Busch Lab

ZMP

smtna

Ensembl ID:
ENSDARG00000074652
ZFIN ID:
ZDB-GENE-091204-245
Human Orthologue:
SMTN
Human Description:
smoothelin [Source:HGNC Symbol;Acc:11126]
Mouse Orthologue:
Smtn
Mouse Description:
smoothelin Gene [Source:MGI Symbol;Acc:MGI:1354727]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa41590 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa30933 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa41589 Nonsense Mutation detected in F1 DNA Not yet available
sa30932 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa41590
Status:
Mutation detected in F1 DNA
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
ENSDART00000111065 Essential Splice Site 64 271 2 7
ENSDART00000145480 None None 197 None 7
ENSDART00000111065 Essential Splice Site 64 271 2 7
ENSDART00000145480 None None 197 None 7

The following transcripts of ENSDARG00000074652 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 6916532)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 7929332
GRCz11 10 7888032
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGAAAATGATCCGGGCTGCCATGAGAGAACTGCTCAAGAGGAAGAGGG[G/A]TGAGGACTGGGCCATGTCCCTAATGTCACTTATTTAATATATACAGCTGA
Long Flanking Sequence:
TGCAAAACTATAAAACCTTCTCTTTAAGATCTCTGAAAATATCTCTATACTAGTAGCTCTTGCACAAGCGTTCCCTCATTTTTTGTCTCTATAAAAGTCCTTCTCGTTCCCACGCACACATGGAGACACACACGCACATCTCGTAAGCTGGCTCCATCAACACCTCCTGTTCCTCCTTCTGTCCCAGCTGTCACTGAAGATGGAGGCTGAGAAGGGAACATTAGAGGCAGGTACCAAAGAGCAGGCCGATACCATGGGTCAACTGACAGCAGAACAGCTGGCCGCTATAGAGGATGAAGAGATCCTCAATAACATGGTAAGAGGCCACTGACGGCGCTACAGGCGGAGCTGGGTTTGTTATCACGGTTTGTCTTGACCATATTTAGGAAAAAAGTGTTTCCCTTCTGTTTATCGCATGTAATAGCTAGATAAGGCTGTGGATTTCGAAGAGAGGAAAATGATCCGGGCTGCCATGAGAGAACTGCTCAAGAGGAAGAGGG[G/A]TGAGGACTGGGCCATGTCCCTAATGTCACTTATTTAATATATACAGCTGAAGTCAGAATTATTATTATTATTATTATTAGCCCCCTGTATATATTTTTTTCTCCAATTTCTGTTTAACAGATTTTTTTGGGCACATTTCCAAACATAATGGTTTTAATAGCTCATTTCTAATAACTCATTTCTTTTATCTTTGCCATGATGACAGTAAATAATATTCAGTAAAGTGAATATTAAAGTGCCATTTAAAGGCTTAACTAGCTTAATAAGGCAAGCTTTTTAAGTAATTTGGCTTGTCGTTGTATAATGATGGTTTGTTCTATAGACCAGGGGTTCCCAAACATTTTAGCCAGTGACCCCCAAAATAACAATCCAAGTGACTTGCGTCCCCCAATATTCTCTGAGGTGGTTATAGATATATAATCCTTGCACACAATGACCCACACAAACCAATAGGCCCAAGTCTATTCATCGTTTATTTTGGAGAACGTCACTCGGAGACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30933
Status:
Mutation detected in F1 DNA
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
ENSDART00000111065 Essential Splice Site 64 271 2 7
ENSDART00000145480 None None 197 None 7
ENSDART00000111065 Essential Splice Site 64 271 2 7
ENSDART00000145480 None None 197 None 7

The following transcripts of ENSDARG00000074652 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 6916532)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 7929332
GRCz11 10 7888032
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGAAAATGATCCGGGCTGCCATGAGAGAACTGCTCAAGAGGAAGAGGG[G/A]TGAGGACTGGGCCATGTCCCTAATGTCACTTATTTAATATATACAGCTGA
Long Flanking Sequence:
TGCAAAACTATAAAACCTTCTCTTTAAGATCTCTGAAAATATCTCTATACTAGTAGCTCTTGCACAAGCGTTCCCTCATTTTTTGTCTCTATAAAAGTCCTTCTCGTTCCCACGCACACATGGAGACACACACGCACATCTCGTAAGCTGGCTCCATCAACACCTCCTGTTCCTCCTTCTGTCCCAGCTGTCACTGAAGATGGAGGCTGAGAAGGGAACATTAGAGGCAGGTACCAAAGAGCAGGCCGATACCATGGGTCAACTGACAGCAGAACAGCTGGCCGCTATAGAGGATGAAGAGATCCTCAATAACATGGTAAGAGGCCACTGACGGCGCTACAGGCGGAGCTGGGTTTGTTATCACGGTTTGTCTTGACCATATTTAGGAAAAAAGTGTTTCCCTTCTGTTTATCGCATGTAATAGCTAGATAAGGCTGTGGATTTCGAAGAGAGGAAAATGATCCGGGCTGCCATGAGAGAACTGCTCAAGAGGAAGAGGG[G/A]TGAGGACTGGGCCATGTCCCTAATGTCACTTATTTAATATATACAGCTGAAGTCAGAATTATTATTATTATTATTATTAGCCCCCTGTATATATTTTTTTCTCCAATTTCTGTTTAACAGATTTTTTTGGGCACATTTCCAAACATAATGGTTTTAATAGCTCATTTCTAATAACTCATTTCTTTTATCTTTGCCATGATGACAGTAAATAATATTCAGTAAAGTGAATATTAAAGTGCCATTTAAAGGCTTAACTAGCTTAATAAGGCAAGCTTTTTAAGTAATTTGGCTTGTCGTTGTATAATGATGGTTTGTTCTATAGACCAGGGGTTCCCAAACATTTTAGCCAGTGACCCCCAAAATAACAATCCAAGTGACTTGCGTCCCCCAATATTCTCTGAGGTGGTTATAGATATATAATCCTTGCACACAATGACCCACACAAACCAATAGGCCCAAGTCTATTCATCGTTTATTTTGGAGAACGTCACTCGGAGACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41589
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111065 Nonsense 189 271 6 7
ENSDART00000145480 Nonsense 115 197 6 7
ENSDART00000111065 Nonsense 189 271 6 7
ENSDART00000145480 Nonsense 115 197 6 7

The following transcripts of ENSDARG00000074652 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 6909638)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 7922438
GRCz11 10 7881138
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGAACATCCAGAATTTCTCCTCTAGCTGGGCTGACGGTCTGGCCTTTTG[T/A]GCACTGGTGCACAGGTTCTTTCCAGAGGGCTTTGAATATTGTACTCTTAA
Long Flanking Sequence:
TTGACAACCTCCATTTCTTTTTGTACTTTAATATAGGAACAGCTCAGGCAAAAACACTTTCACAACCAACCTCAGTTTCCTCTCCGAAAACGGTGAGCAGGTGAGTCACTGCTAGAGGGACGTCAGGACGCCAGCATTAGGACGCATCCCGTTGACTGATGTTTTTTTTTATTTTTCCTTCTGAAGCCCGGCTCAGTCCCATGTGGCCAGGGTTAAAATGTCTGGCGGTTCGGCAGTCGGAGGCCCAAACACCAAAGATGTCAAACAGATGCTGCTGGACTGGTGCCGTGTGAAGACTGAGCCATATGAGGTGAGCCTAAAGAGACAAAATCACATTCAATCAAACACTCGATCTGTTTTGTTAAATGTGTGACTCTCTGTGTGAGTCTCGAAAACATGTTTTTATCCAGCTTTGATTCACCCTCTTAAACTTGTTTGTGTGTTTAGGGTGTGAACATCCAGAATTTCTCCTCTAGCTGGGCTGACGGTCTGGCCTTTTG[T/A]GCACTGGTGCACAGGTTCTTTCCAGAGGGCTTTGAATATTGTACTCTTAACCCTTATGACCGCAAATCCAACTTTGAGAAGGCATTCAAGACTGCAGAGTAAGACTTTGAGACTAAGCTTTGTTTTTCATATATATATATATAAACAAACACAGTTGAAGTCAGAATTATTAGCCCCTCAGTACATTTCTGTTTAACGAAAGATTAAACAGAAATTTACTGTAAAATATTGTGTGATTTTTTTTTCAACACAATTCCAAACATAATAGTTTTAATAACTAATTTATTTTATCTTTGCCATGATGACAGCACATAATATTTTACTTGATTTTTTTAAAGATACTAGTATTCAGCTATTCAGGGACATTTAAAGGCTTAACCATAAGTAGACAAGTTAGGGTAATCATATGTTTCATAAATCATAAATTTGATGATTTAAAAATGTAGAATTAAAAGAAATATCATATTATATATTGCAAGTTTTATTATATTATTATTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30932
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111065 Nonsense 189 271 6 7
ENSDART00000145480 Nonsense 115 197 6 7
ENSDART00000111065 Nonsense 189 271 6 7
ENSDART00000145480 Nonsense 115 197 6 7

The following transcripts of ENSDARG00000074652 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 6909638)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 7922438
GRCz11 10 7881138
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGAACATCCAGAATTTCTCCTCTAGCTGGGCTGACGGTCTGGCCTTTTG[T/A]GCACTGGTGCACAGGTTCTTTCCAGAGGGCTTTGAATATTGTACTCTTAA
Long Flanking Sequence:
TTGACAACCTCCATTTCTTTTTGTACTTTAATATAGGAACAGCTCAGGCAAAAACACTTTCACAACCAACCTCAGTTTCCTCTCCGAAAACGGTGAGCAGGTGAGTCACTGCTAGAGGGACGTCAGGACGCCAGCATTAGGACGCATCCCGTTGACTGATGTTTTTTTTTATTTTTCCTTCTGAAGCCCGGCTCAGTCCCATGTGGCCAGGGTTAAAATGTCTGGCGGTTCGGCAGTCGGAGGCCCAAACACCAAAGATGTCAAACAGATGCTGCTGGACTGGTGCCGTGTGAAGACTGAGCCATATGAGGTGAGCCTAAAGAGACAAAATCACATTCAATCAAACACTCGATCTGTTTTGTTAAATGTGTGACTCTCTGTGTGAGTCTCGAAAACATGTTTTTATCCAGCTTTGATTCACCCTCTTAAACTTGTTTGTGTGTTTAGGGTGTGAACATCCAGAATTTCTCCTCTAGCTGGGCTGACGGTCTGGCCTTTTG[T/A]GCACTGGTGCACAGGTTCTTTCCAGAGGGCTTTGAATATTGTACTCTTAACCCTTATGACCGCAAATCCAACTTTGAGAAGGCATTCAAGACTGCAGAGTAAGACTTTGAGACTAAGCTTTGTTTTTCATATATATATATATAAACAAACACAGTTGAAGTCAGAATTATTAGCCCCTCAGTACATTTCTGTTTAACGAAAGATTAAACAGAAATTTACTGTAAAATATTGTGTGATTTTTTTTTCAACACAATTCCAAACATAATAGTTTTAATAACTAATTTATTTTATCTTTGCCATGATGACAGCACATAATATTTTACTTGATTTTTTTAAAGATACTAGTATTCAGCTATTCAGGGACATTTAAAGGCTTAACCATAAGTAGACAAGTTAGGGTAATCATATGTTTCATAAATCATAAATTTGATGATTTAAAAATGTAGAATTAAAAGAAATATCATATTATATATTGCAAGTTTTATTATATTATTATTATT
Associated Phenotype:
Not determined