ZMP

asph

Ensembl ID:

ENSDARG00000055945

ZFIN ID:

ZDB-GENE-031112-5

Description:

Aspartate beta-hydroxylase [Source:UniProtKB/TrEMBL;Acc:B0S5J6]

Human Orthologue:

ASPH

Human Description:

aspartate beta-hydroxylase [Source:HGNC Symbol;Acc:757]

Mouse Orthologue:

Asph

Mouse Description:

aspartate-beta-hydroxylase Gene [Source:MGI Symbol;Acc:MGI:1914186]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa30821	Nonsense	Mutation detected in F1 DNA	Not yet available
sa32929	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa30821

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:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099208	Nonsense	72	472	3	10
ENSDART00000121670	Nonsense	72	443	3	7
ENSDART00000133202	Nonsense	72	183	3	5

The following transcripts of ENSDARG00000055945 do not overlap with this mutation:

ENSDART00000133083

Genomic Location (Zv9):

Chromosome 2 (position 26810473)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	27006669
GRCz11	2	26662303

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGTATATCTGGCCTTAATTTGCATGCAGCCAAAGCAAAGGACTTGCGCTA[T/G]AATCTTTCAGAGGTATTACAAGGTATGACATCTAAACTGGTGGTTATAAT

Long Flanking Sequence:

AAATTTTGTATTCTGTCAGATAGTGGCCTTGAATTGAAATGAAAAATAGTACATTAGTAGCAAAAGTGTAATGTTGCTGTCAAATGCATGGTTTGATTCTAAGCACGTGTTTCTAGAGGGCTTTCCTCTGCTGCGTTGATTTTATGGTGTTAAATTAATTGGTACTTAACTTTTTGTTTATTTCTACCTGACATTGTGCATTTTGTCCTTCAGAGGCTAAGCCACAGCAGGCACACAAGAATGGGAAGAAGGCAGAGGTTGGAGGAGGAACCTCTTTCTTCACCTGGTTCATGGTTTTGGCTCTGCTGGGTGTCTGGACCTCTGTAGCTGTGGTGTATTTTGACCTTGTTGACTATCAAGGGGTAATCGGTGAGTTTTGGTTTTGTGTTTTCAAACTTGGTGTATATCTTTTAAAAATACTCTTACATAAATGTGGTGTGTAATTGTTTTTGTATATCTGGCCTTAATTTGCATGCAGCCAAAGCAAAGGACTTGCGCTA[T/G]AATCTTTCAGAGGTATTACAAGGTATGACATCTAAACTGGTGGTTATAATCAGTCACTACTCTAAACCTCATTTCATTGATTGAACCTTTCATCTTCCATTAAATGTAGGGAAATAAAGTAACGCTTAGTTTCTTTTTTGTTTTTGCTGTCAATTCCTCCCCTACTGTGTGTATAAAGTGTATATTTGTATTATCATACACTTCTGATAAAACGTTTGGGGTTCGCATTAAAAAGTTAGTTCACCCAAAAATGAAAATGAACTCATTTATTCTCCCTCATGTGGAGACCTTTGAGTTTTTTGGCAGCACTTTAGTTTAGGTCAAAATTGACAGTATTATAAAAACTAGGGCTGGGCGAGTTGGCCTGAAATCGAAATCTCAATTAATTAAACATTTTAACTCGATTACAATTAATGAACGATTATTTTATTTATTTATTTTTTTGTCATCATAGTTCACTGATACGTTTTTTGACAGTAAATATGCTCACATATTACAAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa32929

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099208	Nonsense	352	472	7	10
ENSDART00000121670	Nonsense	352	443	7	7
ENSDART00000133202	None	None	183	None	5

The following transcripts of ENSDARG00000055945 do not overlap with this mutation:

ENSDART00000133083

Genomic Location (Zv9):

Chromosome 2 (position 26825468)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	27021664
GRCz11	2	26677298

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTGATGAAGTTGAGGAAAATTTACCAGTAGAAGAACCAGTGGAGGATCTT[G/T]AACCGGTAGAAGAACCAGTGGAGGAAACTGAACAAGTAGAAGAAGCATTT

Long Flanking Sequence:

AAGAAGACCTAGAAGTTCCTGAGGAGGAACCTGAAGTTATCGAGGAAGAGCCAGAGCTCCCAGTTGAGAAACAGACTTTTGAGGAAGCAGTGGAAGAACTTGCAACTGAAGAAGAGGTCGTAGCAGTTGAAGAAGCAGTAGAGGAAGTAGCTCCTGTGGAAGAAGCAATAGAGGAAGAGGCTGCTCCGGTGGAAGAAGCTGCTGAGGAAGAGGCTGCACCAGTGGAAGAGCCAGTAGAAGTGTTTGAAGAAGTTGTACCAGTGGAAGAAGCAGTTGAGTTGGAGGAAGAGGCTGCCCCAGAAGAAAAAGAATCTGTGGAGGAAGCTGCACCGGTGGAGGAAGCTTTACCAGCAGAAGAAACTGCACCAGTAGAAGAAGCAGTTGAGGTTGAAGAAGAAGCTGTAGAGGAGGTTGTAGAAGCAGAAGAAGCTGTTGAGGAGCTTGAATCGGTTGATGAAGTTGAGGAAAATTTACCAGTAGAAGAACCAGTGGAGGATCTT[G/T]AACCGGTAGAAGAACCAGTGGAGGAAACTGAACAAGTAGAAGAAGCATTTGAGGAACCTGAACAGGCAGAGGAACCAGTAGAAGAAATAGTAGAAATACCTGAAGAGGAAACCGAGGAGTCAGTCCCTACAGAAGAAACTGTAACGAAAGAGGATGTTACAGAGGAAGTGGATGAGCCTGTTCAGGAAGAAGAGGAAGAACAAGACTTTACAGAGGAGGAAGCAGAGGAGGAAGTTGAGGTTGAGGCAGAAAATATAGAAGAAGAGGGTAAGTTTGACAGGATAATTATAATTTGGATTTAATATTGCTCGTTAATATAAAACATTACACAATTTATAGAATAAACTCTGAACAGATGAATGTTTTTTTTGGTTTGTTGTCAAATTTTCTGTCTTGTTACAGAATATGAAGCTGCAGAGGAAGAGCAGAATGAGGAGGACATTCCAGGTTGGTCATTTAATTTGTTTCTATGAAGCATATAAAGAGTGGGAAGACTTGCT

Associated Phenotype:

Not determined