Busch Lab

ZMP

zgc:55671

Ensembl ID:
ENSDARG00000051888
ZFIN ID:
ZDB-GENE-030131-179
Description:
IST1 homolog [Source:RefSeq peptide;Acc:NP_997750]
Human Orthologue:
KIAA0174
Human Description:
KIAA0174 [Source:HGNC Symbol;Acc:28977]
Mouse Orthologue:
2400003C14Rik
Mouse Description:
RIKEN cDNA 2400003C14 gene Gene [Source:MGI Symbol;Acc:MGI:1919205]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa21096 Essential Splice Site Available for shipment Available now
sa34202 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa21096
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073596 Essential Splice Site None 354 None 10
ENSDART00000123273 Essential Splice Site None 342 None 9
ENSDART00000135259 Essential Splice Site None 341 None 10

The following transcripts of ENSDARG00000051888 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 57736745)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56172071
GRCz11 7 56473482
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTTTTTGTTTTATCTGATAAAGATATCAGGCTTTTGTTATTCATAAAC[A/T]GAGCTCCATCATGCTCGGTGGAGGGTTCAAATCCGAGAGACTTCGTGTCA
Long Flanking Sequence:
ATCGAATGTACAAATATTTCTGAAGAAATACTAGTGAAACCGATGAAAAAGTATATCCATATATATTTTTGTAGTATCCATATATCCATATATATCCATATATTTTGTGTAGTAATCTTAGATGGTAGAATTTAGTAGTACTGTATGTAAATATCGTGGAATATGAGTCATTCAGTACAGAACCAGTGTATTTGGATCAGATATTATTGTACTGCTACTGCTTTTTGCTGTTGGCGACATTATAGACTACTTTTATAATTCATACCGTTTTTATATTACCCTCTTCGTTGGGTGTAGCTATAATGAATCAGGTGTCTCATAATAGTGTTCTATTGATGTAGCAGTGACGTCACTCACCAAGCAGGTGGCGTATCTCCAACACAAATCTCCAACATCAATAAATATCCAGTGTTATTAATAAATATACCTATATGACCTATATTCAGTTGGATGTTTTTGTTTTATCTGATAAAGATATCAGGCTTTTGTTATTCATAAAC[A/T]GAGCTCCATCATGCTCGGTGGAGGGTTCAAATCCGAGAGACTTCGTGTCAATCTCAGGCTGGTCATAAACCGCCTTAAACTTCTGGAGAAGAAGAAAAGTAAGTTTGGGTTGTCCACCACATAGTTAAAAACGTAAAAGCTTTCAAAAGTGAGCTAATTGAAGGAATTTGATCTGATTTTAGCCGAGTTGGCCCAGAAGGCTCGCAAGGAAATTGCAGACTACTTGTCAGCAGGCAAAGATGAGCGTGCGAGGATCCGAGTCGAGCACATCATCAGAGAGGATTATTTGGTCGAGGCCATGGAAATCCTTGAGTTATACTGTGATCTGCTGCTCACCCGCTTTGGCCTAATTCAGTCAATGAAGTGAGTAACACTATTAATTTTATTCATTTTGGTGATGCACAATAGTTTGGTTACTATATTGGTATTAGCTAATCAATTCTTTATTTTAAAGTTGTCGCTACTCACCCAAAAATATATAATCAGCAGATATATTATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34202
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073596 Essential Splice Site 147 354 None 10
ENSDART00000123273 Essential Splice Site 147 342 None 9
ENSDART00000135259 Essential Splice Site 147 341 None 10

The following transcripts of ENSDARG00000051888 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 57740690)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56176016
GRCz11 7 56477427
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTATGGAAAGCTGTGTAGGACAAACCAGATTGGAACAGTTAATGATAGGG[T/A]ATGATGAAACGATTGTTTTGAGGTGGGGGAAATGACCCAATAGTGTTTTA
Long Flanking Sequence:
GAACTTGTAAAGGTAGCCTGTTTTTGTCCTAATTAAGTGTTCTTTTAATTAGGAAACTGAACTAAAAAAAATGTATCAGGATTTGTGTTTATCGGCCTGAATATCTGTTATTAGCCTCCAGATCAAATAGATTTCCAGATCAGAGTTGTCACTTTGGTCAAAATGTCCATTTGATGCATCACAAATTATTTAAAAACAGTGTCTTTATGCACTCTTACATTAATACGAGTATTCTGTTCCTAGAGAACTGGATCCGGGTCTACAGGAGGCAGTGTCCACACTCATCTGGGCAGCTCCTCGCCTACAATCAGAAGTAGCAGAGCTGAAGATTGTGAGTATAGTTTGTGTCTGTTTTTAATTTGTTTCATAGGCTGTAATGTGATCATGAATTCTTTTTATATTTTCCCCTTCACAGGTTTCAGACCAGCTCTGTGCCAAATACAGCAAAGAGTATGGAAAGCTGTGTAGGACAAACCAGATTGGAACAGTTAATGATAGGG[T/A]ATGATGAAACGATTGTTTTGAGGTGGGGGAAATGACCCAATAGTGTTTTATGTTTGTGAAAACGTTATAATAATTGTTTTGAAATTTTATTATTCTGTCATCAATGCCTCTGAGTAATCTGCAAATGTTTTTTCAATTTCCAATTGCAGAGTTTTGTAAAAAAAAAAAAAAAAAAAAAGAAAAACTGCGGCTTTCTGAGGAATTCATCCCTCCAATCTGAAACCGTTTAACTTGAAAATTCTTCTCTCACCATAAAAAATTTTGTTGGAATGTGGAATTTTAAAGACTATTAAACAAGTATTGTGTATACTAAGAGCACTTTCATGGATTATTTTCAAAAATGTCTCTCAGAGAAGCATTTAAAGTTATTTTTCCTATTTTAGAGTGAAAAATCAGTTCTTATTATGAGGAAGAAATGTTGTTATTGTTATGTAATGTTTTTATAGATAGAATATATTCCTTTACAAATTGTATTGCTCATTAATATAATTAAAGACATT
Associated Phenotype:
Not determined