ZMP

ENSDARG00000091803

Ensembl ID:

Human Orthologue:

AC092718.1

Mouse Orthologues:

Pkd1l2, Pkd1l3

Mouse Descriptions:

polycystic kidney disease 1 like 2 Gene [Source:MGI Symbol;Acc:MGI:2664668]
polycystic kidney disease 1 like 3 Gene [Source:MGI Symbol;Acc:MGI:2664670]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa41041	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa18895	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa41041

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
ENSDART00000124378	Essential Splice Site	449	1083	9	21

Genomic Location (Zv9):

Chromosome 7 (position 57774228)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	56209554
GRCz11	7	56510965

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGGGACAAACATCAGCTCTTGGAATCAAAGCACTACTGTGACCTATAAAG[G/A]TAACTTTGAAAAATAAATTCAGTGGTTTACTTAAATGGGTTGTGTATAGG

Long Flanking Sequence:

CAGTTTTTGACTTGCTCAATGAACATTGTAGGGCGTTTTAATTCGTATAGTCCTAAAGCTATATTTAGTGTGAAGTACATAAAAAAAAATAAACACAAATTAATGAAATAATCAATACACTGTAAATACACTGTCAATACCCCCAAAAAAAATTAATAAATAATTAATTGTGTTGATTTAACTTGTTTTAAATAAGTTTGAACAAAAGTAGCAAAAGTACTTGAGTGTACACAGAGAATTGAACTAGATGTTACAAAGAGTTACTGATGCTTCTGTGCAGATATATTTACCTCAACCTGAAGCAGCTCAGCCTGAAGTTGTGGACGTAACCTGGAAAAATGGGTTTGCGGTCACCTCGACTTTCAACATCACAGATGCAAATGTGACTGTCGTTGTAACAGCAGTCCCGAATCGAAACATAAGCCTCAGTTTTACATTGCACCCACCCAATGGGACAAACATCAGCTCTTGGAATCAAAGCACTACTGTGACCTATAAAG[G/A]TAACTTTGAAAAATAAATTCAGTGGTTTACTTAAATGGGTTGTGTATAGGACTGTTATGAAACCTTTATAATCATGACATGCCATGAATATCAAGGACATTTTATACATGCATATAATTGCTGTTATTAAGTGCCATTTACTTAGTTATGACGTTTTATATGCAAATGTGACATTGCTTGTGATGTTTCTGTTATGACAGCTTGACATAACCAAATGCATCATAACCTGTCTCTGTTGTAACAAATTGGCATTAGTAGACAATATAACTTGTCATAAATCTGTCATAAACATGATTGTCACAATGCCATTATAATTGTGTCGTGATTTTTATTGAAGCATCATTAGTACTTACTTGACCTCAACCACAGTGGAACAAATTGAATTTGTCATTAAAATCTTATTAAAGGTAATTAAACATTAATGCTGTCGTTATGAAATTATTTAAAATAGTTTTTAATGGCAAATTCATTGTACTACTGAATAAAGCAGTCATTAAAAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18895

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000124378	Nonsense	986	1083	19	21

Genomic Location (Zv9):

Chromosome 7 (position 57756086)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	56191412
GRCz11	7	56492823

KASP Assay ID:

554-6158.1 (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCAGTAGTTCAAGTACAGAAGAAGAAGCAGGGCTGGTGGTTGCCCTGGTG[G/A]TTTCTGTTCATCGGCTGGTTTCTGCTTTTTGTCATGAGTGGTATTTCCAC

Long Flanking Sequence:

TTGCCAAGACATAATTAATTTTAATCTCTGGAAAAAAAAGGCATATTCTTCTGGACGCTCATGTGCATGTGTTTTGATGTATATTTTTTCCCCCGCTGTGCTCCTCATAGCAGTGTTGTGTTTCTCTTCAGCGGAGAGCATTGGTGACCCTCACTGGTTTTACTGCAGTCATTTTGTGCTTTACTCACTGAGCCACATTAATAACCTGCTGGAGCATGTGGGGGAAAAAGGCTGCTTCCTTAATGAGGAGCTTCGGCAGGCTCGCGGGATAGTCAATGCCCTGCTCAAGAAGGCTGAAATTGTGTCTCAAAAGCACACTTCCCAAAGGTCAGCACCTTCCCTACTGCAGCTACTCTTATTGTAAATGAATGAGAAATACATGAGATAAACTGGTTTGTTGCAATAATAAGCAGATGATTTTATTTATTTATTTATTTTTGTTTCAGCCAACCAGTAGTTCAAGTACAGAAGAAGAAGCAGGGCTGGTGGTTGCCCTGGTG[G/A]TTTCTGTTCATCGGCTGGTTTCTGCTTTTTGTCATGAGTGGTATTTCCACCTTCTTCACACTGCTTTATGGCTTCCAGTATGGAAGAGAATCCTCTATCCAGTGGGTGGTCACTCTTTCATTATCACTGGTCCAAAGCATCTTCATCATGCAACCTCTTAAGGTATGAACTATGAAACATGTTCTTTTTCTTAGGCTAACTTTTTAGGTTAAGGAATAAAACCAAAAAAAAAAGCAGACTAATAAGAACAAGCTACCCCTAAAATAATGAATATCCTGGAACACAAATGGAATTTGTATTATTTGTTCATGCAATAATAACATACCTTTTAGTTACTTGTTATGTCCTTGTGATAATGGACGGATGGATGGATAGATGGATAGATAGATAAATAGATAGACAGACAGACAGACAGACAGACAGGCAGGCAGGCAGGCAGATCATTTCATGTCTTTAGTTGAAATTTGGAATATTGTTCAATGCACTTATAGAAAGTTATG

Associated Phenotype:

Not determined