Busch Lab

ZMP

ENSDARG00000091844

Ensembl ID:
ENSDARG00000091844
Human Orthologue:
ADAMTS13
Human Description:
ADAM metallopeptidase with thrombospondin type 1 motif, 13 [Source:HGNC Symbol;Acc:1366]
Mouse Orthologue:
Adamts13
Mouse Description:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 Gene

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa38214 Nonsense Mutation detected in F1 DNA Not yet available
sa32563 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa38214
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
ENSDART00000126385 Nonsense 300 692 6 6
Genomic Location (Zv9):
Chromosome Zv9_NA786 (position 21446)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150603.1 21446
GRCz11 KN150603.1 21446
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACAACAACAAGCAAACCACCATCCAAATCCAAAACAACCACCAAAGTG[C/T]GAACCACAACCACAGCACAAACCACCTTGTCAACAAGCACACCTCAGTTA
Long Flanking Sequence:
GTACGAATTCATACGAATTAGCCACTGAATCAAAAAGTTATGAATTGCCGTGAGATTGTGTTGGATACTCCCAAAATAATTCTGCATAAATCTGCAGATTTTTTTTACAAATTTCTTAGCAAAAAGAGCTAAAAATGGCCATGGTTACTATATAGTTAATTAAAGTAACGAATACCCTTAACTTTTCCGAATTCGATTATAATGCATTAATCTGCACCTTTTGTAAAGCTTTTTTAAAACAAATTATTTTGAAAAGTGCTATACAACCAAATTTGAATTGAATTCATAACAGCTTGATTGCAGTGTTGCTCTCCTGTTTTGCAGAGCTGCGCTGTCACGGTGATCGCTCTGCATTCTGCCGCATGGAGATTTTACAGCAGTACTGCTCTCTGCCCAGCTTCCAGCGCATGTGCTGCAAGTCCTGCAAACTTGCCAATTCCACAAACCCAACAACAACAACAAGCAAACCACCATCCAAATCCAAAACAACCACCAAAGTG[C/T]GAACCACAACCACAGCACAAACCACCTTGTCAACAAGCACACCTCAGTTACACACAACATCAGACGCAACAACAGCACCCATTTACCAAAACACAACAACTCCGTGGTATAAGCACACAATGGACACATCCACAGAAGATGATGAACATACAGCTAGGACTTATACAAGTGCTTCAGATGCTCATGAATACACAACAGCACCCATTTACCAAAATACCACAACTCCATATAACCACACAACGGAAACATCAACAGAAGATGAACATGCATCTAGTGTGGGCACACCTCGCATATATAAAAGTACATCAGATACTCAGGAATACACCATAGCACACATTTACCAAAACACTACATCTCCGTATTATAACCACTCAACGGAAACATCCACAGAAGATGACGAACATACATCTAAGACATATACAAGTACTTCAGATACTCCTGAATACACAACAGCACCCATTTTCCAATACACATCTCCTATCTATGACCACATAATGGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32563
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
ENSDART00000126385 Nonsense 306 692 6 6
Genomic Location (Zv9):
Chromosome Zv9_NA786 (position 21464)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150603.1 21464
GRCz11 KN150603.1 21464
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCATCCAAATCCAAAACAACCACCAAAGTGCGAACCACAACCACAGCA[C/T]AAACCACCTTGTCAACAAGCACACCTCAGTTACACACAACATCAGACGCA
Long Flanking Sequence:
TAGCCACTGAATCAAAAAGTTATGAATTGCCGTGAGATTGTGTTGGATACTCCCAAAATAATTCTGCATAAATCTGCAGATTTTTTTTACAAATTTCTTAGCAAAAAGAGCTAAAAATGGCCATGGTTACTATATAGTTAATTAAAGTAACGAATACCCTTAACTTTTCCGAATTCGATTATAATGCATTAATCTGCACCTTTTGTAAAGCTTTTTTAAAACAAATTATTTTGAAAAGTGCTATACAACCAAATTTGAATTGAATTCATAACAGCTTGATTGCAGTGTTGCTCTCCTGTTTTGCAGAGCTGCGCTGTCACGGTGATCGCTCTGCATTCTGCCGCATGGAGATTTTACAGCAGTACTGCTCTCTGCCCAGCTTCCAGCGCATGTGCTGCAAGTCCTGCAAACTTGCCAATTCCACAAACCCAACAACAACAACAAGCAAACCACCATCCAAATCCAAAACAACCACCAAAGTGCGAACCACAACCACAGCA[C/T]AAACCACCTTGTCAACAAGCACACCTCAGTTACACACAACATCAGACGCAACAACAGCACCCATTTACCAAAACACAACAACTCCGTGGTATAAGCACACAATGGACACATCCACAGAAGATGATGAACATACAGCTAGGACTTATACAAGTGCTTCAGATGCTCATGAATACACAACAGCACCCATTTACCAAAATACCACAACTCCATATAACCACACAACGGAAACATCAACAGAAGATGAACATGCATCTAGTGTGGGCACACCTCGCATATATAAAAGTACATCAGATACTCAGGAATACACCATAGCACACATTTACCAAAACACTACATCTCCGTATTATAACCACTCAACGGAAACATCCACAGAAGATGACGAACATACATCTAAGACATATACAAGTACTTCAGATACTCCTGAATACACAACAGCACCCATTTTCCAATACACATCTCCTATCTATGACCACATAATGGAAACATCCACTGAAGAAAAC
Associated Phenotype:
Not determined