Busch Lab

ZMP

si:dkey-260j18.3

Ensembl ID:
ENSDARG00000034058
ZFIN ID:
ZDB-GENE-041010-4
Description:
Novel protein similar to procollagen-proline, 2-oxoglutarate 4-dioxygenase (Proline 4-hydroxylase),
Human Orthologue:
P4HA3
Human Description:
prolyl 4-hydroxylase, alpha polypeptide III [Source:HGNC Symbol;Acc:30135]
Mouse Orthologue:
P4ha3
Mouse Description:
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III Gen

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa35816 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa35817 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35816
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043434 Essential Splice Site 233 538 4 13
ENSDART00000147233 Essential Splice Site 287 592 4 13
ENSDART00000148284 None None 230 None 4
Genomic Location (Zv9):
Chromosome 15 (position 13459517)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 14802194
GRCz11 15 14738151
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGCACGCTTGAAGATGCCCTGGACCATTTGGCTTTCTCTCATTTCAAG[G/A]TATGTCACTAATTACAAAACAAATATGATTTTAACCGAGACCCTGTGTTA
Long Flanking Sequence:
AAGTCCAAACTTCTGCACCATGACCGAAACTTCTGCATCCTCACCTGAGTACAGCGAAACAGATTGTTTAGATGGGCTTATATAAATGGCTTGCTTGGTTGTTATAGGCTGATAAGATAATTATTATGTATGACTATTACTATAGTAATGTATTGTAGTATTATAAATGACATAGTAGGTAGGAACACATCAAATAACCAGTGACAATTGTTTGGACTGAAATGTGTAAAACAAAATAAAGTTAAAAAAAGAGCACATGCTGGATGTCATCATCTATTTTCAGCTTTATTTTTCAGTTTCCATGTCATTTTGTGTGTGTGTGTTGTGCTACATCTTCAACAGCTTTATGCTTGTAGGTGGCCTATGATTTGGAAGATTACTACCATTCTGTGCTGTGGTTTGAGGAGGCCGTTCGACTCTTCCGAGGAACCGAATGGAGTCCAGAAAATGAAGGCACGCTTGAAGATGCCCTGGACCATTTGGCTTTCTCTCATTTCAAG[G/A]TATGTCACTAATTACAAAACAAATATGATTTTAACCGAGACCCTGTGTTAACATCTGCTGTTGATAAGGTCTCTTTTGGGTGATCTAAACTAAGGTGTAAATTGGCACAAAATGTTGGTATTGTTTTTGTTTTTTTGTTTTTTTGTTAAATCTCATTTGGTAGTAATCAGAAATGCATGCGGTTGAGTTTTATAATTGTTGCCAGTATATTGATGTGTTCCAGAGAGCAGTGGAAAAATCTACCCATTCAGCCACTGCAGACCAACAAAACAACACAATTTGTGAGCAGATTAAAAGTTATTTAGTATTTAGATTTTTTGTATTTTTTTAAAGCTATCTTTAAAAAAAAATCAATAGAGTGGAGGGATTGGGCAAAAAAAGACTAATCAATGGTTCACACATGATTTACTTACAATATGGGGTTTTAAACTTGTATTTCATGACGTGTAGTATCAGCTCTTTTTCAATCATACCACAGGCAAAAATTAGACTTAGACTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35817
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
ENSDART00000043434 Nonsense 299 538 6 13
ENSDART00000147233 Nonsense 353 592 6 13
ENSDART00000148284 None None 230 None 4
Genomic Location (Zv9):
Chromosome 15 (position 13481167)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 14780544
GRCz11 15 14716501
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGCCCGACGGCATTTATTTGAGAACCAGGAATGCCTATGAACAGCTCTG[C/A]CAAACCAAAGGATCTCAGGTACCATTTCACTTTTATATTTGTTGTACCTT
Long Flanking Sequence:
AAGACTGATCACGCAAGATTTGAACACATGGTGCAAATGGGGCAAAATATTTTTTTACTGATGTATTTTGAAATACAGTGAACATTTTAGACTTGTTGAGTAACATTTCTAGGTTTTGTTTTGTTTTTGTTTTTTAGACAGGAAACATATCCCACGCCCTCAGTCTCTCCCGGGAACTATTGCTTCATGGTAATCTTCTGCAGTCTTCTAACAGACACTAGCAATAAGTGACATAGTGAGAAACAAAATAAAACAAATCCATTTATTTTACTTGTTTCAAAACTTCATTTGTAAAATTAAATAATCTGGGAGATTTTTCAAAAATTAAAAATCACAAAGTAATGTTGTTTTCAAGATCCCATGAACAGAAGGGTACACTTCAATGTGGAGAAGTACGAGAAACTCCTAAATGAAAATCTACCTGCTACTAGCAGTGGTTTGACTTTGAAAAGGCCCGACGGCATTTATTTGAGAACCAGGAATGCCTATGAACAGCTCTG[C/A]CAAACCAAAGGATCTCAGGTACCATTTCACTTTTATATTTGTTGTACCTTATGATTCAGGGCAAGATGATTTATTTCACATTTATCATGAATTGTTCTATTCAATACCATATGTTAAAAATGTTAAACTGCCCGGCTCTAGACAGTCTGCAACATAATCAAGAATCCACGCCACCAATCGAATAATTCAGAAAAGGAAGAATTATTAAAGTAATTAAAGTAACAAGGTCACATAAATAATCTTTTAAACGAAGAAAAATGCTGGTGCTGGAGGAGACCGATCAGGCACCCTAAATCAAGGCAACAACACAAGCTTCTCTCGATAGAACAAATGAGGAATCCTTTTATCATGCGTTTATAACTGGCAACGCAGCACAACTGTAATCCACTTCAACCTGCCCACATAATGGAACAATTGACCACAAAACAATAGTGCCATATAGTAAACATCCCATCACCAGCAAAAGAAACGCAAAAACAAACCAGTAACAAAAATATTTG
Associated Phenotype:
Not determined