ZMP

fxr1

Ensembl ID:

ENSDARG00000022968

ZFIN IDs:

ZDB-GENE-030131-5431, ZDB-GENE-030131-5431

Description:

fragile X mental retardation syndrome-related protein 1 [Source:RefSeq peptide;Acc:NP_958458]

Human Orthologue:

FXR1

Human Description:

fragile X mental retardation, autosomal homolog 1 [Source:HGNC Symbol;Acc:4023]

Mouse Orthologue:

Fxr1

Mouse Description:

fragile X mental retardation gene 1, autosomal homolog Gene [Source:MGI Symbol;Acc:MGI:104860]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa24220	Nonsense	Available for shipment	Available now
sa24219	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa24220

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
ENSDART00000104478	Nonsense	31	622	2	16
ENSDART00000104480	Nonsense	31	648	2	17

Genomic Location (Zv9):

Chromosome 22 (position 40547480)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	22	37626856
GRCz11	22	37561774

KASP Assay ID:

2261-7102.1 (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTATTCCAGGGCTTTGTCAGAGACGTTCACGATGACTCGCTCTCCATTT[C/A]GTTCGAGAATAAGTGAGTAGAAGCAAACAGTTGAATTGTAATACAGTTTA

Long Flanking Sequence:

CATTTATAAACTGGTTAGATTTGTTTTCTTTGCATAAATGGATTTCTTTGGTTGTTACCAACATCCAGTTATGATTTCAAGTCAACAGCACCTTTAGAAATATGTTTTCTGAGGAAAAATGGTGATGTGTTCAATACTTATTTTCCCTGCTGTATGATCGGAGGCAAAATTCACAAGCATGTGCAATAGGATATATTCCAAATGTACCACAAAATCAAATCATAAACAATAGTAGCAAATATGATAACTAAGTATTTACCAAATAAACAGATACAAGAGTTTTAAGGGGCAAAATAATATAAAGAAATTTTCGTGATCCTTAACAATCAAGAAGTAAACAAATCAATAGATTGACGGAGGTAAGGAAAAGAGGGAAATATATCATCTATTAGTACTATTATTTACTTATTAGTTAGAATAAAGAATAAGCTAATAATCTGTGTAATTGTCTTTATTCCAGGGCTTTGTCAGAGACGTTCACGATGACTCGCTCTCCATTT[C/A]GTTCGAGAATAAGTGAGTAGAAGCAAACAGTTGAATTGTAATACAGTTTAAATGAGCAGATGAACATCATGATGTGGAAATGATTTTCTCAGCTGGCAGCCAGAGAGACAAGTGCCCTTCAGCGATGTTCGGTTACCGCCATCCGCAGACACCAAGAAGGAGATCGGGGAAGGAGAAGAGGTGGAGGTGAGCAAAAATACCTGTATCAGCAGCAGCAGCACTATGTGTTATTTCACTCTTAGACGCACTGCAAAGCTACTTAAAGGGATAGTTCATTTTAAAGGGATAGTTTAAAATAATATAATTTAATCACACTTGACTTGTTTTAAACCTGTTTGAGAATATATCTGTTGAACACAAAAGAAGATACTTTGAAGAATGTTGCAAACCAGTAACCATTGGTTTCTATAGTATTTGTTTTATCACTGTGGAAGTCAATGGTTACCGGTTTCCAGCATTCTTCAAAATATCTTTGCTGTTGCTTTAATATTTTAAAATCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa24219

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000104478	Essential Splice Site	557	622	14	16
ENSDART00000104480	Essential Splice Site	557	648	14	17

Genomic Location (Zv9):

Chromosome 22 (position 40536561)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	22	37615937
GRCz11	22	37550855

KASP Assay ID:

2261-7099.1 (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATGGCATGAGCGAGTCTGACAACGCCTCACTCAGCGAGAACGGCCTCGG[T/C]AAAAACAACTACAACACATTGATTTGATTTAGTCATTCTTTTGCAAGGAA

Long Flanking Sequence:

AAGAGGAAGTAGAGGAAGAGGAGCCTCCAACTCCATCAGCTCAGGTTTTACAGCCTTATCAAAAACTGTCTGCATGAAACAGGGGGCCGGTGTTCTGCATAGCTAGCTCTATATTTCTTCAACACCTGCCTGGAAGTTTCTAGTATAGACTGAACTTGATTACCGTTCAGGTGTGTCTAATTGGGGTTGGCTAAGCATAATTTTTAGATATTTGGACTAGAAACAAGACAAAACTTATCAAGTAAGAACAGCATTTTTGTTTGTAATGTGGTTATTAAGTGTGCTTGTTCTGTGTCAGTGCTGAAGGATCCGGACGGGAACCCGTATAGTCTGCTGGACAACACTGAGACAGACCAGACGGCCGATACTGATGGCAGTGAGTCTCAGATGAACACGAGCCGCCGCAGACGCTCTCGCCGTCGCCGCACCGATGAGGACACCACAGTCATGGATGGCATGAGCGAGTCTGACAACGCCTCACTCAGCGAGAACGGCCTCGG[T/C]AAAAACAACTACAACACATTGATTTGATTTAGTCATTCTTTTGCAAGGAAACGTAACTGTTTTGTCAGTTTAGTAGCTAATTCGTAAAATTCTGCACGGAAATATGTACAATATTATTTTAGTCATTCTTTTGCTCTGTAGTCTCTTGAGGAAACATAACCAACTATTTTACATTTTGTTAGTTTAGTGGCTAATTCATGCAAATTCATATAAGTTTAGAGAGATTAAGTCATTCTGTAGCTCCGGTTTCTGCAGCAGGATCTCATGGGGAAACGTATCTATTTTATGTTTTGTCAGTTTAGTGCCTAATTTGTACAAATTCTTACAAAAATATTATGATTTTATTCATTCTTTTGCTTTTTACACTCCAGCCTGATCTTGCGAGAAAACAACTGTTTTATGTTTTGTCAGTTTAGTGGCTAAATCATATGAATTTATAAAAGTTATGTTGTGCGAAAATTTACTATTCATTTAGTCTTTCTTTTGCTTTAGTCATATTC

Associated Phenotype:

Not determined