ZMP
masp2
Ensembl ID:
ZFIN ID:
Description:
mannan-binding lectin serine protease 2 [Source:RefSeq peptide;Acc:NP_001116330]
Human Orthologue:
MASP2
Human Description:
mannan-binding lectin serine peptidase 2 [Source:HGNC Symbol;Acc:6902]
Mouse Orthologue:
Masp2
Mouse Description:
mannan-binding lectin serine peptidase 2 Gene [Source:MGI Symbol;Acc:MGI:1330832]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12267 | Nonsense | Available for shipment | Available now |
sa14721 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12267
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000035290 | Nonsense | 122 | 684 | 3 | 11 |
ENSDART00000132179 | Nonsense | 123 | 685 | 3 | 11 |
ENSDART00000142273 | Nonsense | 131 | 376 | 3 | 9 |
The following transcripts of ENSDARG00000007988 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 29015657)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 28846224 |
GRCz11 | 23 | 28772765 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCACCAGCAGCATGTCGGTAGTCTTCAGATCAGATTACTCCAATGAGGAC[C/T]GATTCACAGGCTTCCASGCRTTTTTCTCCGCTGAAGGYGATGGAAACAAT
Long Flanking Sequence:
GTTATAATGTAAAAACACTTAACTTAGTCTAATTTAAATCTGAATTAAAGCTTCATTTTAACTCATTATCATTAAAGACTAAAATATATATAATTTACGAAAAATACATAATTATTGCATAGTAAAAAAAGTGTCAAAACATACAATCAAAGCACGTGCAGTCTACACCCACACATCTTGCTAGTAAATCGTGACCTGCCATTGGCCCAGTGATATCAGCATACTGATGCTGAACATTTAATTAAGCCCCTCTATCATGAGATGAAATGCATAGTTCCTAATGATACTCTTGTGCATGGTAACTACGCTTGCTGTGTTATAATAGGATAAAATAATTACTACTTGCTCAAACTTTCCAGGTGTTCTCAGAAGGAAATGAGACCGTTCGCTTCTGTGGTGATACAGAGAAAAATTACGGCGATGCGCCCAAAAACACTGTCATCTATTCTGCCACCAGCAGCATGTCGGTAGTCTTCAGATCAGATTACTCCAATGAGGAC[C/T]GATTCACAGGCTTCCAGGCGTTTTTCTCCGCTGAAGGTGATGGAAACAATGGATTCATAGCATGACTGACCCTGTCTTTCTGTCTCACTAAATGATCCTCTCTCTTGTGGTGATCCCTTTTGCTGTAAAACGGTTAAATTGGTAGTTAGCAGAAAAAAATGTGCATTCTATAGATGGGGAAAAAAGTTAAACTGCTTGGAAATTCCATGTTTTTCATGATTTACAATTTTTATATACAGCTGAAGTCAGAATTATTAGCCCCTGTTTATTTTCCCCCCAATTTCTGTTTAACGGAGAGAATTTTTATAAAACACATTTCTTAAACATAATAGTTTTAATTACTCATTTCTAATAACTGATTTATTTTATCTTTGCCATGATAACAGTAAATAATATTTGACTAGATAATTTTCAAGACACTTCTATTCAGTTTAAAGTGACATTTAAAGGCTTAACTAGATTAATTAGGTTAACTATGCAAGATATGGAAATTAGGCAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14721
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000035290 | Essential Splice Site | 134 | 684 | None | 11 |
ENSDART00000132179 | Essential Splice Site | 135 | 685 | None | 11 |
ENSDART00000142273 | Essential Splice Site | 143 | 376 | None | 9 |
The following transcripts of ENSDARG00000007988 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 29015695)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 28846262 |
GRCz11 | 23 | 28772803 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCAATGAGGACYGATTCACAGGCTTCCASGCRTTTTTCTCCGCTGAAGG[T/C]GATGGAAACAATGGATTCATAGCATGACTGACCCWGTCTTTCTGTCTCAC
Long Flanking Sequence:
TCTGAATTAAAGCTTCATTTTAACTCATTATCATTAAAGACTAAAATATATATAATTTACGAAAAATACATAATTATTGCATAGTAAAAAAAGTGTCAAAACATACAATCAAAGCACGTGCAGTCTACACCCACACATCTTGCTAGTAAATCGTGACCTGCCATTGGCCCAGTGATATCAGCATACTGATGCTGAACATTTAATTAAGCCCCTCTATCATGAGATGAAATGCATAGTTCCTAATGATACTCTTGTGCATGGTAACTACGCTTGCTGTGTTATAATAGGATAAAATAATTACTACTTGCTCAAACTTTCCAGGTGTTCTCAGAAGGAAATGAGACCGTTCGCTTCTGTGGTGATACAGAGAAAAATTACGGCGATGCGCCCAAAAACACTGTCATCTATTCTGCCACCAGCAGCATGTCGGTAGTCTTCAGATCAGATTACTCCAATGAGGACCGATTCACAGGCTTCCAGGCGTTTTTCTCCGCTGAAGG[T/C]GATGGAAACAATGGATTCATAGCATGACTGACCCTGTCTTTCTGTCTCACTAAATGATCCTCTCTCTTGTGGTGATCCCTTTTGCTGTAAAACGGTTAAATTGGTAGTTAGCAGAAAAAAATGTGCATTCTATAGATGGGGAAAAAAGTTAAACTGCTTGGAAATTCCATGTTTTTCATGATTTACAATTTTTATATACAGCTGAAGTCAGAATTATTAGCCCCTGTTTATTTTCCCCCCAATTTCTGTTTAACGGAGAGAATTTTTATAAAACACATTTCTTAAACATAATAGTTTTAATTACTCATTTCTAATAACTGATTTATTTTATCTTTGCCATGATAACAGTAAATAATATTTGACTAGATAATTTTCAAGACACTTCTATTCAGTTTAAAGTGACATTTAAAGGCTTAACTAGATTAATTAGGTTAACTATGCAAGATATGGAAATTAGGCAAGTTATTGTATAATGATGGTTTGTTCTGTAGACTATCAAA
Associated Phenotype:
Not determined