Busch Lab

ZMP

efemp2

Ensembl ID:
ENSDARG00000012437
ZFIN ID:
ZDB-GENE-041212-8
Description:
EGF-containing fibulin-like extracellular matrix protein 2 [Source:RefSeq peptide;Acc:NP_001008587]
Human Orthologue:
EFEMP2
Human Description:
EGF-containing fibulin-like extracellular matrix protein 2 [Source:HGNC Symbol;Acc:3219]
Mouse Orthologue:
Efemp2
Mouse Description:
epidermal growth factor-containing fibulin-like extracellular matrix protein 2 Gene [Source:MGI Symb

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa1694 Essential Splice Site Available for shipment Available now
sa15681 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa1694
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028849 Essential Splice Site 32 440 2 11

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 14 (position 31563443)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30353500
GRCz11 14 30693814
KASP Assay ID:
554-1640.1 (used for ordering genotyping assays)
KASP Sequence:
TCTCCACCGCGCTATTTCACAGCCACCCACAGAAACTGACACCTACACGG[T/A]AAGGAGGAACGAAACCTTCCCCTGYYTCTCGCTACACTTTCTTTATCTTC
Long Flanking Sequence:
GTGTTTTACAGTGTAACAATGCGAGTACAAATATTGCAATTTTAATATAACCACTAGAGGGAGTCTGGTAATCAAGCAACTGCAGCGGCTAAAAATAGGGTATACATTTCTGATTAATGAAAGTCCTTACAAATCATTAAACTCACTGGAAGGCGCTAAAATTAACAACAGACCGATGTTTTGATATTTAGGAACCGTGTGATTAATATAACTGGGTCACATTTAAGTATTCAAATCCTGAGTAAAGCTTGCTTCTGAAGTGGTTTGTTTATCATCCACAGGTTCCTCAGCATCATCTGCTCCACACCATCGCATGTCTGTCTGACCTCCTCTCTTTACTAAACACTATTGGGGGTGTTTTTGTGTCTGTGCTCATCGAGACCTGTTGAAGGGGTGTGTGAGGATGCGGCCCGGGTGTGTTTTGCTCTTTTGTATGTGCATCTCTGTGTTTCTCCACCGCGCTATTTCACAGCCACCCACAGAAACTGACACCTACACGG[T/A]AAGGAGGAACGAAACCTTCCCCTGTCTCTCGCTACACTTTCTTTATCTTCATTATGTAAAATACACCCTTTCATCTTAAATTTACACAAACTGCAGGTGTACTCAGGCTACATCTACAGTGTTTACTTATTCATGTGTATTTTATAGGAATGTACAGATGGATATCACTGGGATTCACAGACTCAGCACTGCAAAGGTAAAACACGCTTCATGTCTCATATACCCCAAACCTCAAATTTACAGGATCCATAATCAGTATATACAAATACATCAAAAACATTTGATATAAGCGTATGGTTATAACTAAAACACATTTTTATAATGTAAACATAATAAATGGCCACAATGTAAACATAATAAATATACACACCGTATGCTGTGTAGGCCTGTTTGTATAAAATATACTACAGCTAAAAATATGGGAATCACTATGTTAAAAAAAATTACAAAACCTCGAATCAAGTAGCATAGTTTTCTTTTTATTTATAGACTATTTCAAT
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:
sa15681
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028849 Essential Splice Site 33 440 None 11

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 14 (position 31563297)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30353354
GRCz11 14 30693668
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGTGTAMTCAGGCTACATCTACAGWGTTTACTTATTCATGTGTATTTTAT[A/T]GGAATGTACAGATGGATATCACTGGGATTCACAGACTCAGCACTGCAAAG
Long Flanking Sequence:
TGGAAGGCGCTAAAATTAACAACAGACCGATGTTTTGATATTTAGGAACCGTGTGATTAATATAACTGGGTCACATTTAAGTATTCAAATCCTGAGTAAAGCTTGCTTCTGAAGTGGTTTGTTTATCATCCACAGGTTCCTCAGCATCATCTGCTCCACACCATCGCATGTCTGTCTGACCTCCTCTCTTTACTAAACACTATTGGGGGTGTTTTTGTGTCTGTGCTCATCGAGACCTGTTGAAGGGGTGTGTGAGGATGCGGCCCGGGTGTGTTTTGCTCTTTTGTATGTGCATCTCTGTGTTTCTCCACCGCGCTATTTCACAGCCACCCACAGAAACTGACACCTACACGGTAAGGAGGAACGAAACCTTCCCCTGTCTCTCGCTACACTTTCTTTATCTTCATTATGTAAAATACACCCTTTCATCTTAAATTTACACAAACTGCAGGTGTACTCAGGCTACATCTACAGTGTTTACTTATTCATGTGTATTTTAT[A/T]GGAATGTACAGATGGATATCACTGGGATTCACAGACTCAGCACTGCAAAGGTAAAACACGCTTCATGTCTCATATACCCCAAACCTCAAATTTACAGGATCCATAATCAGTATATACAAATACATCAAAAACATTTGATATAAGCGTATGGTTATAACTAAAACACATTTTTATAATGTAAACATAATAAATGGCCACAATGTAAACATAATAAATATACACACCGTATGCTGTGTAGGCCTGTTTGTATAAAATATACTACAGCTAAAAATATGGGAATCACTATGTTAAAAAAAATTACAAAACCTCGAATCAAGTAGCATAGTTTTCTTTTTATTTATAGACTATTTCAATGTGGTGATGTCATTGTCCCATAAACATTTCCTGCTTGTTGTCAAACTTTTTAATAACTGTAAAAAGAGGGAATTCAATCATAACTTAACGTTAAAACAGCTATATTAGCATTATTTATCTTCATGGGGACCTTTTTTTTGATTTTC
Associated Phenotype:
Not determined