ZMP

si:ch73-124n6.2

Ensembl ID:

ENSDARG00000088588

ZFIN ID:

ZDB-GENE-100922-285

Human Orthologue:

C1orf172

Human Description:

chromosome 1 open reading frame 172 [Source:HGNC Symbol;Acc:26624]

Mouse Orthologue:

1810019J16Rik

Mouse Description:

RIKEN cDNA 1810019J16 gene Gene [Source:MGI Symbol;Acc:MGI:1916323]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10657	Nonsense	Available for shipment	Available now
sa25093	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa10657

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
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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000130559	Nonsense	180	334	1	3
ENSDART00000139792	Nonsense	180	334	2	4

Genomic Location (Zv9):

Chromosome 19 (position 30567554)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	14254180
GRCz11	19	14116375

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GAATACTGGAAGATGATTTAGTCAATGGTAATAAGATGGAAGATGTGGAT[C/T]AACTCATCACCCAGAAACTTATGGAGGTCTTCTCWGAGTTTGAGATCAAC

Long Flanking Sequence:

AGGAAGGGCCATACCAAGAGCGCTCTGTTGACCCTGTGGAGATTGAGATCCAAAGCTATGGAGTACGACACAAAGTTAACAAGGATGCCAATGGAAATACAACTGGGCCAGAGACTGTAAGCTTTCTCCCTGCTAAAGAGGAGCCCGCATCTGGGTCATGTATGTGTGGACCTTGTGCTTCTGTGGGTAGCTGCAGAAAACTTTTTTGTAGTGTATTGACTTGTGGACTGTACCGCATATGCCAGCGTTTGCCTTGCCTTGTTTCGAATGAAAGCACAGCGGTCACTGCGCAGACAGAGATCCAGCCAATCTCTTCACAGGTTCAGGAGGGCTTCTATCCTGACATCCGCATTGCGGGGGTCAAGGTTGACCCATCTGTGATTGAAGATGTCGATGGCTTTGATTCTGTTTCCCCTTCTACATTTGAAATGAATAGTTTAAATGTGAGTGGAATACTGGAAGATGATTTAGTCAATGGTAATAAGATGGAAGATGTGGAT[C/T]AACTCATCACCCAGAAACTTATGGAGGTCTTCTCTGAGTTTGAGATCAACGAGTTGGCCAAGTGCACCACAGACTCCATGTTCCTGCGGCGGTCCCGGGAAATCAGTCAGCTGATCTCGGATATCGTGGAGGAGCACAAAATGGAGGAGAAGGAAGCCGAGTGCAGGCTTGTTCGAGAGATTATTCGCATAAGTACTCGGAAAAGTAGGAAGAGGCCACAAATCAAGCAGCCGGAATTGCAGCGGGACAGTGGCAATGACACCTGGAACAGCAAAGGCATCAGCCAAAAGAGCAGCTTCAATTCCATGAGTGGTCAAAGTGAGTGCAAATAACATTTCCATTTAATTTCCTCTCAGTCTGGTTTTAAAGTTTGTGAAAGTTTGTTTAAAAAAAAAAGCATGATCATTTGCTGGCCATATTTGAAAATGTTAAAACATATCTAATGTAAAATATGGCTAGTTGCATCCCAAATGACACTATGCGTCTTGCATTGATTATTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa25093

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 > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000130559	Essential Splice Site	308	334	2	3
ENSDART00000139792	Essential Splice Site	308	334	3	4

Genomic Location (Zv9):

Chromosome 19 (position 30570944)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	14257570
GRCz11	19	14119765

KASP Assay ID:

554-7742.1 (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAGGTCTGATGACATAGAAGCCAGGAAATTTCGCAACAACAGTAACCAGT[G/T]TAAGTATCAACTATTGATTTACCAAAAAAAAAAAAAAATGCAAATGAATT

Long Flanking Sequence:

AGTCCATAGTGCATTTACTATAAAACACAACTTACCTCTCAGTACACTATTTGTTTCTATAGTAACTATATTCTTATGGTAGCTGCAGTCACTGCATTCATTTTGATTGGCATTTCACAGTTTCTCTCTATTTCTCTAATTTTTATCTTCTTTTATTATTAGAAAGTGCAACATTTTGCTGTATATTTATACACCCTCAACAATCCAAACCTGTGACAATCTTTTTTTTTTTAGTGAAACAAGAAAGGCTGGTTTTATGATATTAAAGTTGAATGATGTTAATTTCCAAGCTTCTAATCTGTGTCATGAGTTCTTGAGAAATAGTTTTTTTTCTATATTTGGATCCTGACTTAACCGGAAAATAACTCCTTGTCATTTGTTGAACATGGTGACATTCAAAAGTAAATAAACCTTTTCTATTTTTTTCTTAGACTTGCAGATTTCTATGGAGAGGTCTGATGACATAGAAGCCAGGAAATTTCGCAACAACAGTAACCAGT[G/T]TAAGTATCAACTATTGATTTACCAAAAAAAAAAAAAAATGCAAATGAATTTGGCTCTAGGAAAAATGTTTAGTATTTATTTTACATTTCAAGCATTATTATTATTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAACAAATCCTTTTATAAAATAATTTATTATAATTATAAAAGCATTTATTTTATAAGAAATGTAGACTCATTTACATATTGAATTAATGAAAATGGACATTAAAGACGATGCTGCTCTTCTGAAGTACAAAAAATAAAAATAAAAAAAGCATTGTTTCCACAAAAATGTTTAAAAAATAGCAAAACTACGACTTGAATGTTCAAAAGCTATGTTTCATGATCAAATCGATATAGGATCGATTTGTTATACAGATCATGTGATTGAAGAATAAAATATTGATTGCTTCAATGTTTTAAAACAACAA

Associated Phenotype:

Not determined