Busch Lab

ZMP

ENSDARG00000077255

Ensembl ID:
ENSDARG00000077255
Human Orthologue:
KIAA1239
Human Description:
KIAA1239 [Source:HGNC Symbol;Acc:29229]
Mouse Orthologues:
3110047P20Rik, 3110047P20Rik
Mouse Descriptions:
RIKEN cDNA 3110047P20 gene Gene [Source:MGI Symbol;Acc:MGI:1920464]
RIKEN cDNA 3110047P20 gene Gene [Source:MGI Symbol;Acc:MGI:1920464]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa43182 Nonsense Mutation detected in F1 DNA Not yet available
sa9236 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa43182
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
ENSDART00000035305 Nonsense 59 1552 3 7
Genomic Location (Zv9):
Chromosome 18 (position 47375466)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 3069445
GRCz11 18 3025496
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGACCCGTATGAAGCCACAAAGCCCAAAAACTGGCCTACGCAGCAGGAG[C/T]GACTGCGTATACTGGAGGACTGCTGGAACAATTCTCTACACTCTTTCTTT
Long Flanking Sequence:
GACTGAGGGAATACTGCAGATCTACATACGGACTCGACTTCAGAGTGAGCAAACCCAATAAACAGTCTAATCCTGAAGTAGGACATTTACAGTTGTTTTGTCTCCCTCAGATGATGATGACAAATGATTTATGGCACAAGCAATTGTGTTTTAATCCATCATCATGAATAAATGATGTTGATTTCTTTCGCTGGAACATGGAGCGTTTAGCAAGCCGCTCTAAAGCTAAACATCGTGCATTTTTAATAGTGCAAATGACAAAAGACTGACTGGGATATGATTGTTAACACTGCTCTATAAACGCATGTTGATCGGCTGTGTCTGTGGTTGTTTTGGCTGATCCAGTAGTTGCGGTGGTTTTAGATGTATTGTCTGGAGTGGGAGGCAGAATGTCATTTGTAAATATATGAGATCAATAACAATATGTGGACCCATCCTGTTAACAGGTTATTGACCCGTATGAAGCCACAAAGCCCAAAAACTGGCCTACGCAGCAGGAG[C/T]GACTGCGTATACTGGAGGACTGCTGGAACAATTCTCTACACTCTTTCTTTGTGGTAAAAGACTTTTGGCTTTGTATGGATGGAATTGTGTGTGTAAATGTATAGAAACAGCTCTAAAGATTGTTAAAATAGTTTATAAATAAATAAACTATTTGGCCCTATAATGCACCCAGCACAATAACGCCCCATTCACACAGGGCGTCAGCGTCAACGCTTTCCATTCACTTTGAATGGGTGACGTCAGGCGTTGCCGAACTGCATTGTGGATCCGGCGCTCGCTGCAGAAGTTGCGACCATAGATATATACATTAGATGTCGCCTGGCCTATTGTTGTCTATTGGACGGAATGCGTCAACAGCGCCGCCATCTTGGTACAGGGTACCGCTCCTTTGAAATGAATGCGGGACCAATGTACAGTGGAAGACTGTGGCCATCCAAAGCCAAAGATATCCACATATCCACATATATCTATGATCGGGAGTTTTCCTGGATGTTAGTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9236
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035305 Nonsense 577 1552 7 7
Genomic Location (Zv9):
Chromosome 18 (position 47368647)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 3062626
GRCz11 18 3032315
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TARCATTGTTCTGATATTTGATCATATGGAGAGRAAACATGGGAAATCTT[T/A]AGTCTCMAAAGCATTAAGCTATCTTACCWTGGCCAGGTATGGCWTGACAA
Long Flanking Sequence:
GCTAAAAGAGAACTTTAAAAGACTCCTGACTGTGAGATCGACATCCAAGAATCCTCTGGTGATAATCATAGATGGTCTTGACCAGCTGCCAAAGACTGATGGACAACCTGACCTGACATGCCTTCCTAAAGCATTAGCTCCAAATGTAAAGCTTCTTATTTCTGTATCTGCAAACAGGCATGCCCTTCTTGCTGCCCTGAAGCAGTATTACCCAGATTCAGCCCTGTTCTGTGAGTTGCAACAAGTGGATACTAAAAGCTGTAACCAGCTTCTAACAACACTTCTTCAGGGGTCTAACAGAAAAATCACCTCGGGACAACAAGTATATGTAAATGAGGCTTTAAAGAAATGCACTGTCCCGTTATATGTGGAACTTCTTTACAGGCAGGCAGTCTGTTGGCACTCAGAGTTTGAGATTACTGAGGAAACACTTGATCTAGAGGTCCACAATAGCATTGTTCTGATATTTGATCATATGGAGAGGAAACATGGGAAATCTT[T/A]AGTCTCAAAAGCATTAAGCTATCTTACCTTGGCCAGGTATGGCATGACAACAGCTGAGTTGACGGATGTTCTATCTTGTGATGATGAAGTTGTCGAATCTTTCCTTCCTCAAGGTGAAGGTGTACCGGCTACATTGAGAGTCCCTGAAGTTTCTGTGGAAACCCTTCTTTCTGACCTGAAGGGATTTCTAGTGCAGAGGAACATTTTAGGCACCCAAACTCTTTCTTGGGTAAACAGACACTTCCCTTTGGTTGTATGCAAGCAGTACCTGTGCTCAGAGGAAACTTGTCTAAAGATACACCATGTGCTTTCGGACTACTTCAGCGGCTCTTGGGCAAATGGCACAAAAAAACATTTTATAATAAACAAAGATACGCAAATCCAAAGCTCCTCAGATGTCCCACGGAACATTTACATTGATAGGCAAGTACCCAGTCAACCTTGCATCTTTTCCCAACCTTTCTACATCTCTACCGCCATGCGTACACCAACACGTCCCA
Associated Phenotype:
Not determined