ZMP
SORL1
Ensembl ID:
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 |
---|---|---|---|
sa6374 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa6373 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa45536 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa32030 | Nonsense | Available for shipment | Available now |
sa1275 | Essential Splice Site | Available for shipment | Available now |
sa22633 | Nonsense | Available for shipment | Available now |
sa774 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa6374
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000011416 | Nonsense | 323 | 2045 | 7 | 44 |
Genomic Location (Zv9):
Chromosome 15 (position 20561876)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 21664502 |
GRCz11 | 15 | 21600234 |
KASP Assay ID:
554-4269.1 (used for ordering genotyping assays)
KASP Sequence:
AACTCGATGTRAACGTGTTTCCACAGGCATTATTGGGGAGCCACGAGTCT[C/T]AGTCTGTYCAGCYCTGGGTTTCTTACAACYGACAGCCAATGAGAGCAGCT
Long Flanking Sequence:
TTTTTCATAGTCCATTCATCATATTGTTCTTATTATATCAATGCTGAAATAAAACAATTAAAAATAAGTTTAATCACTTTTTTTATTGAAAAATTGCTCAATTATTATTATTATTATTATTATTATTTCATGTTCATTAAAAAGATTTTTACTTTTACGTGTTTATTTATTTGTTTTTACTCTGAGGATATGTTTGTTTTTAATTCATAAATTCTGTGTATTTTATTTTTAGGGGAAAGTTTGAAAATAATAAAACTAAGACAGTCAATAATTTGTCCTATGTTGTATTTTATACTACTATGTATGATCTTGTTTAACACCAATATAAAAATAAATAAATAAATTAGAACAAATATAAATATTTTAAAAATAGTTGTATTGTTATTTTATCTAAAAACATGACAAATTCTAATATTATATGGTATCAAGTTTGTTTTATTTATGATTGATAACTCGATGTAAACGTGTTTCCACAGGCATTATTGGGGAGCCACGAGTCT[C/T]AGTCTGTCCAGCTCTGGGTTTCTTACAACCGACAGCCAATGAGAGCAGCTCAGTTTAACACCCGTCACCCAATCACAGTAAGCTCCATCAGCTTCCTTTACTTTCCCATGGATTTATTCTTTTTAAAAGCTTCATTTTGTTTGCCTATATTTATGTTATTCTCTGCTTTTCTCTGTCTGCAGGAGTACTACATAGCAGACGCTTCAGAAGACCAGGTCTTTGTGTGTGTGAACCACAATAATAATGTCACACACCTGTATATCTCAGACACACAGGGCCTGTCCTTTTCCCTGTCCCTGGAGAATGTGCTGTACTTCAGCCCTGATGGATCAGGAAGCAACACTCTTATCAGGTACGTTTTAACACTGGTGTGTTTGTTTTGCAGGTCCATAGACACTAGCACAGCGAAGTGTATTTACCCAAACAGGACAGCCATATGTTGGTTTGGGAGCAACATTTGTGTTAAGCCATCATATCACTAACCCTATTCCTAAATTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6373
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000011416 | Nonsense | 333 | 2045 | 7 | 44 |
Genomic Location (Zv9):
Chromosome 15 (position 20561846)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 21664472 |
GRCz11 | 15 | 21600204 |
KASP Assay ID:
554-4926.1 (used for ordering genotyping assays)
KASP Sequence:
TATTGGGGAGCCACGAGTCTYAGTCTGTYCAGCYCTGGGTTTCTTACAAC[C/T]GACAGCCAATGAGAGCAGCTCAGTTTAACACYCGTCACCCAATCACAGTA
Long Flanking Sequence:
TATTATATCAATGCTGAAATAAAACAATTAAAAATAAGTTTAATCACTTTTTTTATTGAAAAATTGCTCAATTATTATTATTATTATTATTATTATTTCATGTTCATTAAAAAGATTTTTACTTTTACGTGTTTATTTATTTGTTTTTACTCTGAGGATATGTTTGTTTTTAATTCATAAATTCTGTGTATTTTATTTTTAGGGGAAAGTTTGAAAATAATAAAACTAAGACAGTCAATAATTTGTCCTATGTTGTATTTTATACTACTATGTATGATCTTGTTTAACACCAATATAAAAATAAATAAATAAATTAGAACAAATATAAATATTTTAAAAATAGTTGTATTGTTATTTTATCTAAAAACATGACAAATTCTAATATTATATGGTATCAAGTTTGTTTTATTTATGATTGATAACTCGATGTAAACGTGTTTCCACAGGCATTATTGGGGAGCCACGAGTCTCAGTCTGTCCAGCTCTGGGTTTCTTACAAC[C/T]GACAGCCAATGAGAGCAGCTCAGTTTAACACCCGTCACCCAATCACAGTAAGCTCCATCAGCTTCCTTTACTTTCCCATGGATTTATTCTTTTTAAAAGCTTCATTTTGTTTGCCTATATTTATGTTATTCTCTGCTTTTCTCTGTCTGCAGGAGTACTACATAGCAGACGCTTCAGAAGACCAGGTCTTTGTGTGTGTGAACCACAATAATAATGTCACACACCTGTATATCTCAGACACACAGGGCCTGTCCTTTTCCCTGTCCCTGGAGAATGTGCTGTACTTCAGCCCTGATGGATCAGGAAGCAACACTCTTATCAGGTACGTTTTAACACTGGTGTGTTTGTTTTGCAGGTCCATAGACACTAGCACAGCGAAGTGTATTTACCCAAACAGGACAGCCATATGTTGGTTTGGGAGCAACATTTGTGTTAAGCCATCATATCACTAACCCTATTCCTAAATTTTTTTTTTGTTATTGTCTTCAATAGTTTTGACC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45536
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
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 | 1595 | 2045 | 34 | 44 |
Genomic Location (Zv9):
Chromosome 15 (position 20518718)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 21621344 |
GRCz11 | 15 | 21557076 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCCTAAAAATATGCCTACATCCTCCTGTTCTTTTGTCATCTACTTCAGG[T/A]AAAGCAGGGACTGGATAAATCTATCCTTTTTTAATTTATATTTTTAAGTT
Long Flanking Sequence:
ATGAAAAGGGACATTTTATCTTCCTTTTAAGGATAAATATGAAAGTCTTAAAAATTAATTCAGAAAAAATTGCATTGTTACACTACCTTAAGCTTTACCTATTTTACTCTCCATTGTATTTCAGCCACTCATGGCCCTCTGCTCTGTGCGAATGGTACGCGGTGTGCAGACGGCGAGGCCTGTTTGCTGAACAGCGAGAGGTGTGATGGTTTTATAGACTGCTCTGACCGAAGTGACGAGCACAACTGCACTGGTGAGACACTGAGAGACGTTCATCACGTCTTTGCAGTGCTGGAAATCTGCTGCACTGGAGCACATTAAACTGACGGTCTGCCTGTTCATGCTGATTCACCCTGATTTTGCATTTCCCAGATGAACAGCAGGTCTACAAGGTTCAGAATCTACAGTGGACTGCCAATTTCTCTGGAGCTGTCAAGCTTACATGGACAAGGCCTAAAAATATGCCTACATCCTCCTGTTCTTTTGTCATCTACTTCAGG[T/A]AAAGCAGGGACTGGATAAATCTATCCTTTTTTAATTTATATTTTTAAGTTACATTTTAGTTGTCATTTTTCTTTCTTTTTATTTATTTATTTATTTCTATTTTCTTTTATTTATTTTATTTTATTTTATTTTTATTTAATTATATTTATATTTTTTATTTTTATTTCTTTTATTGTTTAGTTTTATCTATTTTTCTTTTTCTTTTTGTTTTTATTTTCTTTTATTTATTATTATTATTATTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTGTCTATTTACTTTTTAATTTATTTTCTTTTTTATTTATTTTTATTTATTTTCTTTTGTTTTCATATCAATTTTATTTATTGTTTCCTCAATTTTATATATTTATATATATTTAATTTAATTGTATAATATTTTAAAATAATTTTTATAAATTATTTTACAATTTCTTTTAGTCTCTTTTTATTATTTCAGTTACATATATTTAGTTCTTAAGAATAGATTGCATATAA
Associated Phenotype:
Not determined
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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
Mutation Details
Allele Name:
sa774
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000011416 | Nonsense | 1919 | 2045 | 43 | 44 |
Genomic Location (Zv9):
Chromosome 15 (position 20510313)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 21612939 |
GRCz11 | 15 | 21548671 |
KASP Assay ID:
554-0679.1 (used for ordering genotyping assays)
KASP Sequence:
GTTGTTTAGGTGCGAGTGGTTTCTCCATACATGGGTCCTCCATCAAACTA[T/A]GCTGTAGTGAAGATGATCCCAGATGAGCGCCTTCCACCTCGTAACCTGCA
Long Flanking Sequence:
TGAGATGTTTGCATCACGGTATGTTCTAGGGATGGGATTTGCGTGACGCGCTGAGAGCTACTAGCCCGGCAGTAGAAACGCGACATGATTTGAGCCTCACTACTCAACCTCCCTAGCGATTGGCCCATCCTGGCCCGATAAAATCCCTGGCTTGCACTGGCCCGACAGTGGAAATAAAGCTATTGATCCTGCAGACTTTTCCAGTTTCATTTGTGACCAGACCTTTGAGCTAAAAATTATGTTTTTATTTTTCCACAGATGTACGCTGTGTTCTACGCAACCTCATTCCTGGATCTGTTTCGCAGACCTCACAGGGTGAACAGCACATCTAGCAGTCTAACTGTGATTGTTGACAGCGATGAGCAGTACCTTTTCCTGGTTAGTGTCCATCCTTCTGCTGCTCACTCGTCCATCCACTTTAACACCCAGATGAATTAATCAAATGTGTGTGTTGTTTAGGTGCGAGTGGTTTCTCCATACATGGGTCCTCCATCAAACTA[T/A]GCTGTAGTGAAGATGATCCCAGATGAGCGCCTTCCACCTCGTAACCTGCACAAAGTGCGAGTGGATAAAACGCAGGCCACTCTGAAGTGGCAGCCGCCGTATGATTCTCCCAGCAGTCCTTTGGTACATCTACATAGCTTTGCATGAAGTTATTTAATATTGTCAAATGAATTGTTTTAATCATATGTATTCTATATACCAGACATATGCTGTGCATGTGAGAGATACAGTTCGAAAAACCGAGAGCGACTATAAAGTGATCACTCAGAATAACACAGTGGAGTACACACTGAAGGGCCTGGAGCCGGCCGGACGCTACAGCATCACCATCAGACTGCTCAACATGAGCAAAGAAGCCAGCTATACACTCAGCACAGGTACAGCCATCTCTCTGATATTGTTTTTGTATGAAAATGTTGCATCACACATTATATTTATAGTCCTGCTCCATGTAGACTAAATCTCAGGGCATAGAATTAGAATTAAGATGCATTTTTGTC
Associated Phenotype:
Not determined