Busch Lab

ZMP

scn4aa

Ensembl ID:
ENSDARG00000008797
ZFIN ID:
ZDB-GENE-051201-2
Description:
Sodium channel protein type 4 subunit alpha A [Source:UniProtKB/Swiss-Prot;Acc:Q2XVR3]
Human Orthologue:
SCN4A
Human Description:
sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]
Mouse Orthologue:
Scn4a
Mouse Description:
sodium channel, voltage-gated, type IV, alpha Gene [Source:MGI Symbol;Acc:MGI:98250]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa1270 Essential Splice Site Available for shipment Available now
sa31853 Essential Splice Site Available for shipment Available now
sa13933 Essential Splice Site Available for shipment Available now
sa16761 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1270
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000010588 Essential Splice Site 500 1829 11 25
ENSDART00000106534 Essential Splice Site 500 1829 11 25
Genomic Location (Zv9):
Chromosome 12 (position 5983421)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 4839617
GRCz11 12 4874574
KASP Assay ID:
554-1185.1 (used for ordering genotyping assays)
KASP Sequence:
AAGAAAGCTTTACCATATTTAAACATGCTTACTATTTTATGTATCTTTCA[G/A]TTATCAGCAGAAGAGGACCAGAAGTCTCTGAGTTCAAAACACAGCATGCA
Long Flanking Sequence:
ATGCCAGTATGACTGATGTCATGCACCATGCCAGTCAGTTGCTTATTCAACTAGTCATTAGTCTAGCATCTCTTTTGCATTGTCACCATCGCACTGTGGTGCTAAAACTGCAGTGTAAATTGATCCAGTGATAGAATGTTATTGCAAACAATTGGTTGCTAAGGATGTTTATCAACCAACATCCAATCACGTGTCTCAAATTTACATGCATTAGACAATTATGAAATCATTGAACAAGGTATATGAACAGTAGTTTTAGCATTTGATGGGCAAGATACAGATACATGTTTAAAAGCATGATCATTTTGTCACAATATACTTTTTCGCATCACCCTTTTTCTCAGATAATTTCAAAATCTTAATTCAAAAAGTATTGTTTTGTTTACATGAAGTAATTTGAACTACAAACTAGAACATTGCTGTAATTGCATCACTATTAAAAAAACTGGCAAGAAAGCTTTACCATATTTAAACATGCTTACTATTTTATGTATCTTTCA[G/A]TTATCAGCAGAAGAGGACCAGAAGTCTCTGAGTTCAAAACACAGCATGCAGTACTTGGACCAGCCCAAACTCTCCAAGAGAACAGCTAGTGCTCTCAGTGTACTCACTGCAACTATGGAGGGTAACCTGGCTTAAAGAGTTACTGGCTTATATTCAATTCATTTTATATCTCATTAAGTAGCTTTGACACCTACCGTAGGAGCATATTTAGAAGCATTCTTAATAGGGATGCACAATAGTTTTGGAAAGCCCTTGAAATGAAAACATAGTATCAGACCGATATAAAAATAGTGCATTGACTAACTTTTTTGTCCTTTTTATAAAGAAATAACATGCACCCTTTGTTATGGTACTCTTGAACAATGACTGTTATGAATTGCATTAAATTGAGTTTAATTGAATTGAATTGAATTGAATTGAATTGAATTGAATTGAACTGAATTGAATTTAACATGCCAAGTAGCCAGAAACAATTCTGAAACCCAGTTCCAGTAGTGGAA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

Mutation Details

Allele Name:
sa31853
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000010588 Essential Splice Site 1396 1829 24 25
ENSDART00000106534 Essential Splice Site 1396 1829 24 25
ENSDART00000010588 Essential Splice Site 1396 1829 24 25
ENSDART00000106534 Essential Splice Site 1396 1829 24 25
Genomic Location (Zv9):
Chromosome 12 (position 5966591)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 4856447
GRCz11 12 4891404
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/C]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACATTAT
Long Flanking Sequence:
TGATTAACTGAAAGAATAATCAATATTTGTTTTTTCTGCACTTTGGAGGGAAAGACATTTTCATGACTGAGGAACAGAAAAAGTATTACAATGCCATGAAGAAGCTGGGTGCAAAGAAACGTCCAAAACCTATACCTCGACCATCAGTAAGAAACATTTTTAATTGATCCATTGCTGGATTTATAACTAAGTTATATTTATTAATGCAATCTTCTCTTCTCCAAACAGAATATTATCCAGGGTTTGGTGTTTGACTTCATATCAAAACAGTTCTTTGACATTTTTATCATGGTGCTAATCTGCCTCAACATGGTGACCATGATGATAGAGACGGATGACCAGAGTGCTGAGAAAGAATATGTCCTGTACCAGATCAATCTGGTCTTCATCGTCGTCTTCACAAGTGAATGTGTACTTAAATTATTTGCACTCAGACAGTACTTTTTCACTATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/C]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACATTATTAAATTGACATGTTTCGTTGCACTTTCTAAATGAAGTGTGCAGAGATTTTATGTTAAGTTTGAACCGAAACTGTTAAATGTGAAAGTGTTTTATCAGCTTATGGCTCATTCTCTTTAAATAAACCATGTTCTTAATATAAATATAATGCAATCAACTGTGAGATAAAAATATAACCATTTTAACTTGCTTTTGCAAGTATTTAGAACATTTCATGGAACTCACACCCAAATGCCACACATTGCAAGCGTGGTGTTATTTTTCCCCCAATGTGCTTATACTAGTATAAAATTAGTTGTTCAAGATTCAATTTCGTTCATCATAGAGATTTGGAAAATTGTATGTATTAAATGTTCTAAAAGGGTGTGTTCACACTTTTTTTTTGGTCGGAACTGAAAAAGAAAATTATACATTTAGTTCTGTTTGCTTAGGCTTCACACTTAAACTCTGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13933
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000010588 Essential Splice Site 1396 1829 24 25
ENSDART00000106534 Essential Splice Site 1396 1829 24 25
ENSDART00000010588 Essential Splice Site 1396 1829 24 25
ENSDART00000106534 Essential Splice Site 1396 1829 24 25
Genomic Location (Zv9):
Chromosome 12 (position 5966591)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 4856447
GRCz11 12 4891404
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/A]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACRTTAT
Long Flanking Sequence:
TGATTAACTGAAAGAATAATCAATATTTGTTTTTTCTGCACTTTGGAGGGAAAGACATTTTCATGACTGAGGAACAGAAAAAGTATTACAATGCCATGAAGAAGCTGGGTGCAAAGAAACGTCCAAAACCTATACCTCGACCATCAGTAAGAAACATTTTTAATTGATCCATTGCTGGATTTATAACTAAGTTATATTTATTAATGCAATCTTCTCTTCTCCAAACAGAATATTATCCAGGGTTTGGTGTTTGACTTCATATCAAAACAGTTCTTTGACATTTTTATCATGGTGCTAATCTGCCTCAACATGGTGACCATGATGATAGAGACGGATGACCAGAGTGCTGAGAAAGAATATGTCCTGTACCAGATCAATCTGGTCTTCATCGTCGTCTTCACAAGTGAATGTGTACTTAAATTATTTGCACTCAGACAGTACTTTTTCACTATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/A]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACATTATTAAATTGACATGTTTCGTTGCACTTTCTAAATGAAGTGTGCAGAGATTTTATGTTAAGTTTGAACCGAAACTGTTAAATGTGAAAGTGTTTTATCAGCTTATGGCTCATTCTCTTTAAATAAACCATGTTCTTAATATAAATATAATGCAATCAACTGTGAGATAAAAATATAACCATTTTAACTTGCTTTTGCAAGTATTTAGAACATTTCATGGAACTCACACCCAAATGCCACACATTGCAAGCGTGGTGTTATTTTTCCCCCAATGTGCTTATACTAGTATAAAATTAGTTGTTCAAGATTCAATTTCGTTCATCATAGAGATTTGGAAAATTGTATGTATTAAATGTTCTAAAAGGGTGTGTTCACACTTTTTTTTTGGTCGGAACTGAAAAAGAAAATTATACATTTAGTTCTGTTTGCTTAGGCTTCACACTTAAACTCTGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16761
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
ENSDART00000010588 Nonsense 1472 1829 25 25
ENSDART00000106534 Nonsense 1472 1829 25 25
Genomic Location (Zv9):
Chromosome 12 (position 5965646)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 4857392
GRCz11 12 4892349
KASP Assay ID:
2260-4908.1 (used for ordering genotyping assays)
KASP Sequence:
TTCCTGATCATGTTCATCTTCTCCATCTTTGGMATGTCTAACTTTGCCTA[T/A]GTGAAAAAGCAGGCAGGCATCGATGACATCTTCAACTTTGAAACATTTGG
Long Flanking Sequence:
AAAAGAAAATTATACATTTAGTTCTGTTTGCTTAGGCTTCACACTTAAACTCTGTAAATAGGGTAGTAAAAAGGATGCCTGTAGTCTGTATTTACATGTGATGGGTACATCATGACTATGATGAGAACAAACAGATAAGTTCACACTTACCCAAATGAACCACAATAATTGAATCAAACCTGCCAAGTGTGAATACACCCTGAGTGTGCCTCTGTGTAAACTCTCCTACTGTTATTGCTCTAAGTAAAACCGCAATTTCCTCTTTCCCTAGGTCTAATGTTATCAGACATCATTGAGAAGTACTTTGTGTCTCCTACTTTGTTTCGTGTCATCAGACTTGCAAGAATCGGCCGTGTGCTGCGTCTCATCAGAGGGGCGAAGGGCATTCGGACCCTTTTGTTTGCCTTGATGATGTCACTTCCTGCCCTTTTCAACATTGGACTGCTTCTGTTCCTGATCATGTTCATCTTCTCCATCTTTGGCATGTCTAACTTTGCCTA[T/A]GTGAAAAAGCAGGCAGGCATCGATGACATCTTCAACTTTGAAACATTTGGTGGCAGCATTATCTGCCTGTTTGAGATCACAACCTCGGCAGGCTGGGACGGCCTTCTGCTGCCTATTCTAAACAGTGGCCCTCCTGATTGTGACCCTGACTTTGAAAACCCTGGTACAGATGTGCGGGGAAACTGCGGGAATCCTGGCATGGGCATCATGTTTTTCTGCAGTTACATCATCATGTCATTCCTGGTGGTCGTGAACATGTACATCGCCATCATTCTGGAGAACTTCAACAATGCTCAAGAGGAAAGTGGAGACCCGCTCTGTGAGGATGACTTTGATATGTTTGATGAAACATGGGAAAAGTTTGACGTCGATGCTACGCAGTTTATTGAATACGACCGCTTGTTTGACTTTGTCGATGCCCTGCAGGAGCCTTTACGAATTGCCAAACCCAACCGTCTCAAGCTGATCTCCATGGACATCCCCATTGTAAACGGCGACAA
Associated Phenotype:
Not determined