Busch Lab

ZMP

acvr1l

Ensembl ID:
ENSDARG00000014986
ZFIN ID:
ZDB-GENE-990415-9
Description:
activin receptor type-1 [Source:RefSeq peptide;Acc:NP_571420]
Human Orthologue:
ACVR1
Human Description:
activin A receptor, type I [Source:HGNC Symbol;Acc:171]
Mouse Orthologue:
Acvr1
Mouse Description:
activin A receptor, type 1 Gene [Source:MGI Symbol;Acc:MGI:87911]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa2068 Essential Splice Site F2 line generated Not yet available
sa38350 Nonsense Mutation detected in F1 DNA Not yet available
sa18736 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39902 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa2068
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000017977 Essential Splice Site None 506 2 11
ENSDART00000122860 None None 106 None 3
ENSDART00000127520 None None 506 None 9

The following transcripts of ENSDARG00000014986 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 41580791)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 41677527
GRCz11 2 41526867
KASP Assay ID:
554-3372.1 (used for ordering genotyping assays)
KASP Sequence:
GCGTGTCTGTGGAAACGGCTTAASATGCATCTTTGCTTCTGGACTTTTTA[G/T]GATCCAATGGGAAGACAGAGTCTGGCTGTGCGAATACTGAAAGGCAGYGC
Long Flanking Sequence:
TGGTATTTATGAAACATAATTAAACCTTGACAATGGGGAAACATTTAAAATAAATGTTACTATATAAAGTTTGTTTATTTGTTTTCTTGTTCAGATGTCATTTATTCATTTTTATGAATTTTATTTATTTCAGTGTTAAGTTTTTACATTTCTCATGCCAACTATTTTGTACAGTCAGATGTTCTTAATTCCACAAGCACAAGATGCTGCTCTCATTAAAGCAAAGACAAGCGAGTTAGATCATCTGAATTTCTGAAAATAAAAAATAAAGCACAACCATAATTTGTGGGACTTTTTTGTGTTTCTATAACCCTAACTTTAATATAAAGAGCAGCAGAACGGAATAAAGGCGTTAAGTCTGTCCAGCTCTCAGACTATCAGTGTTTAGAGACTTCCAGGCACCATTCTTATCCTGTCACTCGCTGTCCTGAAGAAATGACCATGAGGAAAGCGTGTCTGTGGAAACGGCTTAAGATGCATCTTTGCTTCTGGACTTTTTA[G/T]GATCCAATGGGAAGACAGAGTCTGGCTGTGCGAATACTGAAAGGCAGTGCTGAGAGTCACTTGAGGAGTTGTACAAGTAAGACTGTTAACTTTATTGTTTTTCGGATAAAATAATGCCACACATTTTCGAGAATTTAATCTACAATTAGTCATAGTGTCCTCCTGAGTTGTGTTCTTGAATTTTACACCACAATGGTGAGTTTGACACTCCCAAAATGTGTTTCTTTCTGCCTCTCCGAAAGTGCTCCTCTCCTTGTGTTTGATGTTGCTCCATAATGGGCATCTCTCTCTCTCCTCGGTTGCCACAGAAACGGCCCCCTCTCAAACACACACACACACAGACACACTCATGCTGTGTGTGCGGAAGTATTTGTGGCAGGAGTGAGAAAGAAAGAGGCAGAGCACAGCTGCACTCTCTAAAAATGTAATTAAGTTGTCATTTTTGCTGTCCTGTTTTTTTTCTTCGGGGGATTGATCCTGTCCTACTGTTTTGCACAACT
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa8093
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000017977 Essential Splice Site None 506 3 11
ENSDART00000122860 Essential Splice Site None 106 2 3
ENSDART00000127520 None None 506 None 9

The following transcripts of ENSDARG00000014986 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 41580216)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 41678102
GRCz11 2 41527442
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGTGTATCTTGGCTAAAATTTGAGTTTTGTAACACCTCAATTTCTTTTCA[G/A]TGCATTGAACCAAATGGGGCATTGCAGCACCCAAATCATCATCCTGTTCC
Long Flanking Sequence:
AAGTAAGACTGTTAACTTTATTGTTTTTCGGATAAAATAATGCCACACATTTTCGAGAATTTAATCTACAATTAGTCATAGTGTCCTCCTGAGTTGTGTTCTTGAATTTTACACCACAATGGTGAGTTTGACACTCCCAAAATGTGTTTCTTTCTGCCTCTCCGAAAGTGCTCCTCTCCTTGTGTTTGATGTTGCTCCATAATGGGCATCTCTCTCTCTCCTCGGTTGCCACAGAAACGGCCCCCTCTCAAACACACACACACACAGACACACTCATGCTGTGTGTGCGGAAGTATTTGTGGCAGGAGTGAGAAAGAAAGAGGCAGAGCACAGCTGCACTCTCTAAAAATGTAATTAAGTTGTCATTTTTGCTGTCCTGTTTTTTTTCTTCGGGGGATTGATCCTGTCCTACTGTTTTGCACAACTTTTATGTAATCTAGGCAGGTGATGCGTGTATCTTGGCTAAAATTTGAGTTTTGTAACACCTCAATTTCTTTTCA[G/A]TGCATTGAACCAAATGGGGCATTGCAGCACCCAAATCATCATCCTGTTCCTGCTTCAGTTCTTACAGACATCAGCTAAAGGTAAAGATTTTATTATTATTAATTAAGGCTATTTATTTTTATTTCATATTACATATGTAATGTTATACACGTATTTCAAATGAATTCTGTTATTTAGAACTTATCAAAGCATCTTGAAAATAAAATCTACAAACTACCACGTTTAGAAAAATTGACATTGATAATAAAAATATTTCCTGAGCACCAAACGACTTCTTAATTCCTGAAATGTAATGAATCAGAAGGCTCTTGATTGAAATTCAGATTTATATATATAGTTTATTTATTTATTTATTTTTTGAACATGATTTTTCCTAAAATAATTGTAGCTTTGATGAACATAAAAAATTGTTTTGTCAGCAGTTCTCAATCCTTGAACCATTAAACATTATTTATTTAGCATCACTCATGTTTAACACACCTGATATATATATTCAGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38350
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000017977 Nonsense 28 506 4 11
ENSDART00000122860 Nonsense 28 106 3 3
ENSDART00000127520 Nonsense 28 506 2 9

The following transcripts of ENSDARG00000014986 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 41577295)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 41681023
GRCz11 2 41530363
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGATTTAACTCTCTGGTTTTCTGTCTCTCTCCAGATGTCTCCATTGACTG[C/A]ATGTGTGTCGGCAGTGACTGTAATGAGCAGCAGTGTACTGGTGACCAGTG
Long Flanking Sequence:
TTATTACTGAACTGTTAATTGTTTGTGCACATTGGTGCCAATGTAAATGCCTATTCTATGCAGGCCAGCCACTAAGATGCAGCTAAAAAAACTTTCAGTGCAGTAGGATTGGTGTAGCTAGTTTTGGTTGTGCTTTTCTCTCAGGCTCTGTTAGCGTGTCTCATAGAGAGCATAAAACATGAATGCCGGGTTAATTGATCTGTGTCACTGATGCTCCCTGGCTCTTATCCTGTGTAGTCAATTTGTAAAGCTGACAGAGTTCAGTGTCACAGGAAATGAAGGCAGGGAGAAGGGAAGAAAACAGCCTGAGTTATCAGGCTTAGAAAGAGTCTCGTCTGCAAGGACTGGCGTCACGCTGGTCTTCCTTAATTAATTTCATTGTTCCCAGAGATTTTTTAGCTGGTGACAACTGACAAATGGCTACAGACGAGTTCCTCTTTCTTTAATTCATGATTTAACTCTCTGGTTTTCTGTCTCTCTCCAGATGTCTCCATTGACTG[C/A]ATGTGTGTCGGCAGTGACTGTAATGAGCAGCAGTGTACTGGTGACCAGTGTTACACCTCCGTTATCATTAGCAATGATGTGACGACGTTCAAGCGGGGCTGCTTGATCGGGCCGGCGAGCAAGCGCATGACCTGCTCCGCAACAGCTTCTGCTAGTCATGTGGTAGAATGCTGTTCTCAACACATGTGCAACGCCAACGTCTCCAAAGAGACCCTACTTCGACTGCTGCTCACAAGTAAGACTTTTAATCTGTAACTGGCAGGAGAATCGACATCTGGAGCTTTCCAGAAGTACTGTTGTGTAAACGGAGATCAAGATTAAGGATATCCAGACAAAATTCTTTCCAAAAAAAAGTCTTTGCAGCTTTTCAAATTGATATTGATTTTAAATATTATTGTTCATTGCAGATGTGATTTTTCAAACATTTAACATTTACAAGACTTGATACATTTAAAAAAATAATAATTATAATATTTTTTATTAATTTATCTGCTTTAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18736
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000017977 Essential Splice Site 179 506 6 11
ENSDART00000122860 None None 106 None 3
ENSDART00000127520 Essential Splice Site 179 506 4 9

The following transcripts of ENSDARG00000014986 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 41573390)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 41684928
GRCz11 2 41534268
KASP Assay ID:
2259-2452.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGTTATTTATTCATTGATGTTAGATGGTAACTAATATGTATGGTTTCCT[A/G]GGATCTGATGGATCACTCCTGCACTTCAGGCAGTGGTTCAGGACTGCCCT
Long Flanking Sequence:
AAGGGGAAAAGGCCAAGTGAAGGATCCACGAACTGCCAAGGATTAGATCCACAACTCGTTTGTCAACAAATCAGGCGAATTTACCATGACAATGCAAGAAGATCAACTGCTGAAGATCACAAATTATGGCGGCCTTTAAGGGGTCGTTCACATATTGCATTTTTTCCCGTCAAGATTTGTTATTTCCAGTGGCGGGACGCACTCATGCCTTCCATACGCACCCAGTTGAATGCAAACTGCGAGCACACCGCAAGTCACATAACAAGAACTGACCAATCAGCTTCAGCTTGTAGGGAATATACACATTTCGGTAGACTAATTGTCTAAGACAAACACAGAACACTGCAGTGTTTTTTAATTATCTCCATGAATAAAACTTGTATCAGAGTTACCTCTAAGAAAGTTTAGCAATATACGTAACCAGCCCCACACCAATTCTTTTTTTAACTGAAGTTATTTATTCATTGATGTTAGATGGTAACTAATATGTATGGTTTCCT[A/G]GGATCTGATGGATCACTCCTGCACTTCAGGCAGTGGTTCAGGACTGCCCTTCCTGGTTCAGAGAACGGTTGCGCGGCAGATCAGCCTGGTGGAGTGTGTTGGTAAGACAAACCGTAGGATTTACACGGAAGACTACACAAAACATGTCACTAGAGATATTTTAGGGTCTCATGGAACACTGCCTTGTTTCCGTTTAAAACATTTATGGGCACTATTTGTTCATATTACACATTTAAGCTAAACTTTTAAAAACTAGTGGTGTACACTTCATTCTTCATGTTCACAGCATCCTCCTGAGCACCAATATTTTCAGAATACCTAAAATATTAATCACCGTCTGGCTATCTGAGATTTTGGCATTGGAAGTACGTCAGACTCGACAAGTGGATAAACGGAAACCCTTTTTTTAGACCTTATGTAAGTGATGTCGACAAAAAATGTCTTTTTTGTATGTGTTCTCAGGTAAAGGACGGTACGGTGAAGTGTGGAGAGGTCAATGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39902
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
ENSDART00000017977 Nonsense 282 506 8 11
ENSDART00000122860 None None 106 None 3
ENSDART00000127520 Nonsense 282 506 6 9

The following transcripts of ENSDARG00000014986 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 41570349)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 41687969
GRCz11 2 41537309
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACATGACCTCCCGAAACTCTAGCACTCAGCTGTGGCTGATCACACACTA[T/A]CACGAGAATGGCTCTCTGTATGACTACCTGCAGCGTGTGGCTGTGGAGAT
Long Flanking Sequence:
AAATTGAATAAACTAAATTGACCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGTCTGTGTGTGTGTCTGTGTGTGTGTCTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTTCTAGTACTGGGTTGCAGCTGGAAGGGCATTAGTGCTGCAAAACATGCTGGATAATTCCGCTGTGGCGACCCCTGATTAATAAAGAGACTAAGCCAAAGAAAAATGAATGGATGAATGAATTAATAACAGAATTATCATTTTGGACTGAGCTAATTATTTAGGCCAAATAAATAGCCACTGCAAAGCATTGTGGCTAATGTTATTTTCAACTCTTTTTCTTTGCAGGCTTCATGGCTTCTGACATGACCTCCCGAAACTCTAGCACTCAGCTGTGGCTGATCACACACTA[T/A]CACGAGAATGGCTCTCTGTATGACTACCTGCAGCGTGTGGCTGTGGAGATGGCAGATGGACTGCACATGGCGGCTTCGATTGCCAGCGGGCTGGTGCACCTGCACACGGAGATCTTTGGCACGGAGGGCAAACCGGCCATCGCTCACAGAGACCTGAAGAGCAAGAACATCCTTGTGAAGAAAGATTTGCAGTGCTGCATCGCTGACCTGGGTAAATTCTGTCATGCCCTGTTTTTTGTTTATCTAATATTGAAAGCTGCTTGTACAGGACAAAACCATTTGATCTAGCAATATGAAATTTTACAAATGGGTCAGTCCTAAACTGCTTTTTTGTTTAAAGCAAATTACAGGGAACCAGCGATTTAACAAGAAGAGGCAATACACACAAGTAGTTTTAAATGTACCAAGGAACTGTTTCATTAAGTGCTAGAGTAAAGAGAGGGGAGTGTTCTTTCATAGAGAAAAGAGTGTTTCTACAGGTGGTTTATCACGCCCACTCA
Associated Phenotype:
Not determined