ZMP
ndufaf1
Ensembl ID:
ZFIN ID:
Description:
complex I intermediate-associated protein 30, mitochondrial [Source:RefSeq peptide;Acc:NP_001013326
Human Orthologue:
NDUFAF1
Human Description:
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 [Source:HGNC Symbol;Acc:18828]
Mouse Orthologue:
Ndufaf1
Mouse Description:
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 Gene [Source:MGI Symbol;Acc:MG
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42242 | Essential Splice Site, Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa42242
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:
Essential Splice Site, Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000035940 | None | None | 304 | None | 4 |
| ENSDART00000131985 | Essential Splice Site | None | 184 | None | 3 |
| ENSDART00000132834 | Essential Splice Site | None | 172 | None | 3 |
| ENSDART00000136356 | Splice Site | None | 290 | 2 | 5 |
| ENSDART00000141912 | Essential Splice Site | None | 95 | None | 4 |
| ENSDART00000144379 | Essential Splice Site | None | 304 | None | 7 |
| ENSDART00000148368 | Splice Site | None | 32 | 3 | 3 |
The following transcripts of ENSDARG00000025549 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 33471758)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 33117706 |
| GRCz11 | 13 | 33248156 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCATATACGATTTTACTGTTTGTTATAAATGTTTTTAATTTTTTCAGC[A/T]GTCTTCTGGATGTCTAATCTGATCCCAAGAGCTACCCAGACTAAATGGCT
Long Flanking Sequence:
AGTAACCATTGAGTAAAAGGGTCGTAAATTTAAAATTTGTGTGAACTATTCCTTTAAATCAGAACAGGAAGTATTACATTTATAAAATAAAGTATGGGTGACTCGGTGGCTTGTCGCCTCACAGCAAGGTCACTGGTTCAAGTCCTGACTGGGTCAGTTGGCATTTCTGTGTGGAGTTTGCATGTGCTCCACGTGTTGGTGTGGGTTTCCTTTGGGTACTCTGGTTTCCCCCATAGTCCAAAGACATGTGCTATAGGTGAATTGAATAAGGTAAATTGTCTGTTGTGTGTGCGTCTGAGTGAGTGTGTATGGATGTTTTTCAGTACTGGGTTGCGCTGTGTAAAACATATGCTGTATAAGTTGGCGGTTCATTCCACTGTGACAACCCCTGACAAATAAAGAAACTAAGCTGGAATGAAAATAAATAAATGAAAATAATGGCTCTAAATGATGCATATACGATTTTACTGTTTGTTATAAATGTTTTTAATTTTTTCAGC[A/T]GTCTTCTGGATGTCTAATCTGATCCCAAGAGCTACCCAGACTAAATGGCTGTATCGAGAACAACACTCAAGTCCCTGTATGGAGTTTGTGGAGTGGTTTACAGACAGCCTCTGTTGTTCCCTTCCTCACTCAAATGTGCATCTATACAGATCACCAGGAGCAAGTTTGAGCGAGATTACCAGAGACCCGGTCAGCCTCCAGACACACGCTGGCCTTGGCAGATGATAAACTTTGATTTCTCCAAAGGTGTGGAGAGTGTCAGGAAGCACTTTGGCTTGTTAAAGGATGAGTTTTTCCAGCGCTGGATTGGACCGGAAGGAAAGCCAATAATAGAGCACATGCTGGAACAGACCCGTGTCGTGTGGGAGTTTCGGGGTCCTGAGAGTCTAAATGAGTGGATTGTGTCATCTGATCAGGAGATTGGGGGCCGCAGTGTGGCTTATGTCAGTCTGGGCAAAAACAACACCACGTGTTTGCTGTATGGGACCTTGAGCTCCACC
Associated Phenotype:
Not determined