Busch Lab

ZMP

LOC799259

Ensembl ID:
ENSDARG00000060912
Human Orthologue:
SLC5A7
Human Description:
solute carrier family 5 (choline transporter), member 7 [Source:HGNC Symbol;Acc:14025]
Mouse Orthologue:
Slc5a7
Mouse Description:
solute carrier family 5 (choline transporter), member 7 Gene [Source:MGI Symbol;Acc:MGI:1927126]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa34534 Nonsense Mutation detected in F1 DNA Not yet available
sa21408 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa21409 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa34534
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086304 Nonsense 144 585 3 8
Genomic Location (Zv9):
Chromosome 9 (position 309698)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 149360
GRCz11 9 127929
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCATGGGCGGCCTGCTGTTCATCCCCGCGCTGCTGGGGGAGATCTTCTG[G/A]TCGGCTGCCATACTGTCTGCCCTGGGTAAGAGCCTGCCGGCGGGGGGGAG
Long Flanking Sequence:
CCTGATGCGGTGGAGCATCTTCTCTTACTGTGGGATATTTTACCTCTGTGTGTGTGCTGTGAACTCATATTTCCTACACACACACACACACACACACACTCACTCACTCAGTGTTGTATGTGTTGTGTTGTGCCCTCAGCTACATGGGTTGGCGGTGGTTATATCAACGGGACAGCGGAGTCTGTGTATGTGCCCGGCTGCGGGCTGGCGTGGGCTCAGGCGCCCTTCGGGTACGCGCTCAGTCTTGTTGTAGGTGAGCTGGGGTTACACTTCAGAAATCTCCAGACCTCTGTGATTGGCTGATCTCTCACCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTGCAGGCGGGCTGTTCTTCGCCAAACCCATGCGCTCTCGAGGGTATGTGACGATGCTCGACCCGTTCCAGCAGCTGTACGGCCAGCGCATGGGCGGCCTGCTGTTCATCCCCGCGCTGCTGGGGGAGATCTTCTG[G/A]TCGGCTGCCATACTGTCTGCCCTGGGTAAGAGCCTGCCGGCGGGGGGGAGAATGTGGTCAGTGTGCAGACTGCAGGAGATGAACATGAAGTTATGGAGATCCACACGTCAGCATGTGGGGAAGATGGCGCTGTACTTAACAACATCTCATTGTGGATACGTACCCTTGTCTACATTTCTGGAGATAGTGAAATCTGTACTCAGAGGTACGTCTGGCTGCATTTCGTCTGTGAAGTGAACGCTATGTGGCAGTATGATGTTGCCGACAGTTTCTGCTCCTTTTCGAGCTACCGCTGACTGTTTACCTCTGTATGGAGGTGTTAGCAGTTAGCCCAGTAGCTTGCAGCATACGCCACTGGACTTGGGATGTGGAGCGGACCGCAATGATGAGGTTCAAATCCCGCAAAGAATGGTTCCAGAAAGCAGATAAACAAAAGCAAACAACTGAATAAATAACAAAATGTGGTGAAATCATGCAGCCGTGACGGCTTTTCTTTGCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21408
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086304 Essential Splice Site 374 585 8 8
Genomic Location (Zv9):
Chromosome 9 (position 313390)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 145670
GRCz11 9 124239
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGAAGTCAGGTTTGTCCTCCAGCCTAATGGATTCTTCTGTTTTCTGTGC[A/C]GGCGTCAGACCGAGAGATCGTGTGGGTCATGCGGATCACCATCTTTGTGT
Long Flanking Sequence:
CTGGAATCAGACGTCGTACGGTCCGGTTGCTCCTGTGGACAAAGACGAGTCGGACATGATTCTGCCCATCGTCCTGCAGCATCTCTGCCCGTCATTTGTGTCCTTCTTCGGTTTGGGCGCCGTCTCCGCCGCCGTCATGTCATCCGCAGACTCTTCTATCCTCTCAGCCAGCTCCATGTTTGCACGAAATATTTACCAGCTTGCTTTCCGGCAGTCAGTAAGTCTGTAACACTGTTAACAGTATACCTCGTACATCTTTAAATCACGAAAGTCAGAGTGAGAATAGTTTGATTTAAACCACAAGAAGCAGCGAAAAAGACTAGCAAGTAGATGAGTTCACCTGTCGACTAGTGAGTAGATGAGTTCACCTGTTGATTAATGAGTACCTGAGTTTACCTGTTGACTAGTCAGCTCATGTGTTGTATGTTGACTAGAGAGTAGTTGAGTTTGGGGAAGTCAGGTTTGTCCTCCAGCCTAATGGATTCTTCTGTTTTCTGTGC[A/C]GGCGTCAGACCGAGAGATCGTGTGGGTCATGCGGATCACCATCTTTGTGTTCGGGGCTGTAGCGACGGCCATGGCCCTGCTGACGGGCTCAGTGTACGGCCTGTGGTACCTGAGCTCAGACCTGGTGTACGTCATCATCTTCCCTCAGCTGCTCAGTGTGCTGTTCATCAAGGGCACGAACACCTATGGCTCGGTGGCCGGTTACGTCTTCGGCCTGCTGCTGAGGATCGGCGGGGGCGAGCCGTACCTCCGGCTTCCCCCGTTCATCTACTACCCGGGCTGGCAGATGCGGGAGAAACAGCACCGTCTGACACAGGAGGTGGAGCGGTTCGTGGAGCAGAGATTCCCGTATAAGACGGTCTCCATGCTGGCTTCACTCCTGAGCAACGCTGCCTTCTCATATCTGGCCAAATACCTGTTTGAAAGCGGGACTCTTTCGCCCAAGTACGACTTTCTGGATGCAGTGGTTTCTAAACACAGCAAAGAAACGATGGACAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21409
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
ENSDART00000086304 Nonsense 437 585 8 8
Genomic Location (Zv9):
Chromosome 9 (position 313582)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 145478
GRCz10 9 162588
GRCz11 9 124047
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCTCAGCTGCTCAGTGTGCTGTTCATCAAGGGCACGAACACCTATGGCT[C/A]GGTGGCCGGTTACGTCTTCGGCCTGCTGCTGAGGATCGGCGGGGGCGAGC
Long Flanking Sequence:
TTACCAGCTTGCTTTCCGGCAGTCAGTAAGTCTGTAACACTGTTAACAGTATACCTCGTACATCTTTAAATCACGAAAGTCAGAGTGAGAATAGTTTGATTTAAACCACAAGAAGCAGCGAAAAAGACTAGCAAGTAGATGAGTTCACCTGTCGACTAGTGAGTAGATGAGTTCACCTGTTGATTAATGAGTACCTGAGTTTACCTGTTGACTAGTCAGCTCATGTGTTGTATGTTGACTAGAGAGTAGTTGAGTTTGGGGAAGTCAGGTTTGTCCTCCAGCCTAATGGATTCTTCTGTTTTCTGTGCAGGCGTCAGACCGAGAGATCGTGTGGGTCATGCGGATCACCATCTTTGTGTTCGGGGCTGTAGCGACGGCCATGGCCCTGCTGACGGGCTCAGTGTACGGCCTGTGGTACCTGAGCTCAGACCTGGTGTACGTCATCATCTTCCCTCAGCTGCTCAGTGTGCTGTTCATCAAGGGCACGAACACCTATGGCT[C/A]GGTGGCCGGTTACGTCTTCGGCCTGCTGCTGAGGATCGGCGGGGGCGAGCCGTACCTCCGGCTTCCCCCGTTCATCTACTACCCGGGCTGGCAGATGCGGGAGAAACAGCACCGTCTGACACAGGAGGTGGAGCGGTTCGTGGAGCAGAGATTCCCGTATAAGACGGTCTCCATGCTGGCTTCACTCCTGAGCAACGCTGCCTTCTCATATCTGGCCAAATACCTGTTTGAAAGCGGGACTCTTTCGCCCAAGTACGACTTTCTGGATGCAGTGGTTTCTAAACACAGCAAAGAAACGATGGACAAGACGACGCTGGTCGCCCATGACACCATCCTTCTGTCCGAGCTGTCCGCGGTGAAACCCAGACACACGAGCTCTCTGGCGGGAACATTCATCAATGCAGACGTCTTGAGGGACGAGGGCAGCGTGAGTCCAGATCTTGAGCACGAGTAGAGGAGAGAAAGGAAAGAGGAAGATCCTGAAGACCAGATCCATCAGT
Associated Phenotype:
Not determined