Busch Lab

ZMP

LOC568340

Ensembl ID:
ENSDARG00000060868
Human Orthologue:
MBTD1
Human Description:
mbt domain containing 1 [Source:HGNC Symbol;Acc:19866]
Mouse Orthologue:
Mbtd1
Mouse Description:
mbt domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2143977]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa2643 Nonsense F2 line generated Not yet available
sa22144 Essential Splice Site Available for shipment Available now
sa42070 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa45467 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa2643
Status:
F2 line generated
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
ENSDART00000086087 Nonsense 150 705 4 17
Genomic Location (Zv9):
Chromosome 12 (position 35049446)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33453555
GRCz11 12 33554538
KASP Assay ID:
554-2918.1 (used for ordering genotyping assays)
KASP Sequence:
AGCCGTTAATGGCAAAGTTGGCAGCTTATGCACAGTATCAAGCAAGTCAA[C/T]AGAACCAAGCTAAATCAAAATCAGGTAAAATGGCTTATTTTAGTGTTNNN
Long Flanking Sequence:
TTATTTGGTTAGAAACTTATCAAAATCTACATAAATTATTTGTAAAACTTAAAAATGTCTTTACTATTGATCAATGATTGATACTACGATCAATGCTGTTATTTTACATAAAAATATATCATGGTTTCTACAAAAAAAAAATATAACTGTTTAAATACAAGTACTATTTTTCATGGCTTACCAGTGAGAGGACAAGAATGTGAATGGCAGTGTGTGATGTTTTACAGATTTTACACTATTACATTTGCTCAATAGATTATCAGATATGTGTAGATATTATTGAAAGCCTAAAAGCCTTTAGATTTAGAACAAAGTTCAAAGGAAACATAATCAAAACGTGCTGTTGTTCCTTCTTTTTCTCTCTGTCTGTATTTTTAAGATTGTGTGGGTTCTTCTTGTGTCTTTTCAAGGGTAAACCACCAACGAAAAAGGCAAAAGTCTTACAGAAACAGCCGTTAATGGCAAAGTTGGCAGCTTATGCACAGTATCAAGCAAGTCAA[C/T]AGAACCAAGCTAAATCAAAATCAGGTAAAATGGCTTATTTTAGTGTTGTTATGTAATTATATGCCTGAATGATCTGTTCTAGCAATCATATTCCACAACACCATTTTTTTTCCTCTTGAAGTGGTTCCTGTTGAAGGCTTTGACTGGGGCCAGTACATTTGTAGCAATAATTTAGTTGGGGCACCAGTCAGCTGTTTCAAACATGTGAGTTGAAATCGGCAGAACATTTATCATTTTTGTCACCGTAATTGTGTTTCTTAAAAGCCCATGTTATAAATGTTCTGTTAATGATTTGACAACTCTTTCAGGTGCCCATGGGTATGTGCTGGGGTGACATAGCTGAGGGGCTGAGGGTGGAGGTCTTCAATTCTGACACAAACCTCTCCACAAAAGTTTACTGGGTAGCAGAGATTGTCAAACTGGCAGGTACTGTTGATTCCAGTCTCTACCTACAATTTTTTATGGTTTGTTATAAATGAGAAGGGTATATGATTTATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22144
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086087 Essential Splice Site 158 705 4 17
Genomic Location (Zv9):
Chromosome 12 (position 35049420)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33453529
GRCz11 12 33554512
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATGCACAGTATCAAGCAAGTCAACAGAACCAAGCTAAATCAAAATCAGG[T/C]AAAATGGCTTATTTTAGTGTTGTTATGTAATTATATGCCTGAATGATCTG
Long Flanking Sequence:
CTACATAAATTATTTGTAAAACTTAAAAATGTCTTTACTATTGATCAATGATTGATACTACGATCAATGCTGTTATTTTACATAAAAATATATCATGGTTTCTACAAAAAAAAAATATAACTGTTTAAATACAAGTACTATTTTTCATGGCTTACCAGTGAGAGGACAAGAATGTGAATGGCAGTGTGTGATGTTTTACAGATTTTACACTATTACATTTGCTCAATAGATTATCAGATATGTGTAGATATTATTGAAAGCCTAAAAGCCTTTAGATTTAGAACAAAGTTCAAAGGAAACATAATCAAAACGTGCTGTTGTTCCTTCTTTTTCTCTCTGTCTGTATTTTTAAGATTGTGTGGGTTCTTCTTGTGTCTTTTCAAGGGTAAACCACCAACGAAAAAGGCAAAAGTCTTACAGAAACAGCCGTTAATGGCAAAGTTGGCAGCTTATGCACAGTATCAAGCAAGTCAACAGAACCAAGCTAAATCAAAATCAGG[T/C]AAAATGGCTTATTTTAGTGTTGTTATGTAATTATATGCCTGAATGATCTGTTCTAGCAATCATATTCCACAACACCATTTTTTTTCCTCTTGAAGTGGTTCCTGTTGAAGGCTTTGACTGGGGCCAGTACATTTGTAGCAATAATTTAGTTGGGGCACCAGTCAGCTGTTTCAAACATGTGAGTTGAAATCGGCAGAACATTTATCATTTTTGTCACCGTAATTGTGTTTCTTAAAAGCCCATGTTATAAATGTTCTGTTAATGATTTGACAACTCTTTCAGGTGCCCATGGGTATGTGCTGGGGTGACATAGCTGAGGGGCTGAGGGTGGAGGTCTTCAATTCTGACACAAACCTCTCCACAAAAGTTTACTGGGTAGCAGAGATTGTCAAACTGGCAGGTACTGTTGATTCCAGTCTCTACCTACAATTTTTTATGGTTTGTTATAAATGAGAAGGGTATATGATTTATTTTATCCTCCTCAGGTTTTAAAGCTCTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42070
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
ENSDART00000086087 Essential Splice Site 396 705 10 17
Genomic Location (Zv9):
Chromosome 12 (position 35046906)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33451015
GRCz11 12 33551998
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGAAGATTGAGGGTCAGATGGATGCTCCCTCACAGCTGTTTCTTAAGG[T/G]GCTTTTATAATTGCTTTTTTATTCAACAGTTTGTATACACTCCACTTGCT
Long Flanking Sequence:
AAACACTTTTTCCAAAAGAGCACGCACACAATGCTAGATCTCTGAACGCTAGACTGCATCTGTTAAAAACTGTTTGTGTAAATGTGTAACCTGCAGGTTCAGGAGAACATGCAGTACCCGTTTAAGAAACTGATGCGTGTGGAAGTGGTGGACAAGACGCACCTGTGCCGCACTCGTGTGGCTCTTGTGGAACAAGTGATCGGTGGCCGGTTACGCCTGGTGTACGAGGAGAGCCAGGACGGCACTGATGACTTCTGGTGTCACATGTTAAGCCCACTCATCCATTCCATTGGCTGGTCACGAAGCATTGGACATCGCTTCAAAAGATCCGGTCAGTGCGGGAGTTTTAGATGAACCTTCTTGAAGTCAATTCAGCATAAATAACATTTGATGACCTTGTTGTGGCTTATGGATGTACATGTCTCTTATGTTGCACTCTGCAGAGGTGTCGAAGAAGATTGAGGGTCAGATGGATGCTCCCTCACAGCTGTTTCTTAAGG[T/G]GCTTTTATAATTGCTTTTTTATTCAACAGTTTGTATACACTCCACTTGCTCACATGTATCATCTTTTAAATCCACAGATTAAAGATGTGGATCAGAATGGGGATTGGTTTAAAGACGGAATGAAGCTGGAAGCAATAGACCCTCTAAATCTCTCCGCTATATGTGTTGCTACTGTAAGAAAGGTAAGATTTGTCATTAGTCATTATGGTCCTAACAGGGCATTAAAATTTTGGTTCCCACAGGTCATTCCATATTTTAAAATGTGTTATGTTTATTTTATTTTTTTATTCAAATATGCTAATTTAATGGTTGAGCATTCAGTTTTAAGGTGACAATAAATGTGACAAATATAACCATTTAGTAGGAAATTTTGTTACACTATAACACTTACGGAATTTGGTGAAAACTGTTTGATTCTAAAAGTTTGTGATGTGCAATCTTGTACTTTGTGCATAGCTGTGTGCAGTCTGTATAGTCTGGTAATATTGCAGTTACTGTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45467
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086087 Nonsense 578 705 14 17
Genomic Location (Zv9):
Chromosome 12 (position 35041989)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33446098
GRCz11 12 33547081
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCGAGTCTCCAGATCTCTACCCCATAGGCTGGTGCCAACTGACCGGCTA[T/A]CAGCTGCAGCCGCCTGCCGCACAGAGTGAGTAAACAGCAATGAACATTCT
Long Flanking Sequence:
TGTTTTAGCTCATGAATCTGACATTTCTCTGCAGGGTGCACCAAACTCCCTTTTAAATGGTTTGACTACCTCAGAGAAATAGGTTCGATTGCAGCCCCTGTGAAGCTCTTTAACAAAGTAAGTTTTTTAGTACTTTATTGGGAAGTATATTCTTGAATTAGGGTGAATTCTGGTCATTTGAGACAATTTTTCTCGATCATCTTAATGGTCTCTAGGTCAATCTCAATTTCTAGGATGTCCCAATTGACCAGAATTCACCCTAAGCATTGTGGTCTCCTCTCTTTCTCTCAGGATGTGCCGAATCATGGATTCCGCGTAGGCATGAAGCTGGAGGCAGTGGACTTGATGGAGCCGCGTTTGGTGTGTGTCGCCACAGTGACCAGGATTGTCCACAGACTCCTGCGCATTCACTTTGACGGCTGGGAGGATGAGTATGATCAGTGGGTGGACTGCGAGTCTCCAGATCTCTACCCCATAGGCTGGTGCCAACTGACCGGCTA[T/A]CAGCTGCAGCCGCCTGCCGCACAGAGTGAGTAAACAGCAATGAACATTCTGCTACTTGATGGGTCAGATTGTTTCTAAGCAACGCTCTGTTTTTTTTTTTTGTTTTTTTTTTTTACAATTTTCTACTGTCTCTCAACTTTAAAACGTTTTAAACTGTTTAGATTGAAACCATAAATAAATTAGCTTCTTTTTTTCTTGATATTAAACTGGTTTGCTGAATAAATGATGCCTCATTATATAAACAAAATTTACAATTAGAGATGTTAAGGACAGTAGCTACGTTTCTATTCACACTACCGGTCAAAGTTTGGGCTCAGTAGGATTTTTAAATGTTTTATAAAACTCTCCTGCTCCCCTAGGCTGCATTTATTTAATAAAAAATACAGTAGACATTGTAAAATTGTGAAATGTTAGTTCAAAATGTAAAAGTAGTTTACAATTTATTTTAAAATTTTATTCCAGTGATTTTTAAAGATTAATTTTAAAGAGTGATTTTAAAG
Associated Phenotype:
Not determined