Busch Lab

ZMP

cast

Ensembl ID:
ENSDARG00000058693
ZFIN ID:
ZDB-GENE-050810-2
Description:
calpastatin [Source:RefSeq peptide;Acc:NP_001124063]
Human Orthologue:
CAST
Human Description:
calpastatin [Source:HGNC Symbol;Acc:1515]
Mouse Orthologue:
Cast
Mouse Description:
calpastatin Gene [Source:MGI Symbol;Acc:MGI:1098236]

Alleles

There are 11 alleles of this gene:

Allele Name Consequence Status Availability
sa23868 Nonsense Available for shipment Available now
sa15221 Essential Splice Site Available for shipment Available now
sa14469 Nonsense Available for shipment Available now
sa11266 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa23868
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081614 Nonsense 217 819 9 30
ENSDART00000131448 Nonsense 213 220 8 8
ENSDART00000132699 Nonsense 221 828 9 30
ENSDART00000133171 None None 190 None 8
ENSDART00000133443 Nonsense 217 274 8 10
ENSDART00000135937 None None 227 None 9
ENSDART00000136308 Nonsense 115 173 6 8
ENSDART00000138619 Nonsense 193 296 8 12
ENSDART00000139289 Nonsense 111 124 7 7
ENSDART00000139814 Nonsense 78 226 6 11
ENSDART00000141297 Nonsense 180 270 8 12
ENSDART00000144370 Nonsense 82 106 6 7
ENSDART00000144770 Nonsense 82 144 5 7
ENSDART00000148097 Nonsense 106 230 5 9

The following transcripts of ENSDARG00000058693 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 10036179)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 11519542
GRCz11 21 11612170
KASP Assay ID:
2261-5305.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCATGTCTCAGCCCAAACTGAAATCAGAGAAAGGTGTTTTGTGTGGTGAG[C/T]GAGATGACACGCTGCCGCCCGGATACAGAAAGGAAGACCTGGTCAGTTGG
Long Flanking Sequence:
TCGAACCGTCCAATCGATTCCTAAGGGTCAAAATTAAGTTCCTCCCTACACTACAGTACTTTTTTCAGTAACACTGTCACAATTCATGCTATTAACTAATGGCTTAGTATTATTATGATATTAACTTCATTAATAGTTATAAAGTATGATCTTATTCAGCATTCCTAATCCTGCCCATAATCTTATCCCAAAATTTATCTTATTAATTATTAATAAACAGATAATTAGTAGTTAATTAAGCTAGTAGTGTTGTTTAATGGTTTGTTTATACCTTGAATTGTGACATACAGTGTTACCCTTTTTTACTTGTTCAAGAAGCCTTTTCACTTAAATATACATCACTATATAAATACTATCATGATTTCCTTCTCCTGCCGACTTTTAAGGAATAATTTTAGCATGTGCATTCTCATTGTGTTTTGCTACGTGTGTTTTCTAATGGATTGCAATGCATGTCTCAGCCCAAACTGAAATCAGAGAAAGGTGTTTTGTGTGGTGAG[C/T]GAGATGACACGCTGCCGCCCGGATACAGAAAGGAAGACCTGGTCAGTTGGAGATCATACATATTCTCAACGTTTGCCTTTTTTTCTTTCATCTTAAAGGAAGAGTTCAACCAAAAACAGAGAGTTCAGCTGTAATGCATGAAACACAAAATGAGGACTATTGATAAACACACATTTTTTCATGCAGCTGCAATTAAGTGACTGATGCTTTAAGATTTAAAATGGACATAAAGGCACATAAAAGTAATGAATATAGTCACAGAAAGGATATGTGCGTGTATTCTTTCTGTAAACATACAGTATTATATTTTTGGGTGAACTGATCCTCTAAAAGGCGGTTCATTCCACTTTGGCGACCCCTGATAAGTAAGGGACTAAGCCAATGGAAAATAAATGAATGAATGATCCTCTAAAAACTAATGTCTAAAGATCTTTAAAGAGGATATTTTGAAGAAAGCTGAAAACTGGTAACCATCAATTTCCATATTAGTTTAATTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15221
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081614 Essential Splice Site 342 819 13 30
ENSDART00000131448 None None 220 None 8
ENSDART00000132699 Essential Splice Site 346 828 13 30
ENSDART00000133171 None None 190 None 8
ENSDART00000133443 None None 274 None 10
ENSDART00000135937 Essential Splice Site 204 227 8 9
ENSDART00000136308 None None 173 None 8
ENSDART00000138619 None None 296 None 12
ENSDART00000139289 None None 124 None 7
ENSDART00000139814 Essential Splice Site 203 226 10 11
ENSDART00000141297 None None 270 None 12
ENSDART00000144370 None None 106 None 7
ENSDART00000144770 None None 144 None 7
ENSDART00000148097 None None 230 None 9

The following transcripts of ENSDARG00000058693 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 10029615)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 11512978
GRCz11 21 11605606
KASP Assay ID:
2261-5304.1 (used for ordering genotyping assays)
KASP Sequence:
GAAAGCYAAAATGGAGACTCATGCACAACCAGCCAAAGCAAAGACAGAGG[T/G]RAGTCAGAAAATCTAGCTCAAGGCAAAACAYTGCATCRCCATACTTCACC
Long Flanking Sequence:
TGTGTTGAAAAAATCTTCTCTCCAATAAACCAAAAATGGGGGGAAAATAAACAGGGGTACTAATAATTTTGACTTCAGCTGTATACATATATTACTTTATTTTAAATCAAAAAAAGTAGTTTTAACAGTTAGATAATTTTATAAAGGATCTATGGTAACAGTCCATTCAGTTGTATGTTCGTATTCTTGACTAAATGTTTCTTTGTTTGACATGTGTTCACTTCTTCCCAGAAAACTGAAACAATAGGAGCAGTGGATGTTAAATCGGCAGGCACCACTAACTTTGCTCCCCCTCCACCATCTCAGCAGGTAACAACATTTTAAAACACATCGACAAAAACATCTGCATTAACATCAAAACTAAACATGTCTCTCTTTCTTTGAGCAGAAACAACCGGCGTCGTCTCAAGCTGCTGCTGTAACCAAATCACCTGCTCCACCGGCAGACAAGAAAGCTAAAATGGAGACTCATGCACAACCAGCCAAAGCAAAGACAGAGG[T/G]AAGTCAGAAAATCTAGCTCAAGGCAAAACACTGCATCACCATACTTCACCAAATTACATTTAAAGGTCCCGTGAAATGAAAATAAAAAATGTTATATGTTAGTGTCAGAAAGTTAGTTTTAAGGAAATCTATGAGCTAGTTTGCTCCAAAACAGTGACAAAATTTTCATTTAGAAGATATAAACATCCAAAGCTTTCAGTTTGTCACTTCCCCCTAAACGAATCAATCTACGAATTATTTAATGTCACCTCATGCTTCAGTTTCTCATCAAGTCTTCTGACCAATTAAATGCTCTCTAGTATCTGACATGCCCCACCTCCTTCAAGACGCTTTTCATTTGTTTGTCATTGGATGGGTTTGAGCTCAACCACTCACTGGCAGAGCTGTGATAAAACAAAATGCCATTGGCTGTTTTTTTTTAAGAGGAGGGGCTACTCTGTCCCACCCTATCTTCACATTTCAGTTGAGATAATTGTTAAACATTGAATAAAAATGCACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14469
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081614 Nonsense 519 819 20 30
ENSDART00000131448 None None 220 None 8
ENSDART00000132699 Nonsense 528 828 20 30
ENSDART00000133171 None None 190 None 8
ENSDART00000133443 None None 274 None 10
ENSDART00000135937 None None 227 None 9
ENSDART00000136308 None None 173 None 8
ENSDART00000138619 None None 296 None 12
ENSDART00000139289 None None 124 None 7
ENSDART00000139814 None None 226 None 11
ENSDART00000141297 None None 270 None 12
ENSDART00000144370 None None 106 None 7
ENSDART00000144770 None None 144 None 7
ENSDART00000148097 None None 230 None 9

The following transcripts of ENSDARG00000058693 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 10001598)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 11484961
GRCz11 21 11577589
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTTCAGTGCTTTGGGMGACACTCTTTCTGCCCCAGAACCACCAAAAAAR[C/T]AACCTGACCTGAAACCTAAGGACATCGTACAYGTAATAATGATGTCCAAT
Long Flanking Sequence:
TTCTATAATATCCAGTAAAAAGCAATGTTTTAATAGGGTATCTGTAAGTTTACTATTTTTTTTGTTTGTCTATTACATTCACCACTGTTTAAATAATGTCCTCTTTTTTGCACTTTGTCCAATATTTCCTGTGTATATTTCCAGATTAGTTTTCATTCAGAAATGATAAATATTTGTGTATTTCTGTTCTAATCTTCTAGGTTTCTTCAGCTGCTCCTAAAACCATCCCTCCAGGCCCACCACAAACCCCAGATGAGGTATTGTTCCAGAGGAAAATACATTATCATATTAATAAATTAATCTTATTAACCATATCTGTAGCTTATATATAGCTTATACATTTTTGCTGTCTATTGAACCCTATTTTTAAAACTGCTTGGATTCCACTTGAAACGTACAGATCTTTAAACTCTTTCCATTTCTCTCTCCTTTCCTCATACTCGCAGGATCCTTTCAGTGCTTTGGGCGACACTCTTTCTGCCCCAGAACCACCAAAAAAA[C/T]AACCTGACCTGAAACCTAAGGACATCGTACATGTAATAATGATGTCCAATACAACTGTTCTTTGATTTATTGCTTTCATAAAGATGTCAGTGCTCCATTTCTGAGTGCTAAAAAATTAATATCTAAATGTCTTTCGAGCAGGAGAAGGATGTGACGTCAAAGAAAGGAGTTCGTGTTGGAGAAAGAGACGACACACTCCCACCAGAATACAGATTCAAAGAGGAAGATCTCAAGAAATATCCTCCTCCTCAGAAAGATGTAATATGCTCTCACAGTTGTTAGCTTTAACTGAGTTTGGGAATTCAGCTAGTATCGCCATTTCTCTGGAAATTTCCGGTAATGCAAGTGGAAGTTGTTTTAACTGGCGAAACCGCTGTAGCTTTTTTCCTGCTTAACAAAATGTGTCTTTAAAATGCCTTACATAAATTAACACATAGTAACATGTCATTTTTGTGTTACACATTAAGGAATTTGTCAGATTTATCTGTCATGCTTTATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11266
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
ENSDART00000081614 Nonsense 552 819 21 30
ENSDART00000131448 None None 220 None 8
ENSDART00000132699 Nonsense 561 828 21 30
ENSDART00000133171 None None 190 None 8
ENSDART00000133443 None None 274 None 10
ENSDART00000135937 None None 227 None 9
ENSDART00000136308 None None 173 None 8
ENSDART00000138619 None None 296 None 12
ENSDART00000139289 None None 124 None 7
ENSDART00000139814 None None 226 None 11
ENSDART00000141297 None None 270 None 12
ENSDART00000144370 None None 106 None 7
ENSDART00000144770 None None 144 None 7
ENSDART00000148097 None None 230 None 9

The following transcripts of ENSDARG00000058693 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 10001388)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 11484751
GRCz11 21 11577379
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGAAAGGAGTTCGTGTTGGAGAAAGAGACGACACACTCCCACCAGAATA[C/A]AGATTCAAAGAGGAAGATCTCAAGAAATATCCTCCTCCTCAGAAAGATGT
Long Flanking Sequence:
CTGCTCCTAAAACCATCCCTCCAGGCCCACCACAAACCCCAGATGAGGTATTGTTCCAGAGGAAAATACATTATCATATTAATAAATTAATCTTATTAACCATATCTGTAGCTTATATATAGCTTATACATTTTTGCTGTCTATTGAACCCTATTTTTAAAACTGCTTGGATTCCACTTGAAACGTACAGATCTTTAAACTCTTTCCATTTCTCTCTCCTTTCCTCATACTCGCAGGATCCTTTCAGTGCTTTGGGCGACACTCTTTCTGCCCCAGAACCACCAAAAAAACAACCTGACCTGAAACCTAAGGACATCGTACATGTAATAATGATGTCCAATACAACTGTTCTTTGATTTATTGCTTTCATAAAGATGTCAGTGCTCCATTTCTGAGTGCTAAAAAATTAATATCTAAATGTCTTTCGAGCAGGAGAAGGATGTGACGTCAAAGAAAGGAGTTCGTGTTGGAGAAAGAGACGACACACTCCCACCAGAATA[C/A]AGATTCAAAGAGGAAGATCTCAAGAAATATCCTCCTCCTCAGAAAGATGTAATATGCTCTCACAGTTGTTAGCTTTAACTGAGTTTGGGAATTCAGCTAGTATCGCCATTTCTCTGGAAATTTCCGGTAATGCAAGTGGAAGTTGTTTTAACTGGCGAAACCGCTGTAGCTTTTTTCCTGCTTAACAAAATGTGTCTTTAAAATGCCTTACATAAATTAACACATAGTAACATGTCATTTTTGTGTTACACATTAAGGAATTTGTCAGATTTATCTGTCATGCTTTATTTGCAAATCTTTTTCAATCTTTGCCGGTTTTTAATGCACATTAATATTATATGCTTATATAGGCATTTGGTTCTTTTAATGCAGCTGGTCATGACTGTTAAATACAGTTGAAGTCAGAATTAATAGCCCCCCTGAATTATTAGTCCCCTGTTTATTTTTTTTACCCAGTTTTTGTTTAACAGAGACACATTTCTACACATAATAGTTTTAAT
Associated Phenotype:
Not determined