Busch Lab

ZMP

abca2

Ensembl ID:
ENSDARG00000013500
ZFIN ID:
ZDB-GENE-050517-1
Description:
Novel protein similar to vertebrate ATP-binding cassette sub-family A ABC1 member 2 (ABCA2) [Source:
Human Orthologue:
ABCA2
Human Description:
ATP-binding cassette, sub-family A (ABC1), member 2 [Source:HGNC Symbol;Acc:32]
Mouse Orthologue:
Abca2
Mouse Description:
ATP-binding cassette, sub-family A (ABC1), member 2 Gene [Source:MGI Symbol;Acc:MGI:99606]

Alleles

There are 10 alleles of this gene:

Allele Name Consequence Status Availability
sa40425 Nonsense Mutation detected in F1 DNA Not yet available
sa9569 Nonsense Available for shipment Available now
sa33597 Nonsense Mutation detected in F1 DNA Not yet available
sa33596 Nonsense Mutation detected in F1 DNA Not yet available
sa40424 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa45201 Nonsense Mutation detected in F1 DNA Not yet available
sa18415 Nonsense Available for shipment Available now
sa40423 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa40425
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
ENSDART00000090743 Nonsense 141 2503 4 49
ENSDART00000141554 Nonsense 119 2418 3 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26832807)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24660072
GRCz11 5 25163872
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCACCTCGAAAGTCTGAGCTCAGCACAAGGCCCTCTAGAGAGCCACTA[C/A]AACACCAGCCACGGTCAGAAAATGCACAGACATACTAAACATGCAGCAGA
Long Flanking Sequence:
GCGGAGTAATACACAAGGGTGAAGAGGCAGTACTAGTGCTGTTATTTGCAGAATATCCCACGACTATCAGCCAATTATATTAAAAAACCAGACAGAACTGGTGTATAAATATGTATGATGTAAATATAAACATGTAACAGCGATGCTGCAAATATTATAACACTGTAAAACTTTTTTTAATCTCTCTAATAATCTATGGTCTATATCCTATACTTGTTTGTTGTTGCTGTTTTTCTATTGAGTTACCTCACGTTTGGGATTTGATCTTCTCTTCTCATTCGTGTGTTCTCTTTGCTCCTCTTATGATTAAAGTTCACTTCTCTGACCTCAATGTTTCTGTTGTGTCTCAGTGTGACTCAATTGCTGGAAAGGATAAGTGAAGTTGTGGAGCAGAATCACTTGTTTACATCAGACAGGCCCAGTCTGGGAGAGGAGCTGGAGTCTCTGCAGCAGCACCTCGAAAGTCTGAGCTCAGCACAAGGCCCTCTAGAGAGCCACTA[C/A]AACACCAGCCACGGTCAGAAAATGCACAGACATACTAAACATGCAGCAGACTTCATTATCTTGCATGTCTTTATGCAAATTAGAAATTAGAAGCAAATCAGTACGGTAGTAACACAGTGCTGCTGTTACTGTCTGATTTGGTGACAAGTTAATTCAGACACTGATTGCATGATATTTTATTGTGGTAGAATTATGACTAGCTTAACAAAAGTTATAAAATAACTACATATTACCAACCATTAAGATGCATATACAGTTGAAGTCAGAATTATTAACCCCCCTTTGAATTTTTGTTCTTTTTTAAATATTTTCTAAATGATGTTTAACAGAGCAAGGACATTTTCACAGTATGTCTGATAATATATTTTCTTCTATAGAAAGTCTTATTTGTTTTATTTCGGCTAGAACAAAAGCAGTTATTAATTTTTTAAACACCATTTTAAGGACAAAATTATTAGCCCCTTAAGCAATTTTTTTTCGACTGTCTACACTGTAAACCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9569
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090743 Nonsense 312 2503 8 49
ENSDART00000141554 Nonsense 231 2418 6 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26816663)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24643928
GRCz11 5 25147728
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTGTGGGGAAGGAGGGAACAGTGAGATTGGCAAAATCCTATTGGTCCCT[G/T]AGAAACAACAGGYGGTTTTACAGGCYTACYGCACGACTGTTTGTGGTTTA
Long Flanking Sequence:
CTCAAAAAACTAAACCTGACCCTATCCGAGTCCATGCACCTTGTGTCCGAGCTGACTCAGTCTTACACATTAACTGTAATTATGAGCCCGTGCCAGATTTTTGACATGACATTTCAGTCTATCCCTATTTATGCTCAGAAGCAACTACTTGGAGGCTGGCACAGTGTAGACGGGGGTCTGATTCAGAAGGCACTGAGAGATCCCACAAAAGCTGCTCACCGTCAAGCTCTTCTCAAAGTCTTCTCTCAGGCGTTGGGCATCGCTGGCGGTGTAGGAGGTCAAAAATTCGATCCTCAAGCACTGCGTGAGATGGAGGTCAGTCTGACACTACACTTTAACAGTTCATTCCACTCTAATCATATCCTTGAGTTCAGTGTCCATGGCTGACAAATGTACCTCTTATATTTTTTCAGGGAGTTCTGTTGACTGGTGCAGTGCTTGAAAGCCTTACCTGTGGGGAAGGAGGGAACAGTGAGATTGGCAAAATCCTATTGGTCCCT[G/T]AGAAACAACAGGCGGTTTTACAGGCTTACCGCACGACTGTTTGTGGTTTAGGGGCGGGGCAGAGGGCGGAGCTTTTCAGACAGTTGAGTGAAGAACTGAGAGATCAGATTGACACACAGAGAGTCTTTGATCAGGTACAGTATGTGCAAGAACAACACTTTTTTTTAAGCAAAATACTGTAATTTTGTTGAATTTGGCTAAATGTTCTTGTTTGTTAATTGTTTATTTTACCAAATCAGTCAAAATCAAATCAAATCCCTTTTATTGTCACATCATCAGCAGCATGTGTGCTATAATGAGTGAAAAACTTAGTGAAAAGCAAAATAAAACGACATACTCCAAAAAAAAAATTGTTTAATTTAAAATAAAATTGTTAATAGTATGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTATATACTATTAACAATGTTGACAATAAATATGTAAAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33597
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
ENSDART00000090743 Nonsense 569 2503 11 49
ENSDART00000141554 Nonsense 484 2418 9 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26810601)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24637866
GRCz11 5 25141666
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAGGGCCTTTTTAGAGGAGGGTAAATTGCAAAATCACCTGATGTGGCTC[C/T]AGCAGGTAACACCCTTTCTTTCAGTCACTAATCTAAAAGTATTTGGTTTC
Long Flanking Sequence:
CAATTGACTGGTAATTCAGTGGTCACAGGTTTCCAGCTATCTTCAAAATATATAGTTTTTTCATCAGAAAAAAGACAAACAGGTTTTGAACAAGTGAAAGGATGAGTAAATGATTACAGAATTTAGATTTTTAGTTGAACTATCCCTTTAAGCCTGTAAATATTTTTAAATATTTAGTATATTGACAATTTATTATGCTGCAGTTGAATGTGCAAACAAATAGTTTTATTTTTATGCTGTTTCATTTCTTCTGAATTCAAATGGCATTTATAAAGAAAAATTCTTCATTCGTTATTTTATTCAATTTATGTTGTACCCACTGAATAGAAAATCATTTGATTTGTTACATTTTTTATGATATTGTTTGTTCTCTTTAGGCCAATGAGACCTTTGCTTTTGTGGGGAATGTGACTCACTATGCCCGTGTGTGGCTCAACATCTCTGCTGAATTAAGGGCCTTTTTAGAGGAGGGTAAATTGCAAAATCACCTGATGTGGCTC[C/T]AGCAGGTAACACCCTTTCTTTCAGTCACTAATCTAAAAGTATTTGGTTTCATGCATGTGGTCGTTGGTAAAGATTTCTCTCAGAAAAAAACGCAGCAACAAATATTCTGCATTAACAAGTTAAAATAATATTAATAAGTCAAGATTTGTAATGTCTTTCATCAGGCCTCTACAGGTCTGAATTAGTACAAATACCCATATAAAGTGCCTGTTCTCCCTGTTCTCAAATAATAAAAATAAAATATTTTGATTTTCGACTATATGACATTGATGTTCATTCATTTCATACAATCACGATTCCATGATGTGTTCATGGGAAAAATTAGCAGTATGTTTATTTACTCCATGAAGATGTTTGTCTACAGTATAATTAAATATTCTTCTAATGCAAGTAATTCATCCATTAAATGCGTATATTAGTTAAATTCATTCTTCATCAAGCACATTGTTGCATGAAATAAAAGACTGAACTTTTAAAAAACTAACAAAGCATGATTGAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33596
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090743 Nonsense 676 2503 14 49
ENSDART00000141554 Nonsense 591 2418 12 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26807193)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24634458
GRCz11 5 25138258
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGATTTTCCAGACCAATAAAGATGGATCCCTGCCACCCCATGTTATGTA[T/G]AAAATTCGACAGAACTCGAGCTTTACCGAGAAAACCAATGAAATCCGACG
Long Flanking Sequence:
TTTTCCTATCAAATTGTGCCTTTAAAGTTGTGTGACAAAATGTCTGAACAATGTATAATCAAAATCAGTAAAGAGGTTTTTATATTGTTTTAATGCTACAAGAAAACCATATTGTGGTTGTAAGAATATTTGTCAAAAATGCTTGCCATAATGCATGGATCCTTAAGGAATTTTTGTTGTCCGGCCCAAAACAACAACAAAAAAGTTTCACTATTTGGATTCAAGTTAGGAAAAAAAAGATTCAATCATACACTCTTTTTGGCCAGGCAGTGTTGATTCATATATATATTTTTTTTTTAGGTTAAAAAATGCCTTTTTGTTAACAAGCATTGTGAGACCCATCCATTTCCCATTAAAACTACATTTTCATGATTCATTTAGCCCTTAGTCATACCTTGTTAAACTTAGCCAGTAGCCATATCTTTTAATCTGTGCTTTCTCTCTTTAGGTGTGATTTTCCAGACCAATAAAGATGGATCCCTGCCACCCCATGTTATGTA[T/G]AAAATTCGACAGAACTCGAGCTTTACCGAGAAAACCAATGAAATCCGACGTGCTTATTGGCGCCCAGGGCCAAACACAGGCGGCAAATTCTACTTCCTTTATGGCTTTGTGTGGATCCAAGGTATGAAAAAAGGCTAACAGAAAGCTCTATTTATTCCTCACATCAAGATGTTATATGATTGACCAAAACACAAGTAGATGAAAGTGGCACATTTTAGGTATTTTAACTGGCATTTTAGTCTATTTACTTTCAACAACTACCTTATTCATTTGAGAGGATGGTCTGTTCTGTATGTTCAGGCTTATTCTCATTTTTAAAGTCTAATATTGTGAAATGGTGGCTTAGTGGTTAGAACTGTTGCCTCACAGCAAAAAGTTTGCTGGTTTGAGTCCCGGCTGCATTAGTTGGCGTTTCTCTGTGGAGTGTGCATGTTCTCCTCGTGTTGGCGTGGGTTTCCTACGAGTGCTCACCTACAGACCAACAACATGCACTATAGGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40424
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
ENSDART00000090743 Essential Splice Site 853 2503 17 49
ENSDART00000141554 Essential Splice Site 768 2418 15 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26800994)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24628259
GRCz11 5 25132059
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATATGGCTTTTTCTTACAATCTACGCTGTCGCAACCATCATGTTCTGG[T/C]ACTGAAGTGTGCAATAAGTCACATTTAGTTCTGTCGCTGTGTATTTTATT
Long Flanking Sequence:
TTGTTGATACAACACTAGTGATGATGTATCAGCTGGCAGAGGTGAAGAATTGTAACAGGTGTTTCCATTGTCAGTTTTCTCTTTGTTATCGAGCACATGATGCCTCTGTGTATGGTCATATCCTGGGTCTACTCTGTGGCCATGATGATCCAGCACATCGTAGCAGAGAAGGAGCAAAGACTGAAAGAGGTAAGAGAGCAGACTTTAGAGAATGGATTTCCTTCGCTGAGGAACTGAAGCATGGTCACTTATAAACTTGAGAGAGATCAAGAGCAGTGCTGTGGTTGACGCAGAGTGTTTTTCCACAGGTAATGAAGATGATGGGCTTGAATAACGCAGTGCACTGGGTGGCCTGGTTCATCACAGGCTTCGTGCAGCTTTCCATCTCAGTGACGGCCCTCACTGCCATACTGAAATACGGGAAAGTCCTCCTTCACAGCGATCCCTTCATCATATGGCTTTTTCTTACAATCTACGCTGTCGCAACCATCATGTTCTGG[T/C]ACTGAAGTGTGCAATAAGTCACATTTAGTTCTGTCGCTGTGTATTTTATTCTATTTACATACTGTAAACCCCAAAAAGGTAACTCAAACCGTTTGAGGAAACCGATTGCAACAAACCATCTAAGTTCAAAACCTAATCCTAATGAGTACTGTGAACTTATTCCATTTGAGTAAATGAAGCAATTTGAGCACAGTAAAACCCAATAAATGAAGAGAACTCAAACCAACTGAGTACTGTAAAACACAATAAGTTGAGACAACTCAAACTGTTTGAAGAAACCTATTGCAATAAACTATTTGAGTTAAAAAAATTATTTAAATTTAATGTTTAAGTAGAAGTAATGAGGTATGTATTACGCAATACCCTCAACACTGAGTTCAAAACTTTTTCCAAATGAGTAGAATTAACTTTCAGTAAATTTTGAGTTAATTACACTCATTTCAGTTGATAAAATTGACTGTTGGCTTTTACAGTGCATAGATTTTATATATATATATAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45201
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
ENSDART00000090743 Nonsense 1219 2503 23 49
ENSDART00000141554 Nonsense 1134 2418 21 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26792023)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24619288
GRCz11 5 25123088
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAGTAGACCCATATGCCCGTCGAGCGATCTGGGACCTCATCCTGAAATA[T/A]AAGCAAGGTGATATTTTCTTTATTAACCACAATAAAGTTCTGCATTGGTT
Long Flanking Sequence:
TTGAAGAAGGACAAACTAAAGTGGTCACCGAAATTACTTGAAGCTGAAAACAGTAGTGATTAATCAAATATTACTGAAAATAAACTATTGAAAATAAGATATTGTATTCGAGTTGTTGTTCAAAAGATGCATTAAAAAGGCAAACAAATGAAACTGGCCTGGAAAAAATTGAAAGGTGCAAACACTGTTTTCAACGTCTGCACAAAAACTCATTAAGAGAAAAAGAACAATACTTTTAGACCATGCACTGGATACGCTTACCATTTTTTCTGTTTTTAAAATAGCAATACTCTTTATGTTGGTATTCACAGGATGATAGAGGATCTCGAATTATCTAATAAACGTCACAGTCTGGTTCAAACCCTGTCAGGAGGGATGAAAAGGAAGCTGTCAGTGGCCATTGCTTTTGTAGGTGGGTCTCGGGCAGTGATTTTGGATGAACCAACAGCAGGAGTAGACCCATATGCCCGTCGAGCGATCTGGGACCTCATCCTGAAATA[T/A]AAGCAAGGTGATATTTTCTTTATTAACCACAATAAAGTTCTGCATTGGTTTTTAAAAATAGTTACTAAAATAGACTCACCACCAGGTCGCACCATCCTGCTGTCCACTCACCACATGGATGAGGCTGATCTGCTGGGTGACCGCATTGCCATCATCTCTCATGGCAAGCTCAAGTGCTGCGGTTCTCCTCTGTTCCTCAAGAGCACATATGGAGACGGATACAAACTCACACTTGTTAAAAAACAGAGTGACTCACACACTGCAGGTATATTTATGGGAATGTCTCTCTCTTTGTTTGTGGATTTGCTCATTTGAGAAAATGTTAATGAATAATGTCTGAGTTGTCATGTAGGTGTTGCAAGATTGAGTCCAGCTTAAGTCATTCCCCTTTTTGATATCCTCTTTTTTCAAATCTCATATCAGGAAATGTACAAATGTTATTGTTACAACCCCTGGCACACTAGTGGAGTGGGCTTGCACACTTGAGCTGAGTATTTGGT
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa26470
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090743 Essential Splice Site 1222 2503 23 49
ENSDART00000141554 Essential Splice Site 1137 2418 21 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26792014)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24619279
GRCz11 5 25123079
KASP Assay ID:
2259-5805.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATATGCCCGTCGAGCGATCTGGGACCTCATCCTGAAATATAAGCAAGG[T/C]GATATTTTCTTTATTAACCACAATAAAGTTCTGCATTGGTTTTTAAAAAT
Long Flanking Sequence:
GACAAACTAAAGTGGTCACCGAAATTACTTGAAGCTGAAAACAGTAGTGATTAATCAAATATTACTGAAAATAAACTATTGAAAATAAGATATTGTATTCGAGTTGTTGTTCAAAAGATGCATTAAAAAGGCAAACAAATGAAACTGGCCTGGAAAAAATTGAAAGGTGCAAACACTGTTTTCAACGTCTGCACAAAAACTCATTAAGAGAAAAAGAACAATACTTTTAGACCATGCACTGGATACGCTTACCATTTTTTCTGTTTTTAAAATAGCAATACTCTTTATGTTGGTATTCACAGGATGATAGAGGATCTCGAATTATCTAATAAACGTCACAGTCTGGTTCAAACCCTGTCAGGAGGGATGAAAAGGAAGCTGTCAGTGGCCATTGCTTTTGTAGGTGGGTCTCGGGCAGTGATTTTGGATGAACCAACAGCAGGAGTAGACCCATATGCCCGTCGAGCGATCTGGGACCTCATCCTGAAATATAAGCAAGG[T/C]GATATTTTCTTTATTAACCACAATAAAGTTCTGCATTGGTTTTTAAAAATAGTTACTAAAATAGACTCACCACCAGGTCGCACCATCCTGCTGTCCACTCACCACATGGATGAGGCTGATCTGCTGGGTGACCGCATTGCCATCATCTCTCATGGCAAGCTCAAGTGCTGCGGTTCTCCTCTGTTCCTCAAGAGCACATATGGAGACGGATACAAACTCACACTTGTTAAAAAACAGAGTGACTCACACACTGCAGGTATATTTATGGGAATGTCTCTCTCTTTGTTTGTGGATTTGCTCATTTGAGAAAATGTTAATGAATAATGTCTGAGTTGTCATGTAGGTGTTGCAAGATTGAGTCCAGCTTAAGTCATTCCCCTTTTTGATATCCTCTTTTTTCAAATCTCATATCAGGAAATGTACAAATGTTATTGTTACAACCCCTGGCACACTAGTGGAGTGGGCTTGCACACTTGAGCTGAGTATTTGGTTACACTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18415
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090743 Nonsense 1561 2503 29 49
ENSDART00000141554 Nonsense 1476 2418 27 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26785724)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24612989
GRCz11 5 25116789
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTAGGTGACCTTCCTCCCCTGATCCTGTCTCCATCTCAATATCACAACTA[C/A]ACACAGCCTCGAGGAAACWTCATCCCCTACGCCAATGAAGACAGATCTCA
Long Flanking Sequence:
AGAAGTATCAATTAGCCTTAAGTCTGTTTTATTAACATTAGGCAACATATTTACACATTTTTTAAAATGTATGGTTATTTCTTTCACATTTAAAGTTTTTTATAAAGCATTAAAAAGTACTTAAGGACTTAATGTTGTATTTTTAATTATTGTATTTATTACATGTCATTTCTTTTAAAATACGTTGACCTTGCCATGAAAATAGTCATAGATGCTGCTACAACAGTAAGAACAAACGAAACATACACAATTAAGAGCAATCAACACATTCCAAATGAAACGTTTTGTTAGTAGCTACAGTGAAAACTCTCCACTGATCCTTAATTTAGTTCATTTTTATTTCTGGATAAGATTACGTTTAATATTAGTGTTTATCTTGAACAAAAGCTATGCAGATCTTCATCAGCCCAGAGTGAAGGCTGTGCTGATGCTGGTCTTTCTCTGGTCCCTGTAGGTGACCTTCCTCCCCTGATCCTGTCTCCATCTCAATATCACAACTA[C/A]ACACAGCCTCGAGGAAACTTCATCCCCTACGCCAATGAAGACAGATCTCAATACAGGTCCGACACATATCCTCACTGTACAGCAAAATAACTTTGTGAACATCTATGAGTTGTTTACAATGAATGTTTGTGTAATTAACTATAATGTAGTCACAGACAATGATCATGTTTACTTCACACACATTTTCTGACAACTCACAAAAGTCAGGTTATTGTTATAAACTGGTTTACATACCAACCAATAACCCAGAAATCTTTATTAATAAATCATGCTATCTTGCGATTGTGATGTCAAAATGTAGTAACTTGTGCATCTAACTTCAAGTATTTATTATATTTTGTCAGATGTCATGTTCAATAAATCATTAAAAACCAAAGCATATTGCTGTATGCCAGCAGGAAACCTAGAGCTCATATGTTGTATGAGTCAAAATGACAGAAAAAGAAGTAAAGAATCATTGTACAATTCCCACCATAAATGTTTCATTTAACTTAATTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40423
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
ENSDART00000090743 Essential Splice Site 2376 2503 46 49
ENSDART00000141554 Essential Splice Site 2291 2418 44 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26765086)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24592351
GRCz11 5 25096151
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGAAGTGATTCGGTTTTTTAACAGAAATTTTCCTGAGGCAATTCTAAAG[G/A]TGAGATTAGGTTAGATTAGGTTATGTTTTAGATCTGTATTTTCTGTTTAC
Long Flanking Sequence:
CCCACCACAGGTATGGACCCAAAGGCTCGCCGTTTCTTATGGAACCTAATTCTTGACATCATCAAGACGGGCCGCTCAGTAGTGTTGACGTCACACAGGTGCAGTATCTAATATAAAGGCTATTTTGGGTTTTAAAAGAACAGACCATTTAATGTATGATGTTCTGATGTCCTTGTTTGCAGTATGGAGGAGTGTGAAGCGCTGTGCACTAGACTGGGCATCATGGTTAATGGCAGGTTCAAGTGTCTAGGAAGCATCCAGCATCTCAAAAACAGGTTTGAAACTAATTCTCGGCCACTAAAATGTATGATTCAGGAATTCTACATTTATGAATGTGGGCATCTGAGTGCATTTATGACATTTTGCAACACTGTTTATTCCTTTATATTTATTTCAGATTCGGAGATGGATACATGATAACAGTACGCACTAAGACCACCGCTAGCGTTAAAGAAGTGATTCGGTTTTTTAACAGAAATTTTCCTGAGGCAATTCTAAAG[G/A]TGAGATTAGGTTAGATTAGGTTATGTTTTAGATCTGTATTTTCTGTTTACATTTTTTTTCTATTTTTTATGTATATGTTCTATTAATTTTAGTTTTGGTTTTTTTAGTTTGAACTATTTTATTTTTCAACTTTAACAATTAAGAAACAACTTGCTTGCGCTTTGGCAGCTAGCCGAAATACAAAAGCCTGAAGGTGCTGTATGTAAGTTTTTGACCATTCTAAAGCAAAACAATACCATAATATGTTTGGAGATATTTAAGAAACATGCTAAGTGAACATTCTTGTTTATCTAAAAAACAGTGCTAAGTCAGATATTCTGCTTTGAAAATGTACCTAATGTGCCGAAACAGCTGTCTTTGTTTTGGTTCTTTTAACTTCCTCACCTCCGATTGACAGTAGCAGATTCTGAAATGAGACGCAGATTCAGAGTTCCACATGAGCTGGTTATTAATTAGCAAATAATATAAATATTAAAAAGGTAAACATTAGGTGAGCAGGT
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa3552
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090743 Essential Splice Site 2422 2503 47 49
ENSDART00000141554 Essential Splice Site 2337 2418 45 47

The following transcripts of ENSDARG00000013500 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 26763101)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 24590366
GRCz11 5 25094166
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGTGCTGAGCATCGAGGATTATTCCGTCAGCCAAACCACACTGGATAAC[G/A]TAAGTAAACCTCGAGAAATAATACTAGTTTAAAAAGTCATCAAAGTGCAT
Long Flanking Sequence:
TCAGAGGTTTTTGCATCTGAAATCTTCATATCTTCATTTTATTGTCAGTAATAAATGAATTTATGGTAAGAATGATGAACAGAGTTTGACTGGAAATCTAGATTTGCTGTGCGTCAGCTCAAATGTCTCCAGAACAGATGGCTGTAGTATACAAGCACTTTTGTGTTGTCAATTTGGACTGTAATGTATTGTAATTGTATAAGACAATGAATTTTCCTACTTGCAGAAAGTTGCAAGAAGCTTTCCCAAGCTGTTTTCGTATAGTGCTGACAAATCTAAGTATACATGTGTGTGTATATTTTAAGCTTGCTTCGCTTGCAGTAAAAAAAAATGTAAACTTGTGCGTATTTCTTTCACCTAAGGAGCGACACCACACAAAGATTCAGTACCAGCTGAAGTCAGAGAACATCTCTCTGGCTCAGGTCTTCAGCAAAATGGAGCAGGTGGTGGAGGTGCTGAGCATCGAGGATTATTCCGTCAGCCAAACCACACTGGATAAC[G/A]TAAGTAAACCTCGAGAAATAATACTAGTTTAAAAAGTCATCAAAGTGCATATACATCATTTTAAAAGGGGATTTATTTTTCAATGTCCTTCTAAGACTACCTTTAATGCTCACTAAAAGCTTCTGATTTTCTAGTACTGTCTTCTGTATGATCAATTTGAAAAGGCTCTGAACAGAGACCTATAATGCCCCATTTTACAAGATGTAAAATAAGTCTCTGATGTGCCAAGAGTGCGTATGTGAAGTTTCAGCTCAAAATACTCCACAAGTTTTATAACTCCTTGAAACTACCCCTTTTAGGCTTTGATCTAAATTGTGCTGTTTTGGTGACTGTCCCTTTAAATTCAAATGAGGTTGTGCTCTTTTCAAAAGAGGGTGGAGCTACAATCGTAGCAGTAGATTCAAAACAGATCTAATGCAGTGTTGAGCTAGTTACTGAAAAATAGTAACTAGTTACAGTTATTAGTTGCTTCATTCAAAAAGTAACTCATTGAGTTTATT
Associated Phenotype:
Not determined