Busch Lab

ZMP

si:dkey-11f4.16

Ensembl ID:
ENSDARG00000076224
ZFIN ID:
ZDB-GENE-070912-357
Human Orthologue:
CD48
Human Description:
CD48 molecule [Source:HGNC Symbol;Acc:1683]
Mouse Orthologue:
Cd48
Mouse Description:
CD48 antigen Gene [Source:MGI Symbol;Acc:MGI:88339]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa34531 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa41322 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa34531
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
ENSDART00000111270 Essential Splice Site 17 475 1 12
ENSDART00000135270 None None 242 None 5
ENSDART00000136529 None None 224 None 2
ENSDART00000138813 Essential Splice Site 17 135 1 3
ENSDART00000142242 None None 173 None 2

The following transcripts of ENSDARG00000076224 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 14305)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 470205
GRCz11 9 469838
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAGTTTGTGGTGCGGGTTTTGCTGTTCTTTACCTGCTTCTGTTTTCAAG[G/A]TGAGCGCTTGTATTTTCTTTTTAAACATGGCTGGAGAAACTCGTAAAACA
Long Flanking Sequence:
AAATAAAGAGCTTAGAGTCTTGGGACGGCTAAACAATACATAGCAAGGGTGATTACATTCAGAGAGACAGAAACATAGACAAAAGTAAATAAATGACAGAAATTATTAATTATAATGTTAATAAAATATACATATAAAAGGATTAGATTAATAAACAAACAAACAAACAAACAAGTAAATAAATAAAATTGTGTTCACAATGAAAGAGGCTGCTGTTCTGCTTTACGTGTAAGGTGTGTTTGGGACTCCGCCCATCCTCAAAAGTCACCTGATACTGCTGTTTTTTTCACTTTCGGTATTCGCGACTTTAAAACAAAACAACTTTATCATTTATTCTCTTTTTTTGTTTTCTTTGTCGAGATTTAAGCAGCAGATGAGTTTTACACTTCACACCGACATTAAATAACACGCGGTTAGAGGAGAAACTAACTAACAGCCAGGAGCTGAAATGGAGTTTGTGGTGCGGGTTTTGCTGTTCTTTACCTGCTTCTGTTTTCAAG[G/A]TGAGCGCTTGTATTTTCTTTTTAAACATGGCTGGAGAAACTCGTAAAACAGGCAGAGACATGCTAGGCTAATCACTCCTACAGGTGCAGTGATCTGTGAGGGGAAAAACATTATTCAGGTCGATACACGGACAAGTTTCGGTCAATAAATACTCTTAAGTCAAATTCAGAGTTAATTTGACAATCTAAAATATAGAAATAGAGATGAATTATATATTCAAAAAAGTCGAGTAACAAACTGTTTCAGTGATCTTTTTTTAAACTGAACTTTGTACTGCACGGTCCTTTGTACAGATACACACAACTCGACCCATATAAGTTAACGTTACTACAGCAAGTTATTGCAAATACTAATGTGTATTATCCTGTAGCTACATGGTTTTTACAACTTTTGTTATTGAATGGGGCACGTAATAACTATACTGAACTGATAAACTGTAATAAATACTGTATACTTTAGTTTTTACTACAGTAAACTGGTGTATAGTTTCCCTAATACTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41322
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111270 Nonsense 297 475 8 12
ENSDART00000135270 Nonsense 63 242 3 5
ENSDART00000136529 None None 224 None 2
ENSDART00000138813 None None 135 None 3
ENSDART00000142242 None None 173 None 2

The following transcripts of ENSDARG00000076224 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 21042)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 463468
GRCz11 9 463101
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGTCAAACATCACTTTTGTCTCAAAATGAAAGGCCGGATGAGGAGAAC[A/T]GATCAGACAGTCCAGGTGTAAATGAGGAAGAAAAACTTCTGAATCCCAGT
Long Flanking Sequence:
AGGCTCGAACCAGCGACCTTCTTGCTGTGAGGCGACAGCACTACCTACTGCGCCACTGCTTCGCCCTCTATATTTAACTTTAAGAAACATTAAAAATATTTTGTAAAAGTCAGGCTTAATAATTTAAATAAATTATTGACAAACAACCAAAATAATCTGCCAATGGGGTAATCTAAATATTCTAGTTTTTCCTTTTGACGTAACAATACTTTGCTTACACCATTGGCAGATTATATAGCTTGTTGCAATTTAAAAAACTCACTTAATTTTGACATTACTTGTGAAAACAAGACAATGTGCTGTGCTTGTCTAAAAAATGCTTCTTGATTTAAACATGTTTAGATATTTGGACTAAATAGAAGACAAAAACTCTGAGTATGAAAAGCATTTTTGCTGTGTTCAGAGATTGACTCTGAGTCTGTTTTTAAGTGATTTGCTTTGTTTCAGCTCTCAGTCAAACATCACTTTTGTCTCAAAATGAAAGGCCGGATGAGGAGAAC[A/T]GATCAGACAGTCCAGGTGTAAATGAGGAAGAAAAACTTCTGAATCCCAGTGGAAATGAGGGAGAGCAGTGCAATTATGTGAACAGTCCGCATACATTTGTAGCAGTAGGAAATGCCAGCAGTCAACCTAATGTAACTCTGAACCGAAAACCCCTAGAAGACCAAGATAAAGTGAAGGATGGACAAAGAGAGAAACCGGAAGAACAAAAGACTGATAATGCTAAGAATAATGAGAAAAATGACAAAGTAGCAGGAAAGGAAAAGGAGAAGAAAAAGGAGCAACAAAACACAGGTAAAATATGCTTTTCTGAAGAAAACAAAACTTGATTCAAACACACACAAAATCAGTTTTGTTTTATTTTGCTGTTATATTTACACTAAAAGAGCTTTAAAGGGTTTGTTCAACTCAAAATATAAATAATCCCATTATTTACCCACACTGAAGGCATCTTGGGTGTAAATGACTTTCTTATTTACATCAAAAGTTTGGGTTATTTTGAT
Associated Phenotype:
Not determined