Busch Lab

ZMP

si:ch211-133j6.3

Ensembl ID:
ENSDARG00000058332
ZFIN ID:
ZDB-GENE-090312-205
Description:
LOC553479 protein [Source:UniProtKB/TrEMBL;Acc:Q502A4]
Human Orthologues:
AC090051.1, KRT18
Human Descriptions:
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:C9JEA8]
keratin 18 [Source:HGNC Symbol;Acc:6430]
Mouse Orthologue:
Krt18
Mouse Description:
keratin 18 Gene [Source:MGI Symbol;Acc:MGI:96692]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa45788 Nonsense Mutation detected in F1 DNA Not yet available
sa11708 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa45788
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081193 Nonsense 196 410 3 7
Genomic Location (Zv9):
Chromosome 23 (position 10460482)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 10419284
GRCz11 23 10354254
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGCAGACATAAATGCACTGAGAAAAATGCTGGATGACACCAATGTGGCA[C/T]GACTCCATCTGGAAAATGATGTTGAAGGATTAAAGGTAGAGCTCATCGAG
Long Flanking Sequence:
ATAGGCTGTATTCTACTTGTCCACTTAGATCTTGGAGATGATTATGAGAAATGTAAATGTTAATCTTCAAATTGACAATGCCAAGTTGGCTGCTGAAGACTTCAAGATCAAGTACGTAATTACAAACACATTAAAACTAAGCTCTGTTTTTTTTTTGGGGGGGGGGGGGGGGGGGGTTATTGCTTTTCTGTTATTTAATTGATGGAGTTATATATATTTTAATTGTTGGAGTATTATATTTTTTATTTAATAAATGCATAGTCTTAACAATATAATTGTGTAGCAGATATGAACATGGGAACATACCGATAAATCATGTTGCGTCTAAATTTGTCTGATGAAACACAAAATTAAGAATGTCCCTCACCTTAATGTAATCCCATTAACAAAATATGTTTTTTTTTAAAATATGTAGGTTTGAAAATGAATTTCAGCAAAGACAGTGTGTTGAGGCAGACATAAATGCACTGAGAAAAATGCTGGATGACACCAATGTGGCA[C/T]GACTCCATCTGGAAAATGATGTTGAAGGATTAAAGGTAGAGCTCATCGAGATCAAGAAACAGCATCAACTGGTAAATACAACGATTATATAATATAGAAATATTGAATTTGCAGTCTGCTTACTGGCTCAGAAGGTGTAACAAACATATACATATAAAGGGGCCTAAGATATAACCCTGTGGAACATCAAATCACCTATTTTTCAGGAATTGTCAGCACTAAATGGTCAAATTACCCAATCAGGAGTGCAAGTGGACATAAATGCCCCTAAGGGACAGGACCTGGCTAAGATAATGGAGGAGATGAGAGCAAACTATGAAAAGATTGTGCTGAAAAACCAAGAAGAGCTCAAAGCCTGGCATGAATCAAAAGTGGGGCATCATTTCTCAATGCAAAGGTATTCATGTTTTAAAGAGAAATATTTAAATGTAATACACATTTATTTTGTATACGTAGATATCTGTGGTGCAGGTTCAAGTGACAGAAAACACTGCAGCATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11708
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
ENSDART00000081193 Essential Splice Site 220 410 4 7
Genomic Location (Zv9):
Chromosome 23 (position 10460687)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 10419489
GRCz11 23 10354459
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAAAGGGGCCTAAGATATAACCCTGTGSAACATCAAATCACCTATTTTTC[A/T]GGAATTGTCAGCACTAWATGGTCAAATTACCCAATCAGGAGTGCAAGTGG
Long Flanking Sequence:
AGTTATATATATTTTAATTGTTGGAGTATTATATTTTTTATTTAATAAATGCATAGTCTTAACAATATAATTGTGTAGCAGATATGAACATGGGAACATACCGATAAATCATGTTGCGTCTAAATTTGTCTGATGAAACACAAAATTAAGAATGTCCCTCACCTTAATGTAATCCCATTAACAAAATATGTTTTTTTTTAAAATATGTAGGTTTGAAAATGAATTTCAGCAAAGACAGTGTGTTGAGGCAGACATAAATGCACTGAGAAAAATGCTGGATGACACCAATGTGGCACGACTCCATCTGGAAAATGATGTTGAAGGATTAAAGGTAGAGCTCATCGAGATCAAGAAACAGCATCAACTGGTAAATACAACGATTATATAATATAGAAATATTGAATTTGCAGTCTGCTTACTGGCTCAGAAGGTGTAACAAACATATACATATAAAGGGGCCTAAGATATAACCCTGTGGAACATCAAATCACCTATTTTTC[A/T]GGAATTGTCAGCACTAAATGGTCAAATTACCCAATCAGGAGTGCAAGTGGACATAAATGCCCCTAAGGGACAGGACCTGGCTAAGATAATGGAGGAGATGAGAGCAAACTATGAAAAGATTGTGCTGAAAAACCAAGAAGAGCTCAAAGCCTGGCATGAATCAAAAGTGGGGCATCATTTCTCAATGCAAAGGTATTCATGTTTTAAAGAGAAATATTTAAATGTAATACACATTTATTTTGTATACGTAGATATCTGTGGTGCAGGTTCAAGTGACAGAAAACACTGCAGCATTGAAGGAGGCCAGCACACAACTCAGCGTGAGCCGCAGGCGGATGCAGACTTTAGAAACTGACCTGCAGACTCTGACTGGAAGTGTAAGAGATTCTGAAACACCTCGATGGAGCTGCCTAAGTTTAAACATACTATTTACGCTCATGTTTTTTTGGCCTTTACTTGTAGAGAGCATCTCTGGAAGAAGCCCTTAATGAAACAAAGTT
Associated Phenotype:
Not determined