Busch Lab

ZMP

ell

Ensembl ID:
ENSDARG00000000568
ZFIN ID:
ZDB-GENE-030131-3946
Description:
elongation factor RNA polymerase II [Source:RefSeq peptide;Acc:NP_956001]
Human Orthologue:
ELL
Human Description:
elongation factor RNA polymerase II [Source:HGNC Symbol;Acc:23114]
Mouse Orthologue:
Ell
Mouse Description:
elongation factor RNA polymerase II Gene [Source:MGI Symbol;Acc:MGI:109377]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa11958 Essential Splice Site Available for shipment Available now
sa16550 Essential Splice Site Available for shipment Available now
sa12948 Nonsense Available for shipment Available now
sa43827 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa11958
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032770 Essential Splice Site 45 597 1 11
ENSDART00000100642 Essential Splice Site 72 660 1 12
Genomic Location (Zv9):
Chromosome 22 (position 21244726)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 20899402
GRCz11 22 20924380
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCTGACAGACAGCGCTCTGCGGGCGTTTRAGGACTACCAGAGCAACAAG[G/A]TAAGACGCGCGTCGAGCGCAACGCGAGGCTGGATAAAYAGAGCTAACAGG
Long Flanking Sequence:
CACTGCCACGTTTTGAAATCCTCCCAGTATCCTAAAATAAATATAATAAAGCAAGGAAAATACTTTTTTTTCATTCCTTTTTACAAAACACTTATAAATGCATAGTAATACGTACTATTAAAGGACTTTAAGCGCATGTAATATCACTGACCAGGTAAAAGAACAGGTGAATCATTTTTGAACCGCTCGAAAGAACCGAGTCGCCGGGCTCCCCATCACTGGTCATCTCTCTCGTGATTACTGCGAGGCCACGCCCCTTCCCGCCTGTACGTAATTCACGCCGGATGAATATTCATACTCTCCGCTCGAGCTGCTTGTTGCGTTCACGGCAGAGGCGCGTGAGCGTGGTGGGAAATGCGAGCAAGATGGCGGCGTTGAAGGAGGAGCAGTGTTACGGACTGTCCTGTGGAAGAGTGAGCAATGGCAGCAAAATCTCCGTCTATCACGTCAAGCTGACAGACAGCGCTCTGCGGGCGTTTGAGGACTACCAGAGCAACAAG[G/A]TAAGACGCGCGTCGAGCGCAACGCGAGGCTGGATAAACAGAGCTAACAGGCTAACAGTGAACAGCAGGCGACAGTTATTTCCCTGCCTGACAGCAAATCACCCACTCAGCTCAACACATTCCCCTTAAAACGAGCAGGAACTTCGGTGTGGCGACCCAGTCCCTGCCCTTTGCTGTTGGTGGCTTCCTTATCAAGCACTTCTTGCGCCAATGAAGCCGTTAATTGAGCCCACAGCAGGTGATAAAAGAAAATAAGTTGTTAGATGTGTGTTGGTCTGGTGGCAGACTGTCTAGTTTGGTTTAAAGCACTTGGCTGCCAGGTTGGTGGAAAAACTGGAAGTGTGTGGGGAATATTTGGTTTTATTTCCCACCTTTATTTTAGACCCAGGAAGTCTTGGAAATTACGGATTATAAAGTTTTAATCATTTAAATTATAGGTTTACATATTTCTGGTTATGCTGGATTCACAACGGGGGGCCCTCAGCAAACTTGTTAATGGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16550
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032770 Essential Splice Site 101 597 3 11
ENSDART00000100642 Essential Splice Site 128 660 3 12
Genomic Location (Zv9):
Chromosome 22 (position 21197280)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 20851956
GRCz11 22 20876934
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAGACAATCCCCAGGGCAGCTTCGACTGCATTCAGCAGTACATTACAAG[G/A]TAAGAACAAAATTAAAYGTATMTTTYATTGTAGTGCTGTGATTWGTGATG
Long Flanking Sequence:
TTATTTTTATTTATCACCTTTTGATTTATTCATAATCTTTTTTTCCTTTTTTGTATTTTTTAGCTGTTCCTAATTGCATTTTATTATATATTTATTAATTCATTTATTAAGTCAAATTGTTTTTCTTATATTTGGTTTAGCATTTATTTAGATATTTTGATTTATTTAAAAAAAATGTTTTTATATTTCTGTAAAAGTGATACATTGAATCTTTTCTACCTAAATGAATGAATGAATAAACCTGATGAATCCATCTAATCTACCTAAAAGAACAAGTAAATCTGTGTGATCTCTCCTGCTGTAGCCGTCTGCTTTTAACATGCCTCTCGTCTCCCTCTCAGTGCTTATGTTGGCTGCTCTTCTCTTCTGTGTCAACAGAAAATCTCGATACCGCAGTCAGAGAATCCAAATGAGCTGCGAACGTTTACCTTCTACCTGTCCAATGTGGGCAAAGACAATCCCCAGGGCAGCTTCGACTGCATTCAGCAGTACATTACAAG[G/A]TAAGAACAAAATTAAACGTATCTTTCATTGTAGTGCTGTGATTTGTGATGAGCAGGAGCTTTTGTGTTAAGGAAATATTGCCATGAAAACAGTTGATTTGAGTTTGTCTAATGTTAAAACTGGTTGTGCTTGCATTCGTGGCATCATTACGAGCACCATCTGTTCCTTCCACTGTTCAGCTCTGGAGCAACACCAGAACACAGAGAATCAGTTCAGTTTGGTCAGTTCTCCAACCAAATGAGGAAGAATGCAAATCCATTCTTGATATATCTGCAGGCAGAAACAGCTTTTCATGCTCCTCTGAGATTTTGAGGCTTTGTGGCTTTTCATAACGTGTTTTTCACTATAATAAGAAAACTTTCAAAATATTCAATACAAAATACTTTAATTGTTTATTGCTTTTTAAATAATTTTCCACTTTAGCAGCTCTGCATACAGAAAACTGCAGTTTTATTCTTATCTGTTTTTACTGAGGGCTTTGTTCATTTATAATTTGTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12948
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032770 Nonsense 318 597 8 11
ENSDART00000100642 Nonsense 345 660 8 12
Genomic Location (Zv9):
Chromosome 22 (position 21176548)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 20831224
GRCz11 22 20856202
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAAAGTTGTGTAATATTTGACTTCAGTTGAACACCCACAACCCCCAGAAA[C/T]GACCTGCAGCCGACTTCATCGATCCCCTGGCCAATAAGAAACCCAGAATA
Long Flanking Sequence:
GAATTTCTGTTTTTCTCTTTTTGGAAGAATAATGGAGGAACAAACTAACACATGCATGATTGAATGTAGCATGTTGTTTTTAATGGACCCTTTTCACAACACTGTTGTGACTCGTTTAATCCGAAATATTGATTGTTTTTTTTATATTTATGTACATTTATGTTTGTATTATATCATCTTTGCATCAAATTACCGCTTATGCGAAGTGTTTGATATGCAGAGTGTGTGGGCTGCCGTCTCGCACATTATTTTCCTTTTTTAAGGAAAGTCTTTACAAAGTTTTCACAAAGATCTGTTGTACTCTCCCATTCACTGCGTGCTAAATTTACCCAACTCTGACGACTTCCTCTACTGAGAAACCCAGAAATGTGAAAAGGGTCCATCTTCCCTCAAACTGCAACCAAGATGTTACATTTTCTCTTTTTCTTCCTCCAAGATCATGTACTGATATAAAGTTGTGTAATATTTGACTTCAGTTGAACACCCACAACCCCCAGAAA[C/T]GACCTGCAGCCGACTTCATCGATCCCCTGGCCAATAAGAAACCCAGAATATCGCATCTAGTCAGCAAGTCTACAGGACTCATCAATGGCAAGCTGAGCTCATCCAATGGAAAGGACACCTCTAGTTCTCAAGCAACTGAGACCTCGTCGAGCTCTCAGTTCCCTCCACTGGAGATCCCCCGACCCTTCGACCCCCTTTCAGATGTCAGCAACGACTCCAACGGCAGAGACTGTGAAGGTCAGGAGGCAGCGGTGGCAGAGAGACTAAGTCAGCCACCGTCATTCGCCCCTCGCTCCGCGACACAAGAGGAAAGGCAGACCTCCATGTCCCCACCCCACAGCAGTTTGGACAGCTCTCTGACCCAGACCACCCAACCCTCTCTGCACGGCAAGTCTAAGAAGAAGTCTAAAAAACACAAGGACAAAGATAAATCCAAAGACAAGGACAGGGATCGAGAGAGGGACGCGAAGAAGGAGAGGAGGGTTGATGAAGAGCGTGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43827
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032770 Nonsense 433 597 8 11
ENSDART00000100642 Nonsense 460 660 8 12
Genomic Location (Zv9):
Chromosome 22 (position 21176202)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 20830878
GRCz11 22 20855856
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCGACACAAGAGGAAAGGCAGACCTCCATGTCCCCACCCCACAGCAGTT[T/A]GGACAGCTCTCTGACCCAGACCACCCAACCCTCTCTGCACGGCAAGTCTA
Long Flanking Sequence:
CTCTACTGAGAAACCCAGAAATGTGAAAAGGGTCCATCTTCCCTCAAACTGCAACCAAGATGTTACATTTTCTCTTTTTCTTCCTCCAAGATCATGTACTGATATAAAGTTGTGTAATATTTGACTTCAGTTGAACACCCACAACCCCCAGAAACGACCTGCAGCCGACTTCATCGATCCCCTGGCCAATAAGAAACCCAGAATATCGCATCTAGTCAGCAAGTCTACAGGACTCATCAATGGCAAGCTGAGCTCATCCAATGGAAAGGACACCTCTAGTTCTCAAGCAACTGAGACCTCGTCGAGCTCTCAGTTCCCTCCACTGGAGATCCCCCGACCCTTCGACCCCCTTTCAGATGTCAGCAACGACTCCAACGGCAGAGACTGTGAAGGTCAGGAGGCAGCGGTGGCAGAGAGACTAAGTCAGCCACCGTCATTCGCCCCTCGCTCCGCGACACAAGAGGAAAGGCAGACCTCCATGTCCCCACCCCACAGCAGTT[T/A]GGACAGCTCTCTGACCCAGACCACCCAACCCTCTCTGCACGGCAAGTCTAAGAAGAAGTCTAAAAAACACAAGGACAAAGATAAATCCAAAGACAAGGACAGGGATCGAGAGAGGGACGCGAAGAAGGAGAGGAGGGTTGATGAAGAGCGTGGCTTGGATCAAAGGAAACCCTGTGATGTCACGACGAGCGATAAGAGTACAGGTGAGGATCGGTTTCTCTGAATCATTTATCATGTCAAGGTCAGAAAACACCTCAGAGTTCCACACAATCTTTTGAATCTAATATATTACTTTACTTGGTGGTGACGGTGGGGTATCTTAGGGTAGTGTTTCTCAACCATGTTCCTGGAGGACCACCAACATTGCATGTTTTGGATGTCTCCTTCGTCTGTTACACACATTACAGATCTTTCAATCTCTGCTAAGGAGTTGATGATCATAATCAGGTGTGTTTGCTTAAGAAGATGTGCTGCACCCCAATTCGCACACTATCCGTCCT
Associated Phenotype:
Not determined