Busch Lab

ZMP

heatr5a

Ensembl ID:
ENSDARG00000023999
ZFIN ID:
ZDB-GENE-030616-152
Description:
HEAT repeat-containing protein 5A [Source:UniProtKB/Swiss-Prot;Acc:Q8JFV4]
Human Orthologue:
HEATR5A
Human Description:
HEAT repeat containing 5A [Source:HGNC Symbol;Acc:20276]
Mouse Orthologue:
Heatr5a
Mouse Description:
HEAT repeat containing 5A Gene [Source:MGI Symbol;Acc:MGI:2444133]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa39164 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa6480 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa14816 Nonsense Available for shipment Available now
sa16625 Nonsense Available for shipment Available now
sa14010 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa39164
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032975 Essential Splice Site 566 1998 11 36
ENSDART00000109693 None None 111 None 4
ENSDART00000122260 Essential Splice Site 566 2040 10 36
ENSDART00000143607 Essential Splice Site 564 1991 10 35
Genomic Location (Zv9):
Chromosome 17 (position 28697142)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 28621069
GRCz11 17 28638032
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCGCACTCAAGGAGGCTGGTTGCTGCTCAGTGCCCTCTCAACACTAGG[T/C]ATGAGTTTGTGTGCTAGGGGTGGAACAGTGCTCTGGGAAAAAAAAAAAAA
Long Flanking Sequence:
CATTGAGAAATTAAAACTAAATTAGTTAAGTTTATTGCATCTCATAAAAAATTAACCCTTAAAGGCAAATTTTATCCCTCCACAAACTTAAATTCCTTTATTTTATAGTTGACTTTATTAAAAATATTTTGGACCATTGTGGTAAAAAAAATATTTAGCTGACCGTTTTTCTTATCAGTCACACATAAGTAGTGAATTATGAAAATGTTTTTAGTTTTTTTTTTTTTTTTTGGACTGATCTATCTCTCTCCTTGGAATTCAAAAGAAAAAAAAAACAATGCACCAGTCACTTTGGGCACATGTAAATGTTGTTAGCATCATTCCAGGCATATTTCACATACATAATCAAAACTGATGCATCACTGCTTCCTCTTGGACTGGTTTCAGATGGTGATGACTTTGGCTGAAGATCTGCTGAGATCTGCAGCTCAGAACAGCAGAATCTCCATTCAGCGCACTCAAGGAGGCTGGTTGCTGCTCAGTGCCCTCTCAACACTAGG[T/C]ATGAGTTTGTGTGCTAGGGGTGGAACAGTGCTCTGGGAAAAAAAAAAAAACAATCCGTTCTGTTATCCTGCTCTCTGACTGTAATATGTTTATATCCCGCACTATTGATGCTTGTTAGCTGCCACGCTCTTTCATGTCTGTGCCTTTAGTCGCTTAATCACTGCAGTTGAAGCAGGTTGTTATGGTGTGTTCTGGCCCAGTGGCATCTGTTCTGTCACATCACGGTTTAACTTTGTTCCTTTATTCAGAGTTTACAGTAACTGTTTAACTCTAAATGTTGCAAACTCATATGACTCAAGTTTTATCATTCTAAAGATCTGTGTTTCTGTCTTTCTCTCTCAGCTACATTTTTTATTACAATTAATCAATAACATAGGACAAAAACAACAAAAGGCAAAATTGTGTGAGTAAGATGGAAATAAAAACTCTAATGCTAAAATTGGATTTAAGAATGATGACATTTACATTGCAATAGGTATTTGTTTGTGTGTGCAGTGTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6480
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032975 None None 1998 None 36
ENSDART00000109693 None None 111 None 4
ENSDART00000122260 Essential Splice Site 796 2040 15 36
ENSDART00000143607 None None 1991 None 35
Genomic Location (Zv9):
Chromosome 17 (position 28699814)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 28623741
GRCz11 17 28640704
KASP Assay ID:
554-5099.1 (used for ordering genotyping assays)
KASP Sequence:
CTGTCCAGCTGTTTGGAGTGATTTTTCCCCACCTGAKTGTCCAGCAGAGG[T/C]ATTTCCTTCATYAGCACAGTGAGATCTGTTTAAAAGTTTAGTTGACACAW
Long Flanking Sequence:
CCAAATATGTATGTATTTGTTTATTGTGTTTTGATTGTGTTGGCTCAGAGAGTTTTGGCACAGTTCTAAAGCAGCTGCTGAATGATCTGACCGGGCCAGAAATCACAGCATGTGCTGAGCGGAACCTGCTGCCCTCCCTGTGCTACAGCCAAGACCTTGCTCTGCTGGGTCCCGGACTGCAGGATATGGATCAGCGCTATATAGAAGAGCAGGTCAGGCAGCAGTCTAATCATCAGGAAAATAGCCTTGTTAATGTGTAGTCAGTGTCATTGATCCATGTCCTATTCAGTACGACTTTCGTATTTAATCTCACTGTATTTTCTGTCTGTGTGAAGCTGCATGGAGGTGGTTCAGGAGGTGGGACACTAGAATATGACTCATTTACCATCTTTGAGAAATCTCAGGAGGTTCCTACTCCGCTCCCTCCAGCCTCAGCTCTAACAGTGGCTGCTGTCCAGCTGTTTGGAGTGATTTTTCCCCACCTGAGTGTCCAGCAGAGG[T/C]ATTTCCTTCATCAGCACAGTGAGATCTGTTTAAAAGTTTAGTTGACACAAAATTGAAGTTTTGGTCATTAATTTCTAACTAACTAAGCTTTCATTAATCTCCACTGTCGAAAATAAGATATATTGCATGAAATCCAAGAGATCCTTCATCCTCCATAGGCCACAATGGTCCTGACTCGTGCGGAAGAAACAGCTAAATAAAGTCGCGTTTTTAGTTTTATGTGTTTACAAAAATATTCTCGTAACTTGATAACATTTCAATTATACCACTGCAGGCTTGTGGTCTGTTTTGAGGTTGTTTTTTGGACTTTGAGCATGTAAGGTCAGTTGCTTTCTATAGAGAAGTTTTCAGATTTCACCACAAATGCCATGATCTGTTTTTCAAAGCCCAACATAGGACTCAGAGGTTTGGAATAACATAATGATGTGTAATTAATTGCACAATATTAATTTTTAGGTGAACTAATCCTAGTGTGGTGTGGTTATTTATTTGTATGATGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14816
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
ENSDART00000032975 Nonsense 1248 1998 25 36
ENSDART00000109693 None None 111 None 4
ENSDART00000122260 Nonsense 1290 2040 25 36
ENSDART00000143607 Nonsense 1241 1991 24 35
Genomic Location (Zv9):
Chromosome 17 (position 28714339)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 28638266
GRCz11 17 28655229
KASP Assay ID:
2261-1158.1 (used for ordering genotyping assays)
KASP Sequence:
ATCTGATCCGCATGGCDTTCATGGCATCCACAGACCACAGTGACCAGCTC[C/T]GACTGGCTGGTTTGCAAACGCTTCTGGTCATTATTCGTAAATTCTCCAAT
Long Flanking Sequence:
TTTATTTATTTATTTATTTTTTTATAATTTTTTAGACTCCGCTGCAGCCGCCTCTGTAGAAACCCAGCAAGAGGAGGATGGAGATCGATATGATGACTCCTCTGCATTCCATGCAAAATCTGAGTCCAGCGGGCCCTTCAATAACCTGCGCTGGTCCACTCGTGTGTTTTCTATGGAGTGTGTGTGTCGCATAATAGCACAGTGTGAGAACAGAGACTCAGCTCACTTTAACATGGCACTTGCTCAAGAGCAGCGTTTACATGAGTCCACAGGTTAGACCATTCATAGTTTTCTTCTCTATTACTCTATATTCTGTGATATCTTTTCTGATGTGTTTAATGAATCACAGGATCTTAGCGCCACCTTTTGGGGTGATGTATATATTTTTGTTAAGACAGTTAATACTGGCAACCCGTTGTTTGGCAGATTTCCTGGTTCTTCACTTGGCGGATCTGATCCGCATGGCGTTCATGGCATCCACAGACCACAGTGACCAGCTC[C/T]GACTGGCTGGTTTGCAAACGCTTCTGGTCATTATTCGTAAATTCTCCAATGTACCAGAGCCTGAGTTCCCTGGGCATGTCATTCTGGAGCAGTATCAAGCCAATGTGAGTCTTAAAGTCATCTTTATAAGCGCAAAGTAGTGATGAAAGTGAAAAACAATGATAAACTTTGATTGAGGAATGTCCTAAATATTATTAAACTTCATAGCAAAGGATCAGACTCTAACATATTAGCAAGACATAAGGTGATAAGATTCCAGTGTCAAAAGTAATTTGGTTGTCCACATCTAATGCGACACAACAGAATAATTTAAATATCACAGAAATTTAGGAGGTTAGAATAGATGTAACAACCTTTCCCAACAAAATTGACAGGTTTAATAAATATTAAACCTCATCAATGTTATTAAAAGCATACAGTATGCTGAGTGACTGATGTTGGTTTGCACAATTTGAATGTTCATACTTAAATTGTATGTTTGCTAGTTTTTTTTTTATTCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16625
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
ENSDART00000032975 Nonsense 1541 1998 30 36
ENSDART00000109693 None None 111 None 4
ENSDART00000122260 Nonsense 1583 2040 30 36
ENSDART00000143607 Nonsense 1534 1991 29 35
ENSDART00000032975 Nonsense 1541 1998 30 36
ENSDART00000109693 None None 111 None 4
ENSDART00000122260 Nonsense 1583 2040 30 36
ENSDART00000143607 Nonsense 1534 1991 29 35
Genomic Location (Zv9):
Chromosome 17 (position 28719768)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 28643695
GRCz11 17 28660658
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTTTGTGCTCTCCTCATTCTGGAGACCAAATGGAAAACATTCATTCATG[T/A]CTTCAGGCTCTGCAGGCCTTATTGGAGGTGCCTTGGCCTCGSWCAAAAGT
Long Flanking Sequence:
GTGTGTTTGTGTATTAAGTGCATATGCTGTCCTTGGCTGGTTGGCATTATCTCTTCACATGTCTTGGATCTGATGGGCATCTCCAGGTGGAAATAGAGAGCAAAGAAAATAATTAATGTATATTTGATATTTACATATTTTTGATATGTAAATATAAAATGCACACATACTTATTTTGCAATGTCAGATTGAAAAAGCTCATTTACTATAGACCCTTTCCTCAAAGAAATCAAGAAGGGGATCGAAAATGGTCTAAAGAGTCTGATACTACACATGTTGTAAATGGGAATGTGTATCACTCATCTTTATCATCTATAATAGACCAAAATATTATGTTAATTCTGGGTGTAAATAGGCCTTGATTCTTAATTATGTGAATTATGTTATATTTATTCTTCTTTATTGTTGTTTTTGTTTACTTTATTTCTCCTGTCAGGGATCAGTGTGGAGTTTTTGTGCTCTCCTCATTCTGGAGACCAAATGGAAAACATTCATTCATG[T/A]CTTCAGGCTCTGCAGGCCTTATTGGAGGTGCCTTGGCCTCGCTCAAAAGTGGGCAATGATCAGGTATTCTACAGTGTAAAGCAAGCTATTACTGTAATTTGTGTATGCTATGATTAAAATCAGGGGTCAGTTGCATAAACACATCCACCATGCTAAGATATTCTACTAGGACTAGTTTGTCCAAATAGCAGGTAGCCAAGTGATCTGGCTTTTTGAACTCAGACTAGAGTTGTCAGCATTTTTTTACATATGAGTTTAAAAAATTGTGGCTAATCCTGAAGAAAAATGTTTGGCGACTAACTTTTTAAAACCAGCCTAACCAGTTTATGCTACTGGCCACAGATGTGTTTTTATGTTAATGAAAGGGTTTTTAGACTATTAAAATGAAATTTGATCAAAAGTGATTGCAACAATGTTTAGAGTAATACTTAAAAATATAAAAATTAAATAATTATCAATTATAAATAGCGTAATAATATAAATAATAATATAATAGATAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14010
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
ENSDART00000032975 Nonsense 1541 1998 30 36
ENSDART00000109693 None None 111 None 4
ENSDART00000122260 Nonsense 1583 2040 30 36
ENSDART00000143607 Nonsense 1534 1991 29 35
ENSDART00000032975 Nonsense 1541 1998 30 36
ENSDART00000109693 None None 111 None 4
ENSDART00000122260 Nonsense 1583 2040 30 36
ENSDART00000143607 Nonsense 1534 1991 29 35
Genomic Location (Zv9):
Chromosome 17 (position 28719768)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 28643695
GRCz11 17 28660658
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTTTGTGCTCTCCTCATTCTGGAGACCAAATGGAAAACATTCATTCATG[T/A]CTTCAGGCTCTGCAGGCCTTATTGGAGGTGCCTTGGCCTCGCWCAAAAGT
Long Flanking Sequence:
GTGTGTTTGTGTATTAAGTGCATATGCTGTCCTTGGCTGGTTGGCATTATCTCTTCACATGTCTTGGATCTGATGGGCATCTCCAGGTGGAAATAGAGAGCAAAGAAAATAATTAATGTATATTTGATATTTACATATTTTTGATATGTAAATATAAAATGCACACATACTTATTTTGCAATGTCAGATTGAAAAAGCTCATTTACTATAGACCCTTTCCTCAAAGAAATCAAGAAGGGGATCGAAAATGGTCTAAAGAGTCTGATACTACACATGTTGTAAATGGGAATGTGTATCACTCATCTTTATCATCTATAATAGACCAAAATATTATGTTAATTCTGGGTGTAAATAGGCCTTGATTCTTAATTATGTGAATTATGTTATATTTATTCTTCTTTATTGTTGTTTTTGTTTACTTTATTTCTCCTGTCAGGGATCAGTGTGGAGTTTTTGTGCTCTCCTCATTCTGGAGACCAAATGGAAAACATTCATTCATG[T/A]CTTCAGGCTCTGCAGGCCTTATTGGAGGTGCCTTGGCCTCGCTCAAAAGTGGGCAATGATCAGGTATTCTACAGTGTAAAGCAAGCTATTACTGTAATTTGTGTATGCTATGATTAAAATCAGGGGTCAGTTGCATAAACACATCCACCATGCTAAGATATTCTACTAGGACTAGTTTGTCCAAATAGCAGGTAGCCAAGTGATCTGGCTTTTTGAACTCAGACTAGAGTTGTCAGCATTTTTTTACATATGAGTTTAAAAAATTGTGGCTAATCCTGAAGAAAAATGTTTGGCGACTAACTTTTTAAAACCAGCCTAACCAGTTTATGCTACTGGCCACAGATGTGTTTTTATGTTAATGAAAGGGTTTTTAGACTATTAAAATGAAATTTGATCAAAAGTGATTGCAACAATGTTTAGAGTAATACTTAAAAATATAAAAATTAAATAATTATCAATTATAAATAGCGTAATAATATAAATAATAATATAATAGATAA
Associated Phenotype:
Not determined