ZMP

fance

Ensembl ID:

ENSDARG00000068870

ZFIN ID:

ZDB-GENE-060510-5

Description:

Fanconi anemia group E protein [Source:RefSeq peptide;Acc:NP_001035724]

Human Orthologue:

FANCE

Human Description:

Fanconi anemia, complementation group E [Source:HGNC Symbol;Acc:3586]

Mouse Orthologue:

Fance

Mouse Description:

Fanconi anemia, complementation group E Gene [Source:MGI Symbol;Acc:MGI:1920025]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa41199	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa9180	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa41199

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
ENSDART00000099751	Essential Splice Site	428	502	9	10

Genomic Location (Zv9):

Chromosome 8 (position 24588931)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	23714749
GRCz11	8	23735988

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTAAAGGATGATTTAGCTGTATGTTAATGATTTCTGTTGCTATCCTCACA[G/A]CTTGAGTTGAGTCAAGAGGATTTCTGTCTCTTCGCTGAGCATCTTTGCAG

Long Flanking Sequence:

GGCCTCTCGCTGTTTGGTGACGGCTGTAACGTCTCTCTGCTCTCGTTACCCCAGACCCACATGCCAGGCTCTGATAGAGCCACTGTTACAGAAAGGTCAACTTGGTATGATTACAGTTGTTTTATTTTCACCTGAGTATCAAATTGTGGTTTATTTTTCACATTTATTATTAATATTTTTTCATTCAACTTTGATTGTATTTTCTATAGGAAGCGCCCAGGCAGATTTGCTCTGTAGGCTGGTGATAGACTGCCTTGAGCCTCATCACAGGCTTCTTGTATTTCGGTATGTCTGAATTACCACAGTTCAGCTTTTAGAAAGAAATTCAGTATTACACTTAATCTGCATTCAAATCTTAGGACAGCACTCGGAGCGTCGTGGGATGAGGGTGTTTTATCAGTTATTCATGCGCTGCTGGATTCAAAGGTGATCCCGGAAATGTCTTGGATCTTAAAGGATGATTTAGCTGTATGTTAATGATTTCTGTTGCTATCCTCACA[G/A]CTTGAGTTGAGTCAAGAGGATTTCTGTCTCTTCGCTGAGCATCTTTGCAGCCAGTCTCCACATTTCAGCAAATCGATGAAGTTTGCCAAGATGCTGCTGAGCGTCCTGACCAAGTATCAGTCAAATGTGAGTATGACTGTAATAACTAGTCTTTTTTTTTTTAGAAAACATCCAAACAGAACATTTAACCTCTACACTATCTGACAAAAGTCGTCATCTATCTAAGTTTTAGGAACAACAAATAATACCTTGACTTCTAGTTGATCATTTGGTATCATAAGTGGCTTATATGAAAGGCAAAGGCCTCTAGATTGCGCTCATTTTACCAAAATAAAATATGATTATTCCATGGTTTTTAATTATTTAATTAGGACAGTAAGGTCTGACTTTGCTGGGTCAAAAGTTTTGTCAAACAGCAATAATGTTCAGTAGAGAATATAAAGTCATCATGCAGTGGAAAATGAATTAATATTGTGTATGACTCCTATGAGCTTGGACAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa9180

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099751	Nonsense	430	502	9	10

Genomic Location (Zv9):

Chromosome 8 (position 24588939)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	23714757
GRCz11	8	23735996

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGATTTAGCTGTATGTTAATGATTTCTGTTGCTATCCTCACAGCTTGAGT[T/A]GAGTCAAGAGGATTTCTGTCTCTTCGCTGAGCATCTTTGCAGCCAGTCTC

Long Flanking Sequence:

GCTGTTTGGTGACGGCTGTAACGTCTCTCTGCTCTCGTTACCCCAGACCCACATGCCAGGCTCTGATAGAGCCACTGTTACAGAAAGGTCAACTTGGTATGATTACAGTTGTTTTATTTTCACCTGAGTATCAAATTGTGGTTTATTTTTCACATTTATTATTAATATTTTTTCATTCAACTTTGATTGTATTTTCTATAGGAAGCGCCCAGGCAGATTTGCTCTGTAGGCTGGTGATAGACTGCCTTGAGCCTCATCACAGGCTTCTTGTATTTCGGTATGTCTGAATTACCACAGTTCAGCTTTTAGAAAGAAATTCAGTATTACACTTAATCTGCATTCAAATCTTAGGACAGCACTCGGAGCGTCGTGGGATGAGGGTGTTTTATCAGTTATTCATGCGCTGCTGGATTCAAAGGTGATCCCGGAAATGTCTTGGATCTTAAAGGATGATTTAGCTGTATGTTAATGATTTCTGTTGCTATCCTCACAGCTTGAGT[T/A]GAGTCAAGAGGATTTCTGTCTCTTCGCTGAGCATCTTTGCAGCCAGTCTCCACATTTCAGCAAATCGATGAAGTTTGCCAAGATGCTGCTGAGCGTCCTGACCAAGTATCAGTCAAATGTGAGTATGACTGTAATAACTAGTCTTTTTTTTTTTAGAAAACATCCAAACAGAACATTTAACCTCTACACTATCTGACAAAAGTCGTCATCTATCTAAGTTTTAGGAACAACAAATAATACCTTGACTTCTAGTTGATCATTTGGTATCATAAGTGGCTTATATGAAAGGCAAAGGCCTCTAGATTGCGCTCATTTTACCAAAATAAAATATGATTATTCCATGGTTTTTAATTATTTAATTAGGACAGTAAGGTCTGACTTTGCTGGGTCAAAAGTTTTGTCAAACAGCAATAATGTTCAGTAGAGAATATAAAGTCATCATGCAGTGGAAAATGAATTAATATTGTGTATGACTCCTATGAGCTTGGACAACTGCATCC

Associated Phenotype:

Not determined