Busch Lab

ZMP

lrrc48

Ensembl ID:
ENSDARG00000041300
ZFIN ID:
ZDB-GENE-061103-349
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.
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.
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