si:ch211-233a24.2

Ensembl ID:

ENSDARG00000062330

ZFIN ID:

ZDB-GENE-090313-98

Description:

fragile site-associated protein [Source:RefSeq peptide;Acc:NP_001139056]

Human Orthologue:

KIAA1109

Human Description:

KIAA1109 [Source:HGNC Symbol;Acc:26953]

Mouse Orthologue:

4932438A13Rik

Mouse Description:

RIKEN cDNA 4932438A13 gene Gene [Source:MGI Symbol;Acc:MGI:2444631]

Allele Name	Consequence	Status	Availability
sa15043	Essential Splice Site	Available for shipment	Available now
sa13514	Essential Splice Site	Available for shipment	Available now
sa17693	Nonsense	Available for shipment	Available now
sa13875	Essential Splice Site	Available for shipment	Available now
sa13491	Nonsense	Available for shipment	Available now

Allele Name:

sa15043

Status:

Available for shipment
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Availability:

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Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090000	Essential Splice Site	454	4871	13	83
ENSDART00000134725	Essential Splice Site	454	4922	13	84

The following transcripts of ENSDARG00000062330 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 13 (position 12700640)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	12699008
GRCz11	13	12831483

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AATCAAASCGTTCTGCATAATAACAGCTGTTGTATGTTTACTTTTTTCCA[G/A]TTTCATGTGATAGCCAGTTATCCTCGCGTGTGGAACATGCCTCAGTCCTG

Long Flanking Sequence:

TTAGCAGCGATTTGCACAGACTGGATCGCTGGTGATTGTGACGCTAAGAACAGAACACAGCCTAATATTGCAACAAGAGGGTCAGGAGGAAATTAGTCTTAAGTACTGTTTAGCAAGAAGAAAACACCTCAATCCAAAATTTACACATATTTTGAGCAAAACCAAAATAAATGTACATGAACAAACAAACGCAACAAAGTTCACATGTTAAACTAACATTAGATACATTTAAATAAACATTATGCATCTTCAGGGTGGCGCTGAATACATTTATAATTTTTTATTTTGCGCCATTTTGCTTTTGAAACAAGTGATGAATAAATATTTAGAATTTTTTTTTGTGATGATTGTAAAACTGTCCTAAATTTCTTAAATGTTCAGCTAACTTCTTATTTGCTAAAAAGTTGTATTATATTTTTTCTTCAAATACTACGTAAAGGATAACGCAACAATCAAACCGTTCTGCATAATAACAGCTGTTGTATGTTTACTTTTTTCCA[G/A]TTTCATGTGATAGCCAGTTATCCTCGCGTGTGGAACATGCCTCAGTCCTGGCAGTGTGAAATTGAGGTTTACAAAGCCACGTATCACTTTATCTATGCACAGAAAAACTTCTTCACAGGTGATGTTTCTCTCTTATCTGTAAGTCCCTATGCGGTGAAGTATGTCCTCAAGCTGACCTCCTCCTGTTGTCATCTGTAGATCTGATCCAAGACTGGGCCAGTGACAGTGAACCGGACATCTACTCATTCGTTCCATATTCATGGAAGTTTAAAATTCTTTTCCACCAGTTTGAGATGATTTGGGCCGCCAATCAGCACAACTGGATCGACTGCTCCACCAAACAGCAGGAGAACGGTAGGAGAGTTTCATAACAGATGCACTTATATATATATATTAATTATATTATATATATATATATATATATATATATATATATATATATATATATATATTATATATATTAGGGCAGGGCGATTTAGCAAAAAAAAAAATCTAGGTTT

Associated Phenotype:

Not determined

Allele Name:

sa13514

Status:

Available for shipment
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Availability:

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Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090000	Essential Splice Site	1171	4871	25	83
ENSDART00000134725	Essential Splice Site	1171	4922	25	84

The following transcripts of ENSDARG00000062330 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 13 (position 12730262)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	12728630
GRCz11	13	12861105

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACATCCCGGAGAATGGATCGTCACCAAGGAAACTCCTAAAATCCCAGATG[G/A]TATGTTTGCTTTTAATGGACTAAATCATGATGCCTATTGCTTRTTGTGTG

Long Flanking Sequence:

ACATCCACTTAGTGTATTTACATGTCATAGTATATATGGAATAAAAAAATTATCATGGTTGATGATTTATTTAATGGTAATCTTATATACTTTCTTACCACCCAGTCCTTCCATAACAAGGACTGGGTGGTAAGTCCTTCTGTTTCTTGATCTTTTTTTTTTAATCATAAAGATCATGGTTTGAGCTTTATAACTATTCTCTAATGTTATAGTGCCAACACACCTATTTGCTAAATGTATTTATGTGTGTTTTAGACTTTGGTTCCTTTGGCCTGAGGAGAAATACAAGCGAAGTCGGAACCGCTGTGGCTGTCTTGGTGGCTGTCGTTTTTTTGGGGGCACCATCGGTGGCCTGGACTTCTTCCGATTGGAGGAAATCACACCCTCGTCAAGCTCAGCCTTCTCCGGTATCAGCGCAGAGTGTGATATGTCCTATGGCCAGTCATTATTACATCCCGGAGAATGGATCGTCACCAAGGAAACTCCTAAAATCCCAGATG[G/A]TATGTTTGCTTTTAATGGACTAAATCATGATGCCTATTGCTTGTTGTGTGCATTGTAGTAACTGATAGTTATATATGCAGCTAAAGGGATTGCTGTGCGAAGAGACACGTGTTCTCCTGCACCAGTGGTGGACTTGGAGAGACGTGTCCAGCAGCACCTCAGTCTCCACGTCCCTCAGCGCTCTCACAGCTCTGCCTCTTCCTCCGAGGAAAACTCTTCCTCCAGCGCCGCGCTGCCTCTGCTGGCTGGAGAACGAGAGAGTCCTTCACCCTCTACTGAGTGAGTCAGACAGATGTGCTTTGCTCCTTCTATCTACATAGGTATTTAGAAGCAGTGTAACGGTATACTGGAATCATGGTTTGGTACAACATGAATAATAGCAAATGCCCAGTGTACATTTTTCTGTTAATTTTGAACTGGCAGAATTGTTTTGTCACAATCATTTACAGAACTGAAGAGCCTCTTGTGATGCAAAAGTACAAAATAAACAATAATAATGA

Associated Phenotype:

Not determined

Allele Name:

sa17693

Status:

Available for shipment
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Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090000	Nonsense	3227	4871	55	83
ENSDART00000134725	Nonsense	3248	4922	56	84

The following transcripts of ENSDARG00000062330 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 13 (position 12787256)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	12785624
GRCz11	13	12918099

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CTGTGCTCTTCTGGCWGAACTATAAGGCTGCTTATGATAACTGGAAGGAA[C/T]AACGCTTGGCTCTCAACTCCGACATTCATATGGCCACCAAAGARGTTGTA

Long Flanking Sequence:

TAGTTTTAGTAACTCATTTCTAGTAACTGATTTATTTGATCTTTGCCATAATGACATGTACATACTATTTTACTAGATATTGTTTAAGACACTTCTATACGGCTTAAAGTGACATTTAAAGGCGTCACTAGGTTAATTAGGTTAGCTAGGCAGGTTAGAGTAATTAGCCAAGTTATTGTATAACAATGGTTTGTTCTGTAGACTATCGAAAAAATATAGCTTAAAGCGGCTAATAATTTTGAACTTAAAATAGTGTTTAAAAAAATAAAAACTGCTTTTATTCTAGCCAAAATAAAACAAATAAGACTTTCTCCAGAAGAAAAAATATGATCAGACATACTGTAAAAAATTTCCTTGCTCTGTTAAACATCATTTGGGAAATATTTAAAAGAGGAAAACTAATTTTGGGGGGCTAATAATTCTAACTTCAACTGTATGTGTGTGCTGTAGCTGTGCTCTTCTGGCTGAACTATAAGGCTGCTTATGATAACTGGAAGGAA[C/T]AACGCTTGGCTCTCAACTCCGACATTCATATGGCCACCAAAGAGGTTGTAGACAAACTGCCAGCCATTCAGCAGACCAGCGTCCAGGCCTTTAGTACACTCTTCCTACAGCTCACAGTCAATGACCTGGGCATCTGTCTGCCCATTACCAGCGCCACACAGGTGGATACTTGCACAAATGCATAATCTACACTTTTTTATGGCATCATTATGATTTTTTTGAATGTGTCCGCTCATAAAGGCTGCATTTATTTGCCCAAAATACAGTAAAATACTGTAGAATTGTACTAATTGTAATAATTACAATAAAAAAAAATCAGTTCTCATTTTGAACGTAATTTGTTTAATTTATTCCTGTGATTTTAATTTATTCCTGTGAATTTCCAGCACATTTCCCCAGTGTTGCATGATTCTTCAGAATTCGTTATAACATAATCATCTGCTGTTAAAAAAAGCTATTTTTATAGGTGTTGAAAAATTGGTCTGCTATATGTAAAGTGT

Associated Phenotype:

Not determined

Allele Name:

sa13875

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090000	Essential Splice Site	4289	4871	74	83
ENSDART00000134725	Essential Splice Site	4340	4922	75	84

The following transcripts of ENSDARG00000062330 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 13 (position 12832029)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	12830397
GRCz11	13	12962872

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AAACAGCTTAATGTSCAGATGAACATGAGCAACGTCATGGGCAATAATAC[G/A]TATGASCGAGCGAGCAGCTAATATGCTTTGATACCTGCAWCTGGTTAACA

Long Flanking Sequence:

TGTGTGTATTAAGCAATGTGTAAGCAAGGCGGACAACTAGATATTTTCGTATTATCGAGTCAAGTGATTAGACTAATTATTGAGTAATTAAATAACTTTTCAGACACAGTAATTTAAGTAATTGTTTTTGTTCACTAAAGTCTCTGCTGCATGCCAGAAATCTGAATCGCTGTCTGACCATGTTTGACCAGATTAGGCATGAACATTAACATTATGATCAAGATTATGATATGATTTTAGCTAACCGTTGGTGTATATTAATACCATTTGTTGTTCACTGGCATCTGTTAGAGCTTTCGTAACATCAAATGAGCAAGCGTATTAAATCAGTTGCATATGCCTCCTGCAGACTCTGTTACCAAGACCTCTACCCCGTCGTTCCGGAACGGAAAAGCAGCAGCGCAGCAGGGTTCACCGTGGGAGACGCTGGTGGTGTTCGCCATCAACCTGAAACAGCTTAATGTCCAGATGAACATGAGCAACGTCATGGGCAATAATAC[G/A]TATGAGCGAGCGAGCAGCTAATATGCTTTGATACCTGCATCTGGTTAACATGGCTCAGTATGATGACTAACTGTTGCACATGCGTGTGTTTCAACAGTTGGACAACGAGTGGGCTGAAGAGTCAGGGCCGTCTGTCAGTGGGCAGCAACAGAGACCGTGAGATCAGCATGTCTATTGGACTGGGACGCTCCAAACTGGACTCCAAAGGAGGAGTGGTGGGTGGAAACATTGATGTCAACACGCTGGAGATGGTCTGTAAGTATGATTTCATAGATGCACATTTTGTGGCCCAGCATCATTATTATATCTTCTATTATACATCTAATTTTCTAATTGTTATGTGGTTTAACTAATTAAAAACATTTTATCTTTGGCATTCACTACCATAAAATGCCCATCACATTGTTTGATTGCTTATAAAAGTCAATATTTTGGCAGGTAGAATGAAAATTAAAATGGGTTTACATCGATTTAATCGTTCCTACATTGTGGAAAAAAAA

Associated Phenotype:

Not determined

Allele Name:

sa13491

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090000	Nonsense	4762	4871	82	83
ENSDART00000134725	Nonsense	4813	4922	83	84

The following transcripts of ENSDARG00000062330 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 13 (position 12849590)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	12847958
GRCz11	13	12980433

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCATGTTTGCATCTCGGCCTGGCCAGAAGAGCCCAACAAYGCAGCAGGAT[G/T]AGCCATCATCTGACAAGAAGGAGGAGAGAGAGAAAGAAGAAGGAGTGAAC

Long Flanking Sequence:

ATGTCCGTACAGTGCCAGAGAATAACGACATTTAAAAATGGAAGAAAAGCTTAGTAATAGATGTGATTGGCTGTCGTCACTATGACGATTACGTCAGTGTAAGCTTCAGAAACACCCTCCGTCATGTGTTGACGCCGATGGCCTATAAGAACAGGGCATTTGTATTTGTTTTTAACACTATGAAAGTCAACGGTTACAGGGTTTTTTTTAGGTTTCTTCAGAATACCTTCTTTTGTGTTCAACAGAGCTCATAAAGGTTTAGAAGCACTTGAGGTTGAGTAGTAAATTTCCATTTTTTTGGGTGAACTATTCCTTTAAAATAAACTCATTCATCATAAATTATTTTTGTGACCCTTAGAAAATATCACAATAGTTTGTGTTTAATTGTGTAATAGAAACAGTCCTACTTTAGTGAAGTGTGTGTTTTTGTCGCAGCACTCTTTGCACCGCGCATGTTTGCATCTCGGCCTGGCCAGAAGAGCCCAACAACGCAGCAGGAT[G/T]AGCCATCATCTGACAAGAAGGAGGAGAGAGAGAAAGAAGAAGGAGTGAACTACACCACAGTGGACTGGAGAGAGTTCCTCTGCAACACGTGGCATCTGGAGCCCACACTACGGTAACACTGCAGTCACATGACCTCAACATTTAGCACATGTTTAACACACCATTTGATACTTTAAGAATTTTGTAAAATGTTGGAAAAAACATAATAATAATAGTAATAGTATGCTACGTATGTCAATGGATGCATTCTGATTTGTCGTCTTTGATGTATTAAGATTGATGAGGTAGACACCTCTGTCATGGCTGCTCAATACTTGAACTATTTTAGGCGTGATGAATTACATATTTAAAAATAATCTTATTATCTGCGTTATTTCAGTTTTTATTTAGATACAGTCCAAGTTATCATTCCTCAGTATATGCGTCTGAATAGTGCACGAAAGTCCTAATATTGTGTGTGCGCACATTCTGCTGTGATTGCTTAGTGGAGCAACGTTGAT

Associated Phenotype:

Not determined

ZMP

Alleles

Mutation Details

Mutation Details

Mutation Details

Mutation Details

Mutation Details