Busch Lab

ZMP

si:dkey-181c1.8

Ensembl ID:
ENSDARG00000060753
ZFIN ID:
ZDB-GENE-100922-167
Human Orthologue:
PEAR1
Human Description:
platelet endothelial aggregation receptor 1 [Source:HGNC Symbol;Acc:33631]
Mouse Orthologue:
Pear1
Mouse Description:
platelet endothelial aggregation receptor 1 Gene [Source:MGI Symbol;Acc:MGI:1920432]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa2863 Nonsense F2 line generated Not yet available
sa36172 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa42751 Nonsense Mutation detected in F1 DNA Not yet available
sa686 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa2863
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
ENSDART00000085848 Nonsense 377 1020 10 23
ENSDART00000131932 None None 271 None 7

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 32801506)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 30540021
GRCz11 16 30497948
KASP Assay ID:
554-3072.1 (used for ordering genotyping assays)
KASP Sequence:
ATCAATTCTGTCCCTGTATATGTTGCTCCAGCTGTCACCCTCTGAAGGGC[G/T]AGTGCACCTGTCAGCCAGGCTGGGCTGGTCTGTACTGTAATGAAACCTGT
Long Flanking Sequence:
CATTCAAATCTCGATATTAGCAATCCATTAACTATGACTTTTGCTTCAATGAGCTCCTAAATTGTTCTTAGGTATTGGGTATGATGTAGAATAAGATCATGCAGAATATGTAGTTTATAAGTACTAATAAGCAGCCAATTTTTCAATAACATGCATGCTAATAAGCAACTAGTTAATAGTGAGAAATGGTCTCTAAAGTGTCATCAAATGTATTCATTTTTTATTGATTGAGATGATCCTGGAGGGGAGTTAATCATGCAAAAATTAAGTAAACAAATTACAAGCATAAATAAATACAATAAAACAAAGATAAAGGTGAAATAAGCAGTGTGTGTTTTGTGGTTTTGTAAATATAAAACCTACACTGCAAAGTCTTTATTGTATGAATAATTCAATACAATTATTCTTAATTAAACAAATATGTGACTACCAGTAGTTGGTGACACATGAATCAATTCTGTCCCTGTATATGTTGCTCCAGCTGTCACCCTCTGAAGGGC[G/T]AGTGCACCTGTCAGCCAGGCTGGGCTGGTCTGTACTGTAATGAAACCTGTGCTCAGGGTTATTATGGTAATGGCTGCCTGGAGCCCTGCCTGTGTGTGAATGGAGGAGTGTGTGACTCAGTGACTGGCCAGTGCCACTGTCCACCCGGATTTACGGTAAGGCTCAAACAAAACAGCTTCTGTAAGAACATACAATAATTGTAACTAATGACACCTCAGATGTTTAATGTATATTTATACATGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGGCTGCACTGTGAGAAGCTCTGTGAGGATGGTTTCTACGGAAAGGGCTGCTTGTCTGCTTGTAAATGTGTTAACTCTATAGTCTGTTCTCCTGTGGATGGAGCGTGTATCTGTAAGGAAGGTGAGTTTTGGTACACTTATTAGCTAAAATAATGTACAAACTACTTGTTCAGTGAATTAAACATTCAGTCAGTCAAGTTATGTTATCAGAGGCATTCACACGGCAGGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36172
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
ENSDART00000085848 Essential Splice Site 468 1020 11 23
ENSDART00000131932 None None 271 None 7

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 32801897)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 30540412
GRCz11 16 30498339
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAACTCTATAGTCTGTTCTCCTGTGGATGGAGCGTGTATCTGTAAGGAAG[G/A]TGAGTTTTGGTACACTTATTAGCTAAAATAATGTACAAACTACTTGTTCA
Long Flanking Sequence:
TCAATACAATTATTCTTAATTAAACAAATATGTGACTACCAGTAGTTGGTGACACATGAATCAATTCTGTCCCTGTATATGTTGCTCCAGCTGTCACCCTCTGAAGGGCGAGTGCACCTGTCAGCCAGGCTGGGCTGGTCTGTACTGTAATGAAACCTGTGCTCAGGGTTATTATGGTAATGGCTGCCTGGAGCCCTGCCTGTGTGTGAATGGAGGAGTGTGTGACTCAGTGACTGGCCAGTGCCACTGTCCACCCGGATTTACGGTAAGGCTCAAACAAAACAGCTTCTGTAAGAACATACAATAATTGTAACTAATGACACCTCAGATGTTTAATGTATATTTATACATGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGGCTGCACTGTGAGAAGCTCTGTGAGGATGGTTTCTACGGAAAGGGCTGCTTGTCTGCTTGTAAATGTGTTAACTCTATAGTCTGTTCTCCTGTGGATGGAGCGTGTATCTGTAAGGAAG[G/A]TGAGTTTTGGTACACTTATTAGCTAAAATAATGTACAAACTACTTGTTCAGTGAATTAAACATTCAGTCAGTCAAGTTATGTTATCAGAGGCATTCACACGGCAGGAAATGAGGCCCAAATACTACATTTAAAAACTGTAATTAAAAAAATCTAGACAAAACGATTTATTTGACAAGACTTGATCAGTACTTCCACATATCAGACTATATTTTCAAGGGCGCAGGCATCAATTGGCTATTGTAGCCTTATGGCATGATTCTCTGTTTTTCCTTTTGTTTGAATCAACTGGAAATACAACAACATCTTCAGATTGAGACGCAGGGTTGTGATAATATACACGCCTTCTAAAGCAAGGCATGCACATAAAGAATTATTTTGGGAATTTCTTGAATCGATATTGTTTTTTTAAACTGAAGTTTAATTCAAATTGAGGAGTCGTTTTTCCCTAATTTCACGACACATCGCCTAATAAATAATCATATAAATGATGATTTCAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42751
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085848 Nonsense 543 1020 13 23
ENSDART00000131932 None None 271 None 7

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 32805145)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 30543660
GRCz11 16 30501587
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGGACCAGGCTGTCAAAACCAATGTGACTGTGTGCATGATGAGGGATG[T/A]GAGAGTGTTACAGGACAGTGTCTGTGTTTACCAGGCTGGACAGGTAAGAC
Long Flanking Sequence:
CTGGCTGTAACCGAACTTGCAAGTGTACAAATGGAGCGTCTTGCGACCCTGCTGATGGGTCGTGCAAGTGCACCGCAGGGTGGAGAGGAGCATCCTGTGACGAGCCCTGTCTAGTAAATAACTGCCTTATCCAGCGCACATGTGTTTAATTTACAACAACCAGCTCAGAATTTTCACGAGATTCAGCTCAAGTCACACTTTCCCTACCATGACCTGAATTCGACATCCGAGTTGTTGTTGTTTCAGCATATCTGTCTTCTAAATGAACTGCAATCATTTTAACACCATCAGCAGAAGTTATTAACCCGATGGCAAACGCATTACACTCTTCTGCTTCGAGAATATGCTGCATGGCCATCATTCAGAATAAAGTAGTAATTATATTGGAGCTCAGAGTTACTTGATCATCCTGAATCAGTATTTCCATTCTGCTTTATACAGATCGGGACTTTTGGACCAGGCTGTCAAAACCAATGTGACTGTGTGCATGATGAGGGATG[T/A]GAGAGTGTTACAGGACAGTGTCTGTGTTTACCAGGCTGGACAGGTAAGACTTCATTTATATTTATAAGGCCTACAGCAGTGAGCAATTAAAGTGGATCATCACCTTTCATCAACATTATCCTAATACTATTGAACGACACCCATTCTTGTCCTTTATTTACTTCTAATGTTGACTATTGTATAGTATATACTGTAAGTCTTAAAAGACCAGTCATGCTATGCTTTTTTGTTAATTTGACTTCCATTCATATGTCTGTGAATGTGAGAGACTGGAAATATGAGCTCCTGCAAAGATGTTTTACATTTTGTTGTATTCCAAAGTCCAAGTTTGGTGAACTCTGGGATGGAAATTCTTATAACACAAAGGTGTTTTGTACAGTTTTTTTTGTAATGTACAATTTCAAGACTGATACATGACAGCTTTACTTCATAGTTGAATTAAAAACACTATGAGGTCTCATGACTTTTTGCATTCAAAGAGAAAACCAATATAAATCATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa686
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085848 Essential Splice Site 650 1020 15 23
ENSDART00000131932 None None 271 None 7
Genomic Location (Zv9):
Chromosome 16 (position 32809245)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 30547760
GRCz11 16 30505687
KASP Assay ID:
554-0594.1 (used for ordering genotyping assays)
KASP Sequence:
AGGAGATTGTCAGTGTTTGTCTGGATATACTGGACCATTGTGTGAACAAG[G/A]TTAGATTTACACACGAACACAAGAATGATTTATAATTTACATCACAAGTT
Long Flanking Sequence:
CCAGTTTCATTAGACATCAAAATCATTTAGAAATTGACTAGTGCTTTTAAAATGCATGAGGCAAACACACTTAAAAATCTAACAAATTCGAAGTAGGACTGTGTTTTTCGAGTGAACTCATCTGGTGGTCTGCAGGTGTGCGCTGTACACAGCAGTGTCCAGAAGGAACATGGGGAATTCAGTGCAACCAGACCTGCTCCTGCCTCAACAGCGCCACCTGTCAGGCACATACAGGAACCTGCTTGTGCAAACCGGGATTTTGGGGAGCTCAGTGTCAACACAGTGAGTTTATATGGTTGTCTGCATCTCTAAGAACTCATGTCAGATTAGAGCTGCTTTTACACAGTGCTTTCTCCTCTACTTCATAGTGTGTAGTGCTGGTCTGTTTGGAGAAAAGTGCAGTCGTCATTGCCCACCATGTGTCCACGCCTCCTCCTGCCATCACATTACAGGAGATTGTCAGTGTTTGTCTGGATATACTGGACCATTGTGTGAACAAG[G/A]TTAGATTTACACACGAACACAAGAATGATTTATAATTTACATCACAAGTTCATGTCAATTCTAATGGAAGTTCAAACAGACCACATATGTTAACCCTTGTTTGGTAATAGGGATGTTTAACTCCACTCCGGGGTAATTTTGAGTCTTAATTAGGCCACAACTTTCTTTATTACAGCAAATGGAATGAGTTTTGGTGACAAATCTTATTTTGACATATATTTTGGAAAACATTTAGAAACTCAACAATACACCCCAGAAAAATTGACTAACCTTATATTATGTTGGTGGCTGTTTTTGCCCCATTTACTTCTATTATAATGCAATTTTTTTTATTTTAAAGCCATGTTAAAATGATCAATTTTACATTTTCCCAACAGGAAAAACCAACAACAATTAGAAATGCATGCCTATATGGTGTCATGGCTTTACGGTCAAAAAGTGTCCTTATAATAGAAGTCAATGGGGCAAAAACAGCCACCAACATAATGAAAGGTTAGTCA
Associated Phenotype:
Not determined