Busch Lab

ZMP

si:dkey-101k6.5

Ensembl ID:
ENSDARG00000055136
ZFIN ID:
ZDB-GENE-081105-143
Description:
Novel protein similar to vertebrate transforming growth factor, beta receptor II (70/80kDa) (TGFBR2)
Human Orthologue:
TGFBR2
Human Description:
transforming growth factor, beta receptor II (70/80kDa) [Source:HGNC Symbol;Acc:11773]
Mouse Orthologue:
Tgfbr2
Mouse Description:
transforming growth factor, beta receptor II Gene [Source:MGI Symbol;Acc:MGI:98729]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa9311 Nonsense Mutation detected in F1 DNA Not yet available
sa41488 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9311
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077446 Nonsense 183 590 4 7
ENSDART00000131738 Nonsense 156 518 3 6
Genomic Location (Zv9):
Chromosome 9 (position 39626593)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 38764489
GRCz11 9 38574284
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACCTGTATCGCACACGTCAGCCAGGCAAAAAGCCCAAGGAATGGGGACMA[C/T]GACGGACCCACTACCAGTCTCTTGATCCTGCCGAGGGCCAAGCTAATGGC
Long Flanking Sequence:
TAGACATACTGTGAAAATTTCCTTGCTGTTAAACATCATTTGGGAAATATTTTAAAAAAAGAAAACTCAAAGGGGGCTAAAAATTCTGACTTGAGCTGTATACAATATGAAGCTTCATTCATATATTAAATATTGGCATTGAAAATAAGCCAAATATTGATTTAACACAAAATAATTTAAAATATTTGACCACTGTCAAACAAAATGTTTACAGCAAACTCTAACGGCTCCAAAACATCTCTTTGCCCATCCAAAACTACCTCTTGTGAAGTAGCATTTAAAATGCTTTCTTTGACAGCAGCTGCATATGGAGTCTGTGTGTGCTAATGTAATCACTTCCCTTTATCCCCTCAGGATTCTCAAAGCTGAAGTCTAAAGACGTGATTCCAGTCGTGGTCATAAGCCTGGTTCCTCCCCTCTTAGTAGCGGTCATTGCGACCATGGCTTTTTACCTGTATCGCACACGTCAGCCAGGCAAAAAGCCCAAGGAATGGGGACCA[C/T]GACGGACCCACTACCAGTCTCTTGATCCTGCCGAGGGCCAAGCTAATGGCATCGACTTTAGTGCCAAGCGGCCATCCCTCAGCGATGACATCAATTCAGAAATGTCATCGACTTGTGCCAATAATCTAAACCACAACACGGAGCAGCTGCCCATCCAGCTGGAGGCGCTGGTGGGTAAAGGGCGCTTCGCGGAGGTATGGCGGGCACGACTTAGTCATAATGAAAGCGGGCAGTATGAAACGGTGGCTGTGAAGATTTTTCCAGCAGTGGAGTATTCATCGTGGTGTAACGAAAGAGCCATATTCTCTGATGCCAACTTGAAACATGAGAACGTGGTGCAGTTTCTGACGGCTGAGGAGCGGGGCGGTACGTCTGCCACCTCCCAGAGGCAATACTGGCTCATCATGGCTTATTATAACATGGGCAACCTTCAAGACTTTCTGGTTGGGAATATTCTGACATGGGCAGAGTTGTGTTCACTAGCAGGCTCTGTGGCAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41488
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
ENSDART00000077446 Essential Splice Site 412 590 5 7
ENSDART00000131738 Essential Splice Site 385 518 4 6
Genomic Location (Zv9):
Chromosome 9 (position 39620185)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 38758081
GRCz11 9 38567876
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTAATTCAATTTGAGGAAGTTTCGAATCACATGGTCTGTGTTCGTCTA[G/T]GTGGGAACTGCCCGCTATATGGCCCCAGAAGTTCTGGAGTCCAGGGTGAA
Long Flanking Sequence:
TAGAGAAGGGATGTAAAATGTGCATTATGATAAAATCAAAGTATATAGTACATGCACTATTAACTAAAAACTAAACCATAATAGGGGTACTTAAAAGATGTGGACTGAACCCAAACATCTAAACATTTCTAATTCAACATTTTTGTGTGCTTTCCTCACCATCTTTAGGGACTATGTTTAGACCACTTAAGCAGAAATTTTGACTAAAAATAAAAAGGTTAGAAGCCAGTATAGTCACCCAAAACACCCATGTAATGTCTGCATAGTTTCCAGAAAGAGAGCTTCAAACGTTCACAGAAAACAGCCATTCCAAAACAGATCAATGAAAGTATGATCTGAGTGGGAAGAACTGCAGCAGGCATGAAGATCAATTCTTCAAGCTCTCTCAGTGCAACCTAAAAGCTCTGTGGTTGATTTGTAAAGGTCATGGATTTAATCACATTACACCAATGGTAATTCAATTTGAGGAAGTTTCGAATCACATGGTCTGTGTTCGTCTA[G/T]GTGGGAACTGCCCGCTATATGGCCCCAGAAGTTCTGGAGTCCAGGGTGAATCTCGAGGACCTGGAGTCCTTTAAACAGATTGATATCTACTCCATGGCTCTAGTGATGTGGGAAATGGTCTCTAGGTGTGACGTCATAGGAGGCAAGTAAAGCTCTCGATGCATATATTCTCTTGAGGTTAAAACCACGCCATAATGTTATGAAGTATCTGTTTGGTTTTCAACAGAGGTAAAGAGTTACGAACCTCCATTTGGCTCCAAAGTGTGTGAGCAGCCGTGTGTGGACAGCATGAGAGACCTGGTGTTGAGAGACCGAGGAAGACCAGATATTCCAGACAGCTGGACCACACATTCAGTGGGTGCACAATTATAACTGTGGATTTATGAAGTGCAAAACACTGGGTTATATATGAATATTTGAATGTCATTTTTAAGCAGCACTGTAGGGTTTTTTTTACATTAAAATTATGTCTAAAATGATTTCAGTGGTAGAATAACTTT
Associated Phenotype:
Not determined