Incidental Mutation 'IGL02154:Galnt10'
ID282155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt10
Ensembl Gene ENSMUSG00000020520
Gene Namepolypeptide N-acetylgalactosaminyltransferase 10
SynonymsGalnt9, C330012K04Rik, GalNAc-T10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02154
Quality Score
Status
Chromosome11
Chromosomal Location57645442-57787514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 57784705 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Valine at position 597 (L597V)
Ref Sequence ENSEMBL: ENSMUSP00000065096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066987]
Predicted Effect probably damaging
Transcript: ENSMUST00000066987
AA Change: L597V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065096
Gene: ENSMUSG00000020520
AA Change: L597V

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik G A 14: 49,772,942 T436I possibly damaging Het
Armc3 G A 2: 19,286,137 probably null Het
AW551984 G A 9: 39,589,102 R787C possibly damaging Het
Cadm1 A T 9: 47,813,903 I321L probably benign Het
Cfap57 A G 4: 118,613,017 L222P probably damaging Het
Cox20 A G 1: 178,322,554 I98V probably benign Het
Dmrta1 A G 4: 89,691,913 N370S probably benign Het
Dnah17 A G 11: 118,124,261 F386L probably benign Het
Fam135b T C 15: 71,448,710 I1323V probably benign Het
Fndc3b A G 3: 27,538,117 S211P probably damaging Het
Gtf2e2 T C 8: 33,755,961 probably null Het
Inpp4b T A 8: 81,969,501 probably benign Het
Lacc1 A G 14: 77,033,287 V269A probably benign Het
Lrmp T G 6: 145,138,241 M44R possibly damaging Het
Mdn1 A G 4: 32,740,395 D3750G probably benign Het
Mme A T 3: 63,343,555 Q339L probably benign Het
Mmp3 A T 9: 7,453,662 I428L probably benign Het
Myrf A T 19: 10,216,118 I558N probably damaging Het
Olfr671 C T 7: 104,975,981 M1I probably null Het
Phb A G 11: 95,675,171 I94V possibly damaging Het
Prg4 T A 1: 150,454,862 probably benign Het
Sirpb1a T C 3: 15,410,444 T344A probably damaging Het
Skap2 T C 6: 52,012,328 probably benign Het
Slc29a1 A G 17: 45,586,163 I399T probably damaging Het
Sorl1 C T 9: 42,004,034 V1300I probably benign Het
Tas2r117 T C 6: 132,803,715 V272A probably benign Het
Tctn2 C A 5: 124,608,561 noncoding transcript Het
Tmem51 T C 4: 142,031,778 N220D probably damaging Het
Trak2 T C 1: 58,908,729 D584G probably damaging Het
Vmn1r78 A G 7: 12,152,545 I28V probably benign Het
Vmn2r95 A C 17: 18,451,986 I662L probably benign Het
Vwa8 C A 14: 78,849,293 R4S possibly damaging Het
Other mutations in Galnt10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Galnt10 APN 11 57725583 missense probably damaging 1.00
IGL02085:Galnt10 APN 11 57782278 missense probably benign
IGL02418:Galnt10 APN 11 57781168 missense probably benign 0.00
IGL02810:Galnt10 APN 11 57725586 missense probably damaging 0.99
IGL03070:Galnt10 APN 11 57725582 missense probably damaging 1.00
IGL03191:Galnt10 APN 11 57771500 missense probably damaging 1.00
R0257:Galnt10 UTSW 11 57781078 missense probably damaging 1.00
R0483:Galnt10 UTSW 11 57781222 missense probably damaging 1.00
R0681:Galnt10 UTSW 11 57769540 missense probably damaging 1.00
R1102:Galnt10 UTSW 11 57781045 splice site probably benign
R1436:Galnt10 UTSW 11 57771469 missense probably damaging 1.00
R1959:Galnt10 UTSW 11 57765617 missense probably damaging 1.00
R3424:Galnt10 UTSW 11 57645713 missense probably benign
R4445:Galnt10 UTSW 11 57783691 missense probably damaging 0.98
R5183:Galnt10 UTSW 11 57769588 missense probably damaging 1.00
R5369:Galnt10 UTSW 11 57765747 critical splice donor site probably null
R5838:Galnt10 UTSW 11 57781056 missense probably damaging 0.99
R6045:Galnt10 UTSW 11 57783793 missense probably damaging 1.00
R6148:Galnt10 UTSW 11 57784648 missense probably damaging 1.00
R6442:Galnt10 UTSW 11 57765622 missense probably benign 0.03
R6851:Galnt10 UTSW 11 57765632 missense probably damaging 1.00
R6873:Galnt10 UTSW 11 57781219 missense probably damaging 1.00
R7013:Galnt10 UTSW 11 57765584 missense probably benign 0.22
R7696:Galnt10 UTSW 11 57769538 missense probably damaging 1.00
Z1088:Galnt10 UTSW 11 57721331 missense possibly damaging 0.93
Posted On2015-04-16