Busch Lab

ZMP

LOC100003570

Ensembl ID:
ENSDARG00000079463
Human Orthologue:
MAN2B2
Human Description:
mannosidase, alpha, class 2B, member 2 [Source:HGNC Symbol;Acc:29623]
Mouse Orthologue:
Man2b2
Mouse Description:
mannosidase 2, alpha B2 Gene [Source:MGI Symbol;Acc:MGI:1195262]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa26924 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa31563 Essential Splice Site Available for shipment Available now
sa34035 Nonsense Available for shipment Available now
sa17831 Nonsense Available for shipment Available now
sa31562 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa26924
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114203 Essential Splice Site 91 1006 2 19
Genomic Location (Zv9):
Chromosome 7 (position 20683903)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 19274339
GRCz11 7 19526307
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTCCGACTCTGGTGGACGAATGTGGCATCAGATTGGCACAAGAAACAG[G/A]TGAGAGGACGTAATAGATTTATAGTTATTGTTTACCACGGTGGTTTTCTA
Long Flanking Sequence:
AATATAATTTAAAGTTATTTAGAGAAACTCCCCGCGAACAGGGAAGTAAAAGGTGCGCATGCGCAGGCGATCACGCTCTCAGTCATGAGACTTTTGATACTCGCCGGTTGTGATGTTTTGATGGTTCTAAAGTGGCGAAGATGATTTTCCCTTTCTTCTTCGGTTTACTGCTCATGACAGTCTCTGAAAACGATGCAGCCGAGAAGATTCAAGCTTTCGTCATTCCACACAGTCACATGGATGTTGGCTGGGTGTACACAGTACAGGTAAACACACACAGATCTCTGAGGTATTGTTCTGTATGTGTGTTTCCTCGAGTAAAGCTGTCAGTGTTGTAAAACTTCTCTGTGCAGGAGAGCATGCACGCATACGCCAGCAATGTCTACAGCACTGTGGTAGAAGAGCTGACAAGAGTCAAAAACCGCAAATTCATCGCAGTTGAACAGGAGTTTTTCCGACTCTGGTGGACGAATGTGGCATCAGATTGGCACAAGAAACAG[G/A]TGAGAGGACGTAATAGATTTATAGTTATTGTTTACCACGGTGGTTTTCTAAAGCGACCCTTAGAGACCCCCAGGGGACCATTGAGGTTTTATATTCGCACCTTCAATCAGTGACAACTCGTGTCATGGTCTCTACATTGTTTACCACGCTACTTTGAATATTCGATCTGAAATTGAATGCAAGAATGACTGCAAAACAACATTTTGTATACATTAATTATTTGAATGAGAACAGTGTTGTACTTTGATAGACATTGGGTGCCAAAATGATTTCTTTATTTAGAACTGACTAACAATACTTTTCTGAAATTATGTTAAAAAAGAGAAAGTCTGAATGTGCTAATATAAAACCAATTTTACTTGAAGATCCATGAAAAAGTGGAAAAATAACATTTTAACTTGAATATTAATTATACACATTAATACGCAGTGCTGTTTTGAGTAGAAACAATAATGTAACAACAGAAATGAATGTTTTTGTGTTGTATTTTGTATTTCACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31563
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
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114203 Essential Splice Site 474 1006 9 19
Genomic Location (Zv9):
Chromosome 7 (position 20677720)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 19268156
GRCz11 7 19520124
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATGACATCTATGACCAAATCAAGAACACACCCACCACAGCCAGGACTGG[T/C]ATATGTCTTCATTGAGATTTTCTAAATCAGGGGTTTCTAACATGGTTTCT
Long Flanking Sequence:
TGGCACTCATTGACTTTCATTATATGGATATCAGAGCCCAACATTTGCAGCTAAAAACTCTTTAATTTTTTTACTGAAAAAAAAAATCACCTACATTTCAGATCGACTAACGGTGAGTAAATTAACTGGGAAGTTTCACTTTTGGCTGAACTATCCCTTTAATAAATGTAGTTGCTATGACTTTTGAGTATTTTGTTGATGCTTATTTGGCACTTAATTCCAAATAAAAAGTAACCCTGCTATGAGATCATTTGTTGGTTGTGTATTACAATACATTATTGACTAGTTCTGATAGGTGGGTCTGATTTTTACCAGGTTCAGCATCATGACGGCATCACAGGGACCGAATCTCCCAAAGTGGCTGATATGTACATGGAGCATCTCTTGCAAGGCATGATGGGAGCAGAGGAACTCTTGGCAGCCATTTTCCTGCTTCCGCAGACCCTATCCAATGACATCTATGACCAAATCAAGAACACACCCACCACAGCCAGGACTGG[T/C]ATATGTCTTCATTGAGATTTTCTAAATCAGGGGTTTCTAACATGGTTTCTAGACCTCCGGTGTGCTCAGTCCGTCTTTATCTTTTCCTGTTAATTGAACAGTAATATGTGTAATTGATTTAATTATTGTTTATAAAAATATATAAAATGTCTTACATTTTTAAATATAAAAATAATTCGGTAACACTTTACAATAGGGTTCATTAGTTAATGCATTTACTAGCATGAACTAATCATGAACAACACATATACAGCATTTATTAATAATAATTGAACATTTACTAATGCATTATTAACATCCAAGTCCATGCTTGTTAACATTAGTTAATGCACCATGAGTTAACATGAACTAACAATGAACTACTGTATTTTCATTAACTAACATGAACAAATACAGTAGTAAATGTATTGTTCATTGTTTGTTCATGTTAGTAAATGCATTAATTAACATTAACTAATGAAACTTATTGTAAAGTGTGACCAATAATTCATATTAAATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34035
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
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114203 Nonsense 588 1006 11 19
Genomic Location (Zv9):
Chromosome 7 (position 20676201)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 19266637
GRCz11 7 19518605
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTCAATAAAACAAATGTGAGACAGTGGAAGAAGACTGGTAGAAAGTTGT[T/A]ACCAGTTCTGAACGAGTGCTATAAACTGATGTTTGACCAAGAGACAAATC
Long Flanking Sequence:
TATAATGAGAAGAAAGTGTTTGTTCAAGTGTTTTAATATCTAATTCCAGCTTGGTTGTTGTTTCAGACTCAGAAAATGTTCCTGAACAGCATATCTTCGTGTACAACCCCCTTGCTTGGAATATTTCAACATATGTTAATGTTTCTGTTCAATATGCAATGGCAGTAGTGCTTGACGATGATGGAAAGGCAGTCCCTGCACAGGTAGCCAAAAATAAGTTCTTATCCATTCATTTTTTTTTAATATTCACATTTAATTGCATCTCTCAATCTCAAAACTCAATCATTTTCTGCAGATCCAGCCATCGATGGAGTCTTCCACTGTCTACGATCTGTTTTTCGTTGTTGAACTGGGTGGACTGCAGTACAGAAAGTACACTGTACAGTTCCCACAATCCCCCTGTGACACTGGCTCTGCCTGTGGGGCGACTCATGTGGCCAAAGTAGTGAAATTCAATAAAACAAATGTGAGACAGTGGAAGAAGACTGGTAGAAAGTTGT[T/A]ACCAGTTCTGAACGAGTGCTATAAACTGATGTTTGACCAAGAGACAAATCTTCTGCACAGCATCACAGACCGGCAAGTTCTACTTCAATATATTACCAGATTACTCAAATGTTTTGTTCAGTCGAACATTTCAGATTAAATTTTGGGCCTTGTCTGTGCGTTACAGGTCAAAAAAGATTAGAGTTCGCGTTCAGCAGGATTTTTGGGAGTATAAGGCCAATGGGGACGTCCAGTCAGGGCCGATTTCAGACAACTACATCTTTACTGCCAACGGCTCAGCTGTTCCTGCTTACAAATCTGTGGTTATGGAGATTGTGCCAGGAAAGGTCATCTCAGAGATTCGTCAGTATTTCTACAGGTAATTGGAATGATTAAGTCTGCTTTGATATCCTAAATCAGTCTATTGGTTGGTCTCTGCCGGTGCAGTGTTAAACGGTCTTCAGAGTATAGTGCTTTTTCATAGAACGCAAAATTACCCATCATGTTTTGCTTGCTCGGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17831
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114203 Nonsense 595 1006 11 19
Genomic Location (Zv9):
Chromosome 7 (position 20676179)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 19266615
GRCz11 7 19518583
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGTGGAAGAAGACTGGTAGAAAGTTGTTACCAGTTCTGAACGAGTGCTA[T/A]AAAMTRATGTTTGACCAAGAGACAAATCTTCTGCAYAGYATCACAGACCG
Long Flanking Sequence:
TTCAAGTGTTTTAATATCTAATTCCAGCTTGGTTGTTGTTTCAGACTCAGAAAATGTTCCTGAACAGCATATCTTCGTGTACAACCCCCTTGCTTGGAATATTTCAACATATGTTAATGTTTCTGTTCAATATGCAATGGCAGTAGTGCTTGACGATGATGGAAAGGCAGTCCCTGCACAGGTAGCCAAAAATAAGTTCTTATCCATTCATTTTTTTTTAATATTCACATTTAATTGCATCTCTCAATCTCAAAACTCAATCATTTTCTGCAGATCCAGCCATCGATGGAGTCTTCCACTGTCTACGATCTGTTTTTCGTTGTTGAACTGGGTGGACTGCAGTACAGAAAGTACACTGTACAGTTCCCACAATCCCCCTGTGACACTGGCTCTGCCTGTGGGGCGACTCATGTGGCCAAAGTAGTGAAATTCAATAAAACAAATGTGAGACAGTGGAAGAAGACTGGTAGAAAGTTGTTACCAGTTCTGAACGAGTGCTA[T/A]AAACTGATGTTTGACCAAGAGACAAATCTTCTGCACAGCATCACAGACCGGCAAGTTCTACTTCAATATATTACCAGATTACTCAAATGTTTTGTTCAGTCGAACATTTCAGATTAAATTTTGGGCCTTGTCTGTGCGTTACAGGTCAAAAAAGATTAGAGTTCGCGTTCAGCAGGATTTTTGGGAGTATAAGGCCAATGGGGACGTCCAGTCAGGGCCGATTTCAGACAACTACATCTTTACTGCCAACGGCTCAGCTGTTCCTGCTTACAAATCTGTGGTTATGGAGATTGTGCCAGGAAAGGTCATCTCAGAGATTCGTCAGTATTTCTACAGGTAATTGGAATGATTAAGTCTGCTTTGATATCCTAAATCAGTCTATTGGTTGGTCTCTGCCGGTGCAGTGTTAAACGGTCTTCAGAGTATAGTGCTTTTTCATAGAACGCAAAATTACCCATCATGTTTTGCTTGCTCGGAACTTCAGGTTGACAGTTCGATGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31562
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
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114203 Nonsense 1000 1006 19 19
Genomic Location (Zv9):
Chromosome 7 (position 20667663)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 19258099
GRCz11 7 19510067
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAGTGGTGTTACCCAAGACTTCAATGTGACCATTTCCCCAAAAGAAATC[A/T]GAACCTTCTTCATCTACTTTTAGTAAACAGTCTGGCAGCAGCCAGTAGTT
Long Flanking Sequence:
CATTGATGTATACTCTGATTCCCGCATGACTTCCTCTGTTCGAAACAAATACAGTCAACACCATCATGAACACTGACAGACAGATGGAGAAACTGTTAATTAAAATAGATATTTGGGTTTATGTGCACACAAAAGTATTCCCCTAGCTTGATAATATTCCAGTTAAACAATATAATCTGCTTTGAAAATACCTTTCTGGACTTTGAACAAGTCACAAACCTTGGATGGAGAGTGAGGGAGTTCTCAGATTTCATCAATAACTTAATTTGCATATTATGAACTCATCTTAAGTTTATAAAGTTGAGCAGTTAATAACATCATTTTCAATTCTGGGTGAACTAACCCTTTAAGATCAAACATTTTGATGATAAATCTGGTAAGAAATTTCTGGTAAAGAAAGAAAAAGTGTCATTGTGTTTGTTTTTGCTCTTTTTACAGATAAAAGTGGTTTTAGTGGTGTTACCCAAGACTTCAATGTGACCATTTCCCCAAAAGAAATC[A/T]GAACCTTCTTCATCTACTTTTAGTAAACAGTCTGGCAGCAGCCAGTAGTTATCTTCTGTGAAGATTAATTTCTGAAAAAAAATCCAGAATTGTCCCAAAATTGATCACCTAAGCATCTATTCTTAACATTTTACAAAACTCTCCTGTAAACATTTAAATAAAATATAAAAAAAATAAATATTTACTCATTTTCTTTCTTTTGTACATTGCTAAAAACTGTGTTTGTTTCTGTCAATTTTATTTGGTTTGATCTTCAGGCAAATAACATGTTTTAAGATTGCAAATAATGAAGAACTGGATATAACAAAAGTTCAGTACAGGAAATTGACATGCCACAAGCCTCAAGCATCATAGTTTCTGAAAAGGAGTTAAGAGGGAATGTTCAGCCAGCTAGCTTGAAGCCAGTGGTGCTGTCGGTAAGAACTGTCTAGTACAGACTAGTCACTCTATTTAGCTGCATTTATTAACCTTCAACAAGGATTTGTGCTCAGGAGGAAAGG
Associated Phenotype:
Not determined