ZMP
lrrc48
Ensembl ID:
ZFIN ID:
Description:
leucine-rich repeat-containing protein 48 [Source:RefSeq peptide;Acc:NP_001071195]
Human Orthologue:
LRRC48
Human Description:
leucine rich repeat containing 48 [Source:HGNC Symbol;Acc:25384]
Mouse Orthologue:
Lrrc48
Mouse Description:
leucine rich repeat containing 48 Gene [Source:MGI Symbol;Acc:MGI:1921915]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa33347 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa8883 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33347
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000060527 | Nonsense | 14 | 513 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 3 (position 62789476)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 61890581 |
GRCz11 | 3 | 62127211 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGGCGCATGATGAGCGGCCAGCAGGAGGAGCCCGGAGTCATCGACGAG[C/T]AGATGCTGCAGCGCGCGGTGGAGGAGCAGCAGACCAGATACACAGAGGGG
Long Flanking Sequence:
TTATATGTGATTATATGAATAATAAACGTTTAATTACTGTTTTAACATTACTGTGAGGGTTGTTTTTAGGGTAAGGGTAGGGGTAGATGTTAAAAAATACCATCGTATGGATGATTTAATAAATAATATGATATTGGGGAGTGGGTTTAATAAAATACAATCGAATGGGTCACTTAGTTATTCATATGAATTAACATCTAGTCGCAGCTGTATCCCCTCTAACATCAACTGATTCTCCAAAATATTCCGGATGTTGTTAGTTGGTTGCTTAGCGCCGGTGTTAGCGTCGTGCAGCCGTCGTGTGCTACAGCTACAGAGCAATATTTCCAGACAGGTCTGTAATCAATCAGATATAGGAACATGTGAGTGATATTGTATGCAGCTGTTTTCATACACTTGATGCCGTGTCTATCCCTGATGATCCGCTGTCTATCGCTAATCTCCGCCTGTCAGGGCGCATGATGAGCGGCCAGCAGGAGGAGCCCGGAGTCATCGACGAG[C/T]AGATGCTGCAGCGCGCGGTGGAGGAGCAGCAGACCAGATACACAGAGGGGATACAGCTGGAGGAGGTGCTGGAGCTGCGGCTGGACTACAGGAGTGAGGAGACTCACACACACACACACACACACCAGCATTTCTCACAAACGTTTATAGCTCATATACAGCTGTAAATGCAAAGAAGGGGGGGGGGGCAGACTGATATATGGTGACATCATTTAATAAAACTGCTGTATTTGTAGACATCCTGAAGATCTATCACCTGTGGAGTTTCAGCTCTCTGACCAAGCTGCAGCTGGATAATAACGCCATCGAGAGGATAGAAGGACTAGAAAACCTCACCAATCTCACCTGGCTGGGTGAGCGTGTGTGTGCGAGCGAGAGTGTGTGTGTGTGTGTGTGTGAGTCTAAATATCTCCTGCGCTCCTCAGATCTGTCATTCAATAAGATCGAGGTGATTGAAGGTCTGCAGACTCTCGTGAAGCTCCAGGATTTGAGTTTGTTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8883
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000060527 | Essential Splice Site | 266 | 513 | 8 | 13 |
Genomic Location (Zv9):
Chromosome 3 (position 62797195)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 61898300 |
GRCz11 | 3 | 62134930 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACATTARGAACACCAAGSAATCGCCKCTCCTTGACAGTCACGTGGCTCTA[C/T]GTTTAGGAGCAGAATGGAGGCTGTGTGYRTGCAGAWGTTTGAGGCAGGRT
Long Flanking Sequence:
CTTTAATCCACAGAAAAGGTTCCTTCCCACTGGTGAGTAAACACTGTTTATATTTTTCCAGGACGCATTCGTGGAGAACCTGAACGGCGCTCAGCTCTTCCACAGCATGTTTGCAGATGATCCTGATGCTGAGAAACTGGCTCTGCTGCCGGGAGTAGACGCGCTGCTGGAGGAATATCCTTATCCCATATATAAACAAACAAAACACACACACACACACACACACATAACTGCTTAAAAGCAAAGGAAAAGTTATTACAACCTAAAAGACTCCTCTCGCTCACCATTTCTGTTTGATGTCAAAACTGACAGCTGGAGGGGGCGTGGTTAAGAATGTTAGCCCCTCCCAATATCTCAAACAGACCTAATCTGAGAATTTTACAAACAGGAAGTGAATTTGCATATTTCAATTTAAGATTACAAGGGCAAACAGGATTTGAGTACATGCGTACATTAAGAACACCAAGGAATCGCCTCTCCTTGACAGTCACGTGGCTCTA[C/T]GTTTAGGAGCAGAATGGAGGCTGTGTGTATGCAGATGTTTGAGGCAGGGTTGTCTCAGTATTCTCGGAGGTCTGCGGAGGTGGAGTCTTTCTTCAGCTGTTCTCGAGAAGCCGTCGCTGAAAACAAGCAGAAAGCGGCACAGATCGCAGCCGACTTCGAGAGCTTCAGGAGACTGGTCAGTTTAGAAATGAGGCTTTTTTATTTATTCATTCATTCATTCATTCATTCATTCATTCATTCATTTATTTATTTATTTATTTATTTATTTATTTATTATTTTTTATTTATCATTTATCTATTTATTTATTTATCATTTATTTATTTATTTGTTTGTTTGTTTGTTTATTTATCATTTATTTATCATTTATTTATTTATTTATCATTTATTTATTTTTCTTATTTCTTTATTTATCATTTATTTATTTATCATTTATTTATTTATCATTTATCTATTTATTTATTTATTTGTTTGTTTGTTTATTTATTTATCATTTATTTAT
Associated Phenotype:
Not determined