ZMP
arvcfb
Ensembl ID:
ZFIN ID:
Description:
armadillo repeat protein [Source:RefSeq peptide;Acc:NP_001122006]
Human Orthologue:
ARVCF
Human Description:
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Mouse Orthologue:
Arvcf
Mouse Description:
armadillo repeat gene deleted in velo-cardio-facial syndrome Gene [Source:MGI Symbol;Acc:MGI:109620]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33605 | Nonsense | Available for shipment | Available now |
| sa13911 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa33605
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000088222 | Nonsense | 624 | 918 | 8 | 15 |
| ENSDART00000144035 | None | None | 124 | None | 3 |
| ENSDART00000146070 | Nonsense | 692 | 986 | 9 | 16 |
The following transcripts of ENSDARG00000061688 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 27933835)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 25689133 |
| GRCz11 | 5 | 26289286 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTGTGTATGTGTGCAGGTTTCGAGTTACTGTATCAGCCGGAGGTGGTT[C/T]GACTCTACCTGTCCCTGCTGACTGAGAGCCAGAACTACAACACGCTAGAA
Long Flanking Sequence:
CACTGCTGCTATCACCGTGTCCAAACTAACTGGGTATCCTCAAAATTACTTTGTTTTTTGCATTAGAGCCGACTGACCCTGAATCAGGGAAGGGGAGCTTCTTCTTTTGCATTTCCGACCTCAATTCATGTTTAAAAAAGACCTGCTGATTACGCTGACTGATATCAGAGCTGCTGCTATCAAGAAGCCAAGCGTCCATCAGACTATTGGATTTTTTTAGGCAGTTTGTCTATTGAGCTGCTCAATATATCTGTGAAAGTGGAGTGTCTTTGATTTTCTGTCTCTATTTCTTTGGGGTGATAATCACGCATTGTCCTACCCTGTTATTTTGTCCACTTTTCATTTCACCAGGTGCATCACAACACCGACAGCAGGAAACACAATCAATGTTTACCGCTCCCGAGCTAATCTGTGTGTTTGTGTCTGTGCTGGACTGTGTTTAGAGGTGTTTTGTGTGTATGTGTGCAGGTTTCGAGTTACTGTATCAGCCGGAGGTGGTT[C/T]GACTCTACCTGTCCCTGCTGACTGAGAGCCAGAACTACAACACGCTAGAAGCAGCAGCCGGTGCTCTGCAGAACCTCAGCGCTGGACAGTGGACAGTAAGTGTCTTCTCATTACAGTCCTGCACATATCCCAACTGAATCAGAAATCGATTCTTGATCCAATTCCAGGTCAGGGTTAGTTTTTATGACATTTATTTGCATTAATTCCCGATAGTGTTTTCTTTATCTTAAGCATATTTTATGATAAAATCTAAAACAATTGACACAAAACAGATGTCACTCATTTTATTTTCACTGTGCATGTCAATCTTTTGAGAACTACATTAACTTTAATCTAAATTTTTAATTTAATTAATTTTATTAATTAATTTAATTTATTAAATTTAAATTTATTTAATTTATTTATTAATTAATTAAATTTTTAAATAATAAATCTAATTAGAATAGAACTCTTAAGGCCCCTTCACACCGGGAAGCTTTCTGCTCACGTTTTCCGTCAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13911
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000088222 | Essential Splice Site | 807 | 918 | 11 | 15 |
| ENSDART00000144035 | None | None | 124 | None | 3 |
| ENSDART00000146070 | Essential Splice Site | 875 | 986 | 12 | 16 |
The following transcripts of ENSDARG00000061688 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 27925777)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 25681075 |
| GRCz11 | 5 | 26281228 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCTGAGGAACGCCCTVAYCAAGGATGGCTGGAATAAAACACACTTCCAG[G/A]TAGAGTCATAGTRAAAAATCTGGAAAAACTTTAATGTCTGGTGYACNNNN
Long Flanking Sequence:
AGTAAGCCATATGTTAAACAAACCTCCTCCATCCTCTCCACGCGTGACCTCATTTAAAGCTTCACATCATTTCTTACCGCTTCTGCCCGAGTCTGATTTTACCCTCAAAACTAAATATTGATTGTGAGAGATTAACTTTTTAAAGAGTACACGCGCGACCAGAGAGCGTTTCTCTATCTCTTTCTGACTCTGGAGATGCGGCTTTGAAGTCTCAGGCTCCTGGTAATTAAGTGAGGATCACAGGAAAAGCTAACGAAGTGAAAAGAGAGGAATCTGTGGCCACAGGGGTTGGAGATTGGAGCCGTGGTGACTGGATGACTTTGAATGTGAGAGTTATTCCAGCGGGCTCAAGATCCCTCCTAACTCTGTGTGTGTTTATGCGTTGCAGCCAGTCGGCAAGGGAGACCAAAGCTGCTTCCCATGTTCTGCAGACGGTTTGGAGCTATAAGGAGCTGAGGAACGCCCTCACCAAGGATGGCTGGAATAAAACACACTTCCAG[G/A]TAGAGTCATAGTAAAAAATCTGGAAAAACTTTAATGTCTGGTGTACTGACTAGTTGTATTACACGTTTCCAACATGCATTCTCCACATTCCACAAATATCCCAGTAGCAATAAATTCATAATGTTAAAAAAATGGTTAAAGGGAAACTGTAGTTAACCCAAAAAGGAACACTTACACACTTTTTACTCTTCCTCAAGTGATTAAAAAAATTATTTTGTTTGTTGAACACAAAAAAAAAACATACTAAGAAATCTGAAAACCTGTAACCATTGACTTTCATAGTAGGACAAACTAATGCTTTGCAGGTTTTCAGCTTTCTTCAAAATATCTTCTTTTGGGGTCAACAGCAAAAAGGACTCAAACGTGTGTGGAAAAGGTAAATTTTTGTGTTAACAATCCCTTTAAGTATTAAAAGACAAAATTTTATAAAGATATGCATGGGTAAGATTTTACTAAACAAAAAAAAGTTAAAACAAAAGTGGAGATTTCATTACAGTGGT
Associated Phenotype:
Not determined