Busch Lab

ZMP

si:dkey-263h23.4

Ensembl ID:
ENSDARG00000071250
ZFIN ID:
ZDB-GENE-060503-538
Description:
hypothetical protein LOC796128 [Source:RefSeq peptide;Acc:NP_001103197]
Human Orthologue:
TMEM79
Human Description:
transmembrane protein 79 [Source:HGNC Symbol;Acc:28196]
Mouse Orthologue:
Tmem79
Mouse Description:
transmembrane protein 79 Gene [Source:MGI Symbol;Acc:MGI:1919163]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa7242 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa29116 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa7242
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105212 Essential Splice Site None 333 2 6
ENSDART00000146554 Essential Splice Site None 273 2 5

The following transcripts of ENSDARG00000071250 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 19 (position 771510)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 792997
GRCz11 19 792806
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACAACAATTGCTGGTTATAATTGAATATTTTACYCCTTGTTGCATTTKCA[G/T]GACCCCTRTGGTRTAAACAAACCCAGAAGAACTGAAGTGCAGACATGATT
Long Flanking Sequence:
GGTGGCTCAGGGGTTAGCACTGTGGCCTCACAGCACTCAGGTCTCTGGTTTGAGTCTCGGCTGGGTCAGTTGGTGTTTCTGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGCGTGGGTTTCCTCCGGGTGCTCCGGTTTCCCCCACAGTCCAAACACATGCGCTATAGGGGAACTGATCAACTAAATTAGCCATAGTGTAAGAGTGTGTATGGGTGTTTCCCAGTACTGGGTTGCAGCTGGAAGGGCAACATATTTTTGGACCCCTGATTAATAAAGGGACTAAGCTGAGGGAAAATGAATATTTGCTTTTATCCAAGTGTTTGCCTCTGATCCGTTCACACATAACCTGAGATTCACACCCAGAACTTTAGTACTGCAACTCAGAAAGGCTTCAGTTTGCTGAATTAAGCCTTAAATTCATTTTATAACTTAAATCAGGTGAAACAACAACAACAATTGCTGGTTATAATTGAATATTTTACCCCTTGTTGCATTTGCA[G/T]GACCCCTGTGGTGTAAACAAACCCAGAAGAACTGAAGTGCAGACATGATTCCAGACTGATGAATGTAAATAAGTGTAAATAAATGAAGAGCAAGATGGCGGAGGTGCTGATCCCTGAGGATGAAGCAGCACAGGAGAAAACACCTGCAGACGCCACTGATCCGAGATCAGCAGGAGAGGAGAACACACTGCAGGAGTGCACAGAGGAGACGCAACACACAGCAGACACAGGTGACCTTACTCTGTTACAACACACACACACACACACACACACACTGACAGAAGTATCAGAATAAGAATGTGTACACATGCTGAACTCCTCTGACTCTGCAGCAGCAGGAGACTCACTGACTGATGAAGATGAAGATGATGATGATGATGAAGATCAGCAGGACTCCTGGAGTCCAGAGAAAGCAGCTCAAGCGTTCATTGCCAACGTGACCATCGTCCAGCCACACACACACACACAAACACACGTCCAGAAAGAGGAGGAGATGCATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29116
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
ENSDART00000105212 Essential Splice Site 195 333 4 6
ENSDART00000146554 Essential Splice Site 199 273 4 5

The following transcripts of ENSDARG00000071250 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 19 (position 773120)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 794607
GRCz11 19 794416
KASP Assay ID:
2261-2729.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCTACACTCTGAGGTGTGCTTTCTTCGCCACCATTCCCATCATCCTGG[G/A]TGAGGACACACACATACACCCTTATACACACACACACTTATTCTTATTCA
Long Flanking Sequence:
AAACGCACTCAGAAAAACACACACACTCAGATAAACGCACACACAAAAATACACTTAATCACAGAAAAACACACTTGCACTCATACACTTACAGAAACACACACGCACTCACAGAAACACACACTAACAGAAACACACACACACATCTCAAATGTTTTGCTAAATGAATGATGAAACTGTGAGTTTGACACTGATATATATCTATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTGCGCGCGCGTGTGTCAGTGAGCTACAGTGTGCAGGTGATGCGTCTGTGTGTGTGTGTCGCCACGGCTGCAGTGATTTTCCCTTTATTGACGTGGGCTGGCTTTAAGCTCCTCCCCTTTGAAGCTCCTCCCCTTGAAAGCTCCGCCCTCCGGCTGGTCTACACTCTGAGGTGTGCTTTCTTCGCCACCATTCCCATCATCCTGG[G/A]TGAGGACACACACATACACCCTTATACACACACACACTTATTCTTATTCACGTATAAACACACACACACACACTTTTACATCAAACACTACACTGCACATACACACACATTTTATATACCCACACTTGTGCACAAACACGCACACACTTTTTAGTCCAGCACTGATCAGCGGTGTGTGTGTGTGTGTTTCAGGTGTGTTGGCTGAGGGTGTGTCTCGGCTCAGGTTCAGGAGTCTGCAGCCGGTGTGTGTGGATGCGCTGCAGAAGCGTGAGGTGTGTGTTCACCGTCATTACGTGCGCGAGTCGCTGCAGCTCTTCCTGCTCTACTTCCTGCAGCTGAGCGTCATGGCAACATACACACACCAGCAGACGCTGCGACTCGTGCCGCTGCTCACCGTCATCTTCGTCTTCGGCAGGTGTGTGACATTCATAACACACACACACGCACACACACACGTTTACTCAAAAATGACACACTATGCACTCTTTACACACACTCTT
Associated Phenotype:
Not determined