Busch Lab

ZMP

masp2

Ensembl ID:
ENSDARG00000007988
ZFIN ID:
ZDB-GENE-060130-154
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
sa29952 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa6742 Nonsense Mutation detected in F1 DNA Not yet available

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.
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
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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

Mutation Details

Allele Name:
sa29952
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035290 Essential Splice Site 178 684 4 11
ENSDART00000132179 Essential Splice Site 179 685 4 11
ENSDART00000142273 Essential Splice Site 187 376 4 9

The following transcripts of ENSDARG00000007988 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 29018281)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 28848848
GRCz11 23 28775389
KASP Assay ID:
2261-7928.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGTGCAGATTGGGATACCAACTCCATGCTGATAAAAGACATTGCCCTGG[T/C]AAGGCTGATACTGGAACAGCTCTAACCGCAGGCCTGTAGTATTGCTGCTT
Long Flanking Sequence:
AGCTATAGAAATTAAAAATGTAAAACAGGAAACATGTTGGGTCCATTGTTTTTGTTTACATCGCTAAAAATGGTCTGTAGGTGAATTGAAAAGAAAAGAAATATTTTATTATATTTTTTTTCCATAAGGGGTGGTCGAAAGTAACTATGCATTAAAAATTGGTTAAAGCATATCTAATTTTGTATTCCTAATGTGAAATATCAAATCTTTTATTTACTACTTTTATCTTGTTTTCATCATATTTCCAGTGATGATACAAGTTATTGGCTGTATATTTATATACACACAAATAAATTGTGCTCTCAGTGGATGCCCAGATCTATATAAGAGAAAAGTGTTGCTAACAGCCTCTTTTTGCTCTTTCCAGACATTGATGAGTGCCTAAGCAGTGTTGATGGGGAGCCTGTGTGTGACCATAATTGCCACAATTATGTGGGGGGTTTTTACTGCACGTGCAGATTGGGATACCAACTCCATGCTGATAAAAGACATTGCCCTGG[T/C]AAGGCTGATACTGGAACAGCTCTAACCGCAGGCCTGTAGTATTGCTGCTTATTGATTATGACTTGTATGGGAAAGTATATAAAATGTTGTGTCCATTCATTTTCATAAAAGCTAGTTATAACAAGTGCACCATCAATGCCAAGTAATGGGTTAAAAGAACTGTCATCTATTCAAGTAAAGCATATTTTGTGTGATTAAACCACAAATCAATATTTTAAAAAATTTAACCAAATTTAATTTGATTAGTTTTTTTTTTGTCAAATAACTTATTTAAATATTTCAGCCGATTCGAATGTTTCAGCCGATTCGAATTATTAGTGGTTATCAGCTGATAGATATGGGCCAGTAGGGACCTTCTGCGCCTACTGGTAGGCTCAGATGGGTTGTTATCATTCATCCACATGGTTAATCAGCAGTAGATCACATAAGGCTGCAGTCGTAAGTTAATGAGTGTTATTTATATTGTTTATTAAATTTCCCATTAATTGTATTTTATTAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6742
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035290 Nonsense 479 684 11 11
ENSDART00000132179 Nonsense 480 685 11 11
ENSDART00000142273 None None 376 None 9

The following transcripts of ENSDARG00000007988 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 29038232)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 28868799
GRCz11 23 28795340
KASP Assay ID:
554-5391.1 (used for ordering genotyping assays)
KASP Sequence:
GTGCCTCTCTGCTGTCGGACGGCTGGRTTCTCACCGCTGCTCATGTCGTG[A/T]AATCCTTYGAGGACTCTGCCAATCTGCAGCTGAGGATGGGCACAGTCAAA
Long Flanking Sequence:
TGTGTTTTGTTTTGATTAGCCTGGCATTTTACACTTGCTCATGAAACAATGGTGTTTGAGGCTTACAGTATATCATTTCCATGTAATGAACTCTTATTATTCAGCTATGCCCATGTAGATACAGATTTACATTCTATATTTAAACTCTAAATCAACTGGAGGTCATTAAGTCAAAAAAGATTGAGAAAAACTGTTTGTGTCCTTTATTCAAAAATGTGAAAACAATAATATAGAAATGAGCAAGTGTGTCCAAACAATACAATTTTTTTGATGAATGATTAAACTGAAGTTTGCTCAAAAACATTTGTGTTGACACTAATCTGGTGCCATCTCTGACAGTTTGTGGGCAGCCTGAGCTAAAGCTGTCCAAGGTGATAGGTGGGGAGAACGCAGAGAAGAACGAGATTCCCTGGCAGGTCATGATACGAATGGGAACCAAGTTCATAGGTGGTGCCTCTCTGCTGTCGGACGGCTGGGTTCTCACCGCTGCTCATGTCGTG[A/T]AATCCTTCGAGGACTCTGCCAATCTGCAGCTGAGGATGGGCACAGTCAAACATCACGACAACGAGGCAGTAGTTGGCATTCCACAGAAAATCTTCATTCACCCTCAGTACCATCACGATAATGTCAACTTCAACCATGACATAGCACTGATTAAACTGGAGTACAAGGTACCTGTCAGTAAAGCCGTCATGCCTGTGTGTTTGCCCGGGAGGGAAGAGCGGTTTGTTTTGAAGGCTAATGATGTGGGGAAGGTGTCTGGATGGGGAGTGTCAAATATAAACACACCTGCATTATTTTCTGGGAATCTGAAGTATGTACATTTACCTGTCTCCAACTTTAACGACTGTAAAACCAAATATGACTCTACAGTAACTAGTAAAGGGAAACTAGTGGTGACGGAGAATATGATTTGTGCTGGGTTTTCCCAGGGGGGGAAAGATTCCTGCCAGGGGGACAGTGGAGGGCCCTTTGCGTTTTTTGACAAACAGAGTAAAAGCTGG
Associated Phenotype:
Not determined