ZMP

efcab2

Ensembl ID:

ENSDARG00000074323

ZFIN ID:

ZDB-GENE-070521-5

Human Orthologue:

EFCAB2

Human Description:

EF-hand calcium binding domain 2 [Source:HGNC Symbol;Acc:28166]

Mouse Orthologue:

Efcab2

Mouse Description:

EF-hand calcium binding domain 2 Gene [Source:MGI Symbol;Acc:MGI:1915476]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa6142	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa31010	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa11337	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa6142

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113669	Essential Splice Site	41	168	3	7

Genomic Location (Zv9):

Chromosome 17 (position 11364595)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	11347117
GRCz11	17	11501183

KASP Assay ID:

554-3693.1 (used for ordering genotyping assays)

KASP Sequence:

ATGTTCTACAAACAAGGAAGACTTCTTTAATGTTRTCTGTCATTTTTCAC[C/T]GTAAAAGGGAAATAGGCACCATCATTCGTTCACTTGGCTGTTTTCCTTCA

Long Flanking Sequence:

AAAATGCTACGCTTTTTTTACGTTTGTGGGCTTACTGTATGCTTATTAATGGTGTTTGTATTCTCAGCATGACGTGTTTTTAAATACAGTTGCCATTACTACGACTGTTACCAGATCAATGATGTTTGAAAAGTTTTCAGTAACGTTGTTTGTTAACGTCGAGTAGTTAAAGTAACAGTAAAAGACCACACAGACAGCGAACATCTACAGCTGAATTGCTTTGTAAACACACACACACAAAATAAAATAAAAATGCGGAAAAACACAACGTTAATTAATGTATTTTTTATCAGAAAATATTATAATAGAAACTCAAAAGAGGATTGGGAATGCCTTTGATGTATTTGACCATGAATCCAACAAGACTGTTGATGTCAGGTAACGTTTCACTACGCTGTTTTTCAAAATATATTAGACCATTTGTTGATGTCTGTTAGCTTTGTTCTGCACATGTTCTACAAACAAGGAAGACTTCTTTAATGTTATCTGTCATTTTTCAC[C/T]GTAAAAGGGAAATAGGCACCATCATTCGTTCACTTGGCTGTTTTCCTTCAGAAGCTGAATTGCATGATATCATCTCTGAGGTCAGTGGTTTTGTTTTGCCGGGTCATAAAATGCATCGCTCTTGTAAGTTGAGTAGATCAATAGTTATGAAGTGTCATTTCATTCACAGCTAGAAGAAGAAGAACCCACTGGATTTGTGCGCTATGAGAAGTTTCTTCCAACTATGACTAAGATCCTGCTGGAGCGCAAGTAAGACTGTAATGAAATAAAACAGTATGAAACCCAGATTATTCTTAATGTTTTTAAAAGGTCACAGACTGATAAATCACACAAATGCATCTATATATTTATATACAGTCTAACTCAAAATTATTAGCTGTCCTGTAAATAATTTTTTCTTACTCAGTTATTTTTAAATTGATATTCAACAGAGCAAGGATTTTTTTTTTCTTCTAGCAAAAGTCTTATTTGTTTTATTTTGGCTAAAATAATGGTCTTTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa31010

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
ENSDART00000113669	Essential Splice Site	130	168	6	7

Genomic Location (Zv9):

Chromosome 17 (position 11367085)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	11349607
GRCz11	17	11503673

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AAAAGGACACCTGGAACCAGCAGAACTGGCCAAATACTTAACACAAGAAG[G/A]TGAGACTATAACAAAGTGTTGTCCTGGATTTTAAGATTCTTCCAATATTT

Long Flanking Sequence:

TTTTGGGTCTAATGGCTGGAACAGCTTAGGGCCCCAAAATCACTAAATCCATCCCTGAGACGTACAGTATATGACTATAAGTGTTTTAACATAATTTGCAGTACCTGTAAAAACTTAAAACTAAAATAAAATAAACATTTGATTAAATAAATATTTACTTTGCTAAAGTTTTTCCCACAATAAAATTTAATACAAAGCCTAGTATTAGTGATAATTGTAGCTCTGCTTCTTTCTTTTTTCTTGCAGGTTTCGTCCTATTACAGAAGACCTGCTCATACAGGCTTTTGAGGTGAGGCTGTTTTGTTTTTTAATTTTTAATGTGTGAATTTACCTTGTTAACATGTGAAACTTTTAGCAGTGTCAAAGACACTATGCAAGACACCTAAGACCAGTGCATTGATTTAATGGACTGTACTTTAATCTAATCTTAAAGGTTTTAGATCAACAGAAAAAAGGACACCTGGAACCAGCAGAACTGGCCAAATACTTAACACAAGAAG[G/A]TGAGACTATAACAAAGTGTTGTCCTGGATTTTAAGATTCTTCCAATATTTTGTAATTGCACATGTGCAGTGCTCTTTGTCTTTGCTGGATTACTATAATTCTTTATATTTGAGTATAAGCGGGTCTTCTTTGGCTCCCCTGAAGTTGGTGCAGCACATCTTTTGACAGGGAGTCGCAAATTTGTTCACATCACTCTCATTTTATCTTCCCTTCTCTTGCTGCCTGTACAATACAGAATTCATTTTAAAACTCCTTTGTTTGTTTTTTAAATCTATAAATGAGTCTGCCCCTCCTTTTATATCAGACCTGCTTCACCCTTAATTACCCTCTCGCTCTCTCAGATCAGCAGATCAGCTGCTTCTTAGAGTGCCAAATGCTAACCGTAAGCTCAGTGCAGACTAAACATTTGCTGTGGCTGGACCCAGCCCTGCAGGCACAGAACGTCAACATGACGTCCTATTGAAGTTGTACCCCAATGTACCCCAACGTTGTGGGGACGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa11337

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113669	Nonsense	156	168	7	7

Genomic Location (Zv9):

Chromosome 17 (position 11368350)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	11350872
GRCz11	17	11504938

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GATGAAATGCTGTCTGCTGCTGTTGATCCTGWTAAAAATGTCATTTTCTA[C/A]AAGGACTTTGTGAGCATGATGACTTATDATGACACCCGATAATCAAACAA

Long Flanking Sequence:

AATTTGGTCACCTGACGTCATGGCCTTAATCTAACCTAATATTAAAACACTTTATGATGTTGTGTGCCTGCCGGGAGATTATGGAATGCTTTGCCTCTTTACATTATGCAGGCCACTTCATTGTTTATGTTCAAATCCCATCTTTTCTCCTTGCCCTTTGACACTTGATTTTCTATTTTAGATAGTGTTTTAAATAGTATTGTGTTTGTTTTCTTTGTTTCAAGCATAATTTATGAGTCTTGTGCTGTTTTGTGAGCTCTTTTTACTGTATTGGTCTGCTCTTTGGTGGTTAAGTGCTTTATAAATACAGTTTGATTGATTAATTGATTTGTCAGACAATTTAATAACAAAATAAACCCATGCTTTCGCTCACTAATGCTGATGCTTTCAGTTGATCAAATAAAATCTTCCTTTTGCATTGAAGGAGAGCCCTTCACACAGGAAGAGATGGATGAAATGCTGTCTGCTGCTGTTGATCCTGATAAAAATGTCATTTTCTA[C/A]AAGGACTTTGTGAGCATGATGACTTATGATGACACCCGATAATCAAACAAACAAGTAGTTTAGGGAGTTTCAAACAATGTATTATAAACAAAATCATCTCAATCACCATAATAAATAATTTACTGTTCATCTTATTTAGTCTCTTTATGTGGTTTGCAATGCCTAAATACTCTTTCTCTATCAAATAGTTGAACATTATAGCATTTTACCTTATAGCTTTTGAAGTAGAATATATGAAAGATGGAAAGGGTATATCATATGATAATAATTAATCATTCATGCTATTAATGAGGCAGGTTTTCTAAGGCCAACTGTGTGTCTGATAGCCTCATTATGAAGTCAGTGTGTGATGTCTTTCTTCTTTCCGTTTCATTAGCAGAGTCTGATACAGTTTTTGTGAAGCGGTGACATATTCTCGCAGCTCATTTTTTCCTAATTAACCTGTGCCCCTGCGTCCATCTCTGTGGGGCAGAAGAAACTGCCTTCCGTGAACTGACCAG

Associated Phenotype:

Not determined