Busch Lab

ZMP

LOC795408

Ensembl ID:
ENSDARG00000074506
Human Orthologue:
KIAA0195
Human Description:
KIAA0195 [Source:HGNC Symbol;Acc:28983]
Mouse Orthologue:
2310067B10Rik
Mouse Description:
RIKEN cDNA 2310067B10 gene Gene [Source:MGI Symbol;Acc:MGI:1919197]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa35340 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa14844 Nonsense Mutation detected in F1 DNA Not yet available
sa35339 Nonsense Mutation detected in F1 DNA Not yet available
sa42072 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35340
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111259 Essential Splice Site 92 1346 3 30
Genomic Location (Zv9):
Chromosome 12 (position 35140572)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33544681
GRCz11 12 33645664
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGTGGTGGTGGGGCTGTTGTCTTGTCACGGCAGCCAGCCGGAGGGCAG[G/A]TGGGCGGAGCTTAATGCAAAACACTTTTAATTTTTCATTTTTAAAATGTA
Long Flanking Sequence:
TTTAACAAACTTATCTTGACTGTTCGTTGACTATGATGTGACCTGCCCAATTCGATCTTACTTATTATTTATGAGTCACATTTTCCACAATCATCTCAAACAATTTTCAAAACAAAGTGACTGACATGGACTGACAGATTTGGTTGTGCTGTAGGAGGAGGAGACGGCAACTCCACTGGGACTGTCCACGGCTCAGGCTCTGTGCACCCTACGGGACCAGCTGTCCAACTTATTGGGGCAACACCAGAAATTCAGCCGCCGCAGACCCACCATACAGGTCTGTTCTGGAATAAGCGCTTCTAATCACCACATTTATGGTATATTAGTTTTGACAGGATAGTCCTGATTTTAGTTTTGTTTTTTGTTTCACAGGAGCTGTGGGCCAAAAGCTTCCTCCATCATGGTGACCGGCATTCGTGCTTCCATTGGCCTGGAGCTGTTCTTACTCTGGTTGTGGTGGTGGGGCTGTTGTCTTGTCACGGCAGCCAGCCGGAGGGCAG[G/A]TGGGCGGAGCTTAATGCAAAACACTTTTAATTTTTCATTTTTAAAATGTAGCTATCAGGTGTTTCATGTATGCTGCTTTTCTTTTAATCCCAGTCAAGGCATAGAGCTGGTGAACGCTGGTGCGCTCTTCCTCCTGCTGCTGCTCAACCTCTTCCTCATCGGACGGCAGCAGAGGTTACGAATAAGTGAGATGGTGCGGCGGCTCAAGTCCATCATCTCACAACTGAACGGTGAGGAGAGAGAAGCAAGTATCTATTTGTTGTTGCACATTTAGGATTTGCACACAAAAAACGGTTGATGAAAACGCCAATATGTGCATACATTTTGAAAATGCGCAGAAAAAACATGCGCATAACTGAGTAGGACAAACTTTTTATTCGATAATAAAAGATGCGCTTAAATTAAATTGGAAACACCTTTACCAAACTTATTTCAGTATGTGTATTCAGTCATGTGATTTTGTTGTAAGAGATCATGTGATGATAAAAATGTGTGTGAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14844
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
ENSDART00000111259 Nonsense 120 1346 4 30
Genomic Location (Zv9):
Chromosome 12 (position 35140395)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33544504
GRCz11 12 33645487
KASP Assay ID:
1641-0507.1 (used for ordering genotyping assays)
KASP Sequence:
CTTCCTCCTGCTGCTGCTCAACCTCTTCCTCATCGGACGGCAGCAGAGGT[T/A]ACGAATAAGTGAGATGGTGCGGCGGCTCAAGTCCATCATCTCACAACTGA
Long Flanking Sequence:
GGGACTGTCCACGGCTCAGGCTCTGTGCACCCTACGGGACCAGCTGTCCAACTTATTGGGGCAACACCAGAAATTCAGCCGCCGCAGACCCACCATACAGGTCTGTTCTGGAATAAGCGCTTCTAATCACCACATTTATGGTATATTAGTTTTGACAGGATAGTCCTGATTTTAGTTTTGTTTTTTGTTTCACAGGAGCTGTGGGCCAAAAGCTTCCTCCATCATGGTGACCGGCATTCGTGCTTCCATTGGCCTGGAGCTGTTCTTACTCTGGTTGTGGTGGTGGGGCTGTTGTCTTGTCACGGCAGCCAGCCGGAGGGCAGGTGGGCGGAGCTTAATGCAAAACACTTTTAATTTTTCATTTTTAAAATGTAGCTATCAGGTGTTTCATGTATGCTGCTTTTCTTTTAATCCCAGTCAAGGCATAGAGCTGGTGAACGCTGGTGCGCTCTTCCTCCTGCTGCTGCTCAACCTCTTCCTCATCGGACGGCAGCAGAGGT[T/A]ACGAATAAGTGAGATGGTGCGGCGGCTCAAGTCCATCATCTCACAACTGAACGGTGAGGAGAGAGAAGCAAGTATCTATTTGTTGTTGCACATTTAGGATTTGCACACAAAAAACGGTTGATGAAAACGCCAATATGTGCATACATTTTGAAAATGCGCAGAAAAAACATGCGCATAACTGAGTAGGACAAACTTTTTATTCGATAATAAAAGATGCGCTTAAATTAAATTGGAAACACCTTTACCAAACTTATTTCAGTATGTGTATTCAGTCATGTGATTTTGTTGTAAGAGATCATGTGATGATAAAAATGTGTGTGAATGGTCAAACCGGCAGGCTGAGCACATTGTAAAACAAAATATTGTTTTGGTCATTTTAAAACACTGTAACTATTTCAGTATTAGTGTTATTGTATTATTAATGACCTCCAAGAACTGTCAAGAGCGTCTGTGCTCCGCGTATCATGGCTTCAAACATCACCGCATGTTAACTGCGTGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35339
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
ENSDART00000111259 Nonsense 176 1346 5 30
Genomic Location (Zv9):
Chromosome 12 (position 35137773)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33541882
GRCz11 12 33642865
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACTCCCACCTCCCCTTCGTGGTCGCTGCATTGGACGTTCAGGGATGAA[C/T]AGCTGGTCAATCTACCTGTCAGCCTCCTGGTGGAAGGTGATGTCATCGCA
Long Flanking Sequence:
TGACTATACAGACCAAGTAGAATAATATAACAAGGAAATTTCAGTTTGCAACATCAAACAGCGAAACGAGCAGTTTTTAATGTCTAAAAATGAATGGAAGTGAATGAGACCGGAAGTCTCGTGCCAAAAAGATTCAAATGGCAGCGCCCGCTCGTCTGCGGAGAATAAGGTCAATAGGAAACATTCATGCTTTTTAAAGTTATGATTATTATGGTGTTGCTCATTCAGTCGTTTACATTACATTTAAGCACAATGCTAAACACATACGAATTAGTAGTTTGTTTAAAAAAATGTAATTAGGTCAATCTGTGTTTCTTGACTTACTGCTCCAAGTCCAAGTAAACGTTCACTTGTTAACTCTCTAAAATTATCTTCATATGTTACCAGATTATTTGGAGAGAAGTGCAGGACATCCAATCAGATGGGCCCCGTCTCTGTACCCTGACCTCTACACTCCCACCTCCCCTTCGTGGTCGCTGCATTGGACGTTCAGGGATGAA[C/T]AGCTGGTCAATCTACCTGTCAGCCTCCTGGTGGAAGGTGATGTCATCGCACTTAGGCCCGGCCAGGAAGCCTTTGCATCTCTCAGAGGCATCAAGGTAGTGTGAGGTTTGATTTAGTATTATATTAATAGTATTATTACATTTTTTTTTTCAATGATCGTACTTTATTCATTTGTTAATGTGCTTACAATTAAAGTAAATGCATAACAAATTTAGATGTATTTTACAATATTATACATTTATTATACTATTATACATTTAATGTATTAATATTGATTATACAGTTTTTTATTTATTTTTGATTCAGATTTGCTTTGTTTTTTCTTTTGATATGTAGCTTTTTTTGTATTTTATATAACGGAGGCCTACTAGCGAAGTGCTATGCAGGTAAACCTCCTCTGACATCGAAAAGGTGCTCTAGCGACAGATGCTAGTGGCCATTGTCTTTAGCCTCTTTGTTAGAGCAACCAACTCCCATACAAAGAATTGCTGGTTAGATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42072
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111259 Nonsense 842 1346 17 30
Genomic Location (Zv9):
Chromosome 12 (position 35121293)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33525402
GRCz11 12 33626385
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGTACGGCTCATCGAGAACCTGGTGGGAGCCTGCATACGCTTTGTGTA[C/A]TTCTCAATGGAAGACGAACTGCGCAGCAAAGTATGACATTGATAGGAAAA
Long Flanking Sequence:
TGACGTGGATGGATGACGAAATTATTCTTGGGTGGATGGATGGATTCATTGATTTGAATGCTCAATATGTGGATTGATGGATGAGATGAGTATATGGGCTGATAGATACCTGGATGGAAACTTGGATTGATGGATAAATGAATGGATGGATAGACGGATAGATGGATGCATAGGTATACAGATGCACTAATAGTAACCTTAAAAGATATGTTGAAAAGTGTAGTTGAATAGACGGATGATCATGTGGCTAAACATTTATTAAATTTCTAGACAGAAATGTATAGTTAAAACTGAATTGTTTAAACCAATCATTCAACTCTGATATCCATGTGTACTGTATATGTTTCAGAGGGTATAGGAGAAGGTTTGGAGAAGGAGGACTGTGTGCAGGCTCTGAGTGGTCAGATCTTCATGGGAATGGTGTCGTCCCAGTTTCAGGCTCGACTGGATACTGTACGGCTCATCGAGAACCTGGTGGGAGCCTGCATACGCTTTGTGTA[C/A]TTCTCAATGGAAGACGAACTGCGCAGCAAAGTATGACATTGATAGGAAAACGCACTCAGCAGCGAAAATGTATCTGGGATGTCATTTTTGGCTAGCTCCTAATGTTGTCCTTGCCTGTAGGTGTTTGCAGAGAAGATGGGTTTGGAGACAGGCTGGAACTGTCACATCTCTCTGACCCCAAACGGAGATGGTCACTGTGATGGTGCTCCGTCCAGCCCTAGCCAAGCAGGTTCCCTACATGATGAGCTTCTGCAAGGTGTTGTTTTTTGCCTGTCTGCACACAAACTTTAAATTAAATATCTAGTTCACTCTAGAAAATATAAATGGCGCAGACAGTTATGCTTTTTTTTAATGCAGAAATGAATCTGCAAGAATTCATATCAGTTTTTTATTATTTTAAAATAATGGCCTGCACCAATTCTGCACCAATTGCAGTCAATGTGATCACCTGTTTTGATTTGCTACAGCAGTGGTTCTCAAACTTTTTTCACCAAGTACCA
Associated Phenotype:
Not determined