bmp1a

Ensembl ID:
ENSDARG00000028071
ZFIN ID:
ZDB-GENE-060818-1
Description:
bone morphogenetic protein 1a [Source:RefSeq peptide;Acc:NP_001035126]
Human Orthologue:
BMP1
Human Description:
bone morphogenetic protein 1 [Source:HGNC Symbol;Acc:1067]
Mouse Orthologue:
Bmp1
Mouse Description:
bone morphogenetic protein 1 Gene [Source:MGI Symbol;Acc:MGI:88176]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa7161 Essential Splice Site Mutation detected in F1 DNA During 2014
sa5510 Essential Splice Site Mutation detected in F1 DNA During 2014
sa2416 Nonsense Available for shipment Available now
sa12765 Essential Splice Site Available for shipment Available now
sa17110 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa7161
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127875 Essential Splice Site 210 1013 5 20
Genomic Location:
Chromosome 8 (position 53508618)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGATTGTGTTCTTTGSATATTAACTGTAGTGTTTATTGYGCTGTCCTCA[G/T]GTGCWGTTCATACGTGGGCCGCAGAGGAGGGGGTCCGCAGGCCATWTCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5510
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127875 Essential Splice Site 507 1013 11 20
Genomic Location:
Chromosome 8 (position 53471975)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACCGTTGCCCAGGGTTACCACGTCGGCCTCACCTTCCAGTCTTTTGAGG[T/A]ATGATCAAAAAANCNGAGTTATCACTGCATGTAAKTAACTGCTTATACACCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2416
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127875 Nonsense 522 1013 12 20
Genomic Location:
Chromosome 8 (position 53469811)
KASP Assay ID:
554-2518.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATGCAAGATCGAGAGGCATGATAACTGTGCGTACGACTACCTGGAGGTT[C/T]GAGACGGGAACTCRGAAAGCAGCCCGCTTTTGGGCAGGTTCTGCGGTTAT
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:
sa12765
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127875 Essential Splice Site 668 1013 14 20
ENSDART00000127875 Essential Splice Site 668 1013 14 20
Genomic Location:
Chromosome 8 (position 53462410)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTACCGCATCAMGCTGCTTTTCGACGTCTTCGAGACCGAGGGCAACGAT[G/A]TGAGCACTAGRTTTTTACCACTGAGWRGGGTGGGTCTGTCYGGTTCATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17110
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127875 Essential Splice Site 668 1013 14 20
ENSDART00000127875 Essential Splice Site 668 1013 14 20
Genomic Location:
Chromosome 8 (position 53462410)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTACCGCATCAMGCTGCTTTTCGACGTCTTCGAGACCGAGGGCAACGAT[G/A]TGAGCACTAGRTTTTTACCACTGAGWRGGGTGGGTCTGTCYGGTTCATTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/leki91ey