ZMP

ap4b1l

Ensembl ID:

ENSDARG00000013726

ZFIN ID:

ZDB-GENE-040426-1284

Description:

AP-4 complex subunit beta-1 [Source:RefSeq peptide;Acc:NP_956632]

Human Orthologue:

AP4B1

Human Description:

adaptor-related protein complex 4, beta 1 subunit [Source:HGNC Symbol;Acc:572]

Mouse Orthologue:

Ap4b1

Mouse Description:

adaptor-related protein complex AP-4, beta 1 Gene [Source:MGI Symbol;Acc:MGI:1337130]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa9375	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa29847	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa9375

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 > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000018230	Essential Splice Site	400	729	7	11
ENSDART00000116215	Essential Splice Site	400	729	6	10
ENSDART00000018230	Essential Splice Site	400	729	7	11
ENSDART00000116215	Essential Splice Site	400	729	6	10

Genomic Location (Zv9):

Chromosome 23 (position 376595)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	347586
GRCz11	23	360379

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GATATCCTGACCRGCCTGCTGGCACTRAAGCAGGATCACATCACATCCGG[T/A]ACGAGAACACACACACCTCTGCATGATTTCTCTTATTGTTCACCCAAACA

Long Flanking Sequence:

ACCTTTACTTCCTTAGCTGTAACAAGATATTATTATTATCACAGCGGAATGAACCGCCAACTATTCCAGCGTATGTTTTACACTGTGGATGGCCTTCCACCTGCAACCCAGTACTGGGAAACCATATAACCCATATACACCTATTCACACTCATACACTACAGCCAGTTTAGTTGATCAGTTCCCCTATAGTGCATGTGTTTGGACTGGGAAACCGGAGCACCCGGAGGAAACCCATGCCAACACGGGGAGAACATGCAAACTCCACACAGAAACACCAACTGACCCAGCCGAGACTCAAACCAGTGACCTTCATACTGTGAGGCCACAGTGCTAACCACTGAGCCACTGTGCTGCTGTTGTTATCAGTACAGCTGTGTGTTTTCTTATTGCACATGTTTCTTTCTGGTGTCCAGGGCGTATAGGGCGAACATACAGCGAGAAGTGTCTGGATATCCTGACCGGCCTGCTGGCACTGAAGCAGGATCACATCACATCCGG[T/A]ACGAGAACACACACACCTCTGCATGATTTCTCTTATTGTTCACCCAAACATCATCATTTACACTCCTTCTACTTGTATTAAACCTTTATGAGTTTCTTTCTTCTGTTCAGCACAAATGAAGATATTTTGAAGAATGTTGGAAACCGGTAACCATTGACCTCCATAGTATTTGTTTTGGAAAGTCAGGGGTTACCGGCTTTCAGCATTCTTCAAAATATCTTCATTTGGGTGAACAGGAAAGAAACTCAAAGGACTTGATCTTAGTGTTCCCGGGTAACCATTTACTTCTACAGGATTAGATTAAATAAATTTAGAGTAAATATGGTATTTAAAAGGGGGGGGGGGGGGGATAAATATTCCTTTATTACAGGTATGTCACAAAATAAGTGACAAAATGGTAGTGTATGATACTTGGTAACCATTGACTTCCATAGATTTGTTTTTCCTACTATGCAAGTGAATGGTTACCGGTTTTCAGCATTCTTCAAAATATCTTCTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa29847

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000018230	Nonsense	627	729	11	11
ENSDART00000116215	Nonsense	627	729	10	10

Genomic Location (Zv9):

Chromosome 23 (position 383552)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	354543
GRCz11	23	367336

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCCTGTGTGCGGGTGCTGCTGTGTCCCCCGAGGCGTTTGAGCAGATGTGG[C/T]AGCAGCTGGAGGTCCTGCAGCGTCAGACGGTGTGTTTCTCTGGATGCGCA

Long Flanking Sequence:

TCCATCTCATTAGCATAAACAGCAGGCCTGAGTGAGAAGCAGCCGTCTGTCCATTAGCCATTAGAGTGTTTGAATCGGCCACTATGCTGACACACAGGTGTCTGTAGCTCCGCCCTCTTCTGAAAAGAGCACAATCTCATTTGCATTTAAAGCGACAGTCACCAAAACACCACAATCAGGATCAAAGCCTGAAAGGGTCAGTTTTAGAGAGCTGGAAAACATCATCTGTGTGTATTCTCAGCTCAAACACACACACACACACACACACACACTCTAGAGACAGCAGAGTCGCATTTACATTCTCAACCCACCCTGCACATTCCCCTTTAATCTTTCATCTCTGGTTTTGAAAGTGCTGAATAAGAGCGTAACGCTGTACTCCACCATTGTGTCTCTGCCTGCCAGAACACGTCCCCGTCTCCATGCGGGACGTCTCAGAAGCAGGTGTCAGCCTGTGTGCGGGTGCTGCTGTGTCCCCCGAGGCGTTTGAGCAGATGTGG[C/T]AGCAGCTGGAGGTCCTGCAGCGTCAGACGGTGTGTTTCTCTGGATGCGCAGCGGACACACTTCAGAGCGCCCTGCAGCCGGTGCACATCCAGACTCTGGCCTTCAGCCCGGCCCGCGCGCTACCCTGGAGGGCCTACATCTATAGCAGGGGCTCCGGGACGCTCGTCCTAGCTGAACTGCTGCAGGATGACCCGGAGATGCTGACGGTGACTGTAAAACAGCAGCCCGAACACCAGCAGACCGTCACTGCATTCATCAGTGTGTTGCAGAGCGTCCTGCAGACTCTCAATACAGGACAAATGAGTGTTTAAATGATTTGCTGTGGTGCTACACTAATAAAAGAAGTCAACCTTTGGATCAACTTGTACTGTAGGGATCAGGGTGATAACAGGGGTCGGATCTAGATTCAGTTTAATTAAAGGTGCAGTAAGTTTGACACCCAGTGGTTGAAGTAGGTATTGCACGTCTGGTTCAACACACACACAAGTGCAGGTTGCCAG

Associated Phenotype:

Not determined