Busch Lab

ZMP

LOC565314

Ensembl ID:
ENSDARG00000042261
Human Orthologue:
CDAN1
Human Description:
congenital dyserythropoietic anemia, type I [Source:HGNC Symbol;Acc:1713]
Mouse Orthologue:
Cdan1
Mouse Description:
congenital dyserythropoietic anemia, type I (human) Gene [Source:MGI Symbol;Acc:MGI:1916218]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa5902 Nonsense Confirmed mutation in F2 line Not yet available
sa12748 Nonsense Available for shipment Available now
sa36480 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39173 Nonsense Mutation detected in F1 DNA Not yet available
sa36481 Splice Site, Nonsense Mutation detected in F1 DNA Not yet available
sa16437 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa5902
Status:
Confirmed mutation in F2 line
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
ENSDART00000061961 Nonsense 360 1288 4 28
Genomic Location (Zv9):
Chromosome 17 (position 38623033)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 38507930
GRCz11 17 38455515
KASP Assay ID:
554-3945.1 (used for ordering genotyping assays)
KASP Sequence:
TTCCCAGTTGCCTTGCCCTGACCCTGACAAAGTGACACAGAAATCARAGT[T/A]GGAWCTCTTAGCGGGGCTGTATTGTGCCTGCATWTCAGGTAAATGGYCTG
Long Flanking Sequence:
AAGTTAGCACAATTACAAATACATGTAATTTAAATAGAAATACAAGACAAAAATACAAATAATCTACAACTTTTATGCGTTTTTTGCAGAGCAACCAAACCTTCACGGAGAATTAACCCAACACCTGTAAGTGCAGAGCGGCCGAACTCTAAACCTAAGAGCTGCTTTACCTCCACCCCTCTCAGCCTTCCTGCCAGTCCTCCTAAAATACCCGAGAGCACTGGCAGTCCTCACAATCTGCAGGAGGAGAGGGAGCTGCTGAAGAGAGAACGGTGTGTTGGAGCTGTTAGTTTCAGTTATATTTCTGCTTTTCTGTTCACAGTTAACCATAACACGTGTCTTTTCTAGGTCTAAACTTGCCCAGCAGACCAGCTCTCCACTAAAAACCAACTCCGAAATCTGTACCCCAACCAAAACAGTGCATATGCAAGGCTCAAAAGTGACTCCTGATTCCCAGTTGCCTTGCCCTGACCCTGACAAAGTGACACAGAAATCAGAGT[T/A]GGATCTCTTAGCGGGGCTGTATTGTGCCTGCATTTCAGGTAAATGGCCTGCAGAGGGTGTTGTGTGCTGTTTTTTTATTTATAGTTAATCAAAGATTTTTGTGAGTGTGTCATGATTCACAGCTTGGCTAACATTCTAACATTGGATAACATTGGTTAACATTCATGAATTATTTCTAATTGATTAGTTGAATAAAGGTAGTGCATGAATCATGTAAACCAGGCCTGGTGAAAGGGAGTTCTTTTTTCTCAAGAGGTGCGGTTATTCGCCTTATTTTCTACTTAATTATAAGATTTAAATACTGCCTTTAGGTTACATTTTAAGCACTATTTTTAGCTGAATTAGCTTGTTGGATGCTCATCATAACCACACTTTTTGATGTACCAAAATATTTCCTAAATATTTAGAATAAAGAAATAGGTCCCACTTTATATTTAGTGTCCCTAACTACTATGTACCTGCATCAAAAAAATAAATGCAATGTACTTACTGTGTTTATA
Associated Phenotype:
This allele has been associated with this phenotype by genetic linkage analysis and may not be causal.
See FAQs for more info.
Stage Entity Quality Tag
Larval:Protruding-mouth
ZFS:0000035		 eye
ZFA:0000107		 decreased size
PATO:0000587		 abnormal
PATO:0000460
Larval:Protruding-mouth
ZFS:0000035		 head
ZFA:0001114		 decreased size
PATO:0000587		 abnormal
PATO:0000460
Larval:Protruding-mouth
ZFS:0000035		 inner ear
ZFA:0000217		 decreased size
PATO:0000587		 abnormal
PATO:0000460
Larval:Protruding-mouth
ZFS:0000035		 pericardium
ZFA:0000054		 edematous
PATO:0001450		 abnormal
PATO:0000460

Mutation Details

Allele Name:
sa12748
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
ENSDART00000061961 Nonsense 428 1288 6 28
Genomic Location (Zv9):
Chromosome 17 (position 38626008)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 38510905
GRCz11 17 38458490
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTAGATGTTCTGGAAAAAGCTTACYTAGGAAATGTCCACAACTGTGTGTA[T/A]TTTTCTGTGAGAGTGTTGGAGAAACARTTTGAGTAAGTCTGATTATAGTG
Long Flanking Sequence:
TTTAAAAAATGAATTATGCATTTGGTTATGGTTTTATATTATTTTTTCACATTGACGTTTTTATTATTTTTAATAACAATAACAGTTTTGCAATTTAGCAGTAATTTGTAGAATCTTGCAGGAAAGTAATAATTTGTCAATTATTTTTTAAATTTATTAATATATTCTTGTATATCTTTTCATAATTGTTTTTTTTTGATTATGTGATTTGCTCATCTAAAGGCAAACAGAAACTCCTTCCATGAAAAAGGCATTGCAGTTGTTATGCAAATAATAATAATAATAATAATAATTATTATTATTATTATCATTATTATTATTATTATTATTTAAAAATAGTTGAAATAAGATTGTTTTTGCAGGCATTTTCTTTTATTATTATTAAAAAATTAATCAGTCTCTGAATTATTGATGCTGATTAATTTTCTGTGTTTTTTCATTCATGTCTTTGTAGATGTTCTGGAAAAAGCTTACCTAGGAAATGTCCACAACTGTGTGTA[T/A]TTTTCTGTGAGAGTGTTGGAGAAACAGTTTGAGTAAGTCTGATTATAGTGTTATTACTGTGTTATTACACATCATTGTCAGAGTGCCTGATTATTTCTTTTCTATTTGTCAGGTTGGTGTCACACCTGGATAAATGCACATTACGGCTTCTGTCTGAAAATGAGAGAGTGGGGACTTTCTCCTCCTCCCTTAAAGACTGCTTGGCAGAAGCTCAAGACAACTGCACAGCTAAAGTAAGCATTCGTTTAAAAGCAACCAGTAAGTTCTGTTTTGAAAGCTCACGCTGAATAATGTTCTTAATTTGTTAGGTACCTCCTAGTCCGCCCTTATTTGTTCATTCAGTCCCGTTCCAGCCTGCCACAGACAACCGCTCTAATTTTAGCAGCGACAAGGCCTTTCACACCTTTAAAAAGCAGAGGTACATTTTTCAAAACATACATGAGTTACTTGGCAAATCAGTTGCTTAGATGTACATGGTTAATGTTGTGTTTTTTTTTTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36480
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061961 Essential Splice Site 479 1288 7 28
Genomic Location (Zv9):
Chromosome 17 (position 38626243)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 38511140
GRCz11 17 38458725
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCCCTTAAAGACTGCTTGGCAGAAGCTCAAGACAACTGCACAGCTAAAG[T/A]AAGCATTCGTTTAAAAGCAACCAGTAAGTTCTGTTTTGAAAGCTCACGCT
Long Flanking Sequence:
CCTTCCATGAAAAAGGCATTGCAGTTGTTATGCAAATAATAATAATAATAATAATAATTATTATTATTATTATCATTATTATTATTATTATTATTTAAAAATAGTTGAAATAAGATTGTTTTTGCAGGCATTTTCTTTTATTATTATTAAAAAATTAATCAGTCTCTGAATTATTGATGCTGATTAATTTTCTGTGTTTTTTCATTCATGTCTTTGTAGATGTTCTGGAAAAAGCTTACCTAGGAAATGTCCACAACTGTGTGTATTTTTCTGTGAGAGTGTTGGAGAAACAGTTTGAGTAAGTCTGATTATAGTGTTATTACTGTGTTATTACACATCATTGTCAGAGTGCCTGATTATTTCTTTTCTATTTGTCAGGTTGGTGTCACACCTGGATAAATGCACATTACGGCTTCTGTCTGAAAATGAGAGAGTGGGGACTTTCTCCTCCTCCCTTAAAGACTGCTTGGCAGAAGCTCAAGACAACTGCACAGCTAAAG[T/A]AAGCATTCGTTTAAAAGCAACCAGTAAGTTCTGTTTTGAAAGCTCACGCTGAATAATGTTCTTAATTTGTTAGGTACCTCCTAGTCCGCCCTTATTTGTTCATTCAGTCCCGTTCCAGCCTGCCACAGACAACCGCTCTAATTTTAGCAGCGACAAGGCCTTTCACACCTTTAAAAAGCAGAGGTACATTTTTCAAAACATACATGAGTTACTTGGCAAATCAGTTGCTTAGATGTACATGGTTAATGTTGTGTTTTTTTTTTCTTATGTTGTAGGGATGTGTTTTATGGGCTCCTCAGAGAATGGGAGGACTCTCATAAGGAGCCTGGCTGGGATTTTGAGGCAGCATTAGGCAATAGAGTCAGGTAATGTCTGTTTATTCATATAGCCATTCATATAACAGTCTTAATATTGACCACTAACATCTTATGGTAATTGTTTTAATCCTGATTCCCAATGTGAATTCTTTCAATTTTCACTCACAGGATGATGGTCAGTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39173
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
ENSDART00000061961 Nonsense 513 1288 8 28
Genomic Location (Zv9):
Chromosome 17 (position 38626416)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 38511313
GRCz11 17 38458898
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACAGACAACCGCTCTAATTTTAGCAGCGACAAGGCCTTTCACACCTTT[A/T]AAAAGCAGAGGTACATTTTTCAAAACATACATGAGTTACTTGGCAAATCA
Long Flanking Sequence:
TTGATGCTGATTAATTTTCTGTGTTTTTTCATTCATGTCTTTGTAGATGTTCTGGAAAAAGCTTACCTAGGAAATGTCCACAACTGTGTGTATTTTTCTGTGAGAGTGTTGGAGAAACAGTTTGAGTAAGTCTGATTATAGTGTTATTACTGTGTTATTACACATCATTGTCAGAGTGCCTGATTATTTCTTTTCTATTTGTCAGGTTGGTGTCACACCTGGATAAATGCACATTACGGCTTCTGTCTGAAAATGAGAGAGTGGGGACTTTCTCCTCCTCCCTTAAAGACTGCTTGGCAGAAGCTCAAGACAACTGCACAGCTAAAGTAAGCATTCGTTTAAAAGCAACCAGTAAGTTCTGTTTTGAAAGCTCACGCTGAATAATGTTCTTAATTTGTTAGGTACCTCCTAGTCCGCCCTTATTTGTTCATTCAGTCCCGTTCCAGCCTGCCACAGACAACCGCTCTAATTTTAGCAGCGACAAGGCCTTTCACACCTTT[A/T]AAAAGCAGAGGTACATTTTTCAAAACATACATGAGTTACTTGGCAAATCAGTTGCTTAGATGTACATGGTTAATGTTGTGTTTTTTTTTTCTTATGTTGTAGGGATGTGTTTTATGGGCTCCTCAGAGAATGGGAGGACTCTCATAAGGAGCCTGGCTGGGATTTTGAGGCAGCATTAGGCAATAGAGTCAGGTAATGTCTGTTTATTCATATAGCCATTCATATAACAGTCTTAATATTGACCACTAACATCTTATGGTAATTGTTTTAATCCTGATTCCCAATGTGAATTCTTTCAATTTTCACTCACAGGATGATGGTCAGTCAGCTCACAGCAGCAGGAAGCCAGTCTCACTTTGCTAGACTCTTCCAGAAGCAGCTTGTCCAGGTGGGCCACAATGGCTGATTATACTCCCTTTTCCTTCCTGTTTTGTATTCAATGATCATAGATTGTTGTTGTTGTTTTTATCTAGATGTGTAAGGGCCCGAGTGTGCTGGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36481
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:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061961 Splice Site, Nonsense 684 1288 12 28
Genomic Location (Zv9):
Chromosome 17 (position 38630183)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 38515080
GRCz11 17 38462665
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCGAGCCCTGCCCAGGGAGAGAAGACGGCTGATGGAGACATGGAGCAG[C/T]AGGTCAGAACAAAAAGCAAAATACCACAAAATACTCAAAGGCTTTGAATG
Long Flanking Sequence:
CACATGGCTTCTGAAAAGCATAACAGAGAAATGGTGGATTTATTTTTTATTTCAAATTTTTTTTTTTGCTTTAACTCATTAAAAAAACCCTGTCATGATAAATACAATTGTTAAAAATTAAAGTATCTTTTTTTTGTCCCATATAGTTAACTATTTATGCGATGTGACTAAAAGTTGTGTTTCAATCCGACTACCACCGCAAGTATATTTCAAACCTGTGGGAAGCACTGAGCGTAAAGCACATGTTGTCAGGAGTATAGTATTGTATGGACAGTCTGAAAAATCCAGATTAAAAGTCTCAGAACTAGGATTAGAATTTTAGTATCATTTTTATGGTTATTAGCTCTAATTCCATTCATCTTTTTACTAGCTGCCAGCTAAATCAGCACCTGAAAGATGGTCTGTGTCAGCAGCTGCTGAAGCTGGATGAGGTGTCCATTCTCGGTCCAGATGCGAGCCCTGCCCAGGGAGAGAAGACGGCTGATGGAGACATGGAGCAG[C/T]AGGTCAGAACAAAAAGCAAAATACCACAAAATACTCAAAGGCTTTGAATGGTTTTAAAACCTATTTTTGATTCAGGATGAGAAACAGCGATTCTCCTCTGTGCTGCTCACCGCTAGACTTCTGGCCAAGTTTTTGGGTTTCATCACTTTCCTACCTTACCAGACCTCTGAGCTACCATCAAGAGACATACAGGATGCTGCAGTCGCTCTGCGGAGCAAGGTATGCCCGTTATAAAGGCAATATTTGTTTTAATTGACCTAAAACAGATATATTCTTCAAGGCTCAGTATGTTTCATGTGTATATCATCAGAGTTTTCCAGTTCTGGACGTGTGCACGGTGTTGAGGAATTCAGTCCATCGTAGACGCACAATTCTGACAGTGCCATGGATGGTGGAGTTCTTATCTATGCTGGATTACATTGGACCACTTCTGCCTTGTTACAGGACCGCTCTGTGCCTTCTACTCCAGATCTACAAGCAAGTTTAACTACTAAATATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16437
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
ENSDART00000061961 Essential Splice Site 1146 1288 24 28
Genomic Location (Zv9):
Chromosome 17 (position 38638710)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 38523607
GRCz11 17 38471192
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATYGAGTCTGTATTGGACAGGGTKGGACAAACACTTGGATGCCGAAAAG[T/C]AATCAGACCCCCATACAGAACACTTGTTATCCACAYATCAGTGTTTTAAT
Long Flanking Sequence:
TCAGAAGAAGTTTATTAAGTTTATGTAGTATAACAGTGTGTTGGCTTTCTCAAGCCACCATAATAAAATGCTTGTTGCAGTACAAACATGCCTGAATTGGAAATATTTAAAACGATGTAATAAAAACAACAGATGAATGCAACAAAAAAACTGATTAAAATAGAATTTAAATAAAGAAATATGCAAGTGTAAAAATGGATAAAAAAGAAAAGAAGCTAATTCAAAAGAGTATTCATAGTTACTCATGCTAATATAGCACTGGCTATCAGTACACCTTTGACATTAACCAGTTGGCTGATTAATTAAAATTTCTGCCTTACTATTAATAATAGAAAATTAGTAACAAAAAATCAGCAAGTCTAATTTAATGGGATTTTCTCTGATGTTTCAGGACGTTCTGAGTGTTGCTGTAGGACCCAGATCTGATGATGAGGTTTTCACGGTTCGTCAGATTGAGTCTGTATTGGACAGGGTGGGACAAACACTTGGATGCCGAAAAG[T/C]AATCAGACCCCCATACAGAACACTTGTTATCCACACATCAGTGTTTTAATAGTTTTTCTTACTTTCTCCTCTTGTCCTGGTGTGTTTCTAGCGTCTCTCTCCGGTGGTCGAGCAGATGCTGTTGCGTTGTACTGTTCAGCTGGCCTGCAAACTTGGTGAGTGAAACTGAGAACAGTCCATAAAGTCAATTCTGATCATGATTAATATCCTCATGTGTGTATGTTTGTATCTGTTTTTACATGTGAAGTATCTGGAGAGCTGCCGCTGGTGTCCTCCGCCGAGGGGAACAAGAGACCTGATCTTCTGGAAAGGTTTCTGGTTCTGTGGTCTTGGACTCCCGCTCCACCTCTGCACCTTCTTCTCACTGAACCCACTTTGACTGCCATATTTACTGCTACCGATAGAGAGGTAAAAGCACTGTGCAGTTTTGCTAAGCTGTTGCATCCATATCCTCTTTGTAGTTAGTCAATATTAGGGCTGTGCAGTTAATCGAAGTCGAA
Associated Phenotype:
Not determined