Busch Lab

ZMP

gtf2h2

Ensembl ID:
ENSDARG00000016514
ZFIN ID:
ZDB-GENE-030131-1959
Description:
general transcription factor IIH subunit 2 [Source:RefSeq peptide;Acc:NP_963875]
Human Orthologues:
GTF2H2, GTF2H2B, GTF2H2C
Human Descriptions:
general transcription factor IIH, polypeptide 2, 44kDa [Source:HGNC Symbol;Acc:4656]
general transcription factor IIH, polypeptide 2B [Source:HGNC Symbol;Acc:31393]
general transcription factor IIH, polypeptide 2C [Source:HGNC Symbol;Acc:31394]
Mouse Orthologue:
Gtf2h2
Mouse Description:
general transcription factor II H, polypeptide 2 Gene [Source:MGI Symbol;Acc:MGI:1345669]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa20423 Essential Splice Site Available for shipment Available now
sa20424 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa20423
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007587 Essential Splice Site 157 392 None 15

The following transcripts of ENSDARG00000016514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 27870572)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25625870
GRCz11 5 26226023
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTTACCAACAATCTTGTGAACTATCCCGAACTGTATCTGTTTTATTGC[A/T]GACACATGCCTGCTCACACAAGCAGAGAAGTGCTGGTTATTTTCAGCAGT
Long Flanking Sequence:
AAAGTATTGTAGTTATCCATTTTCAGAACAAAATCTTGATTAAATAATTTGTATTACATGTTTTGCATGTTATTTACATCAGTAATTTATCTGTTTTTTTTAAGATTGTCTTGACAATTTAGGTGGTATGAGTGTTTCATGTCAGAATATACAGAAATACATAATCTATTATACAATCATCCATCAGCTAGTAATTCAAGTATTTTGTGAAGGGTAAAATTAACACAAAAAATACAAAAGTACAAATCTTTCAATATACATTCTCTAAAAATTCCAACAGAGGTTTTCAGATATTCGACATATCAGATGTCTGACGTAAGTCATAAGTCAATTTTTGATTCAGCCACATTTTGACTGCAGATAGAATACATTTCCTTATACACCTTATACATCAGGTGTAACACAAATTCTGAGGTGTTATTCAGCTTTAATAACTGGACAAGGGCAAAATGTTTACCAACAATCTTGTGAACTATCCCGAACTGTATCTGTTTTATTGC[A/T]GACACATGCCTGCTCACACAAGCAGAGAAGTGCTGGTTATTTTCAGCAGTCTTACTACCTGTGACCCAGGCAACATCTATGAGCTCATCAAAGTGAGTTTAATGACATTAATGACCACAGACGGTAATGATTATTAGGTATTGTTTAAAGTCTCTTTTTAATGCATCATCAACAGACTCTCAATGGTTTGAAGATCCGAGTGTCAGTGATTGGCCTGTCGGCAGAGGTTCGGGTGTGCACCATTCTCACAAGAGAAACCGGAGGTTAGTAGTCCCACTTTTATGCAGGAACACAGTTTATCATTAGTGTTTTTTCTGACTGTGTTTGGCCCAATAGGATCCTATAATGTGATACTGGATGAGAGTCATTTTAAAGAGCTGCTGCTTCTCCATGTGAAGCCTCCTCCTGCCAGCTCCTCCTCAGAGTGCTCCCTCATCCGCATGGGTATCATCACGTTCATTTACATCACGTTTGAAGTATTGTTGTTAGTGTATTGCTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20424
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007587 Nonsense 360 392 15 15

The following transcripts of ENSDARG00000016514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 27877071)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25632369
GRCz11 5 26232522
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAATGAATTGAAGCTTGATTATTTTTTCCCCTCCACAGGTGTTTACTTG[T/A]CTAGCATGTAAAAAGGTGTTCTGTGTGGAATGTGACATCTTCATACACGA
Long Flanking Sequence:
TCTTTCTGGAAGGCAGATTTGTCCTGTTTGGAACGCTGTGACTGTGATCGGTGTGTCTCATTTCAGCCTAATTCATAACATTAATCTTTGTCTTTCCAGGTTCTGCGAAGCTTGCCAAGGAGAGTTGAAGGACAAAAGTGTACGTTTTCAATATCAGCTCTTTTGCATGTAAATGGTAAAAGGGACACTTCACCCAAAAATAAAAATGCTCTCAATATTTACTCACTCTCAAGTGGTTCCAAACCTTTAGCAATGAGTCAGAAACGGGTGCTCATCGACATTCATTGTAGAAAAAAACAAATACTATGGAAGATAATGGCCACCAGTTTCCAAAAATTTCAAAATATTTTTTGTGTTCAGAAGAACTCCAAACAGATTTGCAACTAGTAGAGTCAGTAAATGATAAAAAGAAAATAGAGAACTGACCTTGTGTGTATTTATTATTATTTTCAAATGAATTGAAGCTTGATTATTTTTTCCCCTCCACAGGTGTTTACTTG[T/A]CTAGCATGTAAAAAGGTGTTCTGTGTGGAATGTGACATCTTCATACACGACACACTGCACTGCTGTCCTGGCTGCATGCAGATTGACGGGACGTCCTGAGATCTGACCTGATGACAAATGTGAACGTCAGCAGTCCATATATAATCTGAAAGATATAGAAAATGAAGTGGAAGTAAGCAAACAGAGATTTACATTCTCACCGAATCGCAGTTTAAGGTACTGGACGGCAATGCTTGGGAGTAGTTGCCGTTGGCTTTCTGTTTACGTAAATCATTGTGTATGAAAGGGCGCCCCCTATGGGGAAAAAAGCGTCTTCGGACTCAAATGAAACAAGCCGACGAGGTTTTGGTAGTGCACACTTTTTCTAGTGTCCCATTCATTTTTTATAAAACCGTTGTGATAGACTTTAAACGCCAGCTCTTTCTAAATTTTGTACCTCACATGCCATGGGAATGTACTTGCCTATGCTTAGTGAATCACAAACAGACCTGTGGATATTT
Associated Phenotype:
Not determined