ZMP
si:ch211-198b21.4
Ensembl ID:
ZFIN IDs:
Description:
PTB domain-containing engulfment adapter protein 1 [Source:UniProtKB/Swiss-Prot;Acc:Q32PV0]
Human Orthologue:
GULP1
Human Description:
GULP, engulfment adaptor PTB domain containing 1 [Source:HGNC Symbol;Acc:18649]
Mouse Orthologue:
Gulp1
Mouse Description:
GULP, engulfment adaptor PTB domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1920407]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa15770 | Essential Splice Site | Available for shipment | Available now |
| sa15590 | Essential Splice Site | Available for shipment | Available now |
| sa41508 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa31740 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15770
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002027 | Essential Splice Site | None | 300 | None | 11 |
| ENSDART00000138133 | Essential Splice Site | None | 375 | None | 12 |
Genomic Location (Zv9):
Chromosome 9 (position 43680303)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 42805473 |
| GRCz11 | 9 | 42607260 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTGGCAGGAGACACTGGCCGGTCYTTAGGAAATCTCCCCTCATTATTGG[T/A]AAGAATKTTGGCCNTTTTTTTTATATGGAGAGGTCTGACAGAAAGGACAGG
Long Flanking Sequence:
GCTATTCTAGCATATTTATTCTAATATTGAAAATAAAGTGAAAAAGCCATGTATGAACAGTATTGAGTTCATCAGTCATCATGCAAATGTTAAGTGCTGTGATTATCCAATCGGAATCAAATATTCCAGTGCGATAAATTTAAGCATTTTCCCTTACACAGCACACTTTATTTCCGTCATTCTCTTCTTCCTGTCTGCTTTTCTCTTGTTCTTTCTCTCAAGAGCTTCTCTCACACTCGTGAGACACCTCGTTCTGCTTGCAAATCCGCCGCCCCTCTTACTTTAGTACTTCACATAACCCCATCTGGCCCACAGCTGAAAACTATTAAGCACTGCTGGAACTTCCTTCTTAGTATCCCAGCTTGTGTAAAAGCGAATAAGTCGCCTGGCTCTGCATTTCACCCATCTCTTTGCTTTCGTCTAAAAGCTGTCTTTCTCATTTGGTTTGTCTTTGGCAGGAGACACTGGCCGGTCTTTAGGAAATCTCCCCTCATTATTGG[T/A]AAGAATTTTGGCCTTTTTTTTATATGGAGAGGTCTGACAGAAAGGACAGGAGTGTTTGGAGTGTGGCTCTGAGCTCAGCGGAGAATAACAACTGATCCATGTAAGGAATGCGGAGGGCTGTATTGATAAACATTGTTTTTAGAATCTTCGCTATTTGAGCTCCGTGAATAGGTGAAGACAATGGATGGTTTCATTTCATTTTGCTTCTTGTTTTGTTGTAAATGCTGGCAGGGTTGGCTCAGATATGGGTCATATCTGTGGAATGCTCATTGGCTTTGAACAGCCCTAACTTTTCTTTTTTTTCATCTGTGGATGTTTACATTCTCCTGTTCATCCTGAGCTTTCTGTGCATTTGGAAGCTGTTTTGGTTTTTATCATCATAGCAGAAATTCAAAGGAGAAAGTAGGTCACTTTTTAACATTTCCAAACGTCTGTGTGATTATGCGGATGTTTTGTGTTGCTATTTTACAGTTCAGTTCACCGTGGAGGTCTATTATTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15590
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002027 | Essential Splice Site | 54 | 300 | 4 | 11 |
| ENSDART00000138133 | Essential Splice Site | 54 | 375 | 4 | 12 |
Genomic Location (Zv9):
Chromosome 9 (position 43710826)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 42835996 |
| GRCz11 | 9 | 42637783 |
KASP Assay ID:
2260-2283.1 (used for ordering genotyping assays)
KASP Sequence:
TCAACCTAAAGRTACAGAGGTGGTGAAAGATGCCGTCAGAAAGCTCAAGG[T/C]TAGTTACTGCCGCTTCAGATTRCSTGAACACTGTTGGCAYCTTCATTTCT
Long Flanking Sequence:
AGAGTATCTGCACAATAAATGAAAGCACTGATGTGTTTGCTTGTGGGTCAGTTTAACTACAGTGCATGTCCTTAAGTGCTCTCCTTCGTGTGTGGATTATATAACTTACTAACCTTTTTTATATTTATATTTTTTTCTGTAAAAATGTACAATGTCCATGCCAAAAACTAATATACAGTACTTAGTAGACAATAATTAATATGGTGATTTAAATTTTATTAAATTCTAATAAAATTTTTGCATGCATTATTTATACAAAATAAAACAATGTAAGGCAATACATTTTTTGTAAATAAATAGACAAAACGATTCAACAAAAAATATCTCCATGTAAAAAAATATTTTGCTCTATTTACAATTAGTGTTTAAAAGAAAGAAATAAACAAATCCCATTTCATACAGTATGACTCGTATGTGTCTCCCACAGTTTCTAGGAAATACAGAAGTTGATCAACCTAAAGGTACAGAGGTGGTGAAAGATGCCGTCAGAAAGCTCAAGG[T/C]TAGTTACTGCCGCTTCAGATTGCCTGAACACTGTTGGCACCTTCATTTCTCTTGAGAGGATGCAGTATCTGCACCTTCCAGCAGCTTTAGACCTTCAGTCCTAGATCATTTTACCTATTTGAAAATACATAGAGAAACTTTTATTTTCAGCTATCCACTCTCAATTTTACAATATCTTATCATCACATGGAATTTTGATTAAATACAATTAATTAAAAAATGTGGTTTAAAACTGTTTATAAATGGCTCCTTTTCTGTTTTTAAAAGGAATTTAAGTTGATTTTGTTTTGTGGTGCCCTTTAATTTTCCTTCTGTTAATATGCGGTGACTTGTGTGTTAAGCAGAAAAAATGTTCAATACACGTCTTCTTTTTCTCTCTCTCTCTTTTTCTCTTTCTTTCTTTTCTTCAAAGTTTCAGAGACATATTAAGAAGTCAGAGGGACAGAAGCTTCCAAAAGTGGAATTACAGATCTCCATCTACGGAGTAAAAATATTAGATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41508
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002027 | Nonsense | 91 | 300 | 6 | 11 |
| ENSDART00000138133 | Nonsense | 91 | 375 | 6 | 12 |
Genomic Location (Zv9):
Chromosome 9 (position 43712281)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 42837451 |
| GRCz11 | 9 | 42639238 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCATGACTTCTTTTCTAATCTTGTTTTCTTATTCAAAGGAAGTGCAGTA[C/A]AACTGTCAGCTCCACCGGATATCCTTCTGTGCAGATGATAAGACAGACAA
Long Flanking Sequence:
CCATCATTATACAATAACTTGCGTAATTACCCTAACCTGCCTAGTTAACCTAATTAACCTAGTTAAGCCTTTAAATGTCACTAAGTTGTGTTGAAGTGTCTTAAAAATATCTAGTAAAATATTATAGATTGTCATCATGCCAAAGATAAAATAAATCAGTTATTATGAGTTATTAAAACTATAATGTTTAGAAATGTGCTGAAATAATCTTTCCTTTATACAGAAATTGGAGAAAAAATATATAAAGGGCTAATAATTCTGACTACAACTTTGTGTACACTTTCTGGTTATCAAACATTCGTGAATCATGTTTTTAGATGATATGATCTACTTCACCTGTAGGAACCTGCAAATCTTGTAGTTTAAATAGAATTAGACTGATTCAAAAATGTATCCAAATATTTTTGTGCACTGCTATGCATGCATATCCATCTCAAGACCCCATGTTTTTCCATGACTTCTTTTCTAATCTTGTTTTCTTATTCAAAGGAAGTGCAGTA[C/A]AACTGTCAGCTCCACCGGATATCCTTCTGTGCAGATGATAAGACAGACAAAAGGATATTCACATTCATTTGTAAAGATTCAGAGTCCAACAAACATCTCTGCTATGTGTTTGACAGTGAAAAATGTGTAAGACCACAGACAGCATGTCATAATATTAGCCCGAATTCTTCTTTGAGAAATGATTCAATCATTCTTAAGTATTGTGTTAAACCTTTTTTCAATTAAATACATACCTAAAGGGGTCATATTATGTGTTAAACATTCACTTTGTATTTATTTAGTGCATAATGATGCAAGAAAAAATGTCTAGAAAGTTACAAACACAACACAGACTGTTCCAAAGGGTGTTATTTTCTATATTAGTAAACACTGTTTCTGAACTCCCTCGACCAACTCTTTTATTGATAATGAACACATCCCAATACTCCAAATTTAGGCAAATAGTAGAGCTGTGTTACTTATTTGTTGCTATGCGGTTACTTATTTGAGATATGTTTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31740
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002027 | Essential Splice Site | 246 | 300 | 9 | 11 |
| ENSDART00000138133 | Essential Splice Site | 321 | 375 | 10 | 12 |
Genomic Location (Zv9):
Chromosome 9 (position 43717761)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 42842931 |
| GRCz11 | 9 | 42644718 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAAGTAATGGCTCGGCCCCTCCACCCCCGGCAAGACCTACAGAGATTAG[T/A]GAGTTCTCTTTCTTTTTCTTTGCCAGCATTTGAGAAATGTTGCTTATTCC
Long Flanking Sequence:
ATGGCTCCCAAAGTCTCAAGATCTCAATCTTTTAGAGCACGTTAGGGATGTACTGGAATGGGAGATTCACGATTTCCAGTACCTGGTTGAATCTATGTCACAAAGGATTAAGGCATATCTGAAGGCAAAAGGTGGTTCCAACCAGTACTATTAAGGTGTACCTAATAAAGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATATATTAGTATGTACAGTAAGTCTCACTTAATCTTTTGACTAATAATATTCTATATTCAAATATATTCAAATATATTTTTGGATGATTTAATCTTCAGAATGCTGATGTACTTCATGCTTTATTCACATTTGCAGGGAAACAGCATGTCTTCAAAAAGCCCCACAGACATATTTGACATGGTTCCGTTTTCTCCAATGACTCCATTGGTTCCGTTACCAGCAAGTAATGGCTCGGCCCCTCCACCCCCGGCAAGACCTACAGAGATTAG[T/A]GAGTTCTCTTTCTTTTTCTTTGCCAGCATTTGAGAAATGTTGCTTATTCCAGTTGCATAGGCAGTCGTTTCTCTTTCATGTATTAGAGAACTTCGAATCAGTGGTCTGTAAAATGAAGGAAAACAAAAACCTCCCTTTTGTTCTTCAGGGAGAGACCTGTTCGGTGCAGAGCCATTTGACCCTTTCACCTGCGGGGCGGCTGACTTTCCTCCAGACATCCAGTCTAAGCTGGATGAGATGCAGGTGACTGCATGTCTGTGAATTATTAGCAAATGGACTGGTGTGAATGAGCAGCTAATGGAGCTGACGGTACGCACTGCTGCAGCTGTGAGGATTCTTTCAGTTCAGAACGGACACCCATATGATGATTTTTATTTTGCTTGATGTTTATTTGGATTTGTCTTGGGAGTGCTAAATGTGGATGAAAAGTTTCAAGAGAAGTGCTAAGTTTGCTTTTTGTGAAGTATGCTTTGATCCCGCTCACATGCAGAAAATCTTGC
Associated Phenotype:
Not determined