Busch Lab

ZMP

DYNC2H1 (2 of 2)

Ensembl ID:
ENSDARG00000086671
Description:
dynein, cytoplasmic 2, heavy chain 1 [Source:HGNC Symbol;Acc:2962]
Human Orthologue:
DYNC2H1
Human Description:
dynein, cytoplasmic 2, heavy chain 1 [Source:HGNC Symbol;Acc:2962]
Mouse Orthologue:
Dync2h1
Mouse Description:
dynein cytoplasmic 2 heavy chain 1 Gene [Source:MGI Symbol;Acc:MGI:107736]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa36001 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa42628 Nonsense Mutation detected in F1 DNA Not yet available
sa36000 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa36001
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
ENSDART00000125822 Essential Splice Site 678 1076 12 18
Genomic Location (Zv9):
Chromosome 15 (position 44041486)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 45022924
GRCz11 15 45153634
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGGCTCAATGATTATTTCCACAGAGCTCTGGAGTGGGTTCTCAAACAG[G/A]TGCATTCCTAAAGTCCATATGAACCGGAAGTTGCTGAGACTTTTATTTCA
Long Flanking Sequence:
ATTGGTGGGTGGCGTTTTTTTGGGTGTGGCTTAACGAAGGGTCATTTTAGCTAACCCAATTCCCCATAAAGCGCATGTGCTTGGACTGTGGGAGAAACCGGAGCACTAGAAGAAAACCCACACTGACCACACACACCACACAGAAATGCCAACTGACCCAGCCGAGGCTCGAACCAGCGACCTTCTTGCTGTGAGGCGATCATGCTCATCGCCATCGTGACGCCCCAGTTAAATTATTGTAAAAAATAAATAAATACACACACTTTGTAGCTTTACATTTTCATTTATTTACACTGTTCAATTGTGTTTTATTATTATAATGCTGAATTTTCACCTGGTGTGTGTGTGTGCGCGCGTGTGTGTGTTACAGCGATGAAGACACTGATGTTGGCTCTCTGGTGAAGTCGTGGCTGAAGCGTGAGGATGAAGACTGCAGGATGAATCTGGAGAACTGGCTCAATGATTATTTCCACAGAGCTCTGGAGTGGGTTCTCAAACAG[G/A]TGCATTCCTAAAGTCCATATGAACCGGAAGTTGCTGAGACTTTTATTTCAGTTTGATGATGGACTTTTATCTGAATCGGAATATTGAGTAGGGGGCGGGGCTCTCTATTGCGCATCATTCCCTAGTACTCAACTAAGACCCCGTTTACACTGCCAGTTAAATGTGACCCAGTTCCGATTTTTTGCTCATAAGTGACACAGATCGGATCTGTTCTATGAGAGTGTAAACACGGAAAAAACGCAAGCGTTCGGATATTCAGAGATGGGTTTGAGGCCTCCTTCATATGTGGAAATAAATCAGATATAGATCGGATATGTGACAATGCGACTGTCATGTGAACGGGCAGATCAGATGTATTGAGGCATTTCGTTCTGTACATCATTAAACTTGCGACAATGTGCTGCTTCTCCGCGGTTTAATGACAGAAAGAAGAGCGGGTGTGGAGATGCCAACGCGGTAAACAACATCAGAGGAAACACAGAGGAGGAAAGTGGTCAGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42628
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125822 Nonsense 951 1076 17 18
Genomic Location (Zv9):
Chromosome 15 (position 44029333)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 45010771
GRCz11 15 45141481
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGACACACACACTCACACACACATACTTATCTATATCTCTGCATTAGTTA[T/A]CCAGACAGAGAGCAGCTGCAGACAGTCTATAGTGCGTACCTGAAACCTGT
Long Flanking Sequence:
TGTCACGTGTGATTTCCCGGCCGCCAATACATTATATGAAGACAAAAATGACATTTTTAGGTGAATTATACCTTATAAATACAATATGTGACTCTTTCAACATCATTTGGAGGTGTCCATGTTGCTGAGCAATGTGTGTGAAACAATGAAAAGACTCGTGCAGCCGCCTTTGCTTCTGTCCTGAACTTGAAAATATGATTGACAGAATCATAGAAATGCTGGATTAAGATCATCTAGGGGTTCGAATCGAGATTGCGATTATTAATTTATTTTTTAAATTAATTTTGCAGCTGTAACCGCCATGTTTGATTTTTCCAATATTGTGCAGCCCTAACATCAATATAAAGCTTATTTATTCATCTTTCACATGATGTACAAATCTTAATTAATAAAACCGTATAAAAGAAAGTGTCTGGTGCATACAGAGAGGAAAATAGTCTGTCTCTTACAGGACACACACACTCACACACACATACTTATCTATATCTCTGCATTAGTTA[T/A]CCAGACAGAGAGCAGCTGCAGACAGTCTATAGTGCGTACCTGAAACCTGTGCTGCAGAGGACTCTGGGTAATGATCCCACATGGAGCTCTTCAGGGAAGATCCACCAGCTTGCCGGCTCATTGGTGCAGGTCTACGAGCAGGTCAGATCTGATTGGATAATTCAAAGTATTGATGTCATTATGTCTGCTTTATACATTTATTCAGTATTATTTAAACGTTTATAAGAACATATCTTATTTGGTCATGTCTCTTTGGTTCCCAATTAAATCATTCAGTTTCTTCTCATCTACATTTCTCCAATATGAAGACATATTATAGGATTGTTGTCTTACGGAAAGGGTCAGTACTTCTATATCATACACCTCTTTTACAATATCATTATGGCTTGTTTCCTCTGAGTGGTATGGTACGGTATGCGTCACCTTTATCAGGCTTGCGTTTCCACTGCCAAAAGGGTACCAATGGTGGGCGCAGTGTACAACAAAGTTTCAGTCAATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36000
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125822 Nonsense 1028 1076 18 18
Genomic Location (Zv9):
Chromosome 15 (position 44027337)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 45008775
GRCz11 15 45139485
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTTCACTCCATGTTTACTCACAGAGTGGGTCCTGAATCTGCTGCGGTA[C/A]GACCTGAGCGCAGGTGAGCTCAACACACTCAATAATTCACTAACATCTCC
Long Flanking Sequence:
TCTCTGCTGTTCTGACGTCAGCTGTAGATGTGAATGAATGAAAGTAGTTTCTCATACAAAAGAGTTTTTGAGACTTTCCGTGTTTGATTTAATTTTTTGTATACACGATTATGCCGTCGAACTGTTGTATAAACGCAATATCACACGAGTAGCAGTGCGATATGGCTGTATATCAGCACTGCTGGTGCACTAAGGCACTCGGCCTGCAGCCTCAAACCAATGTACACCTCCACCAGTGTCGATATACAGCCATATCGCACTGCTACTCATGTGATATTGCTCATATATATAATTTCAAAATATATTTTTGAAGAAGTTCCCAAAGTATTTTTCATTTTAATGTTAGATTCAGCCCTATTATTTACTTCTTTATTCTGATCTTGTATGAAGTTATGTGTGTTTGTGTTTCAGGTGAAGGCTAAATTCTCAGTGGATGATCACAGTCATTATCTGTTCACTCCATGTTTACTCACAGAGTGGGTCCTGAATCTGCTGCGGTA[C/A]GACCTGAGCGCAGGTGAGCTCAACACACTCAATAATTCACTAACATCTCCTAAAACTCTATATATGTCTTTATATATTGACCAAATACCGATCCAGAACATTCTACAGTATAAGGCATCACATGTTTTTAGAGCTGTTAGCAGCTAGTGTGTTAACTTGTTACTTGTTATACAGCAATTACTTTAAAAGGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNACACACAAAATAATACACAAACACTTACAGAAAAAAACACTCACACACACATACACTCAAACAAAATACACAAACAAACACACAGAAGAACACTCA
Associated Phenotype:
Not determined