Busch Lab

ZMP

ptpreb

Ensembl ID:
ENSDARG00000021151
ZFIN ID:
ZDB-GENE-060503-263
Description:
protein tyrosine phosphatase, receptor type, E, b [Source:RefSeq peptide;Acc:NP_001038642]
Human Orthologue:
PTPRE
Human Description:
protein tyrosine phosphatase, receptor type, E [Source:HGNC Symbol;Acc:9669]
Mouse Orthologue:
Ptpre
Mouse Description:
protein tyrosine phosphatase, receptor type, E Gene [Source:MGI Symbol;Acc:MGI:97813]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa31012 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa36441 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa31012
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000009276 Essential Splice Site 372 686 11 19
ENSDART00000123027 None None 89 None 6
ENSDART00000143444 Essential Splice Site 363 677 13 21
Genomic Location (Zv9):
Chromosome 17 (position 29398323)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 29322250
GRCz11 17 29339213
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTGTGTCCAGAATCAGAAAGCAGCGCTGTCAGCTCATTCAGACAGATG[T/G]AAATGACTTTCCGCAGTCCCACTGTTGTATTTGACTCATCATTTCAGCAA
Long Flanking Sequence:
TGCAGAAATAACCACCAACGCAGATGTCTTGAGGCTCAGCTGTTAAACAGCCTCCGCATGTGGGATTGTTAGCACCTCAGCCAGAACAACAGACTTTCTGATTTGCTACAGTGTGAAAAGCCCCTTACCGCAGTGAAACACAAACTGCAACTTCTCTACAGTAGGTGCACTACACAGTTCAATATAAATATTAAATAAATGCCATGTTTAATTGAACAAAAAAAAAATATATATAATCATTTTTCCTAAAATAGCCATTCAAATGGAAAGACCCTGCAGTTTTGAGTACATGATCTCATTATCCCACATTTCATGCCCTACTTATACACGGCTGATCTCACCGCTTATTTCCTGTCTGTGTAGCGCTGGGGTTGGCAGGACCGGTACCTTCATTGTGATTGACGCCATGATGGATATGATGCACGCTGAGGGCAGGTTGGACGTGTTCGGCTTTGTGTCCAGAATCAGAAAGCAGCGCTGTCAGCTCATTCAGACAGATG[T/G]AAATGACTTTCCGCAGTCCCACTGTTGTATTTGACTCATCATTTCAGCAAAGACAAGCCACTAATATTCCCTTTTCCCGCCCACAGATGCAGTATTCATTCATTTACCAGGCACTTTTGGAGCATTACCTGTTTGGGGACACTGAGTTAGACATCGCTTCCCTGGAGGGTCACCTTCATAAACTCCACAACACGCACACAAACATGGACCGCGTGGGCCTGGAGGAAGAGTTCAGAGTAAGACAAACATTAGTTTATACAGCTTAAGGGCAAACATGAGTCAGTACGAACACACACAGTGGCAAACGGGAACTGCTTTGTTTTCTTTTATGTCATGTTGTTTTGTTTGGAACCTCCTCAGAAACTGACTAATGTTCGCATCATGAAGGAGAACATGAGAACCGGAAATCTGCCCGCCAACATGAGAAAGAACAGAGTTCTGCAGATCATCCCATGTGAGAAGATACAGATTTCCAGATTTAGCATTTGTAAACGTTACTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36441
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000009276 Nonsense 472 686 14 19
ENSDART00000123027 None None 89 None 6
ENSDART00000143444 Nonsense 463 677 16 21
Genomic Location (Zv9):
Chromosome 17 (position 29399774)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 29323701
GRCz11 17 29340664
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAACAGGGTAATATTATCAATGAAGAGAGGCCAAGAATTCACAGACTA[C/A]ATTAATGCATCTTTCATAGATGTAAGTATTCTTCACAAATATTTGTATTA
Long Flanking Sequence:
CTTTTGTTTTCTGGCACTCTGTTCATTTCCTCTTCCTTTTCTTGCGCTTTATTTAGTTTTCTTTCTCATTCTTTCTTTCTTACTTTTCTATTTTTTGTCATCTTTTTTCTTCTTTTCTCTGTCTATCCTTTCTCTTTTTCTGTCACTGTTTTCATTTTGTCTTCATTTATTGTTTTTTCTTTCTTGGTCTTTCTTTCTTATCTTGTTGTTCTTTCTCAATTCGTTCGATCCTTTCCCTTTTGTTTTCTGGCACTCTCTTCATTTTGTCTTCCTTTATTTCTCTTTCCTTAGTTATCTTTCCCATTCTTTCTGCCTTTCTTATCTTGTCTGTTTTTTTTTGGGGTTTTTTTTGGTTTCTGACACTTTCCATATTTTCATTTTTCTCTCATTTCCTTTCTTTGATCCATTCTTTCAAAATCTAATCATTATCTTGTCTTATTACTAGATGACTTCAACAGGGTAATATTATCAATGAAGAGAGGCCAAGAATTCACAGACTA[C/A]ATTAATGCATCTTTCATAGATGTAAGTATTCTTCACAAATATTTGTATTAATAAAAATAATAATAATAATAATAAAATTATTATTATTAATATTAATATTACCATTATTAGTCAACATGTCAACTTACAAATTCTTTACCTTTGTAGGGTTACAGGCAGAAGGATTACTTTATTGCAACTCAGGCACCTTTGGCCCACACTGTGCAGGACTTCTGGCGTATGGTTTGGGAGTGGAAGTGCCACTCTATCGTCGTGCTGACTGAGCTAAAAGAAAGAGAACAGGTACCGTTTAACGGTTTATATTTAGTTACATTTCACATTCACAGTTTAACGTCTGGCACATTACCATTTTCAACAACTTTCCCTCCAGGAGAAGTGTGTGCGTTACTGGCCAGCAGAGGGCAGTGTTTCGTTCGGAGATTATGTACTGGAGCTGAAAAGAGACACACTTTGCGAGACTTTCAGTATTCGGGACATGCTGCTGTCATATGCATCAGTGA
Associated Phenotype:
Not determined