Busch Lab

ZMP

si:ch211-197n1.2

Ensembl ID:
ENSDARG00000042937
ZFIN ID:
ZDB-GENE-080225-6
Description:
Novel protein (Im:7149000) [Source:UniProtKB/TrEMBL;Acc:B8JK25]
Human Orthologue:
EFCAB6
Human Description:
EF-hand calcium binding domain 6 [Source:HGNC Symbol;Acc:24204]
Mouse Orthologue:
Efcab6
Mouse Description:
EF-hand calcium binding domain 6 Gene [Source:MGI Symbol;Acc:MGI:1924877]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa31200 Nonsense Available for shipment Available now
sa32638 Essential Splice Site Available for shipment Available now
sa13689 Nonsense Available for shipment Available now
sa12598 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa31200
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043484 None None 355 None 7
ENSDART00000114386 Nonsense 121 890 2 18

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 16415028)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 16980196
GRCz11 1 17673133
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGCAGCTTCAGAGAATCGCTCTATAAGCAGAGCTTCCCTTTCAACATA[C/A]TCCAGCATTGGGCCATGGAAGACAGATCAGACTGATCAGGTAGTGCACAC
Long Flanking Sequence:
TCTATAAATACTACATTAATAAAAGCAGTATCTGAAACGTGTACGGGTATTTATATTATATTTGCATTGTAATGATTTCATGAAAACTATCAAGTCTTAAAAATATGTGATCGTCCACCCAAATATGAAAATGAAGTAATTGTCTACTCATCCTCCACTTCCAAACCTGTTTGGGTTTCTTTCTTCTGTTAAACACAAAGGCTTAAACACAAAAATAATTAATAAAAAAGAATATTGAATAATATAAATATTTGCATGCCAGCTTTCACCCCAATTTTAAAACCACTTGATTGTGAATAATTCAATTCAATTCATCTTTATTTATATAGTGCTACAATGTAGATTGTGCCAAAGCAGCTTGTAATGGTGAGGATGTTTTTATTTTTGGGGTAATCTATACCTTTAAATGCAGTATTTAATGGTAAACTAAATTTGTTTGATACAGGTCACAGGGCAGCTTCAGAGAATCGCTCTATAAGCAGAGCTTCCCTTTCAACATA[C/A]TCCAGCATTGGGCCATGGAAGACAGATCAGACTGATCAGGTAGTGCACACATTTAACTCATGATATCTTGATAACTATATTTTAAAAGTGTTATGGATTTAAAATTAAACATTTATTTAAAATGGATTTAAATACTCCAATAATAACTGAGCACTAAATCAGATTACTAAAGCATTATGTGACATTGACAACTGATGTAATGCCTGACATTTGCAAATGATATTTGTCATTTTAAATTATAATAATACGCTGAAAACAAATCTGTATTATAACAAATAATTAGTTTTTTTTTTTGTTTGTGATTTAAGCCCAATATTTAATTTATTTCCAAAATATTGGCCATCACCATCAACAAGGGTAGTGTGTAAAGGAAGCACCTCGGTGGTATGGTCCTGTTAAGGGTTGTTCATGTTCTGAGCTCAAAATAAAAAGGTTAACAGATAGTGCTGTCTCCTACCTGCTTATTCTGCTAGATTGCTGACAACAGAGACACTCAGGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32638
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
ENSDART00000043484 None None 355 None 7
ENSDART00000114386 Essential Splice Site 381 890 8 18

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 16404855)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 16970023
GRCz11 1 17662960
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGGATGAAGGCAGAGTTTGATAAACTGGATCCTGAAAGCACCGGAAAG[G/A]TAGCAAACAGTGTCACACCTCTCAAACAAACAGGTAGAAAAATGGTAATC
Long Flanking Sequence:
TGATCATCATTTGCTCACACTTAAGTGGCTCTAAACTTTTATCAGTTCCTCTCTTCTGTGGACCACAAACAGATGTGCTGATGAATTTTTGGGGGCAATTAGGGGGTTGGAGGGGAGTTAGGTAAGTCAATGTTTTTCCAACATTCTTTATTATATTTTCTTTTGCATTCAAAAGAAGAAACTCAAACATGCTCAAAACAAGTAAAGGTTGAAAAAATAACTTTCCCCCTTTAAATCTCCTAAAATAATAACTCTTTGCTTGGTATAATTGGAACCTATAACCAAAGATTAAATGAGACCTGTCTGTAGAGACTTTGCATGATCATTGAATACATTCTTACTTGTCTTTTCCAGCAGCTCCTGGAAGGACACTGCCTAAAGCAGAAGAGGAGCGTCACACATCCATCGCCATTGAAACATGGCTGAAGGACAGATTTAGGGATGGAGCTCAAAGGATGAAGGCAGAGTTTGATAAACTGGATCCTGAAAGCACCGGAAAG[G/A]TAGCAAACAGTGTCACACCTCTCAAACAAACAGGTAGAAAAATGGTAATCATATTGAAGTGTTAGGTCAACCAAAAATGAAAACTCTGTTATTATATACTCACCTTAATGTTGTTTCAATCCTTGAGACTTTTGCTTATTTTTGCAACACAAATTGACCTTTTTGGCAGTTTGATAGACAGGCGATCCAGCTAGTCGTAATGCTGATATTCTGTGCCCCAATCACTTTCTGCTATTTTGTCTGACAGGCATCATAATAGAACAAAACTGGTGATTGACATGGCGGTGTGCTTGTATGGAACTTGCAATGCCGGTTCAGGAAGGCTGGGCAGTTTACAATTCCATCCTTTCCCAAAACTTAGAGAACTGTGTGGATATGTTTGTGTGCCAATCAATAGTGCTGTCTCTCATTACTGCTGGACGAATTACTTAAAAAGCAAAGATTTACAACTTGTAAACTAATCTTTTCTGTTATTGTACTGGGACAGCCAGCATAACTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13689
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
ENSDART00000043484 None None 355 None 7
ENSDART00000114386 Nonsense 396 890 9 18

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 16401389)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 16966557
GRCz11 1 17659494
KASP Assay ID:
2259-0387.1 (used for ordering genotyping assays)
KASP Sequence:
TTTGCAGGTGAGAGGTGCGGACTTTCTGCAGGTGTTGGGAAAGTTTGAWT[T/A]GCAWCTGAAAAGAGAGCAGCTGGGTCTGTTTCTGTCTCGCTGTGGTCTGA
Long Flanking Sequence:
TACAAAACTCCATGAACTCTTTTGTGTTCCAAACAAGAACTGTATATATGACAATGTGCACCCTATGTCTTCTCTCCTCAGGGTATGCATTTACTATGGGGAGGGTGGCATATTGCCATTACAGTCAGCATCACAACACACAAGCCCCATACTGTTTGTAGAAAATATGCACCTTAATACGATATAGGCAAACAAAGTTTGAAATTTTTGAAATTTTTCAGTTGTTGGCTTTACTTGGAGCTTAATATGAGTATGTTTTACTACTGATGTCACATTGATGTTTTCACAGAGTTTTTGGAGCTAAGGCCAATTCTGTCTGGATGAGAGAACACTCAGATTTCATCTAAATATCTTAATGTGTATTCTGAAGATGAACAAAAGTCTCAGGGGATTGGAATAACCATTTTCATTTTTAAGCTAACCAACCCTTTAATGTATGAAAATGGCATGTTTGCAGGTGAGAGGTGCGGACTTTCTGCAGGTGTTGGGAAAGTTTGATT[T/A]GCATCTGAAAAGAGAGCAGCTGGGTCTGTTTCTGTCTCGCTGTGGTCTGAAGATTAAAAAGGGTTGCGTGCAGTATTTGAACTTCCTGCGGACCTTCCAGGACAGAAGCTCAGATGGCATTACTCACAAGATCATCTACAACCCAAAACACCGGTCAGATTTACAACATAGCAATGTCCTAATTTTATTTATTCATATGGACTATTGATCCCTCCAGTTTTTATTAAATCACCTGCAGTTCAGAAAAGTAGAATTCATTTTGCACACATCAGAAGCAATCACGCACATTTCTGAGTTGTTTATGAATGTAGTGACCAATCAAAGGCATTAGTCACAGTTGCCTGTTTACACTTGCAGTATGTCATCATAAACAGCATAGTCAGATTATGACATGGTTTCACCAAGCACAAAAATTGTTGTGTGTGTGTTCTATTTATTGTTATTAATAGTCATTATTGCAAAATCTGGAGCTGTAAAAGACAGCAAGGATTTTTTTTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12598
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043484 Nonsense 163 355 4 7
ENSDART00000114386 Nonsense 698 890 15 18
Genomic Location (Zv9):
Chromosome 1 (position 16366038)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 16931206
GRCz11 1 17624143
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAACAGACTCAGCTATGTCTCAGATATRCTGGTGGATGCTCTGCGGGCC[A/T]AGGTRAGGCTGTACTKTMAAAATACTCACTGTAAGAGTTCARATTACTCW
Long Flanking Sequence:
CTCGCAGTACAGTCCTTTCTTCAGGCGTGACACTGTGTTTGTGCATCTGTGTGAGAGAAACTGTTGCTTCTGTGCTTTTGGTTGCCAAGTTTTAGCTGAAATGCAGCTCATATAAAAGGGGTGAGGGGTTTCTCAGAGTCTATGTAGTTGGTGGGGGTTGAGGGGGGAAAGTACAGTGTCTGTTTTCTTCTAAGAAGTTGAGGTTTGTTCATAATTCCTATTAATCTCAACTATTATTAATTCCTCTCATCCCGCTCAGGTTAGTGCCCCATCAAGAGGTGACTCGTGGAGAGGTGCGGAGGTTGTGGTCCTCTTTGTTCACCCAGCAGGATGGCACTGTAGACTTTCAACAGTTTTTACGTCACTTTGGCCCATCGCCCAGATCCTGCTGTTTCCCTAATGCCAAGCGCAATCCCCCGAAACGAGGAGACAATGACTTCATGCGTCTCTCCAACAGACTCAGCTATGTCTCAGATATACTGGTGGATGCTCTGCGGGCC[A/T]AGGTAAGGCTGTACTGTAAAAATACTCACTGTAAGAGTTCAGATTACTCAAAACATTTGTCATTTTTCACACAAATTCTTACATAAAAGAACATACTTCTATTTTATTTTAACCATTTCCCATTCACACAGCTTTCAGCCTCAGTATACTCCAGTGGTGTAAAGTAATGAATTACAAATACTCAAATACTGTAATTTAGTAGTTTCTCTCAGGAATGGTGATTTACTAAGTAGTTTTAAGAATGTGTACTTTTACTTGAGAACATTTTAGTTCTGAAATCTGTACTTTTACTGCTCTATGTTCCTTCAACCTGCAGTCACTGCTTTATTCGGTTCTTTTCTATGGTTATTGGCTAAGTAGAAAAGTCTGTCCCATGATTCCTGCACAATCAAATCACGATTAGAAAAATTATATCAGACAAAGCGACCCCAAGACACAGATGCTTTATAAAAGCAGCAAACATCAAGTGAGGAAGCATTAAAAGTGTCCAAGAAGACACT
Associated Phenotype:
Not determined