ZMP

ADAM12

Ensembl ID:

ENSDARG00000079068

Description:

ADAM metallopeptidase domain 12 [Source:HGNC Symbol;Acc:190]

Human Orthologue:

ADAM12

Human Description:

ADAM metallopeptidase domain 12 [Source:HGNC Symbol;Acc:190]

Mouse Orthologue:

Adam12

Mouse Description:

a disintegrin and metallopeptidase domain 12 (meltrin alpha) Gene [Source:MGI Symbol;Acc:MGI:105378]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10558	Nonsense	Available for shipment	Available now
sa42965	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa10558

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
Order Allele From EZRC

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000108736	Nonsense	207	924	6	23

Genomic Location (Zv9):

Chromosome 17 (position 32442364)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	32284095
GRCz11	17	32236606

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACGGACACAACATATCGACTGTCAGCAACACGAACACAAGAGGACTGCTA[C/T]AATCATTCAGAACGAGGGTATGAACGCAATCTGTCAGCAGCGGTTATGAC

Long Flanking Sequence:

AGCCATGTGCTAAAGAGGCTACAAACATACTAGGAGCATTGTAAATACAGCTATTGCTAAAAATTCATGCTAACAGCACATTGTACTTTTAAAACACACCCTAATTTATGCTAAACCTATGCTAGGCAAAATGCTAGCACCATGTAAAAGGTTCAAACAACACAACGTTTAAATATGCTAAAGCAAAAAAGTAATGTTATTAACATTTTAAACACACAGTCATGTATAACATCACATTATATTGTTTCCTGTTAACATCTAATATATGTTTGCATATTTTTATTCAGTATTTTTTATTTATTTATTTATCAAATCTGTTTTCAATCAACAGAGGGTTCGTCTTACTTGAAAATAAAACACTGATGGTAGAGCCAGCTTTTGAGCCGGCAAACGACACCCATGTGATTTATGATGGACATCATCTACACTTCCCCTCCGGAACCTGTGGACACGGACACAACATATCGACTGTCAGCAACACGAACACAAGAGGACTGCTA[C/T]AATCATTCAGAACGAGGGTATGAACGCAATCTGTCAGCAGCGGTTATGACAGTGTTTTGTTCAGAGAGTGTCACTTTTTTTGTCTTGTGGATGAATTAACATGCATCATTCAGCAAGTGATGTCTTTGTTAATGCAGATGAGGAGATTGCGATTGCTCTGGCTTCGCATGCATGCTAAAACAAGATTAGAGAGCTGTGCGAGACATCAAAGGTTAACAGAACATCCCGACATTACAGTCTTGACATTGAAGTTGTTCTTATCACAACAGAGCTGTCTAAATAACATGTTCAGATGCCATTGTATTGATTTGAAAGGATAGAAGCAGACAGGAGATGCTGTTATATTTCAACATAAAGGCAAACCGATGAAATCTATGTATATAACAAAAGCGTAAGTGGTTAGGATTGGTATCAGTGCTGGTATTGATATTTGCAGGCACATCTTTAGGGATTATTGACTCTTTTATTGTCCATTTGATGAGAATAAATCAAAAAGGGGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42965

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 > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000108736	Essential Splice Site	676	924	17	23

Genomic Location (Zv9):

Chromosome 17 (position 32514588)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	32356319
GRCz11	17	32308830

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGTGTGTTTGGGGTGCACAAGTGCTCTGCCAAGTGCAATGGAAGAGGGG[T/A]AAGTTTTCTGAAATCTTCTGTAAAAAAAAAACATTTATTTAATCTCTGCA

Long Flanking Sequence:

GTCAGTCAACAGTGGCCTTTTGTGGATTTATGCAAGAATGGCACTAGCGAGAGAAATTTGAGATCTCAAAAAACATACACAGCAGCCTCTGGTGGACTCGCAAAAACAAAAACTGCAAAAAAATGTACCTCTTGGGATCCATTTGGCACTCTCCAGAAATGTATTTAGCAGTACATTCCAGAATGGGTTGCATATCCTGTTGTACGCAATAGAGCATAAAACTGTTAGCTTTTCCAATACATTTTCTATCACAAACAAATATAAAACTTACTATTAAGGTTAAATTGGCCACTCTGGCCCTTTAGAATCCATATCGGTCAACCACTATTCACTGTAAATGCTACATACAGTACACTATAGCACAAATGTCTCCTTACTTGTAACATGAAGTTCTCTGCCTGTCTCTGTCTCCTCATTACAGATGTGTCTGAACCGACAGTGTCAGAATGTCAGTGTGTTTGGGGTGCACAAGTGCTCTGCCAAGTGCAATGGAAGAGGGG[T/A]AAGTTTTCTGAAATCTTCTGTAAAAAAAAAACATTTATTTAATCTCTGCAGTTTTTCTGACATTAGCTATCATGCACTGGAATAAGATGCTGGTAATAAGTCCGCACAAATGAGTGTCCTCTGAAAGTCCTGCCCTCTGCAGTGTAGCTGTCTGCCAGGGGGACATCACTTAGCTAACTAGGTCCACATACTGTAACTTCACATGAACTAGATTACAGCTATGATTGAAATAGCCCCTGAAAGCACAGATAAACGTGGATTCTGCAATAAATTAGATCACAGCATAACCTTGTGTTGATAGCTTGATGCCTGCGACCATTGGAAGTGACACACTGCACTTTAAATCACATTCTGTGATCATTTATTCATCATGTTGCTTTTTTAACCCATGTTGACTTTCGTTTTTTTTTTTTTTTTTTTTTTTGGCATGAAACACAAAAGGAGATGTTTAGAAGAATGTTTCAACTGTTCTTTTTTTCTATATAGTACATCTTTAAGCT

Associated Phenotype:

Not determined