Incidental Mutation 'IGL00401:Galnt13'
ID26797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galnt13
Ensembl Gene ENSMUSG00000060988
Gene Namepolypeptide N-acetylgalactosaminyltransferase 13
Synonymspp-GalNAc-T13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL00401
Quality Score
Status
Chromosome2
Chromosomal Location54436317-55118309 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) C to T at 54516535 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068595] [ENSMUST00000112634] [ENSMUST00000112635] [ENSMUST00000112636] [ENSMUST00000136642]
Predicted Effect probably benign
Transcript: ENSMUST00000068595
SMART Domains Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 368 1.5e-11 PFAM
Pfam:Glycos_transf_2 118 302 7.4e-35 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.1e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.8e-9 PFAM
RICIN 427 550 9.63e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112634
SMART Domains Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 367 2.7e-10 PFAM
Pfam:Glycos_transf_2 118 302 1.8e-38 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.2e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.9e-10 PFAM
RICIN 427 586 5.34e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112635
SMART Domains Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 368 1.5e-11 PFAM
Pfam:Glycos_transf_2 118 302 7.4e-35 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.1e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.8e-9 PFAM
RICIN 427 550 9.63e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112636
SMART Domains Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 368 1.5e-11 PFAM
Pfam:Glycos_transf_2 118 302 7.4e-35 PFAM
Pfam:Glyco_tranf_2_2 118 343 3.1e-7 PFAM
Pfam:Glyco_transf_7C 280 348 4.8e-9 PFAM
RICIN 427 550 9.63e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136642
SMART Domains Protein: ENSMUSP00000115879
Gene: ENSMUSG00000060988

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]
PHENOTYPE: Galnt13 is expressed exclusively in neuronal cells. Conditional animals can be used with cre-expressing strains to produce total or tissue-specific deletion of this locus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 71,895,748 D1164V probably damaging Het
Baiap3 T G 17: 25,244,328 L964F probably damaging Het
Cacna2d2 T A 9: 107,514,873 V471E probably damaging Het
Carmil3 C T 14: 55,498,298 T569M probably damaging Het
Dapk2 G T 9: 66,268,778 probably benign Het
Eps15l1 A T 8: 72,384,838 Y291* probably null Het
Fancd2 T C 6: 113,564,396 probably null Het
Fmnl2 T G 2: 53,114,917 D674E probably damaging Het
Foxq1 A T 13: 31,559,277 I121F probably damaging Het
Git1 T C 11: 77,498,956 probably benign Het
Gm10220 A T 5: 26,118,611 F146Y possibly damaging Het
Gm7353 A G 7: 3,110,630 noncoding transcript Het
Hspa9 G A 18: 34,938,580 probably benign Het
Kptn A G 7: 16,120,125 D56G possibly damaging Het
Krtap4-13 A T 11: 99,809,717 C39S unknown Het
Lgsn A G 1: 31,203,566 K243R possibly damaging Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Mettl3 T A 14: 52,296,967 probably benign Het
Myh6 T A 14: 54,953,417 M934L probably benign Het
Nmnat2 A G 1: 153,094,117 probably null Het
Pias2 T A 18: 77,133,211 C381S probably damaging Het
Psme4 T C 11: 30,821,079 probably benign Het
Smc4 T A 3: 69,030,379 D887E probably damaging Het
Sorcs2 C A 5: 36,037,401 probably null Het
Tet2 T C 3: 133,466,882 E1873G possibly damaging Het
Txlng T A X: 162,782,309 K341* probably null Het
Ugt2b37 T A 5: 87,242,481 T369S possibly damaging Het
Usp46 C A 5: 74,003,171 V302F probably damaging Het
Zfp292 A G 4: 34,808,683 C1454R probably benign Het
Other mutations in Galnt13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Galnt13 APN 2 54880104 missense probably benign 0.37
IGL01533:Galnt13 APN 2 54880132 missense probably damaging 1.00
IGL01862:Galnt13 APN 2 54857914 missense probably damaging 1.00
IGL02363:Galnt13 APN 2 55112860 missense probably damaging 1.00
IGL02493:Galnt13 APN 2 54880137 missense probably benign 0.05
IGL03108:Galnt13 APN 2 54854648 missense probably benign 0.02
IGL03219:Galnt13 APN 2 54933435 missense possibly damaging 0.85
R0142:Galnt13 UTSW 2 55098603 missense probably damaging 1.00
R0324:Galnt13 UTSW 2 54854616 missense probably benign 0.01
R0379:Galnt13 UTSW 2 55060492 missense possibly damaging 0.72
R1321:Galnt13 UTSW 2 55098594 missense probably damaging 0.98
R1509:Galnt13 UTSW 2 54733082 missense probably damaging 1.00
R1521:Galnt13 UTSW 2 54854645 missense probably benign
R1539:Galnt13 UTSW 2 54857857 missense probably damaging 1.00
R1638:Galnt13 UTSW 2 54854655 missense probably damaging 1.00
R1640:Galnt13 UTSW 2 55060546 missense probably damaging 1.00
R2299:Galnt13 UTSW 2 55060583 missense possibly damaging 0.61
R2365:Galnt13 UTSW 2 54854697 missense possibly damaging 0.85
R2367:Galnt13 UTSW 2 55112944 missense probably benign 0.00
R3687:Galnt13 UTSW 2 54880062 missense probably benign 0.31
R3726:Galnt13 UTSW 2 55098657 missense probably damaging 1.00
R3730:Galnt13 UTSW 2 54933507 missense possibly damaging 0.91
R3731:Galnt13 UTSW 2 54933507 missense possibly damaging 0.91
R4626:Galnt13 UTSW 2 54857866 missense probably damaging 1.00
R4880:Galnt13 UTSW 2 55060572 missense probably damaging 1.00
R4928:Galnt13 UTSW 2 54516565 missense probably damaging 1.00
R5421:Galnt13 UTSW 2 54857896 missense probably damaging 1.00
R6136:Galnt13 UTSW 2 54516479 start gained probably benign
R6244:Galnt13 UTSW 2 54933548 missense probably damaging 1.00
R6725:Galnt13 UTSW 2 54855232 missense probably damaging 1.00
R7058:Galnt13 UTSW 2 55098575 missense probably damaging 0.99
R7448:Galnt13 UTSW 2 54516564 missense possibly damaging 0.94
Posted On2013-04-17