ZMP

emilin1a

Ensembl ID:

ENSDARG00000024537

ZFIN ID:

ZDB-GENE-041001-191

Description:

EMILIN-1 [Source:RefSeq peptide;Acc:NP_001025378]

Human Orthologue:

EMILIN1

Human Description:

elastin microfibril interfacer 1 [Source:HGNC Symbol;Acc:19880]

Mouse Orthologue:

Emilin1

Mouse Description:

elastin microfibril interfacer 1 Gene [Source:MGI Symbol;Acc:MGI:1926189]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa1155	Nonsense	Available for shipment	Available now
sa37101	Splice Site, Nonsense	Mutation detected in F1 DNA	Not yet available
sa37102	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa1155

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

Mutation:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000035612	Nonsense	375	1008	4	7
ENSDART00000128895	Nonsense	375	1014	4	8

Genomic Location (Zv9):

Chromosome 20 (position 34884722)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	34957235
GRCz11	20	34860114

KASP Assay ID:

554-1066.1 (used for ordering genotyping assays)

KASP Sequence:

TGAATAACCGCCTTCGAGACCTGGAGCGGAGATTGAATGGGACTGTGAGA[A/T]AAACTGAGCAAAAATGCTCCCATACAGAGACAAGTATGAAGGAGTTTGTC

Long Flanking Sequence:

ACATGCTGGACAACATGACACGAGTGCATGACAAGACCCTCACAAACATCAACAACCACCTTGTGGGCGGCAATGGAATTGAGAATGAGTTGGACAGTCGCTATGGCACACTTAAAGAGGAGATTCTACGGGAGCTTGAACGGCGGGTGACGCTGTCTTGTTCGTCTTGCCAAACCGGAGTGGAGAGCATACAAAGGCAACATCAGGAAGACAGAGAGAGGATCCGAGAACTGGAGAAGCACATCAGTGTGATGGAACAGCACCACCAGCAAACCTTAGACTTGCTATCACGCTCTCAGAGTTGCTGTGATTCCCTGGACAGGAAGCTCAGTGCAATTGACAGAAAGGTAAGTTCGACTGCAGAGACATACGATATCCTTAGAGGACGCCTTGAGAAGGAGCTGAGAAGTAATGGCAATGGAGGTCGTGGAAAAGCTATGGAGGAAAAACTGAATAACCGCCTTCGAGACCTGGAGCGGAGATTGAATGGGACTGTGAGA[A/T]AAACTGAGCAAAAATGCTCCCATACAGAGACAAGTATGAAGGAGTTTGTCCAGAGAGAGATCGGCCAGATAAAGAACTCAGTCCTCGGTCGAAACGATGATCATGGTTATAGGATATCTACAGTTGAGATAGACATCCAAGACTTGAAGCGTTTTATTAACGATCATAAAAATAACCTGGAACGGTTAGGGAACAAAACAAACGATCTTGACAGTGGGCTTAAGTCAGCGATTCATTTGTGCACAGAGACATGCGCTGCCAAAGGGAGTGAGACAGAAGATACTGTGAAAAGCCTGGAATGGAAGGTTGTTGCCAATGAGGAGGACATTAAGAAGTTTGACACCAAGCTAAAGGATATAAGTGTGTCTGGTGACTCCTTATTGGACCGTGTAATAGATCTAAGCAATGACGTTCAAAAAATTAAGGATCTGACAGGACAAAATGGAGAACACTTTAACCAAATCGTCACCGATGTGGAGAATCTGGGACGTGATTGTGAC

Associated Phenotype:

Normal

Stage	Entity	Quality	Tag
Larval:Day 5 ZFS:0000037	whole organism ZFA:0001094	quality PATO:0000001	normal PATO:0000461

Mutation Details

Allele Name:

sa37101

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:

Splice Site, Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000035612	Splice Site, Nonsense	815	1008	4	7
ENSDART00000128895	Splice Site, Nonsense	815	1014	4	8

Genomic Location (Zv9):

Chromosome 20 (position 34886042)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	34958555
GRCz11	20	34861434

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TACGGAATGTTCTCAAGGAGTTCCAGATCTTCACTGAACAGGACTTTACT[G/T]GTACGTTCTTAGAATTTATACAGTATACAACATATAGAAATTTGCTACAT

Long Flanking Sequence:

CCATCAACGATACTCTAAAAGGCCTCAGGAACACCATACAGAAGCATGGCAACAATATTACTGATCTGAACACGTCTAAGGGCAAAATCTACTTGGAGTTGGATCAGCTTTATGATGATCTGAACAAGCACAAAGTGGACAGCAAAGGACATTTCGACAGCATCAGTAGCTTTAACAGCAACTTGATGACTGAAATGGGAGAATGCAGACTTTCTCGAGAGGGCCTGGATAAAAGGCTTTCAAAGATGGAAGATGTCTGCGGTAGACTGGATACTTTGTCAGAGAACCTTAAGACAATTAAAGATGGCCTGAGCAAACACGTCTCTGGGCTTTGGACTTGTGTTAATGATCTAAACTCCACGGTTATCTCTCACAGTGAGACCATTAGCCGCATTCATAATGTTCACTTGGAGAACATTCAAGGCCGGATGAACAATCTTAACTCTTCCATACGGAATGTTCTCAAGGAGTTCCAGATCTTCACTGAACAGGACTTTACT[G/T]GTACGTTCTTAGAATTTATACAGTATACAACATATAGAAATTTGCTACATTTCAATAAAATAGAGGCTGGCAGATCATCAAAACAACGTGTTTACAAACTTTATATTCTATCACTCCAGTGACTAGTAATTAAGTTGGGTGATCAGGCAAGTCATTGGAAAACAGTTTGTAGTGTAGCCAATTAAATAAAATTGAGGCAGCTAATGATATTGCTAATAATACTGACATTGGAAGCTTTTAAATTGTTTAAAATATATATTTTTTTATTCCAGCCATACTACAAGAAATACTATTATTTATTTATCCATAAGAAAAACATATTCAATGAACAGCGGATTAGTGCATCAGCAGGGTTAGAGGAGCTAGAGGAAGTGTCTGGGAAGAGGAAAATATGGGGTTCTTTCCTAAGACTGCTGCCCCCACGACCCAGTCCCAGAAAAGTGGATGAAAATGAATGAATGAATGAATGAATGAATGAATGAATGAAAATATAATAATAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa37102

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
ENSDART00000035612	Essential Splice Site	853	1008	5	7
ENSDART00000128895	Essential Splice Site	853	1014	5	8

Genomic Location (Zv9):

Chromosome 20 (position 34887636)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	34960149
GRCz11	20	34863028

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTAGGAAAGGAAGGCCCACAAGGGAGAGTGGGGCCGGTAGGACCCCCAG[G/T]TAATTAAATGACAACAAATAAATAAATACTACAAAGTTGTAACAACACTG

Long Flanking Sequence:

TCTAAAAGTGGAGTTTTGAGTAATGTAAAGTATTTAATAATGACTATTCCCCCATTGTGTGACCTGGTATGATATTCTAAACCCCTAACAAAACTTCAACTAGCATTTTTCTCATTATTTAAATTATTTTACACTAAGCTTCTATGATGGCACATTAACCGAGAAAATTAATATGCCAAACCAAATGATTAACTAATAAATTACTGAGGGCTAAAGATATTTCAAACACTTTAAATAAATGATCTCCAAAGCATGGAGCCATGTTTATCTTCTATATTGAATTTGACATAATAAAAAAATTCATGGACACAATATACTATACATCAACTATTCATATTCAGTTTCTGAATGTAAAAATAAATCTATTTTGGGTCAATTTACAGGACCTCCAGGTCTGCCAGGTCCTCAAGGAGAGAAAGGATCTAAAGGACCACCTGGGCCACGAGGACCTCTAGGAAAGGAAGGCCCACAAGGGAGAGTGGGGCCGGTAGGACCCCCAG[G/T]TAATTAAATGACAACAAATAAATAAATACTACAAAGTTGTAACAACACTGGCTTTGGTGTGGTTAAATTAATACTATTTATATACATTTTGTGTCCTATTTAGGGCTCAGAGGTGAACAAGGTCAGTAATCTAACTAATACAACTCCCATGACTTGGGTTTCTACTACAAATATTTGTTTAATTGCAAATAAACATAATTTAAAAAAAATCTTCATGTGCTTACCAGGACCTCCTGGAAAGGATGCCAATGTTCCAAGACTGTCGTTCTCAGCAGCCCTCACAAGACCCCAAGCCAGTTCAGGCACAATTATTTTCAACAAGGTCTTCATCAATGAAAGAAAGGCCTACAATCCAAAAACAGGTATGTATTAAAAAGACGACCCTGTCATGTGTCAATTAAAGGTGCAGTATGTAAGTTTGACACCCAGTGGTTGAACTAGGTATTGCATTCCTGGAAAAAAAACACAAGGACCAACAACAGCGTTCAAGTCTAACGATC

Associated Phenotype:

Not determined