ZMP

LOC568356

Ensembl ID:

ENSDARG00000055284

Human Orthologue:

AFAP1

Human Description:

actin filament associated protein 1 [Source:HGNC Symbol;Acc:24017]

Mouse Orthologue:

Afap1

Mouse Description:

actin filament associated protein 1 Gene [Source:MGI Symbol;Acc:MGI:1917542]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa35294	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa42030	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa35294

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
ENSDART00000077580	Essential Splice Site	268	723	6	16
ENSDART00000130594	Essential Splice Site	273	807	6	17

Genomic Location (Zv9):

Chromosome 12 (position 24244187)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	22773705
GRCz11	12	22894924

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCGACGGAGCTGGCTCTGGATCCACTGTTCACAAGGCAGAGCTGGAAAAG[G/A]TGCAATTTCATAATTATATTTATGGATAATACTTTCTGTGTGTGTGTGTG

Long Flanking Sequence:

CTTTAGTTTGATTTGATGAAACCTGCAGAGTCACTTTTTTCAACTGCAGAGTTGAATTTTCTACATCAAAAGTGGACAGAGCAGAGATCAAGGTCCTATAATGCAATACATAATCATAAATATATGGTACACACAAAACACGGAAACTGTTAATTAACAGATATTTTTTACAATGTACATCCCAGATAGACTGTACATGCCAGATAAAGACGTATGGTAACCTGGCTATACATAATTAAGATATTTTTAAATTTGTGTGATTGTTCATAATTTTATACAATAATCACATGAGGATTTCTGCTCTTTATTTTAAATAGAACAAGCCATTTCATTAGATTTCAATATGGAATATCGAGTTTCTGCCTTTTATTTTGCACTTTAACTTTCTGTTCTGTGGTTTCTTAAAGGTGATGAAAGAAGTCTGCTCGAATGGAAATGGAGTGGTGGATTGCGACGGAGCTGGCTCTGGATCCACTGTTCACAAGGCAGAGCTGGAAAAG[G/A]TGCAATTTCATAATTATATTTATGGATAATACTTTCTGTGTGTGTGTGTGTATTTACCATGCCTCCAGACGATACGCAGGTCTACCTACATGCAGGTTTGTGTGGCGGTTTGCATGCTTGCCAGCTTCACCACTCCTCAATACCGGCGCCTCCTCTCTGTACTCCTGTACAGTGGCTCTGCCAGGGCATGGAGGGCTATAAAAGCTGCATATGCATATACCAAATTCCATCGTGCCACGGATGTGTGCCAGGTTAAATACTGTAGGTGTGACGGGAAATGTGATCTTATCTTTTTAAGAACACATTCTTTAGTACTGGTAAGCTGTGACATTATTTTTGCAGCGTGTGCGTGTTGCACTTGTTTATGCGTGTGTTTTAAGATATATCTCATGGGGTTTAATGTCAAACCTCTTAAACTGGCACAGCATGCATGAGCCTAGTCTAATTATTCACACTTAATGCAAAACAGATGCTCTTTGAGTTTTGTTTGGGTAGACTGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42030

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000077580	Nonsense	272	723	7	16
ENSDART00000130594	Nonsense	277	807	7	17

Genomic Location (Zv9):

Chromosome 12 (position 24244902)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	22774420
GRCz11	12	22895639

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACGGCTATGGATATCTGAAACATTATTCTTGTTTTGCAGAAGCTGTCCTG[C/A]GATCGGCCCAGTTCAGATGGAGAGCCCTGCCATGAAAACGGCATCTCAGA

Long Flanking Sequence:

ATATACCAAATTCCATCGTGCCACGGATGTGTGCCAGGTTAAATACTGTAGGTGTGACGGGAAATGTGATCTTATCTTTTTAAGAACACATTCTTTAGTACTGGTAAGCTGTGACATTATTTTTGCAGCGTGTGCGTGTTGCACTTGTTTATGCGTGTGTTTTAAGATATATCTCATGGGGTTTAATGTCAAACCTCTTAAACTGGCACAGCATGCATGAGCCTAGTCTAATTATTCACACTTAATGCAAAACAGATGCTCTTTGAGTTTTGTTTGGGTAGACTGTCGAGGTCTAAGCCTGTGGGGTTTATATCCCATAGTCTTTGTGTGTATGTATTTAATGTGTCTGTCTATAAACAATTTGACAATAAATTTAGGAACGAATGCCGAACACTATTGTTTTTGGAGTTCAGTGTGTGCACTTTCCTCATGAAATGTGTTTTCTTTAAAACGGCTATGGATATCTGAAACATTATTCTTGTTTTGCAGAAGCTGTCCTG[C/A]GATCGGCCCAGTTCAGATGGAGAGCCCTGCCATGAAAACGGCATCTCAGATGGCAAAGATCCAGGTGAGTCCTCATGTTGACTTTTTTTGTTTGGAACGCTGGAGGTCACTGAGTAAAAGGTGATAAAAGGAAAATGCATGTGTGTGTGTGTATGCTTTTTCAATGTAGTAAATCAAAATTTAGCACATATATGGTTGAAGTCAGAAATATTAGCCCCCTGTTTATTTTTTTCCCAATTTCTGTTTAATGGAGAGATTTTTTCAACACATTTCTAAACACAATAGTTTTAATAACTCATTTCTAATAACAGTAAATAATATTTGACTAGATATTTTTCAAGACACTTCTATACAGCTTAAAATGACATGTAAAGGTTAATCTAGGTTAATTATGCAGGTTAGGGTAATTAGGCAAGTTATTGTATAATGATTGTTTGTTTTAGGTATCGAAAAAAAAAATTTCTTAAAGGGGCTAATGATTTTGACCTTAAAATTGTTAT

Associated Phenotype:

Not determined