Busch Lab

ZMP

zgc:92126

Ensembl ID:
ENSDARG00000026701
ZFIN ID:
ZDB-GENE-040912-164
Description:
general transcription factor IIH subunit 1 [Source:RefSeq peptide;Acc:NP_001004596]
Human Orthologue:
GTF2H1
Human Description:
general transcription factor IIH, polypeptide 1, 62kDa [Source:HGNC Symbol;Acc:4655]
Mouse Orthologue:
Gtf2h1
Mouse Description:
general transcription factor II H, polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:1277216]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa6789 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa10259 Nonsense Available for shipment Available now
sa13977 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa6789
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032390 Essential Splice Site 354 550 10 15
Genomic Location (Zv9):
Chromosome 25 (position 3169628)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 3077187
GRCz11 25 3202931
KASP Assay ID:
554-5480.1 (used for ordering genotyping assays)
KASP Sequence:
RGAAAATCCTGTTGTCGTTTATTTTTCTAATGTTGTGTTTGTGGCTCSTC[A/C]GGKRAAATTACAGGAAGCCATAGAGTATGATGACCTGCAAAACGACTCGG
Long Flanking Sequence:
GAAATGCCAACTGGCCAGCCGGGACTTGAACCAGAGACCTTGCTGTGAGGCAACAGTGCTAACTGAGCCACTGTGCCGCCTTAATTAATATTAGCAATAATCTAAAATATTTTCTTAATCATTATTTGAAAATTTCTTAAATATATTCAGTGTTTTCGGGGCGTCACAATGGCACAGTGAGTAGCAAGATCGCCTCACAGCAAGAAGGTCGCTGGTTCGAGCCTCAGCTGGGTCAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCACACAAGTATGTGTGAATGGGAGTATATGGGTGTTTCCCAGGGATGGGTTGCAGCTGGAAGGTCATACACTGTGTAAAACATATGCTGGATAATTTGGCAGCTAATTTCGCTGTGATGACCCCTTATTTATAAAGGGACTAAGCTGAAAAGAAAATGAATGAATGATTGAATATTCAGTGTTTTGGAAAATCCTGTTGTCGTTTATTTTTCTAATGTTGTGTTTGTGGCTCGTC[A/C]GGTGAAATTACAGGAAGCCATAGAGTATGATGACCTGCAAAACGACTCGGGCCGAAAGACCATCGCTCTGAACCTGAAGAAATCAGACAGGTAAACACATGCTCCAGACTTCATTGTGCTGGTGTTTGGACTCTTCATATGAAGTGTGTGTGTGTTTGTCTGTCAGATATGCCCACGGGCCGGTCCCTCTTCAGTCGCAGCATTACAGCACCAGTCAGGACATCATCAACTCCATCAGCATTATCCAGCACGAGATGAGGAGCTACAAACCCCAACTCACGCAGGTAACTGTGGGTAAACCCTGGATTATAGTCAGTTTTATCAGACAGACGCGATTACGATGCAGTGTACACCGCTCTAAGTGAATGGAAACATCCAGCTGAGGTCTAAATCTGAAAGTGCACCGTGTTAAAAACTATTGAGTCTTAAAAGAAAGAGTCGACTCGGACTTAAATAAATGATTCGTCTCGTGTCTGAATCTTTTGCCTGGCCGTATCGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10259
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032390 Nonsense 516 550 14 15
Genomic Location (Zv9):
Chromosome 25 (position 3165127)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 3072686
GRCz11 25 3198430
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGAGGTTTCAGGTGACCAAGCTCCGCCCCTTTCAAGAGAAGATCCAG[C/T]GACAGTATTTGAGCACTAATGTAAGGYCACGCCCCCCNNNNNNGNACCACAMCCCCT
Long Flanking Sequence:
TCTATGAATGCAGCACATAATTGCTCGGCACATCAGATTAATTTCCCTTCTCTGGGATATGGATTTTGCACAAACTATTATCACGATAACGATATTTTTTTCGATATATTGTGCAGCCTTTATATTTATATCAAATAATGCACTCGGCTGTGTGCTTTAAACCAGGCATTCAAGCCTTATTTGACTGTCCATTAAGTTGATGTACACTCACTTTGTGTTTATTTGTGCAGAGTTAGTGCCCGCTGATGTTCAGAGCGAGCTGAAGCACTTATACACGGCCGCCGGAGAGCTGCTCCGACACTTCTGGTCCTGTTTCCCCGTCAACACTCCCTTTCTGGAGGAGAAGGTCAAGAAATTGAATCAAACTATTTGAGTTGTGTTTTTGTTATTTTACTGCAGCATGTTTATCTGCTTTTTCTCTCATACAGGTGTTGAAAATGAAATCCAACCTGGAGAGGTTTCAGGTGACCAAGCTCCGCCCCTTTCAAGAGAAGATCCAG[C/T]GACAGTATTTGAGCACTAATGTAAGGCCACGCCCCCCGACCACAACCCCTCTGCTATCTGTAATGGATTCTAAATTGAGGAAACGTAAATAATTTAGCTGATCTAGCTGCTTGGTAGAAAGACAAGCCAGAATTGATCATTGTGTGGAAGGACAATAGTGTGAGAGTGTGCTGTTTAACTCGTCCTTTTAGACTGAAACATTTAATTTAGTTGTGTTTTTTATTTGCATGCATTTGTAGCCCAAATATCTGAGCATTGGATGAAATCTAGCTCAAATTTATTTATTTTTTGACATATCAAAGGTTTTTACAGATGGGAAATGTCTTTATATTACTCCATAATTCAGAAAATACTGCAAACATTTTTAGGAGAATTAAATGTTTTACATAATCTGGCAAATTTAGCTTTAACAAATTATATATACATATATTTTTTTATTTTTTTATATATTTATTTATATATATATATATATTTTTATATTATATATTATATTTATATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13977
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032390 Essential Splice Site 522 550 14 15
Genomic Location (Zv9):
Chromosome 25 (position 3165105)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 3072664
GRCz11 25 3198408
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCCGCCCCTTTCAAGAGAAGATCCAGYGACAGTATTTGAGCACTAATG[T/A]AAGGYCACGCCCCCCNNNNNNGNACCACAMCCCCTCTGCTATCTGTAATGGATTCTA
Long Flanking Sequence:
GCTCGGCACATCAGATTAATTTCCCTTCTCTGGGATATGGATTTTGCACAAACTATTATCACGATAACGATATTTTTTTCGATATATTGTGCAGCCTTTATATTTATATCAAATAATGCACTCGGCTGTGTGCTTTAAACCAGGCATTCAAGCCTTATTTGACTGTCCATTAAGTTGATGTACACTCACTTTGTGTTTATTTGTGCAGAGTTAGTGCCCGCTGATGTTCAGAGCGAGCTGAAGCACTTATACACGGCCGCCGGAGAGCTGCTCCGACACTTCTGGTCCTGTTTCCCCGTCAACACTCCCTTTCTGGAGGAGAAGGTCAAGAAATTGAATCAAACTATTTGAGTTGTGTTTTTGTTATTTTACTGCAGCATGTTTATCTGCTTTTTCTCTCATACAGGTGTTGAAAATGAAATCCAACCTGGAGAGGTTTCAGGTGACCAAGCTCCGCCCCTTTCAAGAGAAGATCCAGCGACAGTATTTGAGCACTAATG[T/A]AAGGCCACGCCCCCCGACCACAACCCCTCTGCTATCTGTAATGGATTCTAAATTGAGGAAACGTAAATAATTTAGCTGATCTAGCTGCTTGGTAGAAAGACAAGCCAGAATTGATCATTGTGTGGAAGGACAATAGTGTGAGAGTGTGCTGTTTAACTCGTCCTTTTAGACTGAAACATTTAATTTAGTTGTGTTTTTTATTTGCATGCATTTGTAGCCCAAATATCTGAGCATTGGATGAAATCTAGCTCAAATTTATTTATTTTTTGACATATCAAAGGTTTTTACAGATGGGAAATGTCTTTATATTACTCCATAATTCAGAAAATACTGCAAACATTTTTAGGAGAATTAAATGTTTTACATAATCTGGCAAATTTAGCTTTAACAAATTATATATACATATATTTTTTTATTTTTTTATATATTTATTTATATATATATATATATTTTTATATTATATATTATATTTATATATATATATATATATATATATATAT
Associated Phenotype:
Not determined