Busch Lab

ZMP

NP_001093459.1

Ensembl ID:
ENSDARG00000053956
Description:
spectrin beta chain, brain 1 [Source:RefSeq peptide;Acc:NP_001093459]
Human Orthologue:
SPTBN2
Human Description:
spectrin, beta, non-erythrocytic 2 [Source:HGNC Symbol;Acc:11276]
Mouse Orthologue:
Spnb3
Mouse Description:
spectrin beta 3 Gene [Source:MGI Symbol;Acc:MGI:1313261]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa12446 Nonsense Available for shipment Available now
sa40508 Nonsense Mutation detected in F1 DNA Not yet available
sa40509 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa40510 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa12446
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097723 Nonsense 129 2393 3 42
Genomic Location (Zv9):
Chromosome 5 (position 39277426)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 37077110
GRCz11 5 37677263
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGGATCGGTGACCTYTACACTGAYCTCCGCGATGGACGCATGCTYATT[C/T]GACTGCTGGAGGTTCTCTCCGGGGAACAACTGGTCAGTATACCTTCAGTC
Long Flanking Sequence:
GGTGCGCTGCAGTAATTGAGTTGCTTTAATAGAGTTTAGAGTTACAGTCAGTCCTTGGTCACTGCATGTCATTCATGAATGTTCATTTTATGCACTGTTGTAAAATTCAGGTCCTGACATGGCTTGTGTTATATAGTATTATGGAGAATTGTTTTCCAGCCTTTAAATTGGGCACCTATTACTACTACTATTTATTATATGTTTGTATTTGTGGGGGGATAATGTTTTTAGATTCATTTACAGTGTTAATGGTTATTGGATGTTGCTTTTTCTCTAAAATGATTATGCTACAAATGATTAACTACACAGAATTAAGCTGCTAGGTTTACAGATGTTAGGCTACAGATTGTTCTTTGACCTCCAAACCTCTTTTTTTTCCAGATGAGAGAGAGGCAGTGCAGAAGAAGACCTTCACTAAATGGGTGAACTCTCACCTGGGTCGTGTGACCTGCAGGATCGGTGACCTCTACACTGACCTCCGCGATGGACGCATGCTTATT[C/T]GACTGCTGGAGGTTCTCTCCGGGGAACAACTGGTCAGTATACCTTCAGTCATTCCATCAATCCATGGAGTCATCAGTCCGTCTGTGCATCTATGCTTATTTCCATCAATTTTCATTGCATATTTTTAGCTATATGTGCATTCATTCATTCATTGCTTGGATCATTCATCCATCCATGTATCTATGCTTCAACCTTTTTATTCATTTCCATTCATCCATATTTAATGCATCCATCCATTCCTCCTCATTCAATCCACCCATCATCCATCATTTAATGCATCCATCCATCCATGTTTATTCAATGCATCCATTCATCCATATATCCTTTAATGCGTGCATCTATTCATCCATCCATGTTTAATGCATCCATATATTCAGCCATCCATTCAAGTTAAATGCATCCATCCATCCATCCATCCATGTTCAATGCATCCATCTATCCATCCATACCATACATGTTCAATGCATCCATCCATCCATTCATCCATCCATGTTTAATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40508
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097723 Nonsense 695 2393 14 42
Genomic Location (Zv9):
Chromosome 5 (position 39288391)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 37088075
GRCz11 5 37688228
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACTCTGGCAGTTCCTGTGGGAGCTGGGAGAAGAGGCCGCCTGGATCCGA[G/T]AGCAGGAGCAGATCATCTCTGGAGGAGACTACGGTAAAGATCTGAGCTCC
Long Flanking Sequence:
GTTTGCAATCTCAGGACAGTGGAAAACACCTTCATGATGTGGAAGACTTGCTCCAGAAGCACACACTGGTGGAAGCTGATATATCTGCACAGGCTGAGAGAGTCAAAGCTGTTCAGGCCACTGCAAAGAGATTTGCTTCAAATGAACAGAGTAAGGATACTTCCCACAAACTATATAGATCAGTTTTTTTATCCATGTTCATGGTGGACCTCCAGCTCTGCACATTTTCCATGTCTCCTGGTGGTCCTCCAGGAATGTGGTTGAGAAACACTGATATATATTCTTGAAATTGTGTTCAAGATCAAAACACAGTGGCTTCTCTTATTGCTTTAGGTTACAAGCCATGTGACCCAGCACTGGTTGAAGAGAAAGTGGATCTTCTGGGTCGAGCGTATGGAGAACTGGGCCAGCTGGCTGCGGATCGACGAGTTCGTCTAGATGACTCCCGAAGACTCTGGCAGTTCCTGTGGGAGCTGGGAGAAGAGGCCGCCTGGATCCGA[G/T]AGCAGGAGCAGATCATCTCTGGAGGAGACTACGGTAAAGATCTGAGCTCCGCTCTTCACCTCCTGTCTAAACATGAGGCTTTTCGGGATGAGATGGCAGCTCGGTATGGCCCTCTGGGGAACAGCATTGCTGGTGGAGAAGCCCTGGTGAAGGAAGGCCACGTTGGAGCACCTGAGGTGACTGAGAGGATTAAAGATGTGAGAGCACAGTGGTCACACCTAGAGGAGGTAAATAAGAAAATAAACACACTTTATAATCTAGCTTCACTGTCTTATTCCACGATTAACACTCTATCTCTCTTTTCACAGGCCTCACAGTTGCGGGAGCAGAGCCTGAATGAGTCTGTTGCTTTCCATCAATTCCAGACTGACGCCAATGACATGGAGGCTTGGATACTGGAAACATTAAGACAGGTAAAATAAGAACTGTTCTGTTGAGTAGTTTCTATTCTGAGATTTTTCTTTTTTATAGCGAGTTAGTGTTACACAGCATAGTTGCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40509
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097723 Essential Splice Site 975 2393 18 42
Genomic Location (Zv9):
Chromosome 5 (position 39291056)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 37090740
GRCz11 5 37690893
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCGCAACAAAGACCAGATTGACCAGACACAAAACCAACTCAATAACAGG[T/C]ACCGTCACCAACACAGAGAGCAGAGCCTCTAAAAACAAACATGTGTACAA
Long Flanking Sequence:
CCAGATTTTTAAATGCTAGTGTGTATTATACATAGTATGTATTTTTAAGCCTGCTTAATTTCTTTTACAGGTGGAGGGTCGTCTCCCAGCAATAGAGCAGCGATATGAGGAGTTAGAGGGGTTGTCGTCGTCATGGCGACAGGCCTTGGATGGAGCGCTTGCGTTATATCGCATGTTTAGTGAAGCTAGTGCCTGCCAACTGTGGGTTGGAGAAAAAGAGCAGTGGCTACACAACATGGAGATTCCCACCAAACTGGAGGATCTGGAGGTGATCCAGCAGAGGTGAGAACAGAGAGAATAACATTTCTGTGAGTTTTGATGAGGCGTATATTGGTGTAATATGGCTTGTTTTGTTTTGAAGGTTTGATACTCTGGAGCCCGAGATGAACACATTGGGTGGACGCATTTCTGATGTCAATCAAGTTGCCCAACAGCTGCTTGGGTCAGACAACCGCAACAAAGACCAGATTGACCAGACACAAAACCAACTCAATAACAGG[T/C]ACCGTCACCAACACAGAGAGCAGAGCCTCTAAAAACAAACATGTGTACAAACATGTTCATAATGCTAATATGATTAATAAGATAACCTTACATTTCTTCTTCCTCATCCTCTTCTGCAGGTGGTCTGATTTCCAGAGTCTGGCCAACCAGCGTAAACAAGCTCTAGAATCGGCTCTAAATATTCAGAACTATCATCTGGAATGTAATGAGATCAAGAGCTGGATGAAGGAGAAGACCAAGGTCATCGAGTCCACACAGAGTCTTGGAAATGACCTGGCTGGAGTTATGGCCCTACAGCGCAAGCTCACTGGAATGGAGAGAGACCTGGAAGCCATACAGGTACAAAAATGTGCATCAGGTCAAATGCAATCATGAAGAGACCCAATCATGTTCCATCCTTAAACTCATATTTTTTCCTTTCACTTTCGCAGGGTAAGTTGGATGACCTGCGTTCGGAAGCCAAAAAGTTAGTATCTGAGCATCCTGAGCAGGAGGAAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40510
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097723 Essential Splice Site 1048 2393 19 42
Genomic Location (Zv9):
Chromosome 5 (position 39291396)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 37091080
GRCz11 5 37691233
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCTACAGCGCAAGCTCACTGGAATGGAGAGAGACCTGGAAGCCATACAG[G/T]TACAAAAATGTGCATCAGGTCAAATGCAATCATGAAGAGACCCAATCATG
Long Flanking Sequence:
ATGGCTTGTTTTGTTTTGAAGGTTTGATACTCTGGAGCCCGAGATGAACACATTGGGTGGACGCATTTCTGATGTCAATCAAGTTGCCCAACAGCTGCTTGGGTCAGACAACCGCAACAAAGACCAGATTGACCAGACACAAAACCAACTCAATAACAGGTACCGTCACCAACACAGAGAGCAGAGCCTCTAAAAACAAACATGTGTACAAACATGTTCATAATGCTAATATGATTAATAAGATAACCTTACATTTCTTCTTCCTCATCCTCTTCTGCAGGTGGTCTGATTTCCAGAGTCTGGCCAACCAGCGTAAACAAGCTCTAGAATCGGCTCTAAATATTCAGAACTATCATCTGGAATGTAATGAGATCAAGAGCTGGATGAAGGAGAAGACCAAGGTCATCGAGTCCACACAGAGTCTTGGAAATGACCTGGCTGGAGTTATGGCCCTACAGCGCAAGCTCACTGGAATGGAGAGAGACCTGGAAGCCATACAG[G/T]TACAAAAATGTGCATCAGGTCAAATGCAATCATGAAGAGACCCAATCATGTTCCATCCTTAAACTCATATTTTTTCCTTTCACTTTCGCAGGGTAAGTTGGATGACCTGCGTTCGGAAGCCAAAAAGTTAGTATCTGAGCATCCTGAGCAGGAGGAAGAGATCAAGGGTCAGCTGGCTGAGATCCAGGAGGTGTGGGAGGAACTTCGTGCCACCATGAAACGGCGTGAGGAGTCTTTGGGTGAAGCTTCCAAGCTTCAGGGCTTTCTTCGAGATCTTGATGACTTCCAGGCCTGGCTGTCTCGTACACAGACCACCGTGGCGTCCGAGGACACACCGACCTCTCTGGCGGAAGCAGAGCGTCTGCTGGCTCAACATGAGGCCATAAAGAATGAAGTGGATAATTATAAAGAAGATTATGAGAAGATGAGAGCTACTGGAGCTGAGGTCAGTTGGCGTCAACTTAGTTTAAGAAATGCAGTTACTGGCACTCACTTCCATT
Associated Phenotype:
Not determined