ZMP
mmab
Ensembl ID:
ZFIN ID:
Description:
cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial [Source:RefSeq peptide;Acc:NP_0010
Human Orthologue:
MMAB
Human Description:
methylmalonic aciduria (cobalamin deficiency) cblB type [Source:HGNC Symbol;Acc:19331]
Mouse Orthologue:
Mmab
Mouse Description:
methylmalonic aciduria (cobalamin deficiency) type B homolog (human) Gene [Source:MGI Symbol;Acc:MGI
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45193 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa6965 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45193
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
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000098795 | Essential Splice Site | 88 | 233 | 4 | 9 |
The following transcripts of ENSDARG00000068344 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 21276648)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 18989520 |
| GRCz11 | 5 | 19493320 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAATGATGAATGCAGTAGATTTCCACCAATAAAATGACTCTGTGTCTTTC[A/T]GGTTAGCACGAGAATTTTGCATTGACAGCGGCCATTCATTCACAGATCAG
Long Flanking Sequence:
AACGACAGTGCATTGTTTTAAATAGTATGCATATTAAAGGCATTCTCTTACTTTCCCAAGATATGCCAGCAGTACATCAGAGGAAAACAGAAGAATTCCCAAGATATACACTAAAACTGGGGATAAAGGTTATTTACGTTCATATTATAAGCATATTTTGTCTTGACAGCTCATATTGTAGTTTAAACGATCAACATTATGTTTACTAAATATGTGATGCTGCTGCAGTTGCATGTCAAATTGAAAGTCCCATCCGGGTTTGTGTAAACATTGGCTTGCTTCCATTGTCTCGCCTCATTAGGTTTCTCCAGTACCTTCACAGGTGAGAGGAGACCCAAGGAGGATCATATATTTGATGCTTTGGGAACAACAGATGAATTATCATCAGCAATAGGGTAATAGATAGAGTTAATGAAGCGCAATGTGCTGGACAAATGACTTTTAGGTCTAAAATGATGAATGCAGTAGATTTCCACCAATAAAATGACTCTGTGTCTTTC[A/T]GGTTAGCACGAGAATTTTGCATTGACAGCGGCCATTCATTCACAGATCAGCTGGAGAAGGTTTGCCTCACAGTTACTTTTAAAGGGATAGTTCACCCCAACACAGTGTAAATTTGTTGTTAATTTACTCACTCATGTAAGGGTCTTTTTGGTCACACTACTACTCTCGCTATTAAAAAACATGAGCTATTACTTTTAGCTAAATAAACTTCCATTTTGGTGCTTATTAATAGTTATTAATGAAGTAGTTGGGATTAGGTAGTGGGTGGGATCAGGGATGTAGAATAGAATTGTGAAGAATATGTACTACTAATAATAAACAACCAGTATTGTAATAACAGGCAGGTAAATAAGCCACTAATAAATAGCAAGAACTGGTAATTAAACGAAAGTGTTACTGACTTCTTTCTTTAGATGAACATTAAAGAGTTTAAAGCTGAAACTGAGGTCTTTGGTGATTCAGTAAATGCAAATCAATTGTTACTGGCACAACACCTACAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6965
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 |
|---|---|---|---|---|---|
| ENSDART00000098795 | Nonsense | 232 | 233 | 9 | 9 |
The following transcripts of ENSDARG00000068344 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 21273097)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 18985969 |
| GRCz11 | 5 | 19489769 |
KASP Assay ID:
554-5411.1 (used for ordering genotyping assays)
KASP Sequence:
CTAGATATGCTGCAATGAAAGAYGGTAATGCAGAAACCATYTACAAAAGG[C/T]AGGAMTAAAGGACGAAGACAGCAAACTTGAATTTGAACAATTTGTTTATG
Long Flanking Sequence:
TATATAATCTCCACGATGGTCCTCACAATCAATCACTGAGAGAAAGCCATTTCATCTCTTGTTCATTTTGCAGTCTGGCGGTAAAAGCAGTGCAGCTCTACATGTGGCCAGAGCAGTGTGCCGAAGAGCTGAACGCTGGTCAGTTGAATATATATATATATATATATATACACATACACATATACATACATACAGGCATACAGAATATTCATATATACAATTAATTTATTAGACTTGCATTACTTTATAGCTGTGTTCATATTAAATATATCTATTGCAGTGTCGCTCCTGTTGTCCGTTCAGGTGAGACAGATCCTGAAGTTGCCAAATATCTGAACAGGTATGATGAGCATATTTTAACCATATGTTTGTATAAGGATACATAAAAGTCATGTCAGTAAAAAAAGATTGCTTCTTTCTGCAGATTGAGTGACTACTTGTTCACAGTGGCTAGATATGCTGCAATGAAAGACGGTAATGCAGAAACCATTTACAAAAGG[C/T]AGGAATAAAGGACGAAGACAGCAAACTTGAATTTGAACAATTTGTTTATGTTTATTTATATGTGCGCATTTGTGTACGTGTATTCAAACACTTTAGGGATCAATAATCATTAAGGCAATGTCTGTTCTAGATACTTTACTGATAATAGTCCTGTGGAATTATTAAAATATCAATTACATTTTGATGGAGTGGCTGAAAATATCTGATTTAAACTTTATGCTAACTACATTCATGTTCACAACTACTAACTAAGTTAAGAAAGGTACATTTTATATGGAGGAAATACTGTGGCAAAATAGTCTCTATCCTGAAAACTATGATTCTTTTATCAGATCAATATATTAATACAAGGGTTCCCACTTCAAGCCAAATGTCAAATTCACTGACCTTTCTGTGATTTTACTGACTAAAAAGCTGAATTTCCATGACCTATCCACCTTATGTCTGACGTATGAGTGGCACAGCCATTGTAACTTAAATGTTTCAGGACTTCTATCCCT
Associated Phenotype:
Not determined