mmp17b

Ensembl ID:
ENSDARG00000075547
ZFIN ID:
ZDB-GENE-081107-17
Human Orthologue:
MMP17
Human Description:
matrix metallopeptidase 17 (membrane-inserted) [Source:HGNC Symbol;Acc:7163]
Mouse Orthologue:
Mmp17
Mouse Description:
matrix metallopeptidase 17 Gene [Source:MGI Symbol;Acc:MGI:1346076]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa42456 Nonsense Mutation detected in F1 DNA During 2016
sa2748 Nonsense F2 line generated During 2016
sa2760 Nonsense F2 line generated During 2016

Mutation Details

Allele Name:
sa42456
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 2016.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108791 Nonsense 64 613 2 11
ENSDART00000144588 Nonsense 64 482 3 11
Genomic Location (Zv9):
Chromosome 14 (position 52573079)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 49836670
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATAGTTTTGGTGTGTTCTGTTTCACAGGATTGGCTCACAAAATATGGATA[T/G]CTCCCGCCTCCTGACCCCTCAACGGGTCAGTTACAGGCCTGGACAGCTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2748
Current Status:
F2 line generated
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 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108791 Nonsense 546 613 11 11
ENSDART00000144588 Nonsense 452 482 11 11
Genomic Location (Zv9):
Chromosome 14 (position 52554638)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 49855111
KASP Assay ID:
554-2843.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTCGTCTTTCAGCCTCTGATTGGCTGGATTGCCCTCAGGRCTCCTCCTA[C/A]AGTTCCGCCGACATCTCTCTCATCTCGCAGTTTGGCCAAYAGGAGCTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2760
Current Status:
F2 line generated
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108791 Nonsense 560 613 11 11
ENSDART00000144588 Nonsense 466 482 11 11
Genomic Location (Zv9):
Chromosome 14 (position 52554598)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 49855151
KASP Assay ID:
554-3042.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
RCTCCTCCTAMAGTTCCGCCGACATCTCTCTCATCTCGCAGTTTGGCCAA[C/T]AGGAGCTGCACGAACAGAAAAAGCAAACAATCATCAACCAGATCAGACAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Migraine: Genome-wide association analysis identifies susceptibility loci for migraine without aura. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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