 14: 61,608,231 (GRCm39) probably benign Het
Miox A G 15: 89,220,287 (GRCm39) T160A possibly damaging Het
Mlxipl G A 5: 135,161,307 (GRCm39) V409M possibly damaging Het
Mrps21 A T 3: 95,777,897 (GRCm39) probably benign Het
Muc6 A G 7: 141,230,834 (GRCm39) probably benign Het
Mup6 A T 4: 60,003,999 (GRCm39) I31F probably damaging Het
Or52s1 A G 7: 102,861,904 (GRCm39) H279R probably benign Het
Pabir1 A C 19: 24,454,316 (GRCm39) D135E probably damaging Het
Pgr T A 9: 8,903,665 (GRCm39) I562N possibly damaging Het
Prag1 T A 8: 36,570,703 (GRCm39) W429R probably benign Het
Prrc2c G T 1: 162,504,978 (GRCm39) P2621Q probably damaging Het
Psip1 T G 4: 83,383,318 (GRCm39) K232N probably damaging Het
Ryr1 T C 7: 28,770,084 (GRCm39) Y2663C probably damaging Het
Trhr2 T A 8: 123,085,342 (GRCm39) Q214L probably benign Het
Txndc11 A T 16: 10,893,151 (GRCm39) Y860N probably damaging Het
Uqcc6 A T 10: 82,455,950 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,401,249 (GRCm39) probably benign Het
Yif1a T A 19: 5,138,757 (GRCm39) H4Q possibly damaging Het
Other mutations in Galnt10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Galnt10 APN 11 57,616,409 (GRCm39) missense probably damaging 1.00
IGL02085:Galnt10 APN 11 57,673,104 (GRCm39) missense probably benign
IGL02154:Galnt10 APN 11 57,675,531 (GRCm39) missense probably damaging 1.00
IGL02418:Galnt10 APN 11 57,671,994 (GRCm39) missense probably benign 0.00
IGL02810:Galnt10 APN 11 57,616,412 (GRCm39) missense probably damaging 0.99
IGL03191:Galnt10 APN 11 57,662,326 (GRCm39) missense probably damaging 1.00
R0257:Galnt10 UTSW 11 57,671,904 (GRCm39) missense probably damaging 1.00
R0483:Galnt10 UTSW 11 57,672,048 (GRCm39) missense probably damaging 1.00
R0681:Galnt10 UTSW 11 57,660,366 (GRCm39) missense probably damaging 1.00
R1102:Galnt10 UTSW 11 57,671,871 (GRCm39) splice site probably benign
R1436:Galnt10 UTSW 11 57,662,295 (GRCm39) missense probably damaging 1.00
R1959:Galnt10 UTSW 11 57,656,443 (GRCm39) missense probably damaging 1.00
R3424:Galnt10 UTSW 11 57,536,539 (GRCm39) missense probably benign
R4445:Galnt10 UTSW 11 57,674,517 (GRCm39) missense probably damaging 0.98
R5183:Galnt10 UTSW 11 57,660,414 (GRCm39) missense probably damaging 1.00
R5369:Galnt10 UTSW 11 57,656,573 (GRCm39) critical splice donor site probably null
R5838:Galnt10 UTSW 11 57,671,882 (GRCm39) missense probably damaging 0.99
R6045:Galnt10 UTSW 11 57,674,619 (GRCm39) missense probably damaging 1.00
R6148:Galnt10 UTSW 11 57,675,474 (GRCm39) missense probably damaging 1.00
R6442:Galnt10 UTSW 11 57,656,448 (GRCm39) missense probably benign 0.03
R6851:Galnt10 UTSW 11 57,656,458 (GRCm39) missense probably damaging 1.00
R6873:Galnt10 UTSW 11 57,672,045 (GRCm39) missense probably damaging 1.00
R7013:Galnt10 UTSW 11 57,656,410 (GRCm39) missense probably benign 0.22
R7696:Galnt10 UTSW 11 57,660,364 (GRCm39) missense probably damaging 1.00
R7950:Galnt10 UTSW 11 57,674,549 (GRCm39) missense probably damaging 0.99
R8208:Galnt10 UTSW 11 57,536,398 (GRCm39) missense possibly damaging 0.85
R8264:Galnt10 UTSW 11 57,673,032 (GRCm39) missense probably benign 0.01
R8743:Galnt10 UTSW 11 57,675,409 (GRCm39) missense probably damaging 1.00
R8924:Galnt10 UTSW 11 57,674,681 (GRCm39) intron probably benign
R9143:Galnt10 UTSW 11 57,612,146 (GRCm39) missense probably benign
R9508:Galnt10 UTSW 11 57,673,040 (GRCm39) missense possibly damaging 0.94
R9760:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
R9777:Galnt10 UTSW 11 57,672,065 (GRCm39) missense probably damaging 0.98
Z1088:Galnt10 UTSW 11 57,612,157 (GRCm39) missense possibly damaging 0.93
Z1177:Galnt10 UTSW 11 57,627,826 (GRCm39) missense probably benign 0.43
Z1186:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1187:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1188:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1189:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1190:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1191:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Z1192:Galnt10 UTSW 11 57,656,514 (GRCm39) missense probably benign
Posted On 2016-08-02