ZMP

nedd4l

Ensembl ID:

ENSDARG00000060006

ZFIN ID:

ZDB-GENE-051118-2

Description:

Novel protein similar to vertebrate neural cell expressed, developmentally down-regulated 4 (NEDD4)

Human Orthologue:

NEDD4L

Human Description:

neural precursor cell expressed, developmentally down-regulated 4-like [Source:HGNC Symbol;Acc:7728]

Mouse Orthologue:

Nedd4l

Mouse Description:

neural precursor cell expressed, developmentally down-regulated gene 4-like Gene [Source:MGI Symbol;

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa43589	Nonsense	Mutation detected in F1 DNA	Not yet available
sa37245	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa14628	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa43589

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000084061	Nonsense	6	1011	1	33
ENSDART00000146576	Nonsense	6	988	1	31

Genomic Location (Zv9):

Chromosome 21 (position 9589909)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	10961962
GRCz11	21	11054590

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTGTGTATGTGTGTGTTAAATTGCCTTTTGGCTTTATGGCTACGAATTTT[G/T]AACCCATTTATGGACTTTCAGAGGATGAAGTAAGTACTGTTTTTTCAAAC

Long Flanking Sequence:

TAGTTCAATGCCAATCTCATATCAGTCCTATATTGAGATGTAGGAAACTACCCATCCCTGATTACTCCACAAAAGTGTAACAACATAGCCCCGCCTACCGTCGACGCTAATTGGTTATTCCATCCTTCTTGAGTTTCGGAAAAGCTTGTGATTGGCGTAATATGTTGTCAATCATTTCAGCTGGGAGTGTTTCGGATCCTGAGAGGAAGTGAATGATTCGCGTTTGCACTTGACGAGGGGAAATCATATTGTTGGGGGAAATTAAGCGTGTATCCACCTAAATTCCGCCGTTAAATGAGATTAAACTGGCGGACGTACATCTTTAGGCACGATATGGTTTAAAAGGATAACCGTTTTTGGAGTCAGACTTCGTTGCTTTGGATTAACTTGGAGGTGGAGGAGGACACACTTTGCTATTGTTCCAGCTTTCACACTAGTGTGTGTGTGTTTTTGTGTATGTGTGTGTTAAATTGCCTTTTGGCTTTATGGCTACGAATTTT[G/T]AACCCATTTATGGACTTTCAGAGGATGAAGTAAGTACTGTTTTTTCAAACCACACCACCTTTAAGACACAGACATGTCTTCCACCATATTAATACTGTATGTTTATCATTTTTTCATAACCCATGTTGTGTGTTCCAGTATGACAGATGAGAGGGATACATTTTATAAAGCCTAATGTAATTTCATTGTTATAAATATTACAAATAAGAGGTTAGTAATTGTATCAAGCTCATCAGTTTTGTTATTCCCACATTTCCCTAAATTCCAGTGTTAGGTAATCAAGAACTGTCAGTTTCATTAAGCATAATATAATAATTGAATTATTCAAGTATACATATCAAAGTTAGCAAGTTTTCGAAGTCAACACAGACTTTTGCTTCACACATTTACATAACATTCAATGTAAAATCAAGTGTTCTATCCAGTTAAACTGTTATCAAATCCCTTTTAATACAAGTTACAGTCTGGTAATGTGCTGATTTTTATGATGGCACACTAAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa37245

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
ENSDART00000084061	Essential Splice Site	187	1011	9	33
ENSDART00000146576	Essential Splice Site	170	988	8	31

Genomic Location (Zv9):

Chromosome 21 (position 9490018)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	10862071
GRCz11	21	10954699

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAATGGAGGACATGAGGAGGAAAGCGGTGAAATGAGAGAGGAGGCTGAGG[T/C]GAAGTATATCCATCCACACACTCATTTTTTTTATTAATACCGTAGTTCAT

Long Flanking Sequence:

AGACTATACAGCTTTATCGTACATTTGAGTATTTTATTTCTGTTACTTTATACTGTTATGGGCTGCACAGTGGGTAGCACGTTCACCTCACAGCTAGAATTTTGCTGGTTCAAGCCTTGGCTGGGTCAGTTGGGATTTCTGTGTGGAGTTTGCATGTTCTCCCTGTCTTCATGTGGGTTTCCTCTGGGTGCTCCGTTTTCCCCCACAAATCCAAAGTCATGTGGTATAGGTGAATTTGGCATCCGCTGCATTAAACATATGCTGGATAAGTTGGCAGTTCATTCCGCTGTAGCGACCCCAGATTAATAAAGGGACTAAGCTGAAAATTTATAAATGAATGAATGAACACAACAATGGCTGTGTTGTTAAAACACATTTTTATGCTTTGTCCTTTAGTCATAAATCTCGGGTGAAAGGTTACCTGAGGCTCAAGATGGCCTACCTGCCAAAGAATGGAGGACATGAGGAGGAAAGCGGTGAAATGAGAGAGGAGGCTGAGG[T/C]GAAGTATATCCATCCACACACTCATTTTTTTTATTAATACCGTAGTTCATATTGTAAAATGTCTAATTTTGTAAATCAGATCTTAATATTGCTCTAAGAATGTTTTTAGAAGTAATATGTGTACATTCATTCAGGTTTACACACTAAATCATCAGCAAACTTAGAATAAATACTACACAACACTATAGTAATACACTACAAATAATCATTGGTTTGCCAAAAGCGTAATATTTAAAAATGTGTCCTTTCTTTCTACACTTTTTAAAAGCTTACTTTTAATTAAACTTTTTAATGTTGATTTTAAAAAATGATGTGTATAACAGAATAATACTTTTTTTTTTATAACAGAGATGCTTTAATTGTATGTTCGAATATTCATACTACAACATTTTCTGGGGTCATGAAATTTTGCTCCATAAATTTAGTCCAATAAATTATTAGATAAATAAAATTAATTTGAGACATGCTTAAACATCTTTTTTCTCTTGCCTTCAGTGATT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa14628

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
Order Allele From EZRC

Mutation:

G > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000084061	Essential Splice Site	625	1011	20	33
ENSDART00000146576	Essential Splice Site	602	988	19	31

Genomic Location (Zv9):

Chromosome 21 (position 9442760)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	10814813
GRCz11	21	10907441

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AAACACAGTGGGAAGACCCTCGTCTCCAGAGTCCTGCCATAACTGGACCC[G/T]TAAGTGTTTTTCTCKTATTTTGCAGTCACAATCTGTCTCTTTCTGTATAT

Long Flanking Sequence:

AACACATTTCTAAACATAATAGCTTTAATAACTGATTTTTTTTATCCTTGCCATGATGACAGTAAAAAAATATTTGACTAGATATTTTTAAGATACTGTTTTTCTGTTCAAAGTGACATTTAAAGGCGTAACTAGATTAAATAGGCCAGTTAGGGTAATTAGTTTGTTCAGTAGACAATCTGAAAAATACATATATAGCTTAAGGGGCTTATAATATTGATCTTAAATGGTTATTAAAACATTAAAACCAGCTTTATTCTAACTGAAAATAAAACAAATAAGAGATAGATAAATAAAAAATAATGTGATGAATTCCTTGCTTGGTTAAACATAATTTGGGAAGTAATTGAAAAAGAAAAAAACAATTCACAGGAGGGCTAATCATTTTGACTTCATCTGTATATGTATATGAGCTAATAAAGTTCCTCTTCTCCTTCTCAGACAACAAAAAAACACAGTGGGAAGACCCTCGTCTCCAGAGTCCTGCCATAACTGGACCC[G/T]TAAGTGTTTTTCTCTTATTTTGCAGTCACAATCTGTCTCTTTCTGTATATGTGAAAAATATGTCGACAAAAATAAATGGATAGATTTTTGCTTGCTATTAAATTAAGCTGAGAAAAAAACTACTTGAATTAAAATTAGCTTGTGAAATGTGTATTTTAATATAATAATATAGTACATTTGTAGTTTTTGCATCATTTGTTAAAAACCATTTTAACCCAACGTTTTATTTTTTAAAACCATTTTTCCTGAATTACAGTTACAGAAGTAATTTAATATTTTTTTAAAATCATAAATTAAATTAAAAGAACAATTAAATTAACTTAAATTAACATGAGCTTGTGAAATGTGTATTGTATTATAAAAATATAGTAAATTTGTAGTTTTTGCATTATTTTTAAATCATTTTTTTCTGAATTACAGTTGCAAAAGTTGTAGAGATGATTTTTATTTGAAATGTTTTTTTATTTGGACAAACATATATAAAAAATAAATAGCTAAGT

Associated Phenotype:

Not determined