Busch Lab

ZMP

hmgcra

Ensembl ID:
ENSDARG00000052734
ZFIN ID:
ZDB-GENE-040401-2
Description:
3-hydroxy-3-methylglutaryl-Coenzyme A reductase a [Source:RefSeq peptide;Acc:NP_001073446]
Human Orthologue:
HMGCR
Human Description:
3-hydroxy-3-methylglutaryl-CoA reductase [Source:HGNC Symbol;Acc:5006]
Mouse Orthologue:
Hmgcr
Mouse Description:
3-hydroxy-3-methylglutaryl-Coenzyme A reductase Gene [Source:MGI Symbol;Acc:MGI:96159]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa33709 Nonsense Mutation detected in F1 DNA Not yet available
sa40555 Nonsense Mutation detected in F1 DNA Not yet available
sa33708 Nonsense Mutation detected in F1 DNA Not yet available
sa16920 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa33709
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
ENSDART00000097460 Nonsense 189 884 7 20
Genomic Location (Zv9):
Chromosome 5 (position 52674375)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 50341571
GRCz11 5 50988164
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCACCAACATTAAACAAATAGTGAATTTTATTTTCTTGCAGGTGTGCGA[C/T]AGCTCGAGATCATGTGCTGCTTTGGTTGCATGTCTGTCTTGGCCAACTAC
Long Flanking Sequence:
AGGGAGGTGTCGCGGACATAACTGAGAAGTGAAGACGAGGGTGGTAAGGGGGGTGTTGCGGACGCCGCCCTCTCTATACTGCCGCCCCAGGCGGCCGCCTAGGTTGCCTCTATGGACGCGCCCGCCCTGCCTATAACTCTTCAGATTTGGAGGCCAATAGGTGATACATTAGTTGATAAATATAAATAGAAATATTTTCACATTTTTCAGCATGGTTGCAAATCAAAGCACTAGCACATACATTGAACAACATAGTTTTTAAAAATATCTTTTATCGGCTGATATCGATATGGTCACCGATATATTGCTTCCTATATCTAACATTAGCCTAAAAATGACAGGAATGAATGTCAACACATAAAGACTGTCTATGTTTAGACATCTATTAGGCATCTGTTAAACACCAAACTGCTTGGGGGGAAATGAGACAGAAAACCAGCACAGATGGAATTCACCAACATTAAACAAATAGTGAATTTTATTTTCTTGCAGGTGTGCGA[C/T]AGCTCGAGATCATGTGCTGCTTTGGTTGCATGTCTGTCTTGGCCAACTACTTTGTATTTATGACCTTCTTCCCGGCCTGTGTTTCTCTTGTATTGGAGGTATGTGGAATATTTGAGTGTTAATACTCTACTAATGTAGGAAGACTTACAGTACATACTCTAATGCATATTTACTTCACATAGTTGTCTAGAGAGAGCAGAGAAGGCAGACCCATTTGGCAGCTAAGTCACTTTGCTAGAGTATTAGAGGAAGAAGAGGACAACAAGCCTAACCCTGTCACACAGAGAGTCAAAATGATCATGGTGAGCATTGAACAAAAACTTTGCAGTATCTTGAGGTGTGGGTTTATGATATTGATGGTGTGTCTCTTTAATTATAATTGCAGTCTCTGGGCTTGGTAATGGTTCATGCTCATAGTCGGTGGATTGCAGATCCTGCATCAAGTGATGGAACTCTTGATCTTCCTGAAGTTGGAATGAGCCTGAATGAAAATCTGCCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40555
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097460 Nonsense 364 884 10 20
Genomic Location (Zv9):
Chromosome 5 (position 52671620)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 50338816
GRCz11 5 50985409
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTCTGTCCCTTAAAGTGCCCACTCCAAGCTCCATGCTCACTCAGAAAT[G/A]GTCTCCGGATCAATGCTGCAGGAAAGAAATCCCCTATTCCACCAAGCTTG
Long Flanking Sequence:
CCACGTTCCTGGATAACCACCAGCTCTGCACATTTTCATGTCTCCTTAACCAAACATACCTGATTCAGATGATCAGCTCTTCAGCAGAGACTAAAAGACCTGTAATTGGTGTAACAGACATAGCAAACATGCAGTGCTGGTGGGCCTTCAGGAACGTGGTTGGGAAACACAGGTTTAGTGAATGGTAAATCACAGCAAAGTTAGTCTAAATGTCAGAGTTGGAGAAATCAGCATGTGCAATTGAAGAATGATTAGCAGATAATCAATATGGTATTGATACATTGCATTTTAATAATAATAGCAATAAGAAGAGCATGAAATAATTATTATTTCCTTTTCTTTTTTTGCATTCAGGATGATCAGCATGGACATTGAGCAGGTCATCACTCTGGGTCTCGCCCTCTTCCTGGCTGTGAAGTACATTTTCTTTGAGCAGGTGGAGATGGAGTCCACTCTGTCCCTTAAAGTGCCCACTCCAAGCTCCATGCTCACTCAGAAAT[G/A]GTCTCCGGATCAATGCTGCAGGAAAGAAATCCCCTATTCCACCAAGCTTGACAAACCCCCAACTCCCCCTCCAGTTGTTACCAAAGAAGAAAGAGGTATTTCCTTCTTACGTTTAAATTAAATTTTCTTACGTTTTCGTTCTCTAACAGAGTCTAACTGCAAATCATCTCCTTTAGATTTAGTGATTCGACCCCTGCCTGCACCGAAAGAACCTGAGCAAAAAAGCACTTTTGTTCTGGGAGAGGATGAAACTCAGGAAAACACTCATGTGCCGGAGCCTGTGATGAGTTTACCTGCTGAACCGAGACCTGTGGAAGACTGTCTGTCCATTCTGAAAAACCCAGATGTAAGATCTTTTACAAATATCCATTTCTACAGCTATACAATATTTGTTTATTTCAAATAAGAAGTTGCAATTGCAATTTGGGGAAAACATTAAACAAATCACTTAAATCTGTAAACCCAAAATTATATGGTTATTTTGCTCGCGCACATTGTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33708
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
ENSDART00000097460 Nonsense 684 884 16 20
Genomic Location (Zv9):
Chromosome 5 (position 52664894)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 50332090
GRCz11 5 50978683
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGAGGAATTTCCAGAGCTCCAGGTTTTGGCTGTTAGTGGAAATTACTG[T/A]ACTGACAAAAAACCTGCCGCCATCAACTGGATTGAGGGAAGGGGCAAGTC
Long Flanking Sequence:
CTAGTATCTGACATGTCCTGCCCCCTTCACATTTGATTTGACACTTTCATGGGTATTGGCTGTTTTTTTAAGGGGGAGTGGTTACACCATGTTCCAGCCCCTTTTTTATGTTTCAATTGAGATTACACCAAACACTGAATAAAAATTCACATTTTTAAGCACTTCACAAGAGCTTTAAATTTCCATTTTTGTGTACATTTATTTAACTTTATATTTGCGTTTTTTTTGTGTAGGTTTGCACGATTAGAGAAGCTTCTGATTGGCCTGGCAAGTCGCAACTTGTATATTCGCTTTCAGTCCAGAACAGGAGACGCAATGGGAATGAACATGATCTCAAAGGTATGCCGAATTGTATTTTTCCACTATTTAAATACAAAGCGTTGTGAAACCCCGTCACTCATTTCTTTTCTCTGCGTTCACCAGGGCACAGAACAAGCTCTCGCCAGACTGAAGGAGGAATTTCCAGAGCTCCAGGTTTTGGCTGTTAGTGGAAATTACTG[T/A]ACTGACAAAAAACCTGCCGCCATCAACTGGATTGAGGGAAGGGGCAAGTCAGTGGTGTGTGAGACCACCATTCCAGCCAAAGTGGTTAAAGAGGTACACAGCTTCATTCAAATCTGCAAAACTTACTGCTGACAAAACTGTAATATACAGTGGGTGACACTTCAAAAGGACCATTACCGCCATCTGTGCTGCTGCTGTGGCAGTAAAGGATTAAGAATGAGTTTTTAGGTGTAACAGCATTTTGCGACTGCGCAAAGGGACGGGATGTGAAAAGACAGAACTATACAGTAGCTGTAAACACCCTGCTTCTTGTAAATGAAGCATTATGATTCCTTCATTAATCTGCATTGCATTTACTTGTTTAAGGAGTTACACTATTGAGGTTTTAGGCTTTTTGGCCCATCATAAAGTTTTTTTTATTATAATATAAAGAAAACATCTCAAATTAAGTTTTAATGTTTTTTTTCACACATTATTTATTTGTTTTTGTAGATTCCAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16920
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
ENSDART00000097460 Nonsense 810 884 18 20
Genomic Location (Zv9):
Chromosome 5 (position 52662460)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 50329656
GRCz11 5 50976249
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCCCTCCATTGAGCTGGGCACTGTGGGTGGAGGCACYAACCTTCCTCCT[C/T]AACAGGCCTGTTTAAAGGTAYTTCCGCTGRATTTGGGATGATTAACTCNA
Long Flanking Sequence:
GATAAAGTTCATTTTGTACCCTATTCACCTAAAGTCTTTCCTTCAGTGCAATATAAATGTACATTTAAAAAAATATGAATCCACAAGTCTCACGCAACTGTTTCTGCTCAGATTTTAAAGACGTCGACTGAGGCTCTGGTGGACGTGAACATCAGCAAGAATTTGGTTGGATCTGCGATGGCTGGAAGCATCGGTGGTTATAACGCTCACGCCGCCAACATCGTAGCTGCTATCTATATTGCTTGTGGACAGGTAATGAAATCGATGTTATTTACAGTATGAGTTTGATAAGGAATATGATATCTGATTATAGATTTACAGTAGATGCAGATGTTTACATATGAAATTGTCCCTGACAGGACCCGGCGCAGACAGTGGGCAGCTCTAACTGTATCACTTTAATGGAGGCTTCAGGAGCTACAGGGGAGGATCTGTATATCAGCTGCACTATGCCCTCCATTGAGCTGGGCACTGTGGGTGGAGGCACTAACCTTCCTCCT[C/T]AACAGGCCTGTTTAAAGGTATTTCCGCTGGATTTGGGATGATTAACTCTACCCAAAAATTAAATCCTGTCATTAATTACCCTCAAATCATTAAAATTCTCTGACACCTTAATTAAACTTTGAGGAAGTTAGATGTTTTAGATGAAATCAGAGAGCTCTCTCATCCTCCATTGACAGCAATGGTCCCGAAATGTTCAGAAAAGGAACCAAAAACACTGCATTGGACTTGAGTGGTGCCAATGTAATCATATGAGCTCTATGAAGACTTTTGTGTGCCAAAATAAACTGAAAAACTGTTGCCTTTGACTTCCATATCAGGTCAGATTAGACTCTAATGGTAATATGTCATACTGGCTGTAGTTAACGCACACTCTGACCTAATGTGGGAATGAAGATTAGCAAACAAAGTCATGTTTACAGAAGTATTTTGGAGCTTTGTATGATTTTAGTTCCACCTCTGAAATCATATGAAATGCTTTGACAATGTTTTTGGTTCCTTAA
Associated Phenotype:
Not determined