Busch Lab

ZMP

LOC100003376

Ensembl ID:
ENSDARG00000061566
Human Orthologue:
SLC7A3
Human Description:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 [Source:HGNC Symbol;A
Mouse Orthologues:
AU018091, Slc7a3
Mouse Descriptions:
expressed sequence AU018091 Gene [Source:MGI Symbol;Acc:MGI:2142124]
solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Gene [Source:MGI Symb

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa6349 Nonsense Mutation detected in F1 DNA Not yet available
sa22503 Essential Splice Site Available for shipment Available now
sa16407 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa6349
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
ENSDART00000087918 Nonsense 171 642 2 11
Genomic Location (Zv9):
Chromosome 14 (position 31758678)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30548735
GRCz11 14 30889049
KASP Assay ID:
554-4657.1 (used for ordering genotyping assays)
KASP Sequence:
AAATGTGTTGGCAAAATATCCAGATGTGTTTGCCCTGATCCTAGTCATGT[T/A]GCTCACTGGTGAGAACCCTTTTGTTTCTGTTTAAGACCCTGTTTACAACT
Long Flanking Sequence:
CACAAAATAATCGATAGAGTATAACATGAAATGATTTGTCTATACAATATATATTGTCATATCGCACAGCTCTACATTTAAGTGTTGTTTAGGCTAAAAGGACTTTTTCCCTTTTGAATCCGAATATACTCATTAATCATCTCCCAAGTGTTAATTCCGAATGCCAAGACCAATTATATCTGATCACAAATGAGCTGAAGTGGTTTTGAAATGGTTTGAAGTGTTTACTCCTCTGGTCTAAGGGGCTTTGGAGTGTCTGCTTAAGTTTAACACAACAACTGGATGTTCTGAAGTCTTTTGCATCTGCTAATAGTGTCATATGATATTTTTTTTCTCATTTTTTAAAGGCACAGCTAGTGTGGCACGAGCTTGGAGCGCCACTTTCGACAGCCTGTTGGCACAAAAGATCTCCACTTTCTTCAAAGCCTTCATGTCCTTTCCAGACACTCAAAATGTGTTGGCAAAATATCCAGATGTGTTTGCCCTGATCCTAGTCATGT[T/A]GCTCACTGGTGAGAACCCTTTTGTTTCTGTTTAAGACCCTGTTTACAACTCTTATCGAGATTTAATTTTCAGCAGTCCGATCACAATTTGATGACGGGTAGTTGGGGGCCAAATGTTTTGAATTTGTTCATTTGTTCATCAAAGGCATTTAGAGAAAGTGCATTTCACCAGATTACTTTTGTAGTGTAGACTCTTATCGGATTGAATAAATTGAAACCGCAACTTAAGACCACCGACTCTGAGCCTCTGATCTCATCCTGAAACATTAGGGGACGATTCGCTGAAAACTAAACCCACAGTATTCTGTGTAGTTTTGCGGCTGAAGCTAAAGCTGCAGCTCCCAGAATTGCTTCGCATGGTCTCCTTTTGCATTCGTATGTTATTTTTGTATGTTTATTTCATGATATTACATCAGAAAAAGTCAGTGCACATGAACCCTACCCTAAAAAAGTTGTGGAAAATGGTTAATAGTGTCTAGCTCATTCATAGCAGACATAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22503
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
ENSDART00000087918 Essential Splice Site 392 642 6 11
Genomic Location (Zv9):
Chromosome 14 (position 31754887)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30544944
GRCz11 14 30885258
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAACCAAAACTCCTGCCCTGGCAACACTTGTGTCTGGTATTGTAGCAGG[T/G]AAGACTGCACTATTATTAATTTGTTCATGCAATTAATGTCAAGAGATGAT
Long Flanking Sequence:
GATTTGAAACAAATTTAAGTAAAGAGCCGTTAAATTTTTTTAAAGCAAGAGTGGTAAAGCAAACACAGCGCCCCTCAGTTCAAAACATGTATTGCGATTCATTCAACATTTCAACCAGGTTGAACCATCACATATTTGAATCGATTTTCAACCGTCTCACCGTGAATCGTTACATCCCTAATCAGCAGTAACATCTACACTTATACTTGTATTATATTATATGAATTTTACTTCATTATTAAACTGAAAATGTTATTGATTACAGCTAAACAATGACACTCTTGTATTTCCACAACTGCTTTATTGATCTTAATCATATAAAGTGCTGAAAATAAGGGTCTCTTTTTGTTGTTTTTCAGCTTGCTGGGCTCCATGTTCCCTATGCCTCGTGTGATTTATGCCATGGCTGAAGATGGTCTGCTTTTTCGATTTCTCTCTCGGATGCATAAGAAAACCAAAACTCCTGCCCTGGCAACACTTGTGTCTGGTATTGTAGCAGG[T/G]AAGACTGCACTATTATTAATTTGTTCATGCAATTAATGTCAAGAGATGATTATTTTAATTAAAATTCTCCTTCGCTGTAGCTCTGATGGCCTTCCTGTTTGATCTCGATGCTTTGGTAGACTTGATGTCGATTGGGACCCTGCTGGCATACACTCTGGTGGCTGTGTGTGTTCTTATTCTTCGGTGTGTGTATATGTACAGTACTGTCCTTTTTAAAAGTTTGGGCTAGAATAGAATATACCCTCTTTTTTGGCACCAATTGCCTGGTGGTCAGTGTGTCGATAAATAGCTCAACTGTCAAGTTTAAGTCTTTCAGTTTTCCAGATCACAGGTCTCCACTTCAAAAGCAAAATATCTTAAATGGATCTATAAAAGAATCGACTCTCTTTGTAGAGTGTTAGTTTGCTGCTGAATCTGTATTTGTAGAATAGCTTTGCCAAATTTTATGACATTCACCTCTAGAGATTTATTATTTTTTATTTATCTTTTTTATTTATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16407
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087918 Essential Splice Site 503 642 8 11
Genomic Location (Zv9):
Chromosome 14 (position 31752938)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30542995
GRCz11 14 30883309
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCCACCAAGATTTCAGGCATCATTGTTTACTCTGCGTGYGGCACCATATG[T/A]AAGCATTTCATTAAATCAGTCTTTTTCTGAAACCTAGAATTAAAATTGAG
Long Flanking Sequence:
ACAATAGGGTTAGCAAAATAGTCTTATGTCAAAATGAAAAACAAAATTATTTTGCTTACCCCATTGGCAGATTATTTTTCTTGTTTTAGGGAAAGTCTTAGCATTTTATTTCTCAAAACAAGAATTTTTCTTTTGCTAACTTGCTAATATTTACTTCACAATTGTACTATTATTTTTAACAAATAAGTGCAGTCTTATTACTTATGATTTCCTTAAAAACATGAATGTTTTTGTTTCAAAATTTAAGATTATTATTGTTTAATCCACAGGTATCAGCCGAGCAGGCTTGGGTCCAGCGGTGCAGATGTGAAGCCTGTGGAGCTCCAGAGGCTGGAGGCTAAAGCAGTCATGGATGTGGACAGTGGAGATGAGTACAGTCAGGATATGGAGACGATACCTCTTAAAAAAAGGTTTTCCATAAGGATGCTTGTGCAGCCCATATGTGATGTACCCACCAAGATTTCAGGCATCATTGTTTACTCTGCGTGCGGCACCATATG[T/A]AAGCATTTCATTAAATCAGTCTTTTTCTGAAACCTAGAATTAAAATTGAGACTTTAAAACGTTGTTCAGAAAGTGAAAAGAGTAATGGTTCTCTTCTGCTCCTCAGCCGTGTTGTTCACGCTGCTGTGTTTGGTGCTGTCGGTGTGCTTGGAGCAGGTGGCTATGGGTCACCCTCTTTTTATCTGTTTGGTTGTTCTCCTGTCGGTTCTGTCCACTGTCTGCATCGTCGTCATTTGGCGCCAGCCCCAGAGCAAAGAGGCTCTCACTTTCAAGGTACAGACTTAAATGTGGAGCTTTGTAAAATCAACAATCTTTAGGTGGTTATAGTAACCTCTCTCTGCATTTTGTAGGTCCCTTTGCTTCCCATTCTCCCATTGATCAGCATCTTTGTAAATATTTACCTCATGATGCAAATGAGTGGAGCGACGTGGATTCGTTTTGCAGTATGGATGGCAATTGGTGAGTTAATGCTAGTGGTGTGACGGATCACAAATCTCACA
Associated Phenotype:
Not determined