Busch Lab

ZMP

SORL1

Ensembl ID:
ENSDARG00000013892
Description:
sortilin-related receptor, L(DLR class) A repeats-containing [Source:HGNC Symbol;Acc:11185]
Human Orthologue:
SORL1
Human Description:
sortilin-related receptor, L(DLR class) A repeats-containing [Source:HGNC Symbol;Acc:11185]
Mouse Orthologue:
Sorl1
Mouse Description:
sortilin-related receptor, LDLR class A repeats-containing Gene [Source:MGI Symbol;Acc:MGI:1202296]

Alleles

There are 9 alleles of this gene:

Allele Name Consequence Status Availability
sa32030 Nonsense Available for shipment Available now
sa1275 Essential Splice Site Available for shipment Available now
sa22633 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa32030
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011416 Nonsense 1721 2045 37 44
Genomic Location (Zv9):
Chromosome 15 (position 20515887)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 21618513
GRCz11 15 21554245
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCACCAGCACTAACGCAGAAGTGAAGAACCTGCAGCCCAGCTCGCTCTA[C/A]AGATTTAGGGTGAGATGCTCTGAGATCCTGCATGCTGCTGTTTCATGTGC
Long Flanking Sequence:
TAATCAGACATTGAAACATTAATTTGTTTTGTTTTATTTTATTTTGTATAGGATTAAAAAACAAACACCAAAGTTTCTCTCTTAGTTTTTCTCAGTTTCTCTTTCTATAAATTACAGAGCCCAATGCTTTTAAAGGTCAAAAATGGCAAGATTGTTTTCTGTATTTTCACATTAAAAACAACAAATGTAAATATTGCTGCATGTTTTGAAAAAAGACCTAAATATCTGTCATTTTATACTATAAAAAAACTTTTTTTTATTCTGCATTTGTTGTATGAAAAAAATAGGATCTCGCCAGAGTCAGAAGTCAATAACTTGGTTGACATTTTTGGATGAACTACCTTTCTATACTTTCTAGCATTGACCCCACATCCTCTCTAACTGTCTGCTCCGTGTGTTGTACAGGTGGAGTATAGTGAGAAGGACAGTGCAGAGTGGTTTTCTCTGAGTAGCACCAGCACTAACGCAGAAGTGAAGAACCTGCAGCCCAGCTCGCTCTA[C/A]AGATTTAGGGTGAGATGCTCTGAGATCCTGCATGCTGCTGTTTCATGTGCACTTTTGGTTTGTTTCATTTAACCGCTCTTGTTCTGTTATTTCTCAGGTGGCTGCCGTCACAAGCAGAGGCGTTGGAAACTGGACAGAAATAAAGTCTATTATTCCTCAAAAAGGTAATTATGCTGTATAAACCCCATTGCGGAGCACTGGCTCCCCCTGCTGGACATTTACGCTCAAGCATTTTGTCTGATAAGGTTGTTGAAACCAAATACAATAGTCACGTAAATTCCCATTTCAGATTCTGTATTAATGGGTTAATTTGAAAAGAAAACCTTTCATACTAAAAAAGTGCTTACTTGTATAAACTTTGAATGGTAGTTTATCAGTTAATATTCACATGCAATATAATCCAAGTCAAACACTAAAAAATCAATTATATAAATAATCAAAATTGTATATTATGAAATACATATCAATGTCTCAATGACCTCTGCAGAGTAGACCACTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1275
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011416 Essential Splice Site 1747 2045 38 44
Genomic Location (Zv9):
Chromosome 15 (position 20515721)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 21618347
GRCz11 15 21554079
KASP Assay ID:
554-1190.1 (used for ordering genotyping assays)
KASP Sequence:
AGAGGCGTTGGAAACTGGACAGAAATAAAGTCTATTATTCCTCAAAAAGG[T/A]AATTATGCTGTATAAACCCCATTGCGGAGCACTGGCTCCCCCTGCTGGAC
Long Flanking Sequence:
TCACATTAAAAACAACAAATGTAAATATTGCTGCATGTTTTGAAAAAAGACCTAAATATCTGTCATTTTATACTATAAAAAAACTTTTTTTTATTCTGCATTTGTTGTATGAAAAAAATAGGATCTCGCCAGAGTCAGAAGTCAATAACTTGGTTGACATTTTTGGATGAACTACCTTTCTATACTTTCTAGCATTGACCCCACATCCTCTCTAACTGTCTGCTCCGTGTGTTGTACAGGTGGAGTATAGTGAGAAGGACAGTGCAGAGTGGTTTTCTCTGAGTAGCACCAGCACTAACGCAGAAGTGAAGAACCTGCAGCCCAGCTCGCTCTACAGATTTAGGGTGAGATGCTCTGAGATCCTGCATGCTGCTGTTTCATGTGCACTTTTGGTTTGTTTCATTTAACCGCTCTTGTTCTGTTATTTCTCAGGTGGCTGCCGTCACAAGCAGAGGCGTTGGAAACTGGACAGAAATAAAGTCTATTATTCCTCAAAAAGG[T/A]AATTATGCTGTATAAACCCCATTGCGGAGCACTGGCTCCCCCTGCTGGACATTTACGCTCAAGCATTTTGTCTGATAAGGTTGTTGAAACCAAATACAATAGTCACGTAAATTCCCATTTCAGATTCTGTATTAATGGGTTAATTTGAAAAGAAAACCTTTCATACTAAAAAAGTGCTTACTTGTATAAACTTTGAATGGTAGTTTATCAGTTAATATTCACATGCAATATAATCCAAGTCAAACACTAAAAAATCAATTATATAAATAATCAAAATTGTATATTATGAAATACATATCAATGTCTCAATGACCTCTGCAGAGTAGACCACTTGCGTATTATATACTTAGTGTTGATAATGTTTTTTTTTTATAAATGTATGTATACAGTTAATGTATAGATACAGTTACATTAATATGCTTAGGCAATATAATCAGTCAAATCTCACAAAATCAGTTATATAAATCATCAAAATTATATTTTATTAAATATATATCTAT
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

Mutation Details

Allele Name:
sa22633
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011416 Nonsense 1778 2045 40 44
Genomic Location (Zv9):
Chromosome 15 (position 20513878)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 21616504
GRCz11 15 21552236
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAGGCATTATTAAAATATTTAACTCGCTTTCTGTTAGGTGAAGCTCTA[T/A]ATTGTAGTAATTTCTTGGGTATTTGATGAACATGTTAAGGAGAGCTGGAA
Long Flanking Sequence:
GAGATTTAAAAACAAGCTGCATACTAGTATCTTGATAAAATATGTAATTAAATATTATTTACTGTCATCATGACAAAATTATTAGAAATGAGCTATTAAAACTATTATGTTTAGAAATGTGTTGAATAAATGTTCTCTTCATTAAACAGAATTCTTCAAAAATGCACTTCAAAAATGTATAGGGGGCTAATAATTCAAGAGGGCAAATAATTCTGACTTCAACTGTATATACAGTTAAAACATATTACTCTTTACATCACACATATTAGTGTCTATTTTACTGTTTAGTAATCATGTATATTTGAATGTCTTTCAGCGCTCTCTCCACCTAAAGTGACGATCACCAGCATCACAGAAGACTCAATGAGTTTGTCCATCTCTAATGATTATAAGGTGAAGGTTAGTCAGTTTGCTGTTTCACTGATTTCTCTTGATTCGTCTATGTCCACCTTCAGGCATTATTAAAATATTTAACTCGCTTTCTGTTAGGTGAAGCTCTA[T/A]ATTGTAGTAATTTCTTGGGTATTTGATGAACATGTTAAGGAGAGCTGGAATTACACGGTCCCAGAAACACTGAAAGGTAAAACACTTAAAAACTCGTCATTAGGACCTCCTGTCAGCATTTCTAAAAGAAGATAGAAAGCGTGTGCTGTTTTCTGTGCAGTCTCTAACCTGACAGCAGGGACGGAGTATGAGGTGGCGGTGTGGGCTCACACTGATGATGGAGACAGTCCTACAGCCCTGTCCCGCCAGCAGACTAAAGGCAGCAGACCTGTCCAACCCTCACTAAAGGCCAGAGCCCTCAACCAGACTGCTGTAGACTGCAACTGGACTGGCCCGCCAGCAGAGGTTAGACTGTCTCCATCTAGTCATGATTTCAGTAATCCTATCACTAGTGTTTATATGGATACCTCACTGTTTCTATCTGGTGTTAGCATGAGTATGATAATGTCTCTTGTGATCATTTGTATTTTGATCTCTTCAAGGCACATACACTTTTATTT
Associated Phenotype:
Not determined