ZMP

LOC564281

Ensembl ID:

ENSDARG00000074025

Human Orthologue:

C1GALT1

Human Description:

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 [Source:HGNC Sym

Mouse Orthologue:

C1galt1

Mouse Description:

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 Gene [Source:MGI

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa42818	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa42817	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa42818

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109900	Essential Splice Site	213	273	4	5

Genomic Location (Zv9):

Chromosome 16 (position 50561000)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	47415176
GRCz11	16	47350094

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AAGCTGTGAGGCCGGTGTCTAGCCATTGAAAATAAAGCCATATCATAGAT[G/T]GCTGTCCCCCCACAATAGCCCCTTTCACACAGTGATACCGGTAAATATCC

Long Flanking Sequence:

TGCAATCCCCGCGGTCACAAAAGCTCCCTCCCTGTCATCTGACAGCGGAAAGTCTTGAGTGATTGACGGCTAATATGAACCAATATAGCGGCAGGGAAGAGCGAATTGACCACGTTTTTAGAAAAAAAAAAAACAGGTCGCACTATAACCATAATATGCAGTCGCACGAATGCTCCCAATATATATTATGAGTCGCATAGCTTAAATTTCGGGCGCATATGCGACTAAAATGGTCGCAATTTCGAGCCCTGCTTCTGCTAAGGCCATTTACTAAAGCGTTGCTCTTCTGCTATAACTACATTGCTCATTAGCGTAGCGGTGGTATCGCTACTTCTTAAATCAAATAGCTTTTCAGTAGCAAAGCTATTTTTTAGTCAAGTGGAGCAGTAGCGTCCACACAAGCTACATTTACCGATCACGGATCAATAGGTGACGGCACTGACATTCACAAAGCTGTGAGGCCGGTGTCTAGCCATTGAAAATAAAGCCATATCATAGAT[G/T]GCTGTCCCCCCACAATAGCCCCTTTCACACAGTGATACCGGTAAATATCCGGAAGATTTCCGGAACGACTTTACCGGTATATTCAAAAAAGCGCTGTTCACACAGGCGAGGACGTTACGGAAATTTTCCGGAAAAGAGCATTCACACATCCATTCCAAAATACCGGTAAATTCTGACATCATCAACCACAAATGAGCTTTAAACGGCTGCGCTTGTATTTGTAAACATTTGACTAAATTACAAACTCTGTGGATGATCAATATTGTGAACAACTTTCGCAGGATCACTTTCTCATGTCGAGATGTTCATAATATGTGCGTGTGCAGGCGCTCACAGGCTGTTTCACAGGCACACGCAAAGCTTAAAGGTAAAAAAACAACGGCTTATCATAAGCATCTCATCGATGATTATTTACACAGTTGGCATAAAGAAGAACATATAAACGTGATCTGACTAACTTCTAGCAGCTAAATGTGTCTGGAAAAATATTCAAAGGTTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42817

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109900	Nonsense	239	273	5	5

Genomic Location (Zv9):

Chromosome 16 (position 50559783)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	47413959
GRCz11	16	47348877

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGTTCGGATTTTGTGATTTCTTTTCATTATCTGAGAGCTGCAGACATGTA[C/A]ATGCTGGAGTATTATACGTATCACCTGCGACCATTCGGATACAAGTACAG

Long Flanking Sequence:

CCTGTTCACACATACAGCAAGGTCTGTATGTGTGAAAGGGGCTAATGTCCGCTATGCCCCTGTATCTAACATAATTCTTTTGTAGCGTATAAGTATACTTACATAAAAAAACTGTTTAAATAATAACTATTTTATTAATACGGAACACTTTATTAAAGTTGTTTATTTATTTATTTTTACTGCCTGTAACGGTTCAAGTCAGTAAGAAGTAAGAAGTGTTGTGTTCCTCATTGTGATACTAGTAGTAGCATTTAATACTGAATAACGCACATAGTCAGTACCTGAGGAGATCATCGTCATATTAGTTTATGCTGTTGTTTTGCTGCAACATTGTGGGAAATGGAGGCCTATAGGAATTGTGCACTAATGACAATTGTCCAAAATTACTCTAATTATGTGAAACTGAAGATATATTTTTTGTTTTCTTTTTTCTCTCAGGGCCCGGAGTGCTGTTCGGATTTTGTGATTTCTTTTCATTATCTGAGAGCTGCAGACATGTA[C/A]ATGCTGGAGTATTATACGTATCACCTGCGACCATTCGGATACAAGTACAGATTCAACCCTCATCATCACCAAAACAACACCATTGAGATTAACCAGACAAACACACAATAGACAAAGTATTAGAAAAAGATCTTTAATGTGGCAAAAAACAGTTTACATGAGAACATTTGTGGAGAACAAAAGACTGAAAAACATATACAGACTGAAAATTGATATGAAAATTGTTCGATGTGCATCAAGACTCAATAGTTTTGTGGGTTTTGTTTCAAATAGTTGCATTATAGCACTTGTTCTATTGCATTTTATGTGTGTTTTTCAAAAAGCTACCATTTCATATATTGCAACAACGTTCAGACATTTTGAACTCGCTTGTTTATTGCTCATTTAGGAGACATACACAAAGTTATGTTGTGTGGAAACAGCTATGGTAAAAAAAAATACTTTTGAGAATACTTGCAGTTCCTTCCTAAATTAACCCTTATGTGCTGTTGGGGATGTTT

Associated Phenotype:

Not determined