ZMP
spef2
Ensembl ID:
ZFIN ID:
Description:
sperm flagellar protein 2 [Source:RefSeq peptide;Acc:NP_001121704]
Human Orthologue:
SPEF2
Human Description:
sperm flagellar 2 [Source:HGNC Symbol;Acc:26293]
Mouse Orthologue:
Spef2
Mouse Description:
sperm flagellar 2 Gene [Source:MGI Symbol;Acc:MGI:2443727]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45187 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa40358 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa33530 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45187
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062994 | Essential Splice Site | 668 | 1639 | 14 | 36 |
The following transcripts of ENSDARG00000042913 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 7915444)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 7883617 |
| GRCz11 | 5 | 8388255 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGCTTCATGAAAAAGAGGACAAAGAAGAATCAAAGGCAATCCCAAAGG[T/C]ACTCTCCACATGATCTCAGTATTAACTAGCATTGTGCTCGTTGATAAGCT
Long Flanking Sequence:
CACAGTTGCCTCACAGCAAGAAAGTTGCTGGTTCGAGTTCCAGCTGGATCAGTTGGCATTTTTCCCTGTGTTCACGTGGGTTTCCTACTGGTACTCCGGTTTCCCCCACAGTCCAAAGACATGCGCTATTGGTTGAATTGAATATACTAAATTGGCCGTAGTGTATGTGCGTGTATGGATATTTCCCAGTACTGGGTTGCAGCTGTAAGGGCATCTGCTGTGTAAAACGTATGCTGGATAAGTTGGCAGTTCATTCCCTGAAGCCGAAGGAAAATGAATGAATGAGTGAATGTTACAGTACTAATCCTAAAACCTTGAACGATTGTGTATTCGTTATCTTTCTAATTTAGTTTTTAAATTCATTAAGAGGTAAATACTCCATATATTAATATAATGCTACACACATTTTTTATATCTGACATCAGGACCACAGCCTCATGAGGCCTCATCTGGGCTTCATGAAAAAGAGGACAAAGAAGAATCAAAGGCAATCCCAAAGG[T/C]ACTCTCCACATGATCTCAGTATTAACTAGCATTGTGCTCGTTGATAAGCTTCATAATGTGTAACGGTCTGTTCTGCAGTGGTCATCACGAGCACAGCACGGTGCAGCGGTAGAGAAAGTTCTGAGGACAGGCCAAGCTGTTCCTGATCAGCTTCTGGTGGACATTATTGTGGATGCTATCAGGTAAAGAGATATAATGCTTTTTTCTGACTTTACAGGTTTTACACAAATAAAATGTTATTGTAGATCATCTGGTAAATATACATTTATGGAAAAAATTATTAGCCCTCCTGTGAAATATTTATTCTTTTTCAAATATTTCTCAAGTGATATTTAATGGAGCAAGAACATTTCCACAGTATTTTCTATAATATTTTTCTTCTTCTGGAGAAAGTCTTATTTGTTATATTTTAGCTGAACAAAAATGTTTTTAAACCATTTTAAGGTCAATATTATTTGCCAATATTTTTTTTCTGATTGGCTACAGAACAAACTATTATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40358
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 |
|---|---|---|---|---|---|
| ENSDART00000062994 | Nonsense | 854 | 1639 | 18 | 36 |
The following transcripts of ENSDARG00000042913 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 7920390)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 7878671 |
| GRCz11 | 5 | 8383309 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGCTTTCATCAAACATGGCCAAAACTGGAGAAGTGGTTTGGTGATCAG[C/T]AGAATATTCTGGTGAAAGTCACAGCAGGTGTGGACAAGGACACTCTCTTC
Long Flanking Sequence:
ATTATAATTTTTTCACTTATAAAATTATTTCATAAGTGAATTATTTTGCTAAAGTGAAAATTTGGGGTTTTATTTGCCGACACAATGTAGAAATTGCCACATCATTGTTATTGTCCCATCATGCAAACACACAATATAAACAAAAACACATTTTCATCAAAATTAAATTACAAATATTTGGTTCCTGAAGTGGAAAAATAAATATTTAAATAAAATCTCAAAAAACTTTATTTTATTATGACACGTTCCTAGGCTGATTGTCTATGATTCAACCAAGCATGTTTTTTCAAGAGTAAATTAACTTTCTTATTTATTGGTGTTATCATGTGGCAACATTTAAAATCCGTGTAATTCAATTGGCATCCTGCATTTTTTTTTTTTTTTGCAAGGCTCAAAAGGAGAGCTTTTGTTTGTTCAGTGCTCAATGTTATGCTTTCTTCAATAGAATCAGTGGCTTTCATCAAACATGGCCAAAACTGGAGAAGTGGTTTGGTGATCAG[C/T]AGAATATTCTGGTGAAAGTCACAGCAGGTGTGGACAAGGACACTCTCTTCAGTAACGTGGAGACTATTCTGAGGGACACTATTGAGTCTGTTGAAAAAGGTATATTTAAAAATTGTCATAATTTAATCAACTTCACATTCCAAACCAGTAATGCTTTGACTTATCTTCACAAGTTTGTGTGGATATATTACTTAATTATATACATTTGTATGCAATTTATTCAGCTTGAATTGCAACAGACACATTAAAATGTTTTATGAATGATTTGAAAGCTTGAAAGTCACTTTTTTCTTCTTAAAACTTTGTTTATTCTTTTTTTATTATCCGCAAGTAGAAATTGGAAATGAAAGTGGAGATTTATGTTAAAAATGGAAGCCCTATGTTAACAGTGTCCAGACATTACATTTATCAATAGAGAATTAAACAGAAAGCTCACGTTATTAGTGAAGATTGTTTCCATCCTTCAAATATAAAATTTCAACATCGTCACATATATTACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33530
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 |
|---|---|---|---|---|---|
| ENSDART00000062994 | Essential Splice Site | 1455 | 1639 | 32 | 36 |
The following transcripts of ENSDARG00000042913 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 7940689)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 7858372 |
| GRCz11 | 5 | 8363010 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACCCAACTGAACCCGTGCCCTATGACAGATTGGCCAACCTTAAAAAGG[T/A]AAAGCGTTATGTTAAAGGCTTCTTCTGTCTGTATTTTGCTTCTGCTATTT
Long Flanking Sequence:
GTTGAAGTACATCAACATACTGAAATAAAAGTCTCAGCATCTTCCGGTTCATGCTGACTTTCAAGGATAGTAATTTGTGGCATTTGATTATCCATTGTTTGTTAAGTGCCACTGCACATTGCACATGGGTATACAATATTGGATTAACACCACAAAAGTGGTTTCATCACCCCAGGTAAAAAGCTGTGCTGATCTGCTTTCTAAATTTAAAGTGTGAAATGTTTCTTTGATCAATATTAAGAGCTGTGTTTAGAATAATTAGGAAAGGGCTAGATGTCCTATTAAGTGTTTTAAAAAGTTTTTTTTTTGGTGCAACCATTACACAGAATTTTAATGATCCAAATACTGTTGTGCATATTCCAGCATATCTATGAGTTTGATTTAATAAGTTTTTTTTTATGATCAGGTTGAATTATGGTTTCCCAGTGAACAAGATCCTTCTGTCCCTGATGACCCAACTGAACCCGTGCCCTATGACAGATTGGCCAACCTTAAAAAGG[T/A]AAAGCGTTATGTTAAAGGCTTCTTCTGTCTGTATTTTGCTTCTGCTATTTACATCTCTTTTGCAAAGACGATATGTGGAGGAAGTAGCACATCAAGCTTTTTAACCCCTTTTTTGACCACTTTACAAAAAGGTTCCAATATTAAATATGAATGTATTAACATGATCAAACAATAGATTTATTACAGTATTAATTAATCTTTGTTAATGTCAGTTAATGACTAAAGTTGTTCATTGTTCTTTTTAACTCACAGACAGTGCCTTATCCAATGTTAACAAGCTCAACTTTAGACTTTAGTAATGCATAAGGACATACTTATGCATTACTAAAATTTAAAGTACTGTCTATAAATGTTGATATATGAGTAATAAAAGAAGTATTGTTCAGTTTTATTTTATGGTATTTTATACATTAAGTAGCATTAAATAATGAAACAGCATTTTGCTTCACAACATTCTATAATTAATAGACAGGAGTCTTGTGGATTACTTGTAGATTATT
Associated Phenotype:
Not determined