Busch Lab

ZMP

si:dkey-266h18.3

Ensembl ID:
ENSDARG00000060202
ZFIN ID:
ZDB-GENE-091204-164
Human Orthologue:
HERC1
Human Description:
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
Mouse Orthologue:
Herc1
Mouse Description:
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1

Alleles

There are 14 alleles of this gene:

Allele Name Consequence Status Availability
sa23857 Nonsense Available for shipment Available now
sa37237 Essential Splice Site Available for shipment Available now
sa12041 Nonsense Available for shipment Available now
sa14127 Nonsense Available for shipment Available now
sa32335 Essential Splice Site Available for shipment Available now
sa11095 Essential Splice Site Available for shipment Available now
sa15596 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa23857
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084553 Nonsense 1305 3080 20 46
ENSDART00000133320 None None 290 None 1
ENSDART00000145425 None None 195 None 3
Genomic Location (Zv9):
Chromosome 21 (position 8244063)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 9960006
GRCz11 21 10052487
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGAAATATATCAGGTGGTGTATAAAATCCGCAACACGCTGATGGCCTAT[A/T]AAGAGAGCATAGGAAACACAACCAGTGCCCAAGCACCATCTTCCACCAAA
Long Flanking Sequence:
AGAAATAGGGGCTTCTGCTGTAATTGTCAGTAAAAGACTGTACAGAAATCACACACACGCAGTGAAATTGTGCACAGTTGGCACCAGAAGTGTTGTAAATACCCGCGCTCAACTCCCTCGCGACAGAGCGCATATGAGGGAAATGACGTCAGTACATTACAACCGGTTATGATTATTATTTAACCGATACCGAATTGTCTGTGATTAATTGAAACAATTAATTTTGACACCCCTATTAAAGAGTCATATTCTGTTGGTTTTCGCTGTAGGGTGTGAAATCTCACATGATAAATGCCTCGGCCAGAATGACTCATTTGTTAGAGTGCTAGTTTAGTGAATTGACAGTCATGTTTGTGGATGAACTTTGAGGGCCGAATTGATAGTTTAAAAGTCTGTTCTAAATGTTTTTGTGTGTGTTTGGCTGCAGATATGAGCCCTGCGAGGTGCTGATTGAAATATATCAGGTGGTGTATAAAATCCGCAACACGCTGATGGCCTAT[A/T]AAGAGAGCATAGGAAACACAACCAGTGCCCAAGCACCATCTTCCACCAAACAGGTAAAAAAACAACAACATCAAAACAGTCACAGTTGAATTATATATACAGTGCTTTCTGATATTACTAATAAAATTAACAAGAATGTCAGAATTATTGTTGACCAGTGTATATTTGTCTTGTTAAATACAGTTAAAGTCAAAAGTATTAGCCCTCTTGTGAATTTAGCTTTCTTTTTTTAAATATTTCCCAAATTATGCTTAACAGAGCAAGCATTTTTTTTCACAGTATTTCCTATAATATTGTTTCTTCTGCAGAAAGTCTTATTTGCCTTATTGTGGCTAGAATAAAAGCAGTTTATTTTTTTTAAAAACCATTTAAGGTCAATATTATTAGCCCCCAAAAGTAATGTTCTGTTTTTCGATAGTCTATGGAACAAACCACCATTATACAATAGCTGTGTCCCAAATCGCATTCTTATGAACTATTCTATGCCATTTTGTAGTATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37237
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084553 Essential Splice Site 1662 3080 26 46
ENSDART00000133320 None None 290 None 1
ENSDART00000145425 None None 195 None 3
Genomic Location (Zv9):
Chromosome 21 (position 8230222)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 9973847
GRCz11 21 10066328
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAATTACCGGCAGTTTAGCAGCTCCTAACAACAAAATTCATCATTACACC[G/A]TGAGACATACAAATGATGATGGTTGCTTGAACACAAACGACATAAATGTA
Long Flanking Sequence:
TAAGAGTCAAGCTTTAACATCTTTTTTTTGTTGAGAAAGATGGTAATGGTCTGATGAGATTCAATAATCAATGCTAAGCTAAGCTAAGCTAAAATGGTTCTTGCCAGACCCAGAGATCACTTCAATAAATAAAAAAAAAAAAGGTAAAACTGAACTCTAGGGATCTTGTGAAATTAGCTTATTACAAAATTGTTCCTTTAAATTAAATGGGTCTTAAATTTGACTTTGTAAAACAGAAAATCTGTATTTATTTATTAATTAAAAACCATTTAAAGTGCATAAGAATTAAACCTTATTTTCAGGTTCGCTTGGAGGCCTTGTGTCAGATTTCCTCGTTCCTGTCAGAAATGGAGGAAAAGAGTGTTAGCTCTCTAGCGCCTCCACGTTTTCCAGGCCTCCTGCAATCGGTGCAGCTGCAGTTCCTCTCAGGCTGCTTTGGCCTGGGAGCCCCAATTACCGGCAGTTTAGCAGCTCCTAACAACAAAATTCATCATTACACC[G/A]TGAGACATACAAATGATGATGGTTGCTTGAACACAAACGACATAAATGTAATAGTTTAGGGTGATACAGGTTTTCATATTGAAGTAATGTGTTTGTGTGCAGGCTGGGACTCAGTCGGCTCCTATCAGTGTTCAGAGAGAGCTACAGTGTGCAGCTCATATGCTCTATCAGCAGCTGGTGCGTGTGCTCAGGCAGAAGGTGGCTCTAGAGAGAGAGCAGGCAGGTGGGTAATGCTTCTCAGTCTATATATATAAATAATATTTGACTAGATATTTTTCAAGACACTTCTATACAGCTTAAAGTGACATTTAAAGGCTTAACTAGGTTAATTAGGTTAACTAGGCAGGTTAGGGTAGTTAGGCAAGTTTTTGTATAATGATGTTTTGTTCTGTAGACTATCTAAAAAAATATATAGCTAAGGGGCTAATAATTTTGACCTTAAAATATATATATTTTTTAATTAAAAGCTGCTTTTATTTAAGCTGAAATTAAACAAATAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12041
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
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084553 Nonsense 1684 3080 27 46
ENSDART00000133320 None None 290 None 1
ENSDART00000145425 None None 195 None 3
Genomic Location (Zv9):
Chromosome 21 (position 8230054)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 9974015
GRCz11 21 10066496
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCCTATCAGTGTTCAGAGAGAGCTACAGTGTGCAGCTCATATGCTYTA[T/A]CAGCAGCTGGTGCGTGTGCTCAGGCAGAAGGTGGCTCTAGAGAGAGAGCA
Long Flanking Sequence:
TGAAATTAGCTTATTACAAAATTGTTCCTTTAAATTAAATGGGTCTTAAATTTGACTTTGTAAAACAGAAAATCTGTATTTATTTATTAATTAAAAACCATTTAAAGTGCATAAGAATTAAACCTTATTTTCAGGTTCGCTTGGAGGCCTTGTGTCAGATTTCCTCGTTCCTGTCAGAAATGGAGGAAAAGAGTGTTAGCTCTCTAGCGCCTCCACGTTTTCCAGGCCTCCTGCAATCGGTGCAGCTGCAGTTCCTCTCAGGCTGCTTTGGCCTGGGAGCCCCAATTACCGGCAGTTTAGCAGCTCCTAACAACAAAATTCATCATTACACCGTGAGACATACAAATGATGATGGTTGCTTGAACACAAACGACATAAATGTAATAGTTTAGGGTGATACAGGTTTTCATATTGAAGTAATGTGTTTGTGTGCAGGCTGGGACTCAGTCGGCTCCTATCAGTGTTCAGAGAGAGCTACAGTGTGCAGCTCATATGCTCTA[T/A]CAGCAGCTGGTGCGTGTGCTCAGGCAGAAGGTGGCTCTAGAGAGAGAGCAGGCAGGTGGGTAATGCTTCTCAGTCTATATATATAAATAATATTTGACTAGATATTTTTCAAGACACTTCTATACAGCTTAAAGTGACATTTAAAGGCTTAACTAGGTTAATTAGGTTAACTAGGCAGGTTAGGGTAGTTAGGCAAGTTTTTGTATAATGATGTTTTGTTCTGTAGACTATCTAAAAAAATATATAGCTAAGGGGCTAATAATTTTGACCTTAAAATATATATATTTTTTAATTAAAAGCTGCTTTTATTTAAGCTGAAATTAAACAAATAAGACTTTTTTCCAGAAGAAAAAATATAATTAGACATACTGTGGAAATTTCCTTGCTCTGTTAAATATCATTCGGGAAATATTTTATAAAGATAAAATAATTAAAAGTTGGGCTTTATTTATTTATTTATTTATTTATTTATTTATTTATATTTAAATAATATCAAATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14127
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084553 Nonsense 1731 3080 28 46
ENSDART00000133320 None None 290 None 1
ENSDART00000145425 None None 195 None 3
Genomic Location (Zv9):
Chromosome 21 (position 8228494)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 9975575
GRCz11 21 10068056
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCTGAATTTCCACTATCAGCCGGTGGATCTGGTGGTGATTATTAAATG[T/A]GGCRTCCTGGAGATCTTGTCCACGCTGACTGATAACACCTGTGTGCTGGT
Long Flanking Sequence:
GCAGCAATAATAATAATAATAATAAATAATGCACAATTAATTTATTAGCTTGTATTATGGTTTAATTTCTCATTGCAATATCATTTGTTTAAAGGTTTTCCATTTATTTAAAGACCATATAGGGTGTTAAAACTGTTTTTGCTGTTAAAAAGGTTTTGCTTGGTTGACACAATATCTAAAATATGTATCTAAGAAATAACTGTGGTTTAATTTTATTTATTTCATTATTTATTTTTTGATGGTGCAAGTAAAAATCTGGACCAACTTGGGCATTAGAAACAATATATTAGTGTCCTGTATAAGTCTGAAATTTCAATCATACTGGTCTTAAAAAGTCTTACATTTGACTTGGTGAAAACTGCAGAAACCCTGTTTTAATTAAATAGTGATTTCCCATATGTCTGTGTCTTTTTAGGTTCTTATCAGCATCTGCTGTTGGCCACAGTCTTTGCTCTGAATTTCCACTATCAGCCGGTGGATCTGGTGGTGATTATTAAATG[T/A]GGCGTCCTGGAGATCTTGTCCACGCTGACTGATAACACCTGTGTGCTGGTGAACCAGCGCTGGCTCGCAGCCTCCATGTCCGGACACATGCAGCTCGGTGGAGCCGTCAAACTGGCCGCTGCCAGACTCCTGCAGATCTTCGCCATTGCCGCCAGGTTAAATTGATTGAATACAGAATGAGAGAACGCCTCATGTGATGTGCTCTGAAAACCATACAGATTATAAACTGCTAGATAATCATGTTTCTTTATGCTAACACATGCGAAACAACAAGAATCCAGCAACAAGCACTTTGGCTGTCTTCACAAAAAAACACACACACACTCCTATTGTATTTTTTTTTCTTTTATGGACGTCAACGCGTCAATTTTTTGTTTTAATTAACAAAAAAATAAATAAACTCATGGTTTTGGAACCTCTTGAGTGTAAGTAAATAGTGAGTAATATACAGTTGAAGCCAGAATTATTAGCCCCCCTGAATTATTAGATAGCTTATTTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32335
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084553 Essential Splice Site 2093 3080 33 46
ENSDART00000133320 None None 290 None 1
ENSDART00000145425 None None 195 None 3
Genomic Location (Zv9):
Chromosome 21 (position 8221447)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 9982622
GRCz11 21 10075103
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCATCCTGGACATGGAGGCTCGAACCATCTCCTTCGCCAAGAACAACAGG[G/A]TCAGTGTGTGTTTTTATGCATTCAATAACCATTTAACACATACCAGTATG
Long Flanking Sequence:
ATAAAACATGTTAACAAAGAGCTAAAAACATACAAGCAGTGTGTTAAATCATGCTAGAAACACACTAACTTTTTGATAAACTATATTATGCCTATACAGCCAATTATAACTATAATAGTGTGTTAAATCATTTTGAAAGCACGCTACTTGTGTGATAAAACCTGCAACACTATAAACTGTCATGAATTATCATAAACATTGAGGCCAGGCCTCTCAAAATTGGTCTAAAAATGTTACAATCTGTGTCTTTTGTACATTAGTTTTATATCACTAAGGAGAACAGAGGAAATGAGGGGACGTGTATCGGGGTGTCCCGATGGCCCATCCGAGACTACAACCATCGCACCACTACAGACATGTGGCTGTACAGGGCCTACAGCGGCAGCCTGTATCATGGAGGAGAACTGGGTCGAGCCCTGCCCTCCTTCACACAGGGCGACACCATCACCTGCATCCTGGACATGGAGGCTCGAACCATCTCCTTCGCCAAGAACAACAGG[G/A]TCAGTGTGTGTTTTTATGCATTCAATAACCATTTAACACATACCAGTATGATTTACAAACTATCTTCAATTTACAGTATATTGATTATGATTAGTGACAAACAAAGTGGTGCTTGATTTAGAAACTAGTTCAATGACATGACATTGAAATTAAAAGATTGATTTACTGAACTACTGTATCATTTTAATTAACAATGCTGAAAATCTGTTATATACATATATACAGTATGTGAGCCGTAATGGGTAAATATATCAAGTGTTATACTGAAATATGATACACATCTGAATTTAAAAAATGTTATTAAATTTTTAAACTTAAGATTAAGAGAAATGTATTTATTTGTCCTATTTACATATATTTTTCTGACGTTTATGTAAATACATTAACTTTTTAAGAAATATGCATGACTGATCTACTGACTGATTATTAAAAAATATAAATTTAATTGATGTGAATTATATAACATTAATTATTTTTCATATTAATAAAATTACATTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11095
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084553 Essential Splice Site 2121 3080 34 46
ENSDART00000133320 None None 290 None 1
ENSDART00000145425 None None 195 None 3
Genomic Location (Zv9):
Chromosome 21 (position 8220002)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 9984067
GRCz11 21 10076548
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGAGCTYTACCCGTGTGTTCTCTTYTACAGCAGTAACCCAGGAGAAAAGG[T/G]CACCATACACTCCCACATTTACGTCATGCTATTTAAATGAAAAGTACACA
Long Flanking Sequence:
TTAAGCTTTATTACCACAGAAAATAGTGACTAGAAAAGTGTTAGGGCGTTTTAAAACATGCTTACAATGTGTTACGTTTTGCAAAAACAAAAAGTTAAAATATGTTGGCACTGTCCTAGAACATGCTATATCATGCTTCCAAAGTGTTACATTTAGTTAAAAACAAGTTAAAATATGTTAGCAGTATGTTCAACTATGTTAGTATTGTGTTAAATCTAGTTAAAACATATTAGCGTTTGTTAAATCATAATAAAAAAAGAAGTTGGCAATATATTAACCATTTTAGTGCAAGAAACAGTCATTAAAAACATAATGTGGAAAAAATACTAAACAGTAAAAAAAAAAAATAGAAATAAAACTCTTTGGAGCAAACTAGAGGTCTTGTGTAGTGATTTAACTGTGTTTTTGTTTACAGGAGCCCAAGTTGGCATTTGAAGGAGTGGATGCCACTGAGCTTTACCCGTGTGTTCTCTTTTACAGCAGTAACCCAGGAGAAAAGG[T/G]CACCATACACTCCCACATTTACGTCATGCTATTTAAATGAAAAGTACACACCATTAAAAATAAGTTTGTTAAAAATAAACAGTTCTACAAATCAACTATCATATATCGAACTGAAAAATCAGATCTAATGTTTTTAATTTAAAATCTTAATAATAGCCATATCTAGCTGTACAAATGACCTCTGGTTCCTCCTCTGGCCTTTAGGTGGCGCTATGTGACCTGCAGATGCGCGGGATGCCCAGTGATCTTCTGCCAGGAGAGCCGCTGTGCAGCCCAAGGGCCACAGTTCTGCTGGAGTCCACCATTCAGCTGCTCAGAAGACTGTATGTGAACGATGACTGGCTTCAGCATATAAACCAGCACATGCTAAATAAACTACAGCTCATCAACCCGCTCATGAGGGACGGACACAGCAAAATGGGTCAGTTAACTCTTCTACTTAATTTATTTATTTGCATTATGTGATCAGATTCATCTTTTAATGGATATATAATAAGGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15596
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084553 Nonsense 2887 3080 44 46
ENSDART00000133320 None None 290 None 1
ENSDART00000145425 None None 195 None 3
Genomic Location (Zv9):
Chromosome 21 (position 8196353)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 10007716
GRCz11 21 10100197
KASP Assay ID:
2261-5246.1 (used for ordering genotyping assays)
KASP Sequence:
TTSTSTCAGGGAAGAGAAGAGCACCCAGAGCCACATGAGATGGTGGAGTG[T/A]GAGCTGTGTAACACACTCACCCTGCAGTTCAACAACCACAYGAAGCGCCA
Long Flanking Sequence:
CTCAAACATGCTCTCATTCATTCATTCATTCATTCATTCATTTTATTTATTTATTTATTCATTCATTCATTCATTCATTCATTCACAGATTTATTCACTCATTCCCTCATTTATTCATTAATTTAAAAAATGCTCCAAATGATTAGTTCAGTTTCACTCTCTATTTGATGATCATTTCCCCCCTTTATTCACTCATTCCCTCATTTATTCATTAATTTAAAAAATGCTCCAAATGATTAGTTCAGTTTCACTCTCTATTTGATGATCATTTCCCCCCTTCATTTTATCATTTGTTTATCAGCCTATTATTTATTGTTGTATACAGTATTTCTATCATTATTCTCTGTTCTTAAATTTTTTAAGCATTTTTAATTTCTTTATTTTCTATATATGCAGATTTGCTTTGTATTTTTTTCAATATCACATTATTGAGTAAACATGCATCTGTCTTTGTCTCAGGGAAGAGAAGAGCACCCAGAGCCACATGAGATGGTGGAGTG[T/A]GAGCTGTGTAACACACTCACCCTGCAGTTCAACAACCACATGAAGCGCCATCACCCAGGCTGTGGTCAGAGCGCCGGCCGCAGGGGTTACCGCAGCAACGGGGCCTATGTGGACGGCTGGTTCGGCGGTGAATGTGGATCCGGCAGCCCATACTACCTCCTGTGCAGTACATGCAGGGAAAAGTATCTGGCCTTAAACATGGGAGTTATGAGCTCCAAACAGGACAGGTGAGAGTGAATGATTTTTTTGTGCTACTTTTGCTATTTAACAACCTATATATGAAGAGTTATTAGTTACTCATAATTTATAATTATGAAATGACAAATTTTCACCAATCATGTTTTTTATTGATCACATGAGTTCATTTCAAAATAATAATAATAAAAAAACTTTTTTACTTATTCTATTTTTTAAAATCTTTTTCAGGGCAAAAGGTTTGGTGTCTGATCTGATTGGTCAATTGGACAGTACATCAGAAGGTATATTGTACCGGTGAATAA
Associated Phenotype:
Not determined