ZMP
rufy3
Ensembl ID:
ZFIN ID:
Description:
protein RUFY3 [Source:RefSeq peptide;Acc:NP_001014357]
Human Orthologue:
RUFY3
Human Description:
RUN and FYVE domain containing 3 [Source:HGNC Symbol;Acc:30285]
Mouse Orthologue:
Rufy3
Mouse Description:
RUN and FYVE domain containing 3 Gene [Source:MGI Symbol;Acc:MGI:106484]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45222 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa40532 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45222
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000039973 | Essential Splice Site | 358 | 470 | 10 | 13 |
| ENSDART00000125364 | Essential Splice Site | 299 | 570 | 9 | 17 |
Genomic Location (Zv9):
Chromosome 5 (position 44549658)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 42330923 |
| GRCz11 | 5 | 42931076 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTGGAGAAACTCGCAAACAGCTCAAAGAGGAAACTCAGCTCAGACTTG[T/A]AAGTAAAACATTAATGTAAAGCAAAGTAGAGTAAGACACCATGTTAGAAG
Long Flanking Sequence:
TAAAATTGCTCGATTCTCAGGATTTGAACATTCTATGAGACATTTGGGATAATGTAAACACATATGTTATCCAAGTATATAAGATCGTATTAGTCCTTTTTATATATTTTTATAAAACAGTCATACATATTGTGGTCTTTATGTAGGTAGATAATAGCTGTTAGTAGGCAATAATTCATTTGTTAACTCAACTATGTGTGCACATTCTGTTTCTTGTTTAGCTTGCTGTTGCAAACAACAGGATCATCACTCTGCAGGAAGAACTGGAAAGAGTAAAGGAAGAGGGCTCTTACTTTGTGGAATCCAGTCGCAAGGTGAGCAAACACTGTGTTGAACTCACAACTATATAATTCAAATCACAGATGGCTAACAATCAGTCCAACAACATGATTTATGACCTGTGTTCCTCCTGAAGGCTTCGAGGGCAGATGGAACTGCAAATGGCCAAGTGCTTGGAGAAACTCGCAAACAGCTCAAAGAGGAAACTCAGCTCAGACTTG[T/A]AAGTAAAACATTAATGTAAAGCAAAGTAGAGTAAGACACCATGTTAGAAGTGCATGATTGTGATTTGTGTGTGTGCAGGATGTGGAGAAGGAGCTGGAGCTGCAGATCGGGATGAAGCAGGAGATGGAGTTGTCCATGAAGATGCTAGAGAAGGACATCTGTGAGAAACACGATGCTTTGGTGGAGCTCAGACAGCAGTTAGATGACGTGCGCACACTCAATCATGAGCTCTCCGTTAAGTCACAGGTAGGAAAAACACACTTACAGGTTTCTCACATGAAAGTTTTACAGAGGAGCGGCTTCTCAAGCTTCAACACTTTTTTTTATACATACAATATATTGAGTCGGGACTATAGTTGAGCAGGAGCCATAGTTGAAAACATGATTTATGGGGTCTTGGCCATACGTTTACTAAAAAGTTAATCATTTGCATGGGTCATTTGCATATTTTTTCTGTGTGCATTTCAGGTCAGTTTAAAGCATTCAGACACTAGAAAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40532
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000039973 | None | None | 470 | None | 13 |
| ENSDART00000125364 | Nonsense | 463 | 570 | 13 | 17 |
Genomic Location (Zv9):
Chromosome 5 (position 44556453)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 42337718 |
| GRCz11 | 5 | 42937871 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCTGAAACTCTGCTGGGAAAAACACCTCCGCAGCAGAGAGACAGCAAA[C/T]AACACATCGAGGACATCAGAAAGGTGAAGCTCTTTCAAATTTCACTGAAT
Long Flanking Sequence:
TATCTTGTTTTTCTACTGTGGAAGTCAGCTTTCTTCAAAATATCTTAATTAATATTAATTTATGGTAGGATGCGTTCACACTTGGTCCTACCCTGTACAGATACTTTCCAATAAAAGTGAACCAAATAAGATAAATTGTGTCTATGTGAACCAATTGTGAAGTGAACATTTTCTATTTTAGTTTTCTTATTGCAAGTGGCATGAACATAAATAGAAAAATAAACAAGCAAACATAAACAGGAATGTAAAATGTGTGGCTGATATTTACGCCAGTCTCCTGAACCCTATACTTAAAGCACACATGTGGTCATTATCGGGTATTTTTCGGCCACTGCTACTGTGTAAAATGCAGACATGTGCTTGTGAAAGTGAAAGAGTCTTTCTCTCTGTGTGATAGGTGGATTTTGGAACAAGAGCTGAAGAAAGGCAGAGATCATCCTGGAGTCCAAACACCTGAAACTCTGCTGGGAAAAACACCTCCGCAGCAGAGAGACAGCAAA[C/T]AACACATCGAGGACATCAGAAAGGTGAAGCTCTTTCAAATTTCACTGAATTCACTGAATTTTCACATTAAGATACTTTCTCTGCATAAGTGTAGTTTTCTGAAATGCATACGTTTTTATATAGGAGTTAGAGTCTGTCAAAAAGGAAAATGATACACTGCGCACTGCACTAGAGGAAAAGACGAGTCTGAGTTCCAGTTTGTAAGTTTATCTTAAACACTGAAACCTTTGTGTTAAGCTGTATTAATGAACTGCAGTGTTATTGAAATAATCTTAAAACTGTTTTTCTTAGGACACTGTCACATGAAGATGAACAGGTACGCTACATTTTATTAATCTGTGAGGTTTGCTCCAGTATTCTTATTGTTCTTTTCATGAATTCATGAAGTTTCCTTTTGTTTGTTAGAACCAGTCTCTTTGTAAAGAGGTTGACCCTTCAATCTGCACAATGTGTGAAAACCAAGACTCACTGACTTCACCCAAGGTACCAGAGTGATCTAA
Associated Phenotype:
Not determined