ZMP
HIP1R (2 of 2)
Ensembl ID:
Description:
huntingtin interacting protein 1 related [Source:HGNC Symbol;Acc:18415]
Human Orthologue:
HIP1R
Human Description:
huntingtin interacting protein 1 related [Source:HGNC Symbol;Acc:18415]
Mouse Orthologue:
Hip1r
Mouse Description:
huntingtin interacting protein 1 related Gene [Source:MGI Symbol;Acc:MGI:1352504]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45417 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa38814 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45417
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000085556 | Essential Splice Site | 285 | 1191 | 10 | 33 |
Genomic Location (Zv9):
Chromosome 10 (position 45625974)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 44607409 |
| GRCz11 | 10 | 44478488 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGGAATCGAGTTCTTCAAAACCATCATTCAGATCCCTGATCTGCCCAAC[G/A]TGAGATCCTGATCACATCTCTGAAGCTTTCAAATCCCCCCCAAAAATAAA
Long Flanking Sequence:
TGCGTTAACTAATGATAACCAGCATGCTTATGGATGTTAATAACACATTAGTGAATGATAAACTATGTAAAAATAAAAGTATAATCCAGCTTTTTAATGCTTTTTTTGCTTCGGAAGACAGAAATGAATGTCACAGTAATAACAGTTTATTAATAAAAGAAATAGTAATCTCTGGGAACATTAAAAGATGTTTACAGTCTCTTTTGATCAATTTATTGCTGAATTTGGATTAATTTGAAAAGTGAAGCTGCACAACTGAGAACTTTCTCAAAAAGTGAGTTTTATTTCTTTTCATTTGAGGTCATCTTTGTTTAAAGCAACATTATTTTACAGTCATGTGCACTTTATTGAGTTGTGTTTATAAAACAGATGTACATTGATTATTTCTGAGCGTGTGGTTTATTCGTCTGATTGTGTCTTTTAGTTTGACAGAGTTTTTCGAGAGAGCGAGGGGAATCGAGTTCTTCAAAACCATCATTCAGATCCCTGATCTGCCCAAC[G/A]TGAGATCCTGATCACATCTCTGAAGCTTTCAAATCCCCCCCAAAAATAAAATATTATTGACCTTAAAGGTTTAGTTCACCCAAAAATAAAGTGACTATAATTTTCTCATCCTCAAGCCACCGTCCATGTATAGGACTTTTTTCTGTCAGACAAACACAGAGTAGTTTAAAATTGATCCTGGCTCTTCATGCTGTATAGTTATATTGGATAGTGACTCTTATTTTGAAGTTTTCAAAATTCATCATAAAACGAACCCATTTTATGCTGTATAATCGTGTCAGATAGTGACTTTTATTTTGAAGTTTCTAAAATTTTTCAGAAAACCAGTCCATTATATGCTGTGTTTATTTTGAAGCTTTCAAAATTTGTATTACAAAATATAGTGTCAAAATAAAAGTCACTATTACAACAACATTATTCAGCATATAATGGGTCAGTATGGGTTAGTTTTACGATCAATTTTGAAATCAAAGTCTCTTCCCGATACCATTATACAGGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38814
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 |
|---|---|---|---|---|---|
| ENSDART00000085556 | Essential Splice Site | 346 | 1191 | 12 | 33 |
Genomic Location (Zv9):
Chromosome 10 (position 45624490)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 44605925 |
| GRCz11 | 10 | 44477004 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTATGGGTTCAACCAGTTTGATTATCCAGTCGATGTACCGGAGCAAAGG[T/A]AACAAACACATTTTATTTAGTATTTTTAACAGAAATTTTCATTCTTAAAT
Long Flanking Sequence:
ATAAACAGAAAAATTGTTTCCCAAAAATGTAAACAAGGCATTTTTAAACACATATACAGGATGATCCTTAATATAAAGAAGGCTGTCTGAATGTGTCGTAATTTTTTATTTTATTTTCTGCATTTTGTGTGGTTTTGGCTTCAGTGTTTGTTCAAACTATTACATTTATTTATTTAGTGAATGTAAGCTGTGCAAACATTAAACTTTAAACACTGGACATGTTCTGTTCACACTGATAAACTACAGTTATTAGCAACAAATATATAAGAAACGTGTTCACTAAACTAAAACTAACAAAACTATTAAATAAATGATGCAAAATGCAAATCTATAATAACTTTCTTTGTAGGTGTTTGTGAAATTTATTATAAATATTAAGTGCAGATTGTGTTGCGGAGTGTGTTTCTGCATTTGTGACCACATTAACATGTCTTTCTTTTGTTTAACAGTATTATGGGTTCAACCAGTTTGATTATCCAGTCGATGTACCGGAGCAAAGG[T/A]AACAAACACATTTTATTTAGTATTTTTAACAGAAATTTTCATTCTTAAATGAAGATATTTTTATTGGAGGTGTGAAAATGGTGGTGGAAGGTGTGAATTTAGTTTATGAAAAATTAGATCAATATTGTTTTTATGCCTAAAAATATGAGTTAAGAAATATAAACTTAGTTTTGTTTACCTCATTGGGAGAAGTTTGTAAGCAATATTTTAGTATTTATTTTAGTTTATATAGTATATTAGCCCTGATAATGTACCTGCACATTATTCAGGCACAAGATGGCCCCAAACAGTGTAAAACAGCAGCATGACAGACGAGCAGACACATATGAGTGTGTATGCTAGTGTATGAATGAACATATTCACTGACGGTTATTCTCAGCTCCCAGATGAGTCTGTGTTATTCAGCGGTGGTTATCTGGGAATAATAGACTGACCAATCGTGTAATAATAAGCGAATAGTAATAAAGGAGCAGACTGTGGTGATGTTAGTAATGTGAATA
Associated Phenotype:
Not determined