Busch Lab

ZMP

Q502M3_DANRE

Ensembl ID:
ENSDARG00000036402
Description:
LOC553451 protein [Source:UniProtKB/TrEMBL;Acc:Q502M3]
Human Orthologue:
SPTBN1
Human Description:
spectrin, beta, non-erythrocytic 1 [Source:HGNC Symbol;Acc:11275]
Mouse Orthologue:
Spnb2
Mouse Description:
spectrin beta 2 Gene [Source:MGI Symbol;Acc:MGI:98388]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa5848 Nonsense Mutation detected in F1 DNA Not yet available
sa41918 Nonsense Mutation detected in F1 DNA Not yet available
sa21982 Nonsense Available for shipment Available now
sa15290 Nonsense Available for shipment Available now
sa35163 Nonsense Mutation detected in F1 DNA Not yet available
sa21981 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa5848
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
ENSDART00000098492 Nonsense 327 1416 8 22
Genomic Location (Zv9):
Chromosome 11 (position 44169948)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42895359
GRCz11 11 43187440
KASP Assay ID:
554-3770.1 (used for ordering genotyping assays)
KASP Sequence:
CCATCATCATCCTCAATAACCGCAAGTTTGCAAACTCTCTGGTTGGAGTC[C/T]AGCAGCAGCTTCWGGCCTTCAACACCTACAGGACCGTAGAGAAACCACCC
Long Flanking Sequence:
TCTTTTACAGCATCGATGTTGTCATGTAATTAAAATACAATCAGTTAAACAGACTTCAGCATTCATTTAGTTGTTTGAGCATAAAATGAGATGAATAACCGTTTAAATGCAAGCGCCGTCAGGAGCCGCAGGCGAGCGGGAAAACTACATTGAAAATACTAGGGTAAACATGCGGAACAATGTAAATTAAAGCAGTGTTTCTTGTTCATTCTGAGACCCACTTCATATCGTATATTAATCAGGCAGTGAAGATCACTGACTTTTAAAGAAAACAGACCTTAAACATGACGATTTTTTAACGCACCGGAAGCACTTGAACTGGGTTACTACTAATTAAAACTTCTTTTGCGTATATCCTATTCTAGGTGCTTGACAACGCCATCGAAACTGAGAAGATGATCGAGAAATATGAGTCTCTGGCGTCTGATCTGCTGGAGTGGATTGAACAAACCATCATCATCCTCAATAACCGCAAGTTTGCAAACTCTCTGGTTGGAGTC[C/T]AGCAGCAGCTTCAGGCCTTCAACACCTACAGGACCGTAGAGAAACCACCCAAGTGAGCGTCTGCCAGAAGCATACCACGCATTGCATTAAAACAAACAGCCAACTGAAGCTTATTTTCTGCTGTTTCTCCATAGATTCACTGAGAAGGGAAACCTGGAGGTGCTTCTGTTTACAATCCAGAGCAAGATGAGGGCTAATAACCAGAAGGTCTACATGCCACGAGAGGGAAAACTCATCTCAGACATCAACAAGGTCAAATTCACAGCATTTTCACTCATTTAACCTATATCAGAGAGGTTTTGTCTTGTTTTCTCAGCACAAGTAATTGAATCGTTTAAGATGCATTTTCTTCAGGACCAAGTTTGCATCAAAATAATGTGATTTTTTTTTTAATTTAAAATATATTAAATAGGTAAATATGCTAAAGGAGTCAATAAAATAGAACTAATTGAAAATGACAAAGTTATGTTTTTCTTGTCACTAATATTTTTTTCCTGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41918
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
ENSDART00000098492 Nonsense 499 1416 11 22
Genomic Location (Zv9):
Chromosome 11 (position 44165957)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42891368
GRCz11 11 43183449
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACGATATCAAGCGAATCACAGCGCGCAAAGACAACGTGCTGCGGCTGTG[G/A]GAGTATCTGCTGGAGCTGCTGAAGGCCCGCAGGCAGAGGCTGGAGATGAA
Long Flanking Sequence:
TAAAATTTTTTATGGAAGTAAATGTTTAAAATTAAATTATTTATATTATTTTAATCATTTTTACCATTAAAATCAGTAACTCTAAATTAGTATTTTGCATAATTGGGGTAAAAAAGCATTACAAATTTCAATAAAAATGGGTTAATTTGCCAGGAAAATTGCATTTTTTTAAATTATTTAATATTAGGATGATGATCACCAGCAAACTCTCAGATTGAGCTGCATTTCCAATGAGGTTATAACATTATTATCTTTAACATGGATAAATATTTGTGCATCTTTAATATTTAAATTCCCATTTTTCTTCTGCAGGACAATTTCGGATTCGACCTCCAGGCGGTCGAGGCAGCAACCAAAAAACACGAAGCCATTGAGACTGATATAGCAGCGTATGAGGAGCGTGTACAGGCGGTGGTGGCCGTGGCCCGAGAGCTGGAGACTGAAAACTATCACGATATCAAGCGAATCACAGCGCGCAAAGACAACGTGCTGCGGCTGTG[G/A]GAGTATCTGCTGGAGCTGCTGAAGGCCCGCAGGCAGAGGCTGGAGATGAACCTCAGTCTGCAGCGCGTCTTCCAGGAGATGCTCTACATCATGGACTGGATGGACGAGATGAAGGTCAGCGTAAAAGTCTTTGCACACTGAAGTTGAAATTTTCATGCATTTTGTTTTTCGTATGCATTTATTACTTGTGGCAAAATACCTCTCAAAGCATTTCTTCCAATGCAAACCCCCCCCCAGGTGACTGCAAACCTAAGGTCGCATATACGCTATTCAGTTTCTGAATGGATTAGGCACAAGCCAACAGTTTAGTGACGCTGTCTGAGCCTTACATCATAATTTTATAATAATGCACGGTAATACTTTATACCGGGGTAAAATAGGGAGGAGGTTTGACGGTATCAAAATTTGGATACCGCTCAAGCCTACAATGAAGTGATGTTTATGGCCTAAAATGACAGATTTTATTGATGGCTTTTCTCAAAACTTGGCAACATTAGCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21982
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098492 Nonsense 614 1416 13 22
Genomic Location (Zv9):
Chromosome 11 (position 44162089)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42887500
GRCz11 11 43179581
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATCCGTGACCGTGTGGCCCACATGGAGTTCTGCTATCAAGAACTGACA[C/T]AGCTCGCAGCCGAACGCCGCGCTCGTCTAGAAGAGTCCCGCCGCCTCTGG
Long Flanking Sequence:
GAGAAGCTTGTGGAAGGAGACACAAAACATTTGACCAAAGTTTAAAAGCAAAGCAAAAAAAACAAAACAAATAAATGCATGTAAACTTTTGACTATCTAGAAATTAATCAAATGTCTCAAAAAAAAATCTCTCATTATCCTGCCATTTAGCAAATGTAAAATGTAAATCATTTAGGTAATCCTAACAGACCTAAAATAGTAAACTGACCCAAATTGACCATCAGACATTTAAAAAAAATAGTATGTTCTTTTTTTAGAGTGTATGTAAAATTATATATATATATATATATATATATATATATATATATATATAATATCCCCATAATAATATTGCTCAGAATGCAGATGAAACCCTAGAATCCCAAGATGCCAATCACCCATTTTTTCTCTGTCTTCTAATGCTTTCTCCTCTCTGTCCTGCTATAGGCTATAAACCGTGTGACCCTCAGGTCATCCGTGACCGTGTGGCCCACATGGAGTTCTGCTATCAAGAACTGACA[C/T]AGCTCGCAGCCGAACGCCGCGCTCGTCTAGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAAGAGGGCTGGATTCGAGAAAAAGAGCAGATATTATCCTCCGACGACTGCGGGAAGGATCTAACCGGCGCCGTGCGTCTTTTAAGCCAACATCGTGCTCTGGAAGACGAAATGAGCGGTCGTTCTGGACACCTCCAGCACACTGTACGCGAAGGCCAAGCCATGGCTGATGCTGGTCACTTCGGTGAAGCTAAAATCCGAGAACGCATCGCTGACGTCCAAGCGCAGTGGGCGGCTCTAGAACAGCTTGCATCTGTAAGAAAAACCCGTTTGGAAGAAGCGTGTAGCCTTCATCAATTCCAAGCTGATGCTGATGACGTCGACACGTGGACGTTAGACGCTCTTCGAATCGTTTCCACCGCTGACGTCGGCCATGATGAGTTTTCAACCCAAGCTTTGGTCAAGAAACATAAAGACGCATCAACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15290
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098492 Nonsense 666 1416 13 22
Genomic Location (Zv9):
Chromosome 11 (position 44161932)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42887343
GRCz11 11 43179424
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTATCCTCCGACGACTGYGGGAAGGATCTAACCGGCGCCGTGCGTCTTT[T/A]AAGCCAACATCGTGCTCTGGAAGACGAAATGAGCGGTYGTTCTGGACACC
Long Flanking Sequence:
AAAATGTAAATCATTTAGGTAATCCTAACAGACCTAAAATAGTAAACTGACCCAAATTGACCATCAGACATTTAAAAAAAATAGTATGTTCTTTTTTTAGAGTGTATGTAAAATTATATATATATATATATATATATATATATATATATATATATAATATCCCCATAATAATATTGCTCAGAATGCAGATGAAACCCTAGAATCCCAAGATGCCAATCACCCATTTTTTCTCTGTCTTCTAATGCTTTCTCCTCTCTGTCCTGCTATAGGCTATAAACCGTGTGACCCTCAGGTCATCCGTGACCGTGTGGCCCACATGGAGTTCTGCTATCAAGAACTGACACAGCTCGCAGCCGAACGCCGCGCTCGTCTAGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAAGAGGGCTGGATTCGAGAAAAAGAGCAGATATTATCCTCCGACGACTGCGGGAAGGATCTAACCGGCGCCGTGCGTCTTT[T/A]AAGCCAACATCGTGCTCTGGAAGACGAAATGAGCGGTCGTTCTGGACACCTCCAGCACACTGTACGCGAAGGCCAAGCCATGGCTGATGCTGGTCACTTCGGTGAAGCTAAAATCCGAGAACGCATCGCTGACGTCCAAGCGCAGTGGGCGGCTCTAGAACAGCTTGCATCTGTAAGAAAAACCCGTTTGGAAGAAGCGTGTAGCCTTCATCAATTCCAAGCTGATGCTGATGACGTCGACACGTGGACGTTAGACGCTCTTCGAATCGTTTCCACCGCTGACGTCGGCCATGATGAGTTTTCAACCCAAGCTTTGGTCAAGAAACATAAAGACGCATCAACTGAAGTGGCTAGCTATCGTCCAGTCATCGACGCTCTTCATGAACAGGCCCAGACTCTTCCTCCTGAGCAGGCGAACAGTGCTAATGTTAGCGAGCGGCTGGCGGGCATCGAGGAGCGTTATAAGGAGGTTTCGGAGTTGACCAGGCTGAGGAAGCAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35163
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
ENSDART00000098492 Nonsense 1150 1416 15 22
Genomic Location (Zv9):
Chromosome 11 (position 44153224)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42878635
GRCz11 11 43170716
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCAGGCGCTGGACACCGGCTGGAATGAGCTTCACAAGATGTGGGAGAAC[C/T]GACAGAACCTGCTGTCTCAGTCTCACGCCTACCAGATCTTCCTCAGAGAC
Long Flanking Sequence:
TACAGCGCAAACTCACCGGCATGGAGCGGGATCTGGCCGCCATCGAAGCCAAACTAGGAGACCTCCGCGGAGAAGCAGATAGATTAGCCGGAGAACATCCCGACCAGGCCAAAGCCATCACGGGACGGCTAGCTGAAATCACCGCGGTTTGGGAGGAGATGAAGGAAACCCTCCGAACCCGTGAGGAGTCTCTTGGGGAAGCCAGCAAACTCCAGCAGTTCCTCCGAGAGCTGGACGATTTCCAGTCTTGGCTATCCCGCACACAGACGGCCATCGCTTCTGAAGACATGCCTAACACATTAGCTGAAGCCGAGAAGCTGCTAGCCCAACACGAAGGCATCAAGAATGAGATCAACAACTATGAAGAAGACTACCAGAAGATGCGGGACATGGGAGAGATGGTGACGCAGGACCAGACGGACGCTCAGTACATGTTCCTAAGGCAGAGGCTCCAGGCGCTGGACACCGGCTGGAATGAGCTTCACAAGATGTGGGAGAAC[C/T]GACAGAACCTGCTGTCTCAGTCTCACGCCTACCAGATCTTCCTCAGAGACACCAAACAAGCAGAGGCCTTCCTCAACAACCAGGTATTGTAGATAGAGAAGACTGAACATCTACGGATGAGTGTAATTTACATAGCAACACCCTAGTGACCAACAAGAGTGTGCTTTTGACTGAATTGCAACAATCAGGATCCCTCTCATCCATCCATCCATTAATATGCAGCATCCATCCACCATATATAAATATCCAGAATCCATCCATCCTTCCAACATACATATATCAAACATCCATCTATCCATCCATATATATATATATCCAGCATCCATCCACCATATATAAATAACCAGCATCCATCCATCCTTCCAACATACATATATCCAACATCCATCTATCCATCCATATATATATATATATATCCAGCATCCATCCACCATATATAAATATCCAGCATCCATCCATCCTTCCAACATACATATATCCAACATCCATCTATCCATCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21981
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098492 Essential Splice Site 1245 1416 16 22
Genomic Location (Zv9):
Chromosome 11 (position 44150164)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42875575
GRCz11 11 43167656
KASP Assay ID:
2260-4699.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACATTAACGCTGACCGCATACAAGAGCGTGCAGCCTCCATTGATGACCG[G/A]TAACAAGACACCACTGTTGGGTGCCATTACTTCCCAACTATCTAGTTACT
Long Flanking Sequence:
TTCATTCATTTATATTCAGCATCCATCCATATCCATCCATCCATCCCTGCATTAAAGCATAAAACTTACTTGTATAGCAATATTATATCACTCTACCAACCATCACACTTTCCCTTGCCTTTCCACAAACAACTTGGTTAGTTAATTTAATATTTTATTGCTATATCAGCGTCCAAGGCTTCATCACAAAAACAATTTGCAGTAATACAGAAGTTAAAAAAAAAATACAACTCCAAACGTTTACCACATTTTTCTAAACAAGCATCAAGGTTTTCCTAACTCCTCGTCTGTCTGCAGGAGTATGTTCTGGCCCACACCGAGATGCCCACCACTCTTGAAGGAGCCGAAGCTGCCATTAAGAAGCAGGAGGACTTTATGACCACTATGGACGCCAATGAAGACAAGATCAACGGTGTGGTGGAGGCCGGCAGGAGGCTGGCCAGTGATGGAAACATTAACGCTGACCGCATACAAGAGCGTGCAGCCTCCATTGATGACCG[G/A]TAACAAGACACCACTGTTGGGTGCCATTACTTCCCAACTATCTAGTTACTGTAATTAAATTGCTTTTCCGCTGAAGTTTTTAGGTAATTTAATTACAGTTACTTTTAATGCACTTAAATCCTGATTTAATGTCTTAATCCTGTACACAAATTCAACAGTTCTATACAAATCAATTCAGAGAAGTTGACTATATTGTCTTTGCATTGAGATTTATGTAGATTAGTATCAAGTCAAGTTATTAAATTACTAATTCAGTAACTAGGTTACTTTTAAGACAAAGTAATTAGAAAATTAATTTAAATACAGTTATATTGATGTAATTTGGGGTGTCACAGTGGCGCAGTGGGTAGCACGATCACCTCACAGCAAGAAGGTCGCTGGTTTGAGCCTCAACTGGCTTAGTAGGCATTTCTGTGTGGAGTATGTATGTCCTCACCATGTCCGTGTGGGTTCCTCCGGGTACTCCAGTTTCCCACACAAGTCCACAAGTGTGTATGGAC
Associated Phenotype:
Not determined