Busch Lab

ZMP

add1

Ensembl ID:
ENSDARG00000022682
ZFIN ID:
ZDB-GENE-030909-2
Description:
alpha-adducin [Source:RefSeq peptide;Acc:NP_001073427]
Human Orthologue:
ADD1
Human Description:
adducin 1 (alpha) [Source:HGNC Symbol;Acc:243]
Mouse Orthologue:
Add1
Mouse Description:
adducin 1 (alpha) Gene [Source:MGI Symbol;Acc:MGI:87918]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa37206 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa9196 Nonsense Mutation detected in F1 DNA Not yet available
sa9003 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37206
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030085 Essential Splice Site 380 608 None 16
ENSDART00000102731 Essential Splice Site 387 741 None 15
ENSDART00000127480 Essential Splice Site 387 783 None 15
ENSDART00000134863 Essential Splice Site 380 608 None 13
Genomic Location (Zv9):
Chromosome 21 (position 2872838)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 1999897
GRCz11 21 2025721
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGTTGTTGTTGTTTTTTTTGTTTTTTTTATCAACCTGTTTCTCTCTGC[A/G]GGGCTACAGGACTGGCTATCCGTATCGTTGCCCGGCGCTGCGTGATAAAA
Long Flanking Sequence:
TCATCTGGTGTTATAATGCATCTTAAATTAAATGATAAAACCACTTTATAGGTACACTCAAAATTATTGCTGACTTTTTAGTAGAATCTAACTTTCTAGTCATCTCAACTTCTAATAATCAAGCTGACATGAAATATTAATTTAAACAATTAGTTAAAACCTGTTTAACTAAAAATAAGGTAAAAGGATTTGTTGTCTTGACACTTTATTAAGGTTTTTTTACAGTGCAAGTATTATAATGGAGCGTAATGAATAATTATAGAATGATACAAATATTTGAAAGTTGTTTACCTTGCATGCATTATGTATTGAATATTTATTACCAATGTTGCAATGCTGCAAGAAATAAATCATGCATGCATTATAATGCATTCAGAATACCCACATAAAGCATTGTAGATGCAGACTTCATAGAGGGTGTTACACACATATTTTGCATTGTGTTTTTTTGTTGTTGTTGTTGTTTTTTTTGTTTTTTTTATCAACCTGTTTCTCTCTGC[A/G]GGGCTACAGGACTGGCTATCCGTATCGTTGCCCGGCGCTGCGTGATAAAACTAAAAAGTACAGTGATGTTGAGATTCCCCCGTCAGCCACGGGATACTCGTACGCAGAGGACAGTGACTCGGGTGCTCGCTCCCCGTTAAAGCACAGTTTTCAGCGGCAGCAGCGGGACAAGACCCGCTGGCTGGCTGCAGGACGGCCCGACGAATCGGCTGAGGATGGGCAGGATGGCAGCGGTAGCCCCAAGGCGAAGACTAAGGTGTGGACGAACATAACACACGATCACGTCAAACCCTTGCTGCAGTCTCTCTCGTCCGGTGTCTGCGTGCCAAGCTGTATTACCAACTGCTTGGTCTGTGCCAACCTTATTGTTCATAGTTTAGAATCGTACTGCTACAGAGCTAGAACGGGCAGCTGGTTAGCACCCCGACGCCTGGGCTAAAACACCCGTGTTCATGTGGTTTTGGGATTTTTATTTATTTATTTTTGTTGTGAAATGTTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9196
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030085 Nonsense 439 608 10 16
ENSDART00000102731 Nonsense 446 741 10 15
ENSDART00000127480 Nonsense 446 783 9 15
ENSDART00000134863 Nonsense 439 608 9 13
Genomic Location (Zv9):
Chromosome 21 (position 2873019)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 1999716
GRCz11 21 2025540
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCCCGTTAAAGCACAGTTTTCAGCGGCAGCAGCGGGACAAGACCCGCTG[G/A]CTGGCTGCAGGACGGCCCGACGAATCGGCWGAGGATGGGCAGGATGGCAG
Long Flanking Sequence:
AAAAGGATTTGTTGTCTTGACACTTTATTAAGGTTTTTTTACAGTGCAAGTATTATAATGGAGCGTAATGAATAATTATAGAATGATACAAATATTTGAAAGTTGTTTACCTTGCATGCATTATGTATTGAATATTTATTACCAATGTTGCAATGCTGCAAGAAATAAATCATGCATGCATTATAATGCATTCAGAATACCCACATAAAGCATTGTAGATGCAGACTTCATAGAGGGTGTTACACACATATTTTGCATTGTGTTTTTTTGTTGTTGTTGTTGTTTTTTTTGTTTTTTTTATCAACCTGTTTCTCTCTGCAGGGCTACAGGACTGGCTATCCGTATCGTTGCCCGGCGCTGCGTGATAAAACTAAAAAGTACAGTGATGTTGAGATTCCCCCGTCAGCCACGGGATACTCGTACGCAGAGGACAGTGACTCGGGTGCTCGCTCCCCGTTAAAGCACAGTTTTCAGCGGCAGCAGCGGGACAAGACCCGCTG[G/A]CTGGCTGCAGGACGGCCCGACGAATCGGCTGAGGATGGGCAGGATGGCAGCGGTAGCCCCAAGGCGAAGACTAAGGTGTGGACGAACATAACACACGATCACGTCAAACCCTTGCTGCAGTCTCTCTCGTCCGGTGTCTGCGTGCCAAGCTGTATTACCAACTGCTTGGTCTGTGCCAACCTTATTGTTCATAGTTTAGAATCGTACTGCTACAGAGCTAGAACGGGCAGCTGGTTAGCACCCCGACGCCTGGGCTAAAACACCCGTGTTCATGTGGTTTTGGGATTTTTATTTATTTATTTTTGTTGTGAAATGTTTGAACGCAAAATCAAATCAAATTTAGGAATCAGTTTTTATTTTGTAAACACATCTATTTACAGTGGGGGAAATAAGTGTTGAACATGTTAGCATTTTTTTTTTCAGAAAACATTTCTAAAGGGGCTGTTGACTTTCTATATGCAAAGAAAACAAAACTAGTTAGTTTACAAATGAAGTTATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9003
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
ENSDART00000030085 None None 608 None 16
ENSDART00000102731 None None 741 None 15
ENSDART00000127480 Essential Splice Site 660 783 13 15
ENSDART00000134863 None None 608 None 13
Genomic Location (Zv9):
Chromosome 21 (position 2897726)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 1975109
GRCz11 21 2000933
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTTCACTCRGCGGTGCTCAAAGCTCTGGGCTGTGAGACTGAAGCTGCAG[G/A]TATCGCCTGCGGAGGACACAYTTTTGCTGCTTTTCCWCTGTGTGGTACGG
Long Flanking Sequence:
ATTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTTGAGTTATATGTCGTCTCATATTCTATTTATATTGCAGGAGTTTGGTACAAACTGTATTATTATTATCATTATTATTATTTTTTTGGATATTTGTTTTTAATTTATCGCACATGATTCTTGTGAGCCCGTCAGCGCCCTCCGCAGGTCAGAAGAGAAACTTTTGTATTGCATTTAGCACAGGTTGAAGATTCTGCCTCATCCCCTGAAGACGTCCAGGGTCTGCTCAGCAGCACACATGAAAATCCGGATCCGCAGGTCATCGCAGCCCCCCCGCCCTCCATTATCCCCAGCCGCGCATCAGGGCAGGACAGCCCAGCTGATAACCCAGAATCCCCTCAGAAGGAGTTTCACTCAGCGGTGCTCAAAGCTCTGGGCTGTGAGACTGAAGCTGCAG[G/A]TATCGCCTGCGGAGGACACACTTTTGCTGCTTTTCCTCTGTGTGGTACGGTTCAGTGCGGCTCAACTTTGAGGAATTTTCCACTGGGCTCTGTGTGATTTGTATTACATCACAACACTGGTTGTGTGACATGTCCACTGCATCACCACAATCATTTATTTATTTATTACTTTATATTTACTGCTATAAAAAATATTTATTTACTTTCGTTAAAGAAAAAATGTTGCATCACAGAAACTGACAAAAAACATCTTAGGTTTTGTCTCGTTTCATATTGAAATTGTCTTAAATTGAGAAGATTTTTTCTAGACAAGTAAAAAGTGTCTTGTTTTAAAACAAAAAAAAGAATAGGAAAATACTAATAATATAAAACGGGGTCAGCAAAATTTACCTGAAAACCAGATTACTCTGCTTTTACACTGTTTTTTTTTATTATTTTGCCACATTTTTTTCTAAAAGGAAAAACATTTAGTTTTGACTTTTTAAAAAAAAAAATTAAAT
Associated Phenotype:
Not determined