Busch Lab

ZMP

elp3

Ensembl ID:
ENSDARG00000042005
ZFIN ID:
ZDB-GENE-050327-35
Description:
Elongator complex protein 3 [Source:UniProtKB/Swiss-Prot;Acc:Q5RIC0]
Human Orthologue:
ELP3
Human Description:
elongation protein 3 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:20696]
Mouse Orthologue:
Elp3
Mouse Description:
elongation protein 3 homolog (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:1921445]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa9618 Essential Splice Site Available for shipment Available now
sa29409 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9618
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061557 Essential Splice Site 8 548 None 15
ENSDART00000138226 Essential Splice Site None 528 None 15
Genomic Location (Zv9):
Chromosome 20 (position 34696155)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34768668
GRCz11 20 34671547
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGGAGTGTTTGTAGATTKTGTMWAAGATGGGAAAGCCAAAAAAGAAGAG[T/A]AAGTATTATTTGCTCATTTTTANCATGGCGTATTCTGTTACGTTGCTGCTG
Long Flanking Sequence:
TTGATTTGGTTGTGTCATTATAACAATGTGTGCTTGTATATATCCCAATAAAATGTTTGTATGTTTACAAATATTAATTTTCAATTTAATAAATATTTTATAATCAAAATGTGTATTTTTTTAATTAATATACTTTTTGTTGTTTTTAATTATTTAATTTTATATGTATTATTTTATTTCTTTGGTTTATACAATGATTTTTTTATGAATGTTCTCACTATTCTTGAATGTCTCTACTATACACCTCATCTGAACACTAGAGGTGCTCAAGTATGTACTTCAGATCTGTGGTAAAGTGCTTGACAACTTTACGACAACAGTGCAGTGTTCCTTTACGACACACGTTTTCGTTTTACGGAAGAGTGTAGCATGTTAACAGATGTTGACAATATTATCTGCGAGTTCATGAAGTAAATAACTGCGCGTTTTAGTCTTTATCTGGTACGAGAGCTGGAGTGTTTGTAGATTGTGTCTAAGATGGGAAAGCCAAAAAAGAAGAG[T/A]AAGTATTATTTGCTCATTTTTACATGGCGTATTCTGTTACGTTGCTGCTGAAAGCATGTTGTAAAAACTAATCTTCCATCATATATTAACAGCTTTGTGTTTGATTTAATATTTAGGAGAATGTTACGTTATATAGTTACGATAAAAACTTGCTGATCTGGCAATGTTCGTCAATATTAAAATAACAGCTTGACAAAAAGTTGGAGGGATTAAATGCACATGTTTGCTTACTAAATGTACTTTTCTTATGGGTATGTTTTGTTGACGAGATATAAATGCAGAACTACCATGATTTTATTATAGTAAAACTGTAGTAAGCAGCCATGTGGTTATTGTGTAGCAAAGCCTTATTGGTTATTGTGATTTTTGGTTAGCCTACCATGAGATTACCAAACCTCAGTAGCCATGATTTTTTGGTTTATTTGCAGTAAAATTCTGGTTAGTTATCATCAACGTATAATAATGCTTGCTATTTTACTCCAAATAAGCAAGCCAAATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29409
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061557 Nonsense 367 548 10 15
ENSDART00000138226 Nonsense 352 528 10 15
Genomic Location (Zv9):
Chromosome 20 (position 34718904)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34791417
GRCz11 20 34694296
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAGCAAGAATACTAGCGCTGGTTCCACCATGGACTCGTGTGTATCGTGTA[C/T]AGAGGTAAGATGAATGTAATGATGCTGTTACTGCACATACAACCTCTCAT
Long Flanking Sequence:
TGACCAGAGATCAGATGTGACTGCAAAGTGGCGGCAGAAGTGGAAATTAGCCACAGTCTTTTAACAGAGTAGGCTCACGTGATTCCACACACGGTAGGGAAAGTAATTGAAAAAATCGTCCTAGAAGAATTCGATTATAGGTTCTGAAAGTCGACTTTGATTACCTTTCAATTACTTGCTCAGCCCTAGTGTTGCCTACAAATTTAGTGTTGAATGTGGATAAGAAAATAATATAATCATTATCGGTCATAGTTGGCTCTAAGTCTCATGTTTGCGCTGCTTTTTCAAACGTCATTTGTCTCTGTCTGCAGGAGTTTTTTGAGAACCCTGCCTTCAGGCCAGACGGGCTCAAGCTTTACCCTACACTGGTGATACGAGGCACTGGACTGTATGAGCTGTGGAAAACAGGCCGTTATAAGAGCTACTCTCCCAGTGCCTTGGTGGACTTGGTAGCAAGAATACTAGCGCTGGTTCCACCATGGACTCGTGTGTATCGTGTA[C/T]AGAGGTAAGATGAATGTAATGATGCTGTTACTGCACATACAACCTCTCATTGTATGCTCACAGATGAGTTTAGACCTACGTTTTTCTTGATCCAATCTCAAGTGGACCTGAAATGGGCTCTGAAGTGTTTTGAACTTGTCCACTTTCAGAGGTAGTCAAAAACACAACTGACTTTATTGATTTCACAGTATAGATGCTCAGGTAATAGAGAGTGTTCAATCAGCCACAAAACACTGTCCCATTCTTTGCCCACTGACTTTGACATCATGAACTTTAAGGAATGAATGTAGTGTTGAAGTGATGTAGCCAGACAAAATTTTAATGTGATTCCTTCATTTGTTAGTTTTAATTGGGGTTGGAACTAAAATATGCAAAACACCGGCCCTCCAGGACCGATTTTGGGCACCCATGTCCTAAACTCTGGGACCCGGTACTGGGTCCATGACATCATTTACTTCTGCATTCTTTAAATTTTAAAGGTCCGTACTGGCCCAATACTT
Associated Phenotype:
Not determined