ZMP

LOC566553

Ensembl ID:

ENSDARG00000059556

Human Orthologue:

RECQL5

Human Description:

RecQ protein-like 5 [Source:HGNC Symbol;Acc:9950]

Mouse Orthologue:

Recql5

Mouse Description:

RecQ protein-like 5 Gene [Source:MGI Symbol;Acc:MGI:2156841]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa26171	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa2129	Nonsense	F2 line generated	Not yet available

Mutation Details

Allele Name:

sa26171

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000082886	Essential Splice Site	69	934	2	19

Genomic Location (Zv9):

Chromosome 3 (position 60432555)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	59735014
GRCz11	3	60026115

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGCCAGTGGAGTCACTCTGGTCATTTCTCCTCTGATCGCCCTCATTCAGG[T/C]ACCCCCCCCCCATCTCCCAAACACATGCTAATATACACTATATTGGCAAA

Long Flanking Sequence:

GTGTGTGTGTATGTGTGTGTGTTTTAGGTAACAGGGATGTGTGTGTGTGTGTTTTAGGTAAAAGTGATGTGTGTATATTCAGGTGACAGGGATGTGTTTGTGTGTATTTTAAGGTGACAGGGATGTGTGTGTGTGTGTTTGTGTGTATTTTCAGGTGACAGGGATGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTATTTTCAGGTGACAGGGATGTGTGTGTTTGTGTTTGTGTGTATTTTCAGGTGACAGGGATGTGTGTGTGTGTGTGTGTGTTTGTGTGTATTTTCAGGTGACAGGGATGTGTGTGTGTGTGTTTGTGTGTATTTTCAGGTGACAGGGATGTGTGTGTGTGTGTTTGTGTGTATTTTCAGGTGACAGGGATGTGTTTGTGTGTATGCCCACTGGAGCTGGCAAGTCTCTGTGTTATCAGCTGCCGGCTCTTATGGCCAGTGGAGTCACTCTGGTCATTTCTCCTCTGATCGCCCTCATTCAGG[T/C]ACCCCCCCCCCATCTCCCAAACACATGCTAATATACACTATATTGGCAAAATTTTTGTGACACCTGCCTTCACATAAACTTTAATGAGATTAATGAGGTCAGGTACTGATGTTAAGAAAGCCCCGCCTCTCAGATTCTGCTCTAGTTCATCACAGTGTTCAGTTGGGTTGAGATCAGGACTCTGTGCAGGCCAGATGATCAAGGTTCACCCTTACTGAAAAGTTTTCATGCACATATTAAGCAGATAAGCAGTATATTAATCTGTCAGCAGCTTTAGCAATGCTTATAGCTAGCTCTTGAACATCCTCAATGCTCTTTGTGCTCCAGGATCAAGTGGAGCACCTGAAAGCTCTGAATGTTCCAGCGCGCTCCATCAACTCCAAACTGCCCCTGGCCGAGCGCCGCCAGATTCTGGCCGATCTGGAGAGCGAAACTCCTCGGCTCAAGCTGCTCTACATCACCCCAGAGATGGTGGCGTCTCCATCCTTCCAGCCCGTCCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa2129

Status:

F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000082886	Nonsense	856	934	17	19
ENSDART00000082886	Nonsense	856	934	17	19

Genomic Location (Zv9):

Chromosome 3 (position 60400482)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	59702941
GRCz11	3	59994042

KASP Assay ID:

554-3428.1 (used for ordering genotyping assays)

KASP Sequence:

CTCTGAATGGAGACGGTGCTGGGATCTCRAGGAAGYCTGTSACGCTCAAA[G/T]AAGCTGCWGACATMGTGGTGCGCTGCCTCGACCCCTTCTACAAACAAGGA

Long Flanking Sequence:

GGCACGGTGGCTCAGTGGTTAGCGCTCTGGCCTCACAGCAAGAAGGTCGCAGAATTGAGCCCCAGCTGGAACAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCTCTCCGTGTTGGTGTGGGTTTCCCCCCACAGTCCAAACACATGCGCTAGAGGGGAATTGGATAAACTAAACTGATCGTAGAATGTGTGAATGAGAGTGTTTGGGTGTTTCCAGCTGCGTAAAACATGTGCTGTATAAGTTGGTGGTTCATTCCGCTGTGGCGACCCCTGATTAACAAAGGGACTAATCGAAAGGGAAATGAATGAATTCGTTTTTATTATTTCTTCAGGCACATGAGGACAGGTCTGAGGTCAGAGCTCCGTCTCCTCCAGTCAAACGCAGGCGTGTGCTGAAGGACACGAAGAGGGTGACCTTTGACCCGGTGGTGCAGGAGACGCAGGTGGAGGCTCTGAATGGAGACGGTGCTGGGATCTCGAGGAAGCCTGTGACGCTCAAA[G/T]AAGCTGCTGACATAGTGGTGCGCTGCCTCGACCCCTTCTACAAACAAGGAAAGTTCGCCACTAAGGTGATTCGTGTATAATAATAATAATAACGATAATGATTAGGGCGGCACGATTTGGAGAAAAAATCGAATTGCTATTTACTACCGTTTCATAAAAGAGCTGCAGGTTTGACGTGGTGGTTTTAACTGCACTAAAGAAAGCATAATCACAAAGTATCTACACTATGCTTCGTTTATTTAAACCTCCATTGTTGCCATTTTTCCAATAAAGTTGTCAGCTGTGATGAAAATAACTGCAGTATTTTAAGTTCAATTAAATTTATTATACAGGTGGGGCCGTTTAAATGGAGACACTTTAAAAAAATGGCAATGGTTGGTGATGTTAACGTCCTGTTTGTGGCACATTAGTATATGTGAGGGGGCAATCTTTTCAAGATGGGTGGCGGCCATTTTAAAGTCGGCCATTTTAGATTCAACTTTAGTTTTTTCTACAGGAAG

Associated Phenotype:

Not determined