Busch Lab

ZMP

LOC563252

Ensembl ID:
ENSDARG00000079012
Human Orthologue:
CBFA2T3
Human Description:
core-binding factor, runt domain, alpha subunit 2; translocated to, 3 [Source:HGNC Symbol;Acc:1537]
Mouse Orthologue:
Cbfa2t3
Mouse Description:
core-binding factor, runt domain, alpha subunit 2, translocated to, 3 (human) Gene [Source:MGI Symbo

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa1754 Nonsense Available for shipment Available now
sa38643 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa1754
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021009 Nonsense 188 598 4 11
Genomic Location (Zv9):
Chromosome 7 (position 56934812)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 55370138
GRCz11 7 55671549
KASP Assay ID:
554-1747.1 (used for ordering genotyping assays)
KASP Sequence:
TACTTCACTGTGCTCGGATGGCTAAGCAGACCCCAGCCCAGTATCTGGCC[C/T]AACATGAACAGCTTCTGCTGGATGCCAATGCCATCTCTCCCCTGGACTCC
Long Flanking Sequence:
TGTTGAACTACTTAATATCCAATCGTCCGCATATGCCGTGTTTTGGATACTGGTCCCCAACTTGGTGCGATGCCTGTGTAGCCTCGCCTGAAAGACAACATTCAAACAGCTGACTAGATTAACCAGCTTAGTATTAAACCAATTAGATAAGTAACCCAATAACTCATACAGTACTAACCCACTAATGCACAAAGACATTCTGGTCAGCGATGTTTATAAACTGTACAATCACAAATAATCAGTTTTACTAGCAAACTAGGCTGACTAGCAAGAATTATTTAGTTAAAGAACTTCCAGGTCAATCAGCTTCACTAGACCGGATTTGGTACAATGGCTTAGCAAGACTAAAGATAAAGAGCTCTACTTTGAATGTTTTATCAAATTCAAAATTTTATGAATCCAATTTTCTTTCCTTTTGGCAGGCTAACTTACCCCTCCTGCAGAGGGAGCTACTTCACTGTGCTCGGATGGCTAAGCAGACCCCAGCCCAGTATCTGGCC[C/T]AACATGAACAGCTTCTGCTGGATGCCAATGCCATCTCTCCCCTGGACTCCTCTGAGATCATGCTGGAACTCAACGAGCATGGCAAGAGACGTACCCCAGACAGGTACACACACATAAACTTGTCTTTCTGTGTACCATTTTTATAACAAATACCTTAGGTCATAAATATCTACAAAGTCAAGCAAAAGGTAAAAATGTAGACAGCTATGGTAAATGTCAACACAACCTTGCCCTGGGCATTCTTCTTCCTGTCTGGCTTTGAAATGCACACAGCGTCAATGTAATGAGTGGAGGTTGTGGGAAGGTTAGGCCACACAGAAAGAGACTGTGAGGTGGGCAGTGGGAAGGTGGAAATGAAAGTGACATATTTGCCAGGTGGTGCCAGCTACCTGTGGAGTAGAAATGGACTGATATGCTCTAGCATCACAAAAAAAAAACATAGTCCATTTTCTTTACATACAATAGTGAGACATCTAGCAATCTAGACAGTCAGAATATTT
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa38643
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021009 Essential Splice Site 420 598 7 11
Genomic Location (Zv9):
Chromosome 7 (position 56931823)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 55367149
GRCz11 7 55668560
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACTCTTCCTCCTCCAACACTCCTAACAGCAGCGAAACACAGCCGCTAG[G/A]TACATGCACCGCTGCAGATGCAGCCACAGGCGCAGATGCTTGGCACGCAG
Long Flanking Sequence:
CCACTGGCAGCACAGCTGTTGCAGGGGCTATTGTTGCTTAACCACTCAACCGCTCACTGCACCATTGGATTACACACACACGTATGCACACAAAGTGTTCGAAATATCTTGTGCTTATGGTACTCACTATTTTATCAGATCTCTCAATAAAAAATAAAAAAAAACAGAAGGTGCGTTGTGGAAATGTTAGTGTGGACTAAGTGGTCTAATGTTGCTGTATAACATCCTCTTCAACTGTCTCCAATCTCTTTCTATTTGTTTCTCTCTGTAGTTGCTGAACTGTATCATGGATATGGTGGAGAAGACGCGGCGTTCCCTTACCGTGCTGCGACGCTGCCAGGAGGCAGACCGGGAGGAGATGAACCACTGGATCCGTCGCTATAGCGACGTGGAGGATATGAAAAAAGGTGGGAGCTCCGCCCAGCGGCCTCCTCCTCTTCCTCCCCACCACAACTCTTCCTCCTCCAACACTCCTAACAGCAGCGAAACACAGCCGCTAG[G/A]TACATGCACCGCTGCAGATGCAGCCACAGGCGCAGATGCTTGGCACGCAGCATGTCTCTCACATTTTTAGCAGCTGCAGACACCGTCCTCTTCTAAGTAGTTTTCATCAGCCAACATACCACTCTGATGAACATGATTTGAAACTAGGCTTCAAGCCTGATTTTTTCAGACTAGTCTGCATGTAATCCTGCGTCTAGCCTACCATAGCTACATAGCTTTTCTATGACTTTGTCTAGAGCAGTTAATCCTTCTCTGTCACTCCATGTTCATGTTTTGAGGGACCCAGAGTACTACATTTAAATGTGTCTGCAAGTTAGCACACCCGAATCCACTCACTAGGTCATTAATACAGCGATGTATGATTTAAATTTGGTGGCAGTTAAGGGAGAAATCCAATATGTGCAGTACTGTTGGTTCTTGCAAGTAGGGTTGGAAACGCTTGCTGTATCCAAAATCGCCCCCTATACTCTCATTCACTAGACCCTACTTTAGTCCACTTG
Associated Phenotype:
Not determined