Busch Lab

ZMP

spef2

Ensembl ID:
ENSDARG00000042913
ZFIN ID:
ZDB-GENE-060526-47
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.
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.
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.
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