ZMP
EXT1A_DANRE
Ensembl ID:
Description:
Exostosin-1a [Source:UniProtKB/Swiss-Prot;Acc:Q5IGR8]
Human Orthologue:
EXT1
Human Description:
exostosin 1 [Source:HGNC Symbol;Acc:3512]
Mouse Orthologue:
Ext1
Mouse Description:
exostoses (multiple) 1 Gene [Source:MGI Symbol;Acc:MGI:894663]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22952 | Nonsense | Available for shipment | Available now |
| sa36257 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa2874 | Nonsense | F2 line generated | Not yet available |
| sa36258 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa9715 | Splice Site, Nonsense | Available for shipment | Available now |
| sa4684 | Essential Splice Site | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa22952
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 |
|---|---|---|---|---|---|
| ENSDART00000006439 | Nonsense | 324 | 730 | 2 | 11 |
Genomic Location (Zv9):
Chromosome 16 (position 51878640)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 48602953 |
| GRCz11 | 16 | 48544971 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTATAAAGAAATGCTGCACAACTCCACATTCTGTCTGGTGCCGAGAGGA[C/T]GACGCCTGGGCTCTTTCCGCTTCCTGGAGGCTCTGCAGGTACACTTTTAC
Long Flanking Sequence:
TAATATTTGTTAAACTGCTTGTTGCTTGCTGTATGTGGGCGGAGTAATACACAGAGGTGAAGGGTGAAGAGGCCTTTTTTTGATGTTACTGGCAAAATATTGCACGACTATCAGCCAATCAGATTCAAGAACCAGACAGAGCTGTTTTTTTTTTTTTACAGTGCATCAATTCAGCATCGATATCGCCATGTGTCCACTAGGATGCGCAATATAGAGTAGGCATTATACATGAGCGAAACCACAGTTTGAAACCCATGTAATCTGTAGCTTAACTGTAAAGTTTACCCATTTGGAATTAAAGTTCATAACGTGTGTGTGTTTTTCCAGAGCTTGCTCTTTCTCCAAGCTGCAGCATTTGTAATCTCTGCTAGATGTTTTGAGCTTTAACTGTTTTCCTGCTCCAGGATGTTTTGTGACCTCAGTGTTTCCTTCTTGTCCTCCACAGGTACGACTATAAAGAAATGCTGCACAACTCCACATTCTGTCTGGTGCCGAGAGGA[C/T]GACGCCTGGGCTCTTTCCGCTTCCTGGAGGCTCTGCAGGTACACTTTTACAGTCCAATTTTGTTGCTAATTACAGGCTGTTACTGTTAAGCAACATGACAGATGACAAATGTAATGATTTGCCACAATATTTCTGTCTTTACTGTATTTTTATTAGGCAAGACAGGTTGATTTGTATAGCCCATTTCATACACAATGCCAATTCAAAGTGCTTTACATAATCAGATTAAGAGAATCAATAAATAATCGCACGACAAGTAAAAGGAATAAAAACAACGAATAATTAATATGATTAAAAACAGATTTAACATATTAATATTGAATAACTGCAGCCTTGATTAGAGTTAGAGAATATTCAACATATTTTCTACATAAAGTATTTGAACAAAAATAAAATATATATTGTGAAATATTATTTTAATTCTTATTAATTAGTATTCACTGTGTTAGTGGATTTTTATTCAAATAAATACAGCTTTGGGGGAAGCTCGGTGACGCTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36257
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 |
|---|---|---|---|---|---|
| ENSDART00000006439 | Essential Splice Site | 336 | 730 | 2 | 11 |
Genomic Location (Zv9):
Chromosome 16 (position 51878679)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 48602992 |
| GRCz11 | 16 | 48545010 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCGAGAGGACGACGCCTGGGCTCTTTCCGCTTCCTGGAGGCTCTGCAG[G/A]TACACTTTTACAGTCCAATTTTGTTGCTAATTACAGGCTGTTACTGTTAA
Long Flanking Sequence:
CGGAGTAATACACAGAGGTGAAGGGTGAAGAGGCCTTTTTTTGATGTTACTGGCAAAATATTGCACGACTATCAGCCAATCAGATTCAAGAACCAGACAGAGCTGTTTTTTTTTTTTTACAGTGCATCAATTCAGCATCGATATCGCCATGTGTCCACTAGGATGCGCAATATAGAGTAGGCATTATACATGAGCGAAACCACAGTTTGAAACCCATGTAATCTGTAGCTTAACTGTAAAGTTTACCCATTTGGAATTAAAGTTCATAACGTGTGTGTGTTTTTCCAGAGCTTGCTCTTTCTCCAAGCTGCAGCATTTGTAATCTCTGCTAGATGTTTTGAGCTTTAACTGTTTTCCTGCTCCAGGATGTTTTGTGACCTCAGTGTTTCCTTCTTGTCCTCCACAGGTACGACTATAAAGAAATGCTGCACAACTCCACATTCTGTCTGGTGCCGAGAGGACGACGCCTGGGCTCTTTCCGCTTCCTGGAGGCTCTGCAG[G/A]TACACTTTTACAGTCCAATTTTGTTGCTAATTACAGGCTGTTACTGTTAAGCAACATGACAGATGACAAATGTAATGATTTGCCACAATATTTCTGTCTTTACTGTATTTTTATTAGGCAAGACAGGTTGATTTGTATAGCCCATTTCATACACAATGCCAATTCAAAGTGCTTTACATAATCAGATTAAGAGAATCAATAAATAATCGCACGACAAGTAAAAGGAATAAAAACAACGAATAATTAATATGATTAAAAACAGATTTAACATATTAATATTGAATAACTGCAGCCTTGATTAGAGTTAGAGAATATTCAACATATTTTCTACATAAAGTATTTGAACAAAAATAAAATATATATTGTGAAATATTATTTTAATTCTTATTAATTAGTATTCACTGTGTTAGTGGATTTTTATTCAAATAAATACAGCTTTGGGGGAAGCTCGGTGACGCTGTGGGTAGCACAATCACCTCAAAGCATTAAGGTTGCTGGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2874
Status:
F2 line generated
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000006439 | Nonsense | 368 | 730 | 3 | 11 |
Genomic Location (Zv9):
Chromosome 16 (position 51889184)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 48613497 |
| GRCz11 | 16 | 48555515 |
KASP Assay ID:
554-3318.1 (used for ordering genotyping assays)
KASP Sequence:
CCTTCTCCGAGATCATCRACTGGCGGACGGCTGCTGTCATCGGGGACGAG[A/T]GACTTCTTCTACAGGTAACACTTCCAGAAAACATCAAAACCCCAAAAACA
Long Flanking Sequence:
TATGTCCAATGATTTATAATATTTTCGTTCTTTAATTGTATAATTTTAAATTTTATTCTTAGCTTTGTTTAGTTTTAGGTTTAGACATATCATTTGTTTAGACATATTATAAACATTTTCTTCTTAGTAGCACTTTTGCATAGTTCTCCTCTCTGCGCCTGATGGTTATTCTCCATCATTGTTATGAGGCACGAGTCCTGCATTCAGACAGGCAGAGTCATGCTGTGTGTTATCCAGCAGATTTCTGAGAAACCAGAACTCTTCATTTCTCAGTCTGAAGTCAGAGCTCCTTTAGCTTTCCCACTTTCCACTGGAAGATGCTAATAAAAATTTCATGACGCTTGTTGTATGTTTCTTCAGCCTGTTTGAACTTGCTTCTGTGTGTGTGTGTGTATTTGTGTGCGCAGGCCGCTTGTGTGCCCGTCATGCTGAGTAACGGCTGGGAGCTTCCCTTCTCCGAGATCATCGACTGGCGGACGGCTGCTGTCATCGGGGACGAG[A/T]GACTTCTTCTACAGGTAACACTTCCAGAAAACATCAAAACCCCAAAAACAGACTCAGATTGTGTGATGCGTTGTGTGCTCCTGTGGTGTTTGTGCTCCTGCTTGTACCTGATGTCTTTTTGCTGCATATGTGGACAGAAACTGAAATGCATTCTAGTTAGAACTGTCAGTCAAATCCCATTTGTTATCTAATCAGTTACACAATGACGCAATTGAGTAATTGAAGAATTTACAAACTAATTGCATGTTAAATTTGTCAGAGAATTTACCCCCAAAGTCAGCCTTTGAGGTCATTATTGGGTTATATGTGAAAAGCTTCAATTAGAACACATACACTTACCGGCCACTTTATTAGGTACACCTTGCTAGTACCCTGTTAGTCCCCCTTTTGCCTTCAGAACTGCCTTAATCCTTCATGGCATAGATTCAACAAGGTACTGAAAATATTCCTCAGAGATTTTGCTCCATATTGACATGGTGGCATCATGCAGTTGCTGCAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36258
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 |
|---|---|---|---|---|---|
| ENSDART00000006439 | Nonsense | 382 | 730 | 4 | 11 |
Genomic Location (Zv9):
Chromosome 16 (position 51896275)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 48620588 |
| GRCz11 | 16 | 48562606 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACTGCTCTCTTCTCTTCGCAGATTCCATCGACAGTTCGCTCCATCCAT[C/T]AAGATCGCATTCTGTCACTCCGGCAGCAGACGCAGTTCCTCTGGGAAGCG
Long Flanking Sequence:
ATTCTGTATATTTTGCCTGCCTGTCATTTTGACATTTGACATAAATCTTTCTCTCTGCCATTCTATCCATTTGTCTATCTGTCTGTTTGTCCATCTGTTTTTTCTCTGTACATTTATCCATTCTTCTGTCCATTCATTCATTCATCCATCCATCCATCCATCCATCATCCATTTATCCATCTGTCCGTCTGTTTATCAGTCATTACATTTTGCTCTATCATTTTATCATTCTATATTTTGTTCCTTTTATCGTTTCTTCTGTCATTCTGGGCTTAAATAAGAAATATATATATATATAGTAAACTATTGCTTTGGTCGCACTCCTGAAAACTTTTTTACTGACTGGAAACATCCCAATTTGTCAAGCTGCACTGTTCACTTTGGGGGGAAACAATGTTTTTAACTGGTTTTTCTGATTGAAAAGGTCTGACTAGTAAAAAATACATTTTAACACTGCTCTCTTCTCTTCGCAGATTCCATCGACAGTTCGCTCCATCCAT[C/T]AAGATCGCATTCTGTCACTCCGGCAGCAGACGCAGTTCCTCTGGGAAGCGTATTTCTCCTCTGTGGAGAAAATCGTTCTCACTACACTGGAGGTGAGCAACTGTCTGATGAATGATGAGCTAATGACCGGTCGGATGTCATGTTTCAGCTCTAAAATGAACAGAGAAGAACATTTGAAACTAGTGTGTAGGAATTGAAGCTTATTTTAGGACCATTATGATAGGGCTGCATTGTGATTTGTTCAGCATCATTCCAGAGTTGTCATTACTGAAATGCATTCAAAATCAGATGTAATTATCATGAGTTTGACTTCTCATTATTTCACATGATTTGAAGATCACTGTGTGAATGGGGTGAATGTAGAAACAGCAAATTATATGGAGTGAATCCATTTTTAAATGAAAGAAATAATTGCCATTTTGAAGATAGACATGATCAGGTTGTCGATATGAGATGTAGAATCGGGCACTCAAGACTTAGGCCTCGTTTACACTAGTACG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9715
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:
A > T
Consequence:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000006439 | Splice Site, Nonsense | 528 | 730 | 7 | 11 |
Genomic Location (Zv9):
Chromosome 16 (position 51901087)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 48625400 |
| GRCz11 | 16 | 48567418 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATCGCTGGCCTGCTACTTCAGTTCCTGTCATCGTAATCGARGGCGAGAGC[A/T]AGGWRAATCTGCGCCGTCTTTATATTCTCTTATCAAATCAARTGTCTGGT
Long Flanking Sequence:
TTCAAATGATCTATTCAGATAGAGTCTGCAGTTAATGACTCACGGATTCAAATGATCCATTCCTAGAGAGTCTGCATTTAACTTCTCACTGATTCAAATGATCTATTCAGATAGAGTCTGCAGTTAATGACTCACTAATTCAAATGATCTATTCATATAGAGTCTGTAGTTAGGACTCACTGATTCAAATCATCTATTCAGATAGAGTCTGCAGTTAATGACTCACTGATTCAAATGATCCATTCAGAGTGCGTCTAGAGTTTTACTTTAAAATTAAATTGAAGACTATATTTTTTTTACTGGAGTAATATTTCCTTTAGAGTACCCGTACTTTTGCTCAAGTGCTTGTTTTGTGTACTGTTATTTACACACTGTTGAATTAAAGTTTTTATTGTCTGTATTTTCAGATCATGGTCTTGTGGAACTGTGATAAACCTCTTCCCTCGAAGCATCGCTGGCCTGCTACTTCAGTTCCTGTCATCGTAATCGAGGGCGAGAGC[A/T]AGGTGAATCTGCGCCGTCTTTATATTCTCTTATCAAATCAAGTGTCTGGTGCTGTGCGGCGGATGATGGATGGCCTATGGATTTGTAGCTGCTCTCCTTCTTGAATGTTTTTATCTTGCTAAAGTCTGGATTTGATGTGTAGGTGATGAGTAGCCGATTCCTGCCGTATGAAAACATCATAACTGATGCAGTCCTGAGTCTGGATGAAGACACTGTGCTCTCCACCACTGAGGTTCTTTCTTTTATCCTCACTTGTAAACTACTTTAGATAAAAGTCTCTGGTAAAAGAGTAAACTGAAACATAAAGTGAATTAGCAAATCTCAGGGTTTATGTTTTCATGGCTGTCTACACACAGTATTTACCTTAGTGCCCTTATTCCTGCAGGTGGATTTTGCCTTCACCGTCTGGCAGAGTTTCCCAGAGAGGATTGTGGGGTATCCTGCACGGAGCCATTTCTGGGACTCCAATAAGGAGCGATGGGGCTACACCTCTAAATGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa4684
Status:
F2 line generated
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 |
|---|---|---|---|---|---|
| ENSDART00000006439 | Essential Splice Site | 528 | 730 | 7 | 11 |
Genomic Location (Zv9):
Chromosome 16 (position 51901091)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 48625404 |
| GRCz11 | 16 | 48567422 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGGCCTGCTACTTCAGTTCCTGTCATCGTAATCGAGGGCGAGAGCAAGG[T/A]GAATCTGCGCCGTCTTTATATTCTCTTATCAAATCAARTGTCTGGTGCTG
Long Flanking Sequence:
AATGATCTATTCAGATAGAGTCTGCAGTTAATGACTCACGGATTCAAATGATCCATTCCTAGAGAGTCTGCATTTAACTTCTCACTGATTCAAATGATCTATTCAGATAGAGTCTGCAGTTAATGACTCACTAATTCAAATGATCTATTCATATAGAGTCTGTAGTTAGGACTCACTGATTCAAATCATCTATTCAGATAGAGTCTGCAGTTAATGACTCACTGATTCAAATGATCCATTCAGAGTGCGTCTAGAGTTTTACTTTAAAATTAAATTGAAGACTATATTTTTTTTACTGGAGTAATATTTCCTTTAGAGTACCCGTACTTTTGCTCAAGTGCTTGTTTTGTGTACTGTTATTTACACACTGTTGAATTAAAGTTTTTATTGTCTGTATTTTCAGATCATGGTCTTGTGGAACTGTGATAAACCTCTTCCCTCGAAGCATCGCTGGCCTGCTACTTCAGTTCCTGTCATCGTAATCGAGGGCGAGAGCAAGG[T/A]GAATCTGCGCCGTCTTTATATTCTCTTATCAAATCAAGTGTCTGGTGCTGTGCGGCGGATGATGGATGGCCTATGGATTTGTAGCTGCTCTCCTTCTTGAATGTTTTTATCTTGCTAAAGTCTGGATTTGATGTGTAGGTGATGAGTAGCCGATTCCTGCCGTATGAAAACATCATAACTGATGCAGTCCTGAGTCTGGATGAAGACACTGTGCTCTCCACCACTGAGGTTCTTTCTTTTATCCTCACTTGTAAACTACTTTAGATAAAAGTCTCTGGTAAAAGAGTAAACTGAAACATAAAGTGAATTAGCAAATCTCAGGGTTTATGTTTTCATGGCTGTCTACACACAGTATTTACCTTAGTGCCCTTATTCCTGCAGGTGGATTTTGCCTTCACCGTCTGGCAGAGTTTCCCAGAGAGGATTGTGGGGTATCCTGCACGGAGCCATTTCTGGGACTCCAATAAGGAGCGATGGGGCTACACCTCTAAATGGACCAA
Associated Phenotype:
Not determined