ZMP

bmpr1aa

Ensembl ID:

ENSDARG00000019728

ZFIN ID:

ZDB-GENE-000502-1

Description:

bone morphogenetic protein receptor, type 1a [Source:RefSeq peptide;Acc:NP_571696]

Human Orthologue:

BMPR1A

Human Description:

bone morphogenetic protein receptor, type IA [Source:HGNC Symbol;Acc:1076]

Mouse Orthologue:

Bmpr1a

Mouse Description:

bone morphogenetic protein receptor, type 1A Gene [Source:MGI Symbol;Acc:MGI:1338938]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa8457	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa44785	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa8457

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000026768	Essential Splice Site	77	527	None	13

The following transcripts of ENSDARG00000019728 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 13 (position 22753525)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	22482863
GRCz11	13	22613313

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCCACTGCTCAGGACATTGCCCCGATGATGCCAAGAACAATACCTGCGAG[T/C]GAGGGCCACATGCACCTTTTAAATGATCAAGATTGTGCTTTCTAAAAACA

Long Flanking Sequence:

AATGTACATATGGTGGATTAATAATTTTGTTAGTTTAGTTGCACCATTAAATATGTCCGAGAAATAACCACCAAAAAAATGTAAGCCATTATTTTGTTAAATGTTTTTTTTACCATAATTTGGTTAGTTAATTGTTGAAGTCTTGGTAGTTTTTTGTTCTTGGTACCTTGAACGTGTTAACTGTCAGTTTAGATCCATTTCTGGATAAAAGTATTGTCTTTCAAAACAAAAGCAATGGTGAATTCAGCAGTCCTAATGCAGTTTCTGGAAGTGCAGATTTGGATTAGTCATTTGGTGTCTCTGAGCTGCCACTGATTATTACTGTTTTACAACTTCCAGCAGGTCAGAATCCTGATCATGTGCTGCAGGGCACTGGAGTGAAACTGGACTCCAGGAGACCTGGGGATGACTCTACTATTGCACCAGAAGATGCTGCTCGCTTCCTCAGCTGCCACTGCTCAGGACATTGCCCCGATGATGCCAAGAACAATACCTGCGAG[T/C]GAGGGCCACATGCACCTTTTAAATGATCAAGATTGTGCTTTCTAAAAACATTGAAGTTGATGAGGTTTTTTTTTTTTTAAACCCAACAGGACAAATGGGCAGTGCTTCGCAATTATTGAGGAAGATGAAAATGGAGACGTGATCTTAAGCTCAGGCTGTATGAAATATGAGGGCTCACACTTTCAGTGCAAGGTAAAGAAAGTGGTTTCCCGTAAGTGTTTTGTACTTTTATGTAATTAAATAAGTTGTACTCATTTAAAAGGTGTTTTTTTACAGGATTCACAGTTTGCACAGACTCGTCGAACCATTGAATGCTGCCAGTTTGATTTTTGTAATCAAGACCTGAAGCCTGAGCTGCCGCCTCGAGACTCGGGTAAGCTGCTGCACTGCTGAATTTGATGGTGTTGTAAGATTAATTTATTGGAGATTGTTCATTTACAAATTTTCACCAGACTCTAGTTTTAGCTACCCCTCACAACAGTGATTTCATTGTAAGATTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa44785

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
ENSDART00000026768	Nonsense	190	527	8	13

The following transcripts of ENSDARG00000019728 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 13 (position 22754761)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	22484099
GRCz11	13	22614549

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCAGGTATAAGTGGCAGACAGAGAGGCAGCGCTACCACAGAGACCTGGAG[C/T]AAGACGAGGCCTTTATCCCAGCAGGAGAATCCCTGAAAGACCTCATCAAC

Long Flanking Sequence:

GGACATATGTTTTCTCTTGATCTGTTTACAGAACCACCAGACCCTCACTGGCTGGCCTTTCTCATCTCAGTGACTGTGTGCTTCTGTGCTCTCATCTGTGTCACTGTCATCTGTTATTACAGGTGAGATCATCACCGCACTTAAGCAGCAAAACACACTGAAGCTCTTACATGTAATGGCTGCTTGTGACATGCCTGTTTTTCCACATCACTGAACTGTAAGCGAAATGCCCTCTGAAAACACATGCCACCCACATCATGGCCTGTTGTTGTCAAAAGAGACTATTGTGTTACTGCAAGTAGGGGCAAGACTCTGTTCCTTGGCTTGTGAAAATAAATCTTTTAAAGTGCTGTAGCATACAGCAAATATTGTTTTGTTTATAAGAGGAGTCAGGAGTGATCTCTTTAACATCAAAGATACAAAAAAAACAGCTTTGACTGTGTTTTGTCATCAGGTATAAGTGGCAGACAGAGAGGCAGCGCTACCACAGAGACCTGGAG[C/T]AAGACGAGGCCTTTATCCCAGCAGGAGAATCCCTGAAAGACCTCATCAACCAGTCTCAGACCTCAGGCAGTGGCTCTGGACTCCCTCTGCTGGTGAGAAATCACAAATGCTCACTGAATGACTGTGCCTGACGATGTCTTGTGTTTTAACTGTGCCTCTGTTCACATCTTACAGGTGCAGCGCACTATAGCAAAGCAGATCCAGACAGTGCGAATGATCGGAAAAGGACGATATGGAGAAGTGTGGCTTGGTCGGTGGAGAGGAGAGAAGGTAGCAGTGAAGGTGTTCTTTACCCGAGAGGAGGCCAGCTGGTTCAGAGAGACAGAGATCTATCAAACCGTGCTCATGAGACATGAGAACATACTCGGTAAAATGTCATTCATGATGTTTGTCATTGAGTTTCAATTCTAGGGCCAGGCAAAAATATAGATTATACTTCTTAATATATATATTTTTATAAATGTGCTTGATTCAGTATAATTTCTCAAAAGCCATGAATC

Associated Phenotype:

Not determined