Busch Lab

ZMP

LOC571772

Ensembl ID:
ENSDARG00000059116
Human Orthologue:
HEATR5B
Human Description:
HEAT repeat containing 5B [Source:HGNC Symbol;Acc:29273]
Mouse Orthologue:
Heatr5b
Mouse Description:
HEAT repeat containing 5B Gene [Source:MGI Symbol;Acc:MGI:2444098]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa15239 Nonsense Available for shipment Available now
sa12245 Nonsense Available for shipment Available now
sa8993 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa15239
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
ENSDART00000082127 Nonsense 202 1606 5 30
Genomic Location (Zv9):
Chromosome 13 (position 347044)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 345027
GRCz11 13 475318
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTGTTTGTGTGTGTGTGTGTGTGTNNNNNNNNNNTTYCGCAGTGTTTGT[T/A]GGARCTGCAGAACGAGGCTGTGTTCATCTGGACCACTGAGCTGGAGAATG
Long Flanking Sequence:
CGGTGGATCAGTGGTGTCGCACTGTGGCCTCACAGCAACAAGGTCACTGGTTCAAGTCCTGGCTGGAATAGTTGGTGTTTCAGTGTGGAGTTTGCATGTTCTCCCAGTGTTGATGTCTAAACATTATATTATGCGCATTATTAATCTGTTTTACATCATGTCATTAGATATACATGCATTCCCTTTAATGTTCACCCATCTATTGTACACACACACACACACACACACACACACACACACACATACATACATATTTATATACAATCATTATATTACATGTTCTTATAGCATTTTAGTATTTGTGATTTTTTTTAAAAGCACTCTAATGGTTTGAGTAAACATTATTATTATATTTTATATTATTATTATTATTTTGAAGTGGTCATGATATTAATATAGTGCATGTTAATTATGAGCACATTCAGTGTCATCATATTGGTGGTGTTGATAGTTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCGCAGTGTTTGT[T/A]GGAGCTGCAGAACGAGGCTGTGTTCATCTGGACCACTGAGCTGGAGAATGTGGCCACGCTGTGCTTTAAAGCTCTGGAAGGATCCACGTATGATGTGCGAGTTGCTGTTTCCACACTGCTGGGAACTGTCATGGCCACAGCGCTGATGCCCAAACAGGCCACCGGTGAGACACACACACTCATACGCACACAAAAATGCCTTTACTTAGAGTTTGTCTGTTGTTTCTACTCCAAATATCTAAGAATTCTTAAATCAAGAAGCATTTAATAGACCAGTGCAAAGCATTCTCTTGCTTTCAGAAATAATGAGTCAAAAGTAAATGAGTTCCTCATGAATTTTAAAACGAGATTATTTCGCTTACATCTTTGACAGATAATATTCAAAAATACATTTTTGTTGTTTATGGATAATTTATTTATTATCCATAATATTGATATCTCAACAAATTCTGCTGCATATTATCCTATTGTCAGCTCATTAATGTCCTTATTTCATATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12245
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
ENSDART00000082127 Nonsense 386 1606 7 30
Genomic Location (Zv9):
Chromosome 13 (position 345114)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 343097
GRCz11 13 473388
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAAAGCTCAGATCGCAGCCGCAAAGGAGATCTGCCTGGCCATCAGCAAA[C/T]AGATGAGAGCCGTGGGTAAGAYGRACTACATTACCCACAATCCCTCACTG
Long Flanking Sequence:
CCCTCTTCTGAAAAGAGCTCAATCTCATTTGCATTTAAAGCGACAGTCACCAAACACCACAGTTAAGGATCAAATACTGAAAGGGTCAGTTTCAGAGAGCTGGAGGACATGATCTGTGTCTATTCTCAGCTCAAACTCACACACACACACACACTAGAGAGACAGCAGAGACGCATTTACAGCTTGTAGAAAGAGGTGTAATAGGTTTTTCATCGATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCTCTCTCCTGTAGGCGTATGTAGTGTTTGTGACAGTTCTGGGTGGGCAGTGGCTGGAGCGTAACTTCGCAGTGTTTCTGTCTCATCTGCTGGAGCTGGTGGCTCACCCTCGCGCCACACAGACGCACGTGGAGGCAGTGTATTCCCGCCGCTGCGTCTCCTTCGCTCTAAGGGCGACTCTGGGCGGCCTGCTGGGAGAGAAAGCTCAGATCGCAGCCGCAAAGGAGATCTGCCTGGCCATCAGCAAA[C/T]AGATGAGAGCCGTGGGTAAGATGGACTACATTACCCACAATCCCTCACTGCTCTCGCTCTGAGCTGCTGCACTATTCTCTGACACTCCTCACTGTAATGAAGGCGCTCTTAATTTAGAGTTTCTATCTCGTTTCTAGTCCAAACATCAAATAAAGGTGTCTAAAATACCTCTCTGTGTGTGTGTGTGTGTGTGTGTTTGCAAACATGTGCAGGTTTGTGTGTGTCCTGACTGTGATGTAGAGTGTTTCCAGAGTGTGTAATGGCAGTGTTGTTGTGTGTGACAGAGGCAGTAGTGAATGAGCAGAGCAGTGAGAACCGCACCGGTGCCGCAGACGTGTCGGCCAGTCAGCATGTGATGGTGTGTGCACTGAAGGAGCTGGGCAGACTGGTGCAGAGCCTGAGCGCCACCGCCTCACCACTCATACAGGAGCCGTCTATAGGTGACACACACACACACACACACACACACACACACACCACTGGTTTATCATGGCAGTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8993
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082127 Nonsense 810 1606 16 30
Genomic Location (Zv9):
Chromosome 13 (position 339240)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 337223
GRCz11 13 467514
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTTCTGTGTGCTGTGTCCTCCAGGTTGCAGATGCTGGATCACTTCGCT[G/T]AATGYATTAAGCAGGCTAAAGGCGTGCGGCAGCAGGCGGTGCAGCTCAAC
Long Flanking Sequence:
CATCAAAAGTGCCTTCAGAGGCCTTTTAATACAACAAACGGGTGTGTTTGATTACTGTTGCAGCTGAAGTCTGCAGACCCTTCTGGACCGACTTTGGCCACCCCTGATTTTATAACCCTTTTCAGGGATAATTCATGCACAAATGAACATTTGCAAACTGTTTGCTCTTCTTCAAGGGTTTTCTTTCTGAACACAAAATGAGATATTTAGAAAAATGTTAGAAACTTGTGTACATTGTAGGAAAAGCAAATACTGTAGGCGTTAGATGTTACAGCACTCTTCAAATTGAAGACTGTAGACTTGAAGACATTTTATATTAATGTTAAGCACCTTGGGTCTGAGAGTAACGCAATTTCGATTCTCTGTATGTCTTGTACATGTGGCTGAATTGACAATAAAGCTGACTTTGACTTTGACTTTGTATTTGAGATCATTGTCTGTGGTTTATGTGTGTTCTGTGTGCTGTGTCCTCCAGGTTGCAGATGCTGGATCACTTCGCT[G/T]AATGCATTAAGCAGGCTAAAGGCGTGCGGCAGCAGGCGGTGCAGCTCAACATCTTCACTGCGGTGCTGAGCGCGCTCAAGGTCTACATCTGTGCTTCATAACCCTGTACTGGAGCTGTTGAGTCTCTAATAATGATTAGGGGTTTAATAATACATTGCAAAAAAGAAAATTCCTAGATGCATATTGCTGATGTAAATATGATATGATACATTTATTGAGCTTGTTTTTATCCAAGAGTCTGCTTACGGTATTTATAAGGTGTAATTCACACAAACATGTTTATTTTTTTCCATACTAGACTGCATAATGACTTTTCATGGCCACAAAATAACATGTGAGCTGACACAGCCATGTTTGTTTACCACAGAGAAAATGCTAGAGATTTTAATAACAAATAACTAAATTGTTAAAATGTTTAGTATGTTGCACAGTGATCATTTTGCTTCATAAATATATACCAGGTGTATAATCAGGAGCCAAATTTGATCATTATATTCCAA
Associated Phenotype:
Not determined