ZMP
DEF6 (2 of 2)
Ensembl ID:
Description:
differentially expressed in FDCP 6 homolog (mouse) [Source:HGNC Symbol;Acc:2760]
Human Orthologue:
DEF6
Human Description:
differentially expressed in FDCP 6 homolog (mouse) [Source:HGNC Symbol;Acc:2760]
Mouse Orthologue:
Def6
Mouse Description:
differentially expressed in FDCP 6 Gene [Source:MGI Symbol;Acc:MGI:1346328]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39353 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa29683 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39353
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 |
|---|---|---|---|---|---|
| ENSDART00000065377 | Essential Splice Site | 79 | 615 | 2 | 11 |
Genomic Location (Zv9):
Chromosome 22 (position 960621)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 963533 |
| GRCz11 | 22 | 980431 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCCAGCCAGGGGTACATGCCCTACCTGAACCAGTTCATTCTGGACAAG[G/A]TGCAAAACAACACACACAAATACACACACACAAACACACACACTTTTTTT
Long Flanking Sequence:
GATCTGTTGTGGTAATTCTACTGTTGCTATGGTAACACAACACCTATAGCAAGTGATCTGTTGTGGTGATTCTACTGTTGCTATGGTAACACAATACCTATAGTGAACTGTGCTTTTAAGACTCTTCATGCCCTCATTTGCATATGTGAGATTGTGTAACTGTTGTTTTAGTTAATCTGTTTCACACTCTGAGGCTTTACTCGGATCAACACCAAAACAAAAGCTGCAGTCAGTCTGTTTGTGTGTACGTCTTTATATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTTTGTCTTTGAGACCAAATCCCCCCACAAGCATAGCTAAACTGGTAGTGTGTGTGTGTGTGTGTGCAGGTTTTGTCTCATAACCTTCACAGTGTGTTGCGGATCCCTCATGACCCCGCGGCCCTTGAGAGACACTTTAGCGATGATGACGACGGCCCCGTGTCCAGCCAGGGGTACATGCCCTACCTGAACCAGTTCATTCTGGACAAG[G/A]TGCAAAACAACACACACAAATACACACACACAAACACACACACTTTTTTTCCTTCTATAATAAATGACATGCGTTTAAGAAGATGCAACAAGATTAAGTAGCCCCACCTTAAAAGATTAATAGCCCCGCCCTAAATGACAGGTAGTCACTCCCTAATGGGCAGGTAGATCTGCCCGAAATTACATATAGTTACGCCCTAAAGGACTAGTAGCTCCACCCTAAAGGACTGATAGTCACACCCTAAAGGACTAATAGCTCTGCCTTAAATGACAGATAATTACGCAATAAAGGAGTAGTAGCTCCACCCTAAAAGAATGATATTCAATCCCTAAAGGAGTAGTATCTCCGCCCTAAATAACAGATAGTCACACCCTTAAGGACTTGTAGCTCCACCCTAAATGACATTGTCACGCCCTAAAGGACTAATAGCTCCACCCTAAAAGACTGATAGTCACGCCCTAAAGGACTAGTATCTCCGCTGTAAATCACAGATAGTCACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29683
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000065377 | Nonsense | 529 | 615 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 22 (position 972634)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 975546 |
| GRCz11 | 22 | 992444 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGATTTAGCAGCATATTCATGAGTTTATCCATCCGCAGGCTGCTCAGCGT[A/T]AACTCCGGCAGGCCAGTACGAGTGTTAAACACTGGAACGTCCAGATGAAC
Long Flanking Sequence:
GCTGATTGGATGTAGTAAAGTAGGTGTTTTATTCAGAAAGATGAAGAAAATGGTTTGGAGAGAGCTATTACAACCTAACAGACTCCTCCTGCTCACCATTTCTGTTCGATGTCCAAACTGACAGCTAGAGGGGCGTGGTTAAGCATGTTAGCCACGCCCAATACTTCAGACAGACCTAATCTGAGAATTGAACCGAAAATTCAGATTTTAGTTCAAGATTATAAGGGTAAACATTATTTTTTTTTCTTAATGACATGCACAGATGATTCATTCATCACTAGCAATGAGAGCTAACCAAATCAGTATGGTTAGTTTTGATTTCATTTGTACTTTTAAGTTTTAATTATTGAATTTTTTTAACGCCAGAACAGCTTTATGAATGATTTACACAAGACCTCATTGTGTTTGTGTTTGGTGAATGAGGATCAGTGTTCTGACAGCATGTTTTTTTGATTTAGCAGCATATTCATGAGTTTATCCATCCGCAGGCTGCTCAGCGT[A/T]AACTCCGGCAGGCCAGTACGAGTGTTAAACACTGGAACGTCCAGATGAACCGCCTGATGCACCCCATCGGCCCTGGAGGTTTGTTCATTTTTACACCATTGCTGAAAAAACAGTGAAACTATTTTTAAAATTCAATAAAAACACAATAGAAACTGTCACAGAAGTTCTAATGGTTTCCACTGCGAACATCATTAAAACTATTACAAGCCTTGAAATTTTAGCCATTAAAACTAGTACATTATTGTCACGATCACCAGCGATCCCATCCTTGCAGATCACTGGAGAGCTACACACCTGTCACTGAACTGGACTACAGATACCATCTTGCCCCTCACACACACACCAGTTCCTGATTCCCCCCGATTACACACACACAGCTGGTAGCTCTTCATTGACTGATTACCTGGACATCCAAATGCAGCGTCTTTATTATCAAGAGTAGTCAGGCAAGCAATGGTCACAAGCAGGAGCAAACGGTAGCATAAAGAGCAATCCAAAAA
Associated Phenotype:
Not determined