ZMP

smad1

Ensembl ID:

ENSDARG00000027199

ZFIN ID:

ZDB-GENE-991119-8

Description:

Mothers against decapentaplegic homolog 1 [Source:UniProtKB/Swiss-Prot;Acc:Q9I8V2]

Human Orthologues:

SMAD1, SMAD9

Human Descriptions:

SMAD family member 1 [Source:HGNC Symbol;Acc:6767]
SMAD family member 9 [Source:HGNC Symbol;Acc:6774]

Mouse Orthologues:

Smad1, Smad5, Smad9

Mouse Descriptions:

MAD homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:109452]
MAD homolog 5 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1328787]
MAD homolog 9 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1859993]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa32713	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa32712	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa32713

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
ENSDART00000033566	Essential Splice Site	134	472	3	7
ENSDART00000125043	Essential Splice Site	134	473	3	7

Genomic Location (Zv9):

Chromosome 1 (position 35616729)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	35176587
GRCz11	1	35908614

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTATTCAGTTCTGATTCTCATGGTTGACATATTTCTCCCGTTTTCCTGCA[G/A]TGCTGCCACCCGTGCTGGTTCCACGAAACAGCGAGTTCAACGCTAAACTC

Long Flanking Sequence:

GAAGCAAATCTTTTCAAAGTTCGCAAAAAAAGACAAAATCCCAAATGGGAATTAGGTGCATTTCCATCAAGTTGTTGGAGAGGTCGACTGTACCAATACTACCAATACTACAGTCGACCTCTCCAACAACTTGATGAAAACACACCTAATTCCCATTTGGGATTTAACCAAGGGAAGCATAAAGGAGGCGACTGCAGTCACATTGGTGTAATTTATTCTCATTTCCGTCTCCCATTATTAACATTCAGCATTTTTTGCACAAACTCAAAACCATCTCAACCAAGCATAAAAACCTTTTTGCCAACTTTTATTCAGAATATCTTGTTTCTCATGCAAAAATGTGCATTAACGCAGTGTGATGGAAACTCAGCTACTGTGAAAACCTCTTTCATTAATAAGAGTGTGTATGATTATATTAAAATCTTCAATGGATTCTCTTCAATGGATCACCTATTCAGTTCTGATTCTCATGGTTGACATATTTCTCCCGTTTTCCTGCA[G/A]TGCTGCCACCCGTGCTGGTTCCACGAAACAGCGAGTTCAACGCTAAACTCTCCATGCTGCCACGCTTCCGTAACCCACTCCACCAGACGGAGCCCCCCATGCCTCAGAACGCCACCTTCCCCGACTCCTTCCCCCAGCAGCCAGCAAATGCCCTTCCCTTTACCCCGAACTCCCCAACCAACAGTTATCCCAGCTCGCCCAACAGCGGCACAGGCAGCACTGCCACCTTTCCACATTCGCCATCCAGCTCAGATCCAGGCAGCCCTTTTCAGATGCCAGGTGAGATCGCTCTTAACCTGCACGTTAATGGTGCACTAGAAACATTTATGAATATTATTAATGCATTATTACTGTGAGGAGTTCACCTACAGTATGTTTATAGTTGAAATGTATGTTAGTTAAATCTCATACCGAGCTTATTCACACACTCTTGTACTGGATTTAGCAAATTAAGTTTAGCAAATTCATATTAGTTTGATTTTACTGTTCTGGCATTAAGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa32712

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000033566	Nonsense	259	472	4	7
ENSDART00000125043	Nonsense	259	473	4	7

Genomic Location (Zv9):

Chromosome 1 (position 35615927)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	35175785
GRCz11	1	35907812

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGACTGTCCCCAGCCAATGGACACTAACCTATTAGCTCCAAACTTGCCAT[T/A]GGAGATCAGCAACCGAACAGGTACCCTTCATTTAAATGCTAAAAGACACC

Long Flanking Sequence:

CGTTAATGGTGCACTAGAAACATTTATGAATATTATTAATGCATTATTACTGTGAGGAGTTCACCTACAGTATGTTTATAGTTGAAATGTATGTTAGTTAAATCTCATACCGAGCTTATTCACACACTCTTGTACTGGATTTAGCAAATTAAGTTTAGCAAATTCATATTAGTTTGATTTTACTGTTCTGGCATTAAGCTATGCAAAACTTCTACAGCTTTTAAGGGAAAGACTGTACATTTGACATGTATCTTTTTTCTGACTGACTCTTTTTTTCCACTTAAGTTAATGTTTAACCCTCAATATTTCTAATGTGGAAATACAAAAATGTTAGTCATTTGTCAGTACATGTCGTCATTCACCTTTCACTGTGTTGCTTGTGTTTTTGGGTGTTGCTTCTAAAGAAACCCCTCCACCTGCGTATATGCCTCCAGAGGAGCCAATGACACAGGACTGTCCCCAGCCAATGGACACTAACCTATTAGCTCCAAACTTGCCAT[T/A]GGAGATCAGCAACCGAACAGGTACCCTTCATTTAAATGCTAAAAGACACCATAAAATAAGACACTACTCTAAGCTCCAGTCACTCCAGCAAAGATATTGCTCCTTCCTTACAGTCTGACATGGGCGTTTTATAGCTATCAGCAGCTGCCGACCCACACTGCAGGTGCAGGAAGTCCACACACAAACATACTCGTGCACAGCGTCACAGACAGTCTGAGTTTTTGTCCTTTAAATGTGTATGGGGGTTCTTGCAGTACAGCATGTGGCATGCAAATGAGCAAAACAGTTAGAAATTGGTAAATAATGGGGTTCTTTAAAAACTGTGTTTTAGTTGGAAAAAGGGAGTCCATATACAGTTGAAGTCAGAATTATTAGCCCCCCTTTGTATTTTTTTTTCTTTTTTTAATTAATTCCCAAATGATGTTTAACAGAGCAAGGAAATTTTCACAGTATGTCTGACAATATATTTTTCTTTTGGAGAAAGTCTTATTTGTTTTATT

Associated Phenotype:

Not determined