Busch Lab

ZMP

lmx1b.1

Ensembl ID:
ENSDARG00000068365
ZFIN ID:
ZDB-GENE-050114-2
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
sa34444 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa41254 Nonsense Mutation detected in F1 DNA Not yet available
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.
Availability:
Order Allele From ZIRC
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:
sa34444
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000076420 Essential Splice Site 248 375 None 9
ENSDART00000098825 None None 168 None 6
ENSDART00000127460 Essential Splice Site 248 375 None 8
ENSDART00000076420 Essential Splice Site 248 375 None 9
ENSDART00000098825 None None 168 None 6
ENSDART00000127460 Essential Splice Site 248 375 None 8

The following transcripts of ENSDARG00000068365 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 34126587)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 33269313
GRCz11 8 33278545
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGAGCGTACGCGTGGTTCAAGTGTGGTTCCAGAACCAAAGAGCTAAGG[T/G]GAGTCCAGGTCTTGTACACTACAATATGAATCATCCAGTATTACCCGCGC
Long Flanking Sequence:
AGGCGACAGCACTACCTACTGCGCCACTGCCTCGCTGGTTCAAATTCTCAATTTAGCTAAATCAAGAAAGTCATGTAAGACCATGTTTTTTAATGTAAAGGTGACAGTCACATTGTGAGCCTCAGAAATTTGCACAGTCAATAAATAGTCAAATAAACAAGATATAAAGTCACATATAGTAACTGTAACTGTCATATTGTGAGAAAAAGTACTGTAGCATTTGTGAGACTTGATGTCAGTTGTGAGGTTAAGTAGTACGTACTGAGATTAATTCGCAATTACAAGACATGAAATCACAACGATGACATTGTTTAAGATAAAGTTACAATAATGAGAAAATGTCAATGCTTTGTAAATGTATTTCCAAATATTACACAGCCTCTTCAGTGAACACATAAATGATTTTTGTTTTATGCTGTAGGTAAGAGAGACACTGGCTGCAGAGACAGGTCTGAGCGTACGCGTGGTTCAAGTGTGGTTCCAGAACCAAAGAGCTAAGG[T/G]GAGTCCAGGTCTTGTACACTACAATATGAATCATCCAGTATTACCCGCGCAAACCCGATAATGTACATCCAAGGAGCAGATAACACAACAATTTGCAAGTAATCCTCCAACAACGCACTAAACTCCTCGCAAACGCTGCCAAAAGGGAAAGAGCGAGTGAGTCTCGAGACAGCAAATCTCAGTCGCTATCTGCCTGAAGCTTAACCTCTCGACGCATTCCACAAAAAACTCCCCAAGAGTTCGCGAGAGATGTATTCACATCCATCCTGCTCTTACGTTAGCGTCTGAAACCCACCTCAGAGCCCTGATTTTATCTTCAAAAGGCTGTGGATAATATAATGCAGCCAGATCAAGCTTGGCGTAGTTCAAGCAGGGGTGAACAACAAGGAGCATCTCTCTTCAGATAGCCCAGAGTTGGTCTGGGGAGTCGCGAAGTTTTCTGATTGTGCTTTTATCGTTATTTTTTCAGATGAAGAAGTTGGCGCGGAGACAGCAGCAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41254
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
ENSDART00000076420 Nonsense 256 375 7 9
ENSDART00000098825 None None 168 None 6
ENSDART00000127460 Nonsense 256 375 6 8

The following transcripts of ENSDARG00000068365 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 34126096)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 33268822
GRCz11 8 33278054
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGATTGTGCTTTTATCGTTATTTTTTCAGATGAAGAAGTTGGCGCGGAGA[C/T]AGCAGCAGCAACAGGAGCAGCAGAACTCCCAAAGGCTGGGCCAAGGTAAA
Long Flanking Sequence:
GAGCTAAGGTGAGTCCAGGTCTTGTACACTACAATATGAATCATCCAGTATTACCCGCGCAAACCCGATAATGTACATCCAAGGAGCAGATAACACAACAATTTGCAAGTAATCCTCCAACAACGCACTAAACTCCTCGCAAACGCTGCCAAAAGGGAAAGAGCGAGTGAGTCTCGAGACAGCAAATCTCAGTCGCTATCTGCCTGAAGCTTAACCTCTCGACGCATTCCACAAAAAACTCCCCAAGAGTTCGCGAGAGATGTATTCACATCCATCCTGCTCTTACGTTAGCGTCTGAAACCCACCTCAGAGCCCTGATTTTATCTTCAAAAGGCTGTGGATAATATAATGCAGCCAGATCAAGCTTGGCGTAGTTCAAGCAGGGGTGAACAACAAGGAGCATCTCTCTTCAGATAGCCCAGAGTTGGTCTGGGGAGTCGCGAAGTTTTCTGATTGTGCTTTTATCGTTATTTTTTCAGATGAAGAAGTTGGCGCGGAGA[C/T]AGCAGCAGCAACAGGAGCAGCAGAACTCCCAAAGGCTGGGCCAAGGTAAAATGTCCTGACATGAACCTTAAGGCAAACGTATCAGTCACAAATATGATTTGTCAGAGGTCAACAAGCATAAAATAACATTGTTTATTTTCAATCTGCAGTCATTTTTCTCTGCATTTTCACAATGGGGTATGTGCATACCGACTTTTAATTTCAGTCAGCCAGCCCCAGGGCTTCCAGTTAATTGTCATCCAATACAAAATCACCACGTTTAAGATCAGATTTATAAAAAAATACATAGATCTTCACTGCCTGGCTGATATAAGATATAAAGTGGGTATCAGACTAAAGAAGAGGCACTGCATTAAGTTTTATTTTTCCATGCCATGTCTTTAAAATATATTAATTTTACCCCAGTATTTTCAATAGAATTTCTGTGCTATCCTGCTGCTAATGACAACACCTGGGTTTAAACTCTTTGCACGCTTTAACAACCACATGAATGCTTAAGT
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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