Busch Lab

ZMP

nsd1b

Ensembl ID:
ENSDARG00000060705
ZFIN ID:
ZDB-GENE-080519-2
Description:
Nuclear receptor binding SET domain protein 1b [Source:UniProtKB/TrEMBL;Acc:A5XBP9]
Human Orthologues:
EZH1, EZH2, SETD2, WHSC1, WHSC1L1
Human Descriptions:
SET domain containing 2 [Source:HGNC Symbol;Acc:18420]
Wolf-Hirschhorn syndrome candidate 1 [Source:HGNC Symbol;Acc:12766]
Wolf-Hirschhorn syndrome candidate 1-like 1 [Source:HGNC Symbol;Acc:12767]
enhancer of zeste homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:3526]
enhancer of zeste homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:3527]
Mouse Orthologues:
Ezh1, Ezh2, Setd2, Whsc1, Whsc1l1
Mouse Descriptions:
SET domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1918177]
Wolf-Hirschhorn syndrome candidate 1 (human) Gene [Source:MGI Symbol;Acc:MGI:1276574]
Wolf-Hirschhorn syndrome candidate 1-like 1 (human) Gene [Source:MGI Symbol;Acc:MGI:2142581]
enhancer of zeste homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1097695]
enhancer of zeste homolog 2 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:107940]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa43693 Nonsense Mutation detected in F1 DNA Not yet available
sa43694 Nonsense Mutation detected in F1 DNA Not yet available
sa30724 Nonsense Mutation detected in F1 DNA Not yet available
sa24006 Nonsense Available for shipment Available now
sa37358 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa43693
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
ENSDART00000131188 Nonsense 424 1873 4 22
ENSDART00000137883 None None 117 None 3
ENSDART00000143621 Nonsense 317 1717 4 20

The following transcripts of ENSDARG00000060705 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 36684145)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37673494
GRCz11 21 37358681
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGAATTAAATCTGTGAATTGTTCTTTTGGAAAGGTATCTTGTAAAATT[A/T]AGATGCCAGATTCTGCAAGCATGAAACCCAAGGACAATCACAACACCGGA
Long Flanking Sequence:
TCAAAACAATCTCAGAAGAAACTATAAATAACACTGAAATCAAAGTGTCTGTACCAGTGGATTTACCCAACAGCAGTTTCCTTATCAATGGAGCAGTTATACAAAACAACCACCTGAACAGCTTACCACATAATCGCAAGTCTAAAAACAAAAAGAAACCAACTATATCACACTGCAGAATATCTGAGGAACTTAATTGTGAGAAGGGTATGATTATGGATGCCCTGGACAGTCCATACTCTGACATTGATTCTGTGCCACAGATCCGCAGATTTCCCAAAAGCAACGAGCAGATATCCAATCACTACGTTATTAATTATAAACAATCAAGCGCAACCCCAACTGTGCTTCCCAGTACAAATGACAAAGACGTAAAGAAGAATGTGGAGAACCAAGGTGGCCTTTGGTTCAGCAAAACTGGTAAAGGTCAAGTTAATGGTATTAGTCGTGCTGGAATTAAATCTGTGAATTGTTCTTTTGGAAAGGTATCTTGTAAAATT[A/T]AGATGCCAGATTCTGCAAGCATGAAACCCAAGGACAATCACAACACCGGACTTGAACATCTGTCTACCGAAGCCAAGAAAGCTTTAGATAGGAGAGTGAAGTGCCTTCCAGCAAGTAGTCGCCTTATGACAAGAGCACTGAAGGCAATGGAGGATGCAGAGTGGACGAAGGAGTCAAGCTCAGATCTTGAAACAAAAAATTGTGTATCTTCTTTTGATTCTCCGTCACTTGAAACATCTGATGTACACAACAGCATCCTTTTACAGAAGATGCCAACTGCTGCAATCCATGATCTGAAAGAAGACTCCAAAATTAGCACACACGCAAAGCTGTCTTCAGAACTTTTATGTTGTAAAGATGATGAGCATTCAGTCAAATCTGAAGATGAATCTTCTTTAGTATCTCAAGCACCTTGTGCCTTTCATTCATCCACAAGAAAACAAAACAGTCACGTTAATGATTTATCCTCCAGTCCTACTCCATCTTTGCACTTAAATCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43694
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
ENSDART00000131188 Nonsense 542 1873 4 22
ENSDART00000137883 None None 117 None 3
ENSDART00000143621 Nonsense 435 1717 4 20

The following transcripts of ENSDARG00000060705 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 36684499)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37673848
GRCz11 21 37359035
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTCCAAAATTAGCACACACGCAAAGCTGTCTTCAGAACTTTTATGTTGT[A/T]AAGATGATGAGCATTCAGTCAAATCTGAAGATGAATCTTCTTTAGTATCT
Long Flanking Sequence:
GTACAAATGACAAAGACGTAAAGAAGAATGTGGAGAACCAAGGTGGCCTTTGGTTCAGCAAAACTGGTAAAGGTCAAGTTAATGGTATTAGTCGTGCTGGAATTAAATCTGTGAATTGTTCTTTTGGAAAGGTATCTTGTAAAATTAAGATGCCAGATTCTGCAAGCATGAAACCCAAGGACAATCACAACACCGGACTTGAACATCTGTCTACCGAAGCCAAGAAAGCTTTAGATAGGAGAGTGAAGTGCCTTCCAGCAAGTAGTCGCCTTATGACAAGAGCACTGAAGGCAATGGAGGATGCAGAGTGGACGAAGGAGTCAAGCTCAGATCTTGAAACAAAAAATTGTGTATCTTCTTTTGATTCTCCGTCACTTGAAACATCTGATGTACACAACAGCATCCTTTTACAGAAGATGCCAACTGCTGCAATCCATGATCTGAAAGAAGACTCCAAAATTAGCACACACGCAAAGCTGTCTTCAGAACTTTTATGTTGT[A/T]AAGATGATGAGCATTCAGTCAAATCTGAAGATGAATCTTCTTTAGTATCTCAAGCACCTTGTGCCTTTCATTCATCCACAAGAAAACAAAACAGTCACGTTAATGATTTATCCTCCAGTCCTACTCCATCTTTGCACTTAAATCTAAAAGATATGGACAACATGAACGAAATATCCTTCAAGTCACTAGCAAATGAACACAGTGGCCAGCCTTTGTCATTTCATCCTGATTCAAACTATAAGTTCAGCACATTCCTGATGATGCTCAAGGATATGCACGATAGCCGCGAAAAAGATGGAAATGTTTTAGTAGTAGAGCCATTACCCACAACTGAACTTATCAATGAGGAGCCGTTGCTGATTTCAGATGTGAAGGATGAGAAAGCAACATCCAAGCAGAAGAAGGTTAAACCGAAGACCAACGTCATGTCAGAAAATCACCTAGCCTCTACTATTTCGAAAACCGCTCAAAGATCTAGCAAAAAAATAAGTTTGAAAAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30724
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
ENSDART00000131188 Nonsense 958 1873 7 22
ENSDART00000137883 None None 117 None 3
ENSDART00000143621 None None 1717 None 20

The following transcripts of ENSDARG00000060705 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 36689513)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37678862
GRCz11 21 37364049
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTTAATAATTTTTTAATAGGTGACAGTGTGTGTCTAAACTCAAAGAGA[C/T]AGCGCAAACCCACAAAAAAGATTTTAGAAAGCTCCATTGAAGCAGAACCA
Long Flanking Sequence:
TTGCTGTGAGGTGACAGCACTTCCTACTGCGCTACTGCGTCACCTAGCCTATTCATATTAACCTTTTTTCTTTATTCATTTATCTACAGAATTGTGAAAAAATCGTGATCTTGATTTTAAGTGAAGAAAATCGTGATTTTCATTTTAGCCAGAATCATGCAGCCCTACTTACCAATACACTTTACTACTCAAAAATTTAATTTGGATATATTTACAGTAGGACATTTACCAAATATAACCATGGAACATGATCTTTACTTAATATTATAATGTTTGTTGGGAGGCACTTTGACTTTGAGGCTTATGCAACAAAGTGGTTCAGGGTCCCATATGCAGTGGCCTATAATTTGAAGACCTATTGCTAAGTACCACATTTTTTATTTTTTTTTATATTTCATGATCATATTCAAGACTCTTAGTATCGGGGAAATAACAGTCGAAAGTGATTGATTTTTAATAATTTTTTAATAGGTGACAGTGTGTGTCTAAACTCAAAGAGA[C/T]AGCGCAAACCCACAAAAAAGATTTTAGAAAGCTCCATTGAAGCAGAACCAATTCTCATTCCTAAAAGAAAGGTATTTGTTTAAATTATAACTTCACTTTGGTGGAAAACTAGATAAAGAATATTTGTTGCCAGAAAAATATATATTTATTTTAATTCACATTTGACCTAAAGGATTTTAGCACAAAGCAATATTGGGATAACTGCATTATCATTCACAGATGAAGTCGATGAAGATTTGCTCATCAGGACATTCTACAAATTCAGGTTTGGCAATTGAGAGCTTTCAAAACTATATTTTTCTTTTCAATAAAATCCAGTTAAAATACAGAATGTTAATTTTTACGGACAATGCATGGTTGCTTTAAAAGTTATTCTTGGATATCACAGCCACTAACATGACATGTTAAGAGTTATGTCTGATTCTTAATAACATATTTTATACTATGCAATGGTTTTATTTAGCACAAAAGTCGTGCTGGGTAGTAACTGGTTACATGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24006
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
ENSDART00000131188 Nonsense 1168 1873 12 22
ENSDART00000137883 None None 117 None 3
ENSDART00000143621 Nonsense 1012 1717 10 20

The following transcripts of ENSDARG00000060705 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 36700687)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37690036
GRCz11 21 37375223
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGGTGAAGACGTCAGGCGCTGTATGGTTCCCGGATGTGGAAAGTTCTA[T/A]CATGGGGAGTGTGCTGCCAGCCATGCACCTACAGTACCTCTGAACCGAGC
Long Flanking Sequence:
GTCCCTGTAATTCATTCAGGATATGTAGTAGGGCTTCCCTTTAATGCCCCTAAAACATGGATTGGTGTAAAAATGTGCTATGCGTTGACTCTTAATTGACTAAATATCTCGTCAATGGCAGGAAAAGTGTTAAATGTTTACATTCACTGAATTCATTTGTTGACAGTCTTGTTATTTTAAGAAATAGCCCAATGACCTCTTGTTTCTAAAGATGTGTGAGAAGCAGGGAGATCTTCTCCTGTGTGAAGGTCAATGCTGTGGAGCGTTTCACCCACAATGCACTGGCCTAAATGAGCCTCCCACAGGGAAGTTTTTGTGTCAGGAGTGCACGTCTGGTGAGTGCCTGCATCATAATTTACAAACCAACATCCTTGGAGTAATTTCATATCTTTGACAGCTGTTTTTGTGAATGTTGTACTAGGTGTACACTCATGCTTCGCTTGTAAGCGTCTGGGTGAAGACGTCAGGCGCTGTATGGTTCCCGGATGTGGAAAGTTCTA[T/A]CATGGGGAGTGTGCTGCCAGCCATGCACCTACAGTACCTCTGAACCGAGCCTTTCGTTGCCCTCTTCATGCCTGCCTGTCATGTTTTATCCTAAACCCTGCCAATCCATCTGTAGCTAAAGGTTGGTTTTGCTTACATTTACATTTTTCCTGAGGTCATTTACACTTTATGGCTATCTAATAATGCATATCTTGCTAGTGCAAGCTACCTTTGCCTTCAGAAAACTCATAATTCTTGTTAAACATAGATTAAATAAGGCCCTGAAATTATTCTTCAAAGGTTTTGGCCTGTTTTGACATGAAACTTACTCTAGATTTGCTTCACATCCCTGAAGGTGTGATGGCTGTAGAGGTCATTTAAGAACAGTAAACTCAGTGTTCAAGAGTTGAGTTGAGCCTTGTGACGTGGTGCGTTATTTTTTGGAGAGGAAGTAACCACATGAGTACACTCAGTTTCTCTATCCCATGTTCTAAAATGATACCTCAGAGCAGATAGAAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37358
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000131188 Nonsense 1709 1873 22 22
ENSDART00000137883 None None 117 None 3
ENSDART00000143621 Nonsense 1553 1717 20 20

The following transcripts of ENSDARG00000060705 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 36723103)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37712452
GRCz11 21 37397639
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTATCAATGAATAACGTGTCTTGTATTTCAGGACGTTGGGAGTGTCCTTG[G/A]CATCAGTGTGACTTGTGTGGACAGGAAGCTGCTTCCTTCTGTGAGATGTG
Long Flanking Sequence:
TTCAAGATTTTAAAAACGAAAGTCTTTCTAGAAACACAGTTGGACGATGAATTAAAATAACAAATTAAAATAATTCCATAACACACACACACACACACATATATATATATATATATATATATATATATATATATATATATATATATATGTATATGTATATATGTGCGTGTCTGTGTAATGTATGTAATATATGTCCCGGGACAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCATCTGGCCCTAGGCCCAAAAAGTTTGGACACCCCTGGTCTAAGCAAACCTGGTCTAAAGTTGCCATTTTCTTTATACTTCAGATTAAATACACCAGTAGTACCAAACTAGAAGTGCGAAACCCTTCAGAATCCAGAATACATCACTATCACATTACTAACCAACGTTCACTGAATCAGTGTATCCGCTTTATGACAGGAAAGATTATCAATGAATAACGTGTCTTGTATTTCAGGACGTTGGGAGTGTCCTTG[G/A]CATCAGTGTGACTTGTGTGGACAGGAAGCTGCTTCCTTCTGTGAGATGTGCCCTAGCTCCTATTGTGTCGAACATCGAGACGGCATGCTTTTCATATCCAAACTGGATGGGCGACTATCATGCAGTGAGCACGACCCCTGCGGCCCAGAGCCCCTGGAGCCTGGCGAGATTCGGGAATACCCTGGAGAACTAAGGCCAACCTACCCTATAAACATCATCAAATCTGCCAAAAACAAATCCCACATCCTAAACACCCCTAAGGCTGTCCCGCAGGCTCCCTCTCCCCTTGATGTAGCCCCTCAGGTCTCCCCCAGCCCCTCTTGTAGCCCTCCACCCCTCACAATCTTTTTAAATGGTCCATATTCCCCCAATTCATCGTATGAAGAAAAAAAAGAAGAGGAAGAAAGTGTGACGCTATTAGAAAAGGATGGGGAGAAGAGCGTACCTCGAGATAAATCAGAACGACTAAGGATAAAGAAAAAAACCGAAGTATGAAGGTT
Associated Phenotype:
Not determined