Busch Lab

ZMP

acvr1b

Ensembl ID:
ENSDARG00000018968
ZFIN ID:
ZDB-GENE-980526-527
Description:
activin receptor type-1B [Source:RefSeq peptide;Acc:NP_571065]
Human Orthologue:
ACVR1B
Human Description:
activin A receptor, type IB [Source:HGNC Symbol;Acc:172]
Mouse Orthologue:
Acvr1b
Mouse Description:
activin A receptor, type 1B Gene [Source:MGI Symbol;Acc:MGI:1338944]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa12061 Nonsense Available for shipment Available now
sa12247 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12061
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
ENSDART00000023094 Nonsense 308 505 5 9
ENSDART00000023094 Nonsense 308 505 5 9

The following transcripts of ENSDARG00000018968 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 28046301)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 27879123
GRCz11 23 27805664
KASP Assay ID:
554-4621.1 (used for ordering genotyping assays)
KASP Sequence:
TGACTATCTCAACCACTACTCCGTCACAATCGAGGGGATGATCAAGTTAT[C/T]GCTTTCAGCCGCCAGCGGTCTGGCACATCTGCACATGGAGATCCTGGGCA
Long Flanking Sequence:
ATTTTATTCATAATGGTATTTTAAAAAGTCTTAAAGTCTTAAATTTGACTCGATGAAACCTGTAGAAACCCTGCTCTAGTCTGTCCTTGGCCAATCACATGCCCTCACATTAGTAGTGCTGTGTAAGCATTATTTAAATACATTTTACATAGATTTGGTGTTTTATGATATGGTGTAAAACATTTGAACGTGCATTGTTTTGTTTTTTTATCGTTTACCACGTATACGTAGATATTACAATAAAACATCAGGTCATGAAAATGTACTTAACTCATGGAATTTTAGTAGTAAAAAAATGTGTATGAACTGCTTTAAGTGATCAAACATTCAGAGTAATTTTGTTTCATTTTTTAATATCTTTTTGGTTTAAATATGTTTCTGTTTCTTAGACAATGGCACATGGACACAGCTGTGGCTAGTGTCAGACTACCATGAGCATGGCTCATTATTTGACTATCTCAACCACTACTCCGTCACAATCGAGGGGATGATCAAGTTAT[C/T]GCTTTCAGCCGCCAGCGGTCTGGCACATCTGCACATGGAGATCCTGGGCACACAGGGTGATTAACAAAATAATATTCTCCAGACTATAATAATTTACAATTTGTCAATTCCTGGACTCACTAAACCATTATGATCTCCTACAGGGAAACCAGGCATCGCACATCGTGACCTCAAATCCAAAAACATCTTGGTGAAAAAGAATGGTACTTGCGCCATAGCAGATCTAGGGCTCGCTGTACGGCACGAGTCTATCACTGATACTATAGACATTGCACCCAATCAGAGGGTGGGCACTAAAAGGTACATCTGGCCCTGTCATTATTAATACAAATGGCTGCTTGTCTTTAAATGTAACTATGAAAACTTTAATGTAAGTTGTTGCTTTTTCCCCTTTCTTAGATATATGGCCCCAGAGGTACTAGATGAAACGATCAACATGAAGCATTTTGATTCTTTCAAGTGTGCTGATATCTATGCTTTGGGACTGGTATATTGGGAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12247
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
ENSDART00000023094 Nonsense 415 505 7 9

The following transcripts of ENSDARG00000018968 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 28045795)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 27878617
GRCz11 23 27805158
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAAGTGTGCTGATAWCTATGCTTTGGGACTGGTATATTGGGAGATTRCA[C/T]GACGGTGTAATGCTGGAGGTGAGGAAAAATGAGACCCATCTTACACCCAC
Long Flanking Sequence:
CAGCCGCCAGCGGTCTGGCACATCTGCACATGGAGATCCTGGGCACACAGGGTGATTAACAAAATAATATTCTCCAGACTATAATAATTTACAATTTGTCAATTCCTGGACTCACTAAACCATTATGATCTCCTACAGGGAAACCAGGCATCGCACATCGTGACCTCAAATCCAAAAACATCTTGGTGAAAAAGAATGGTACTTGCGCCATAGCAGATCTAGGGCTCGCTGTACGGCACGAGTCTATCACTGATACTATAGACATTGCACCCAATCAGAGGGTGGGCACTAAAAGGTACATCTGGCCCTGTCATTATTAATACAAATGGCTGCTTGTCTTTAAATGTAACTATGAAAACTTTAATGTAAGTTGTTGCTTTTTCCCCTTTCTTAGATATATGGCCCCAGAGGTACTAGATGAAACGATCAACATGAAGCATTTTGATTCTTTCAAGTGTGCTGATATCTATGCTTTGGGACTGGTATATTGGGAGATTGCA[C/T]GACGGTGTAATGCTGGAGGTGAGGAAAAATGAGACCCATCTTACACCCACTGCATCTTAACAGATTAAGCCTGCAATTAATGTCAGTTTTTTCACAGGTTGCATAGAACTCCTATAATAGTGGTCTATCATTATGAGCTTCTCTTTAAGATTTTAAAATGAGTAGAGAGTACACTGCCTCTGTAAAATAAAAAAAATCTTTCTTTTGAATTTCTTTTTATTAAAGAACCTGTAAATTAAGTCCAAGGCATTTGAAAAATGTGGAAAAAATATTAAAAAGCCTTTATTGACATGGCTATTCCTTAAAACTGCCTACGCATCAACGTTACCCTGATGAAGGTAAGTGTTTGCCATGTCAATAAAGGCTTAATATTTTTTTTCACATTTTTCGAGTGTCTTGACCTGACTTTTGCTGTTTATTCTAATGAATCCCTTACCCAAAGTGCACTGATCTGTTGTTTAAGCTAGGACTGAGCACTTTGATTTTTAAATATGGAAAGT
Associated Phenotype:
Not determined