ZMP
smndc1
Ensembl ID:
ZFIN ID:
Description:
Survival of motor neuron-related-splicing factor 30 [Source:UniProtKB/Swiss-Prot;Acc:Q7ZV80]
Human Orthologue:
SMNDC1
Human Description:
survival motor neuron domain containing 1 [Source:HGNC Symbol;Acc:16900]
Mouse Orthologue:
Smndc1
Mouse Description:
survival motor neuron domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1923729]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42907 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa15892 | Nonsense | Available for shipment | Available now |
| sa14965 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa42907
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 |
|---|---|---|---|---|---|
| ENSDART00000031547 | Essential Splice Site | None | 237 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 17 (position 20068268)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 20218279 |
| GRCz11 | 17 | 20238115 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAATCATCTGTTTTTTATATATAAATAGTATACTCGGAATATTTAAAGG[T/A]AAGCCTTATGCTACAGAATGATCCTGTATTCCTGTTTATAATCATATAAA
Long Flanking Sequence:
AGAAACTGCTACTATGATGTGCACAAACGACTGACTGTTTTGAGAAATGCATTAACTGTTGTGCGAATGTAGTGTAGTGTAAAAAATGCACCAAAGTCACTGAGAAAAACTAATAATCCAATTTAATTAACCAGCTGTCTGTTTAATACTACTGTTATTATTATTGTTGTTGTTAGTATATACCTTTGCTCCACTTGGTGCAAAAGATCGACGGATCGAATGATCGAAGATCGAATACACAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTGGTACTGCAGAGCCACTACTGCTTTGGTAACATCGCGACATCACTTTGCTCAAGCGAGAGTGTGGCGTCACATCCGGGAAAAGGTCGAGGCGACGAGAACGAGAGGAGAGCCAAACGTAACAACAACAGCGGCATTTCTTTTCACGAAAATACAGTAGTACATGGACAGTTAAATACATAAAATCATCTGTTTTTTATATATAAATAGTATACTCGGAATATTTAAAGG[T/A]AAGCCTTATGCTACAGAATGATCCTGTATTCCTGTTTATAATCATATAAACATGGCTTCTGCCGAGCGCGAGGCCTTTCGCTCGCTTTATACATTAATCGCTGATGTGCATATAACTTGAAACAAAAAACAAACGCTTTCTGATATTCAATGAATGGGCTAACAATTGTAATACGAGATTAGTATTTAACAAATAAATAATCAAATATTTCCCCTTTAACGTGTAAAGATTATAACGGGTTCCTTACGACATCTCAAGCGAATAAGTAACGTTAGTCAATTGTAGTACATGACTTATTAACATATCTATAAGCAAACAGGAGTGTACTTGTAAAACTATTTTGGTAGGATTTGGATAATAACGATGTTGAACAGCAGGTTATGAAATTTGAAACAATTATTTATAAGTATGATGAGATAAGGTGGATGTTTTGAGGCCTGTTTCACTTGTCATATAACGTTAATAAGTGTTTGATTTTTCAGATGTCTGAGGAGTTGATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15892
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000031547 | Nonsense | 95 | 237 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 17 (position 20071583)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 20221594 |
| GRCz11 | 17 | 20241430 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCACCTGCTTACAGTGGTGTGTGATTAACAGGGTGTATGAGGCAGAAATT[G/T]AGGAGATTGACAATGAGAAYGGCACAGCAGCYATCACCTTCGCTGGCTAT
Long Flanking Sequence:
CCATTGCATGGCCACCTGGAGTCAGGACGGACAGTGAGTATCACACAAACACAATGCTGGGAGGTATATAGGGAATTTATGTTGTTAAAGGGACAGTTCACCCCCAGAAAAGAGACGACTACCCTCAAGAGGTTCCAATACTTTTTCTTTAGTTTTATTTCATGTTAAACACTAAAAATGATTTTTAAAGCTGAAAACCGGTAAATAAACACCCGTCACAGTTTGAACAATTACAATGGAAGGCAATGGTTACCGGTTTCCATTATACATCAAAACATCTTCTGTGTTTGACAGAAGAAAAAAAACTCAAGCAGGGTTGAGACAAGTGAAGGGTGAACAAATGATTAGAAAACTTTAATATTTGGACGAGCTGCCCCTTTAAAAGAGCAGAGTGGGATTGTGGCCGGCTGCATTTGGACATGCCAGAGGGGTTGAAGTATACATTTGTACTCACCTGCTTACAGTGGTGTGTGATTAACAGGGTGTATGAGGCAGAAATT[G/T]AGGAGATTGACAATGAGAACGGCACAGCAGCCATCACCTTCGCTGGCTATGGAAACGCTGAGGTGATGCCACTTCACATGCTCAAAAAAGTGGAGGAGGGCCGGATAAGGGACGAGATAGATGGAAAACCCAAATCCAAGTAAGTACATTTTCAAGGTACATGGAAATTACGTTGCATATAATTGAATTACATTGTTGCAAGACAAAGCATGGGTTTAGTTTCAGTCAGAAATTATGAAAAATAAGGTGTTGGTAGTCCCAAGGTATATTAAAAGATCTATGCACATATGCTAGAGTAGGGTTGCACAATATATCGCTTCAGCATCGATATCGCAATGTGATCATTCGCAATAGTCACATCGCGAGTATATGCAATGTTGAGTCTGGATTTTAATCATTTTGCAAGTGTTTTTTTGAGCCCTGTGACTTTGTGAGGGGTTTAAAAACATTCAGGCATAACAAATTGTAACATAACTTTTTTTACAATTTGTTATTTTATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14965
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 |
|---|---|---|---|---|---|
| ENSDART00000031547 | Essential Splice Site | 141 | 237 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 17 (position 20071724)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 20221735 |
| GRCz11 | 17 | 20241571 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGGAGGGCCGGATAAGGGACGAGATAGATGGAAAACCCAAATCCAAG[T/C]AAGTACATTTTCAAGKTAMATGGAAATTAMGTTGCATATAATWGAATTAC
Long Flanking Sequence:
TTTTTCTTTAGTTTTATTTCATGTTAAACACTAAAAATGATTTTTAAAGCTGAAAACCGGTAAATAAACACCCGTCACAGTTTGAACAATTACAATGGAAGGCAATGGTTACCGGTTTCCATTATACATCAAAACATCTTCTGTGTTTGACAGAAGAAAAAAAACTCAAGCAGGGTTGAGACAAGTGAAGGGTGAACAAATGATTAGAAAACTTTAATATTTGGACGAGCTGCCCCTTTAAAAGAGCAGAGTGGGATTGTGGCCGGCTGCATTTGGACATGCCAGAGGGGTTGAAGTATACATTTGTACTCACCTGCTTACAGTGGTGTGTGATTAACAGGGTGTATGAGGCAGAAATTGAGGAGATTGACAATGAGAACGGCACAGCAGCCATCACCTTCGCTGGCTATGGAAACGCTGAGGTGATGCCACTTCACATGCTCAAAAAAGTGGAGGAGGGCCGGATAAGGGACGAGATAGATGGAAAACCCAAATCCAAG[T/C]AAGTACATTTTCAAGGTACATGGAAATTACGTTGCATATAATTGAATTACATTGTTGCAAGACAAAGCATGGGTTTAGTTTCAGTCAGAAATTATGAAAAATAAGGTGTTGGTAGTCCCAAGGTATATTAAAAGATCTATGCACATATGCTAGAGTAGGGTTGCACAATATATCGCTTCAGCATCGATATCGCAATGTGATCATTCGCAATAGTCACATCGCGAGTATATGCAATGTTGAGTCTGGATTTTAATCATTTTGCAAGTGTTTTTTTGAGCCCTGTGACTTTGTGAGGGGTTTAAAAACATTCAGGCATAACAAATTGTAACATAACTTTTTTTACAATTTGTTATTTTATTGATTTATTTATAAAATGAAGACTAATACAGTTATTTTACATTTGATAATTCAATCACTGTATACCTGAATACTGGTACACTCCTTGGAAAACAATACAACACTTTATTTAATTACTATCTTTTTCTTTATTGAATTTATCT
Associated Phenotype:
Not determined