ZMP
lmx1b.1
Ensembl ID:
ZFIN ID:
Description:
LIM homeobox transcription factor 1, beta 1 [Source:RefSeq peptide;Acc:NP_001020338]
Human Orthologue:
LMX1B
Human Description:
LIM homeobox transcription factor 1, beta [Source:HGNC Symbol;Acc:6654]
Mouse Orthologue:
Lmx1b
Mouse Description:
LIM homeobox transcription factor 1 beta Gene [Source:MGI Symbol;Acc:MGI:1100513]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa34445 | Essential Splice Site | Available for shipment | Available now |
| sa14923 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa34445
Status:
Available for shipment
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:
Mutation:
A > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000076420 | Essential Splice Site | 86 | 375 | 4 | 9 |
| ENSDART00000098825 | Essential Splice Site | 41 | 168 | 4 | 6 |
| ENSDART00000127460 | Essential Splice Site | 86 | 375 | 3 | 8 |
The following transcripts of ENSDARG00000068365 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 34133734)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 33276460 |
| GRCz11 | 8 | 33285692 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACATTTACACATTGTTTTTTTTTGTTTTTTTTTTCTCGTTGTCACTTC[A/C]GGTTATTTGCGACCAAATGCAGCGGATGCCTGGAGAAAATTGCACCTACA
Long Flanking Sequence:
GTATTTATTTGTTTGTTTTTTTGTTTGTCTGCTTGTTCAATTGTTTATTTTTTTATTTATCATTCTTTATTTTGTAACATATTAGAAAAAAACACTTAAAATCAGCAAGGATTCCTACAAATTTGTCAAAATAAATGACATTTATAATGGTATATTTGAAAGAAATGCATTTTAAAAGCTTCAATAAAAATCTTTTCTTCAATTACAATTCTTGTTCAAATTTGAATTACATATGTTATATACAGTGCCTATAGAAAATCATCATACACCTTCAAAAAATTACTTATTATTTGTCATAAAGCTTAAAATTAAATCGCGTTGCAGATAACGTTTCCAGCCTTTGAAATGTTTTTGTAGCCTTATCCTAGTCTGTTCTTTTCTACGACTTTATCCCAAAGTTCTTTTGAAAGCAGGGTAAAGGTATAGATTTTCACACATTTTTACACTTTCACACATTTACACATTGTTTTTTTTTGTTTTTTTTTTCTCGTTGTCACTTC[A/C]GGTTATTTGCGACCAAATGCAGCGGATGCCTGGAGAAAATTGCACCTACAGAATTTGTGATGCGGGCGCTGGAGTGTGTTTACCATCTCAACTGCTTCTGCTGCTGTGTATGTGACCGACAGCTGAGGAAAGGAGATGAGTTTGTGCTGAAGGACGGACAGTTGCTGTGCAAGAGCGATTATGAGAGGGAAAAAGACCTGCTCGGCTCTGTCAGCCCAGATGACTCAGATTCAGGTATGAAAACATTTACTGTCAATGTGTCTGGGAATGTATGATACAGAGCCAGTGGGTTACTTTAACCTCATTGGTTTTCATTGGACGGACAATATAGAAAATTACATAACACTACTAATTGTCTTTATTCAAACTCTTCTTTGATAATCAGTTACCTAATTTCAGGTATGTATATATAATAATGAAGTACTAAAGGTGATGTTTTTCCCATAGTTTTTATTTTTTTTAAGGTTTGCATATCAAAAATAACACTGACTACGTTTACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14923
Status:
Available for shipment
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:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000076420 | Nonsense | 323 | 375 | 8 | 9 |
| ENSDART00000098825 | None | None | 168 | None | 6 |
| ENSDART00000127460 | Nonsense | 323 | 375 | 7 | 8 |
The following transcripts of ENSDARG00000068365 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 34115079)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 33257805 |
| GRCz11 | 8 | 33267037 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGCAGGGCCTCACCCCTCCTCAGATGCCCGGTGACCACATGAACCCATA[T/A]GGTGAGCATCAACCATTGAGTTGTGTCATRTTAGMGTGTGTGTGTGTGTG
Long Flanking Sequence:
CCTCACCCATTCAAACGCTCAGTGTTGTAAAGAGTGTCGCTCAGTTAAGGCAAATGTCATACACTTACAGGATGCCTAGAAACACAAGAACACTTTTTACAAGATGTATGTGAACACAGATTCTGAAAAATCACTGAAGGTGTGAAAATCAAATCCCAAATTAAACTAACCTGGTATTTTACAGAATTTCTATGTGAAAGTAGCTTGAGATGTCTCTGAATTCCCTGAATCTCTTAACAATAACATATATGGTACTGTAGTTGGGGAAAGACCTGAATTGTTTGTGGTTTTGCATTGAAAACTGTGATTACTAATCAATGCTCTCTTTTTCCCACTATTTCAGAGGTAATGTCCAATCGGATGGAGGGTATGATGAACTCCTACACACCATTGGCTCCAGCCCAGCAGCAAATGGTTGCACTGGAGAACGGCTACAGCACCGACCCCTTCCAGCAGGGCCTCACCCCTCCTCAGATGCCCGGTGACCACATGAACCCATA[T/A]GGTGAGCATCAACCATTGAGTTGTGTCATGTTAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGGACCACAGGCTTCACTGAATGAAAGCGTACCACCCTTCTTTCCTCATGAGATTACACAAACGCACCACTTTATTTTGAAGTTTGCCTTCCAAATGAATCCAGCGTGTTTTAAAACCATACTGGCCACGTCCCACGTTCCCAGAGCTGCCCGTTGGGTTTATTCTCAGGGATTAATGGTGTAGTCTGTTATGCTGTGTGACACCATCTATTGGATGTTTCATAAAGAGCCGAACGATGATCTGCGGTGCACCATGTAACAACAACAATGGTTAACCATGATGGCTGACGCTCAGAGTATCATGGGAAAGCATCCACTGGTCTGCCAGCAAAACAACACAATGAGCTAAAACCATTGAGGGTTGGCCACATGTG
Associated Phenotype:
Not determined