ZMP
NPC1L1
Ensembl ID:
Description:
NPC1 (Niemann-Pick disease, type C1, gene)-like 1 [Source:HGNC Symbol;Acc:7898]
Human Orthologue:
NPC1L1
Human Description:
NPC1 (Niemann-Pick disease, type C1, gene)-like 1 [Source:HGNC Symbol;Acc:7898]
Mouse Orthologue:
Npc1l1
Mouse Description:
NPC1-like 1 Gene [Source:MGI Symbol;Acc:MGI:2685089]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa74 | Missense | Confirmed mutation in F2 line | Not yet available |
sa19867 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa19868 | Nonsense | Available for shipment | Available now |
sa6862 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa16090 | Essential Splice Site | Available for shipment | Available now |
sa10849 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa74
Status:
Confirmed mutation in F2 line
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 > C
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064027 | Missense | 99 | 1081 | 1 | 15 |
Genomic Location (Zv9):
Chromosome 2 (position 46965353)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 40512773 |
GRCz11 | 8 | 40552338 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGTTCTGATCCGCTGCCCGTCCTGTGCCGAGAACTTTGCGTATCTCCAT[T/C]GCGCCACGACCTGCAGTCCTGACCAAAGTCAGATATTGAAGATCACCAAA
Long Flanking Sequence:
AACTTAAAAACAATATTTTTTAGCATTTGAAATGTGTAAATTTTGGTAGCAAGAGAAACTTATGTGGTTTTAATGCTGTCCAATTTATTGTTCATTTTGAGTGATAAAGAGTCAGAGATACGGTATAAGACACTTGACTAAACGACAGATTGTGTTATCTTTATTTATCTTCTATCTCTCATCTATTGCAGGTTCTCACAGGTGCTCAGCATGAACCAGGCTTCTGCGCAATGTATGAGGACTGTGGGTTAAATCCCGCAGTGGAAGGGGCTCTTATCCCCCCAAGAGTTCCCTGTAAGGACTACAGAAGAGCAGTGAATGTGACAGGAGACCACTATGAGCTTCTGAAATCTGTATGTCCAATGCTGGCCAATGGCGATGGCCAAACATTGGCCTGCTGCTCCATCAGGCAACTCACAGCTCTGCAAAACAGCCTGTCGCTCTCCAAAGCCGTTCTGATCCGCTGCCCGTCCTGTGCCGAGAACTTTGCGTATCTCCAT[T/C]GCGCCACGACCTGCAGTCCTGACCAAAGTCAGATATTGAAGATCACCAAAACGGCCAACATCACTCAACCCACAGGCATTGTAAAAGAAGCCGTGGTGGGTTACGCAGCGTATATATCCACTAACTTCTCTGATGCCTCGTTTGACTCCTGCAAAAATGTACGAATTCCATCCACCGGAGGGTTTGCCATTGCCACAATGTGCGGCCGTTATGGTGCAGCACTCTGTACGCCACAGCGCTGGTATGATTTTCAGGGCGACTCCAGCAATGGATTGGCTCCGCTGGATATTGACTTCAAGCTTTTACAAGACAGCGAGACCTCTGAAGTCCCAGCAGGAGCATTTGCGTTTGCAGGACAAGCGTTAAAATGCAATGAAGTCACACCTTCCGGTGGCGAGGCCTGTTCCTGTCAGGACTGCCTACAATCTTGTCCGGTGGTGCCAGAACCACCGCCTCTGCCGAAACCCTTCATGATTGGTAACCTTAATGGGGTGCTTGTC
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:
sa19867
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064027 | Nonsense | 111 | 1081 | 1 | 15 |
Genomic Location (Zv9):
Chromosome 2 (position 46965390)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 40512736 |
GRCz11 | 8 | 40552301 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCGTATCTCCATTGCGCCACGACCTGCAGTCCTGACCAAAGTCAGATAT[T/A]GAAGATCACCAAAACGGCCAACATCACTCAACCCACAGGCATTGTAAAAG
Long Flanking Sequence:
AAATTTTGGTAGCAAGAGAAACTTATGTGGTTTTAATGCTGTCCAATTTATTGTTCATTTTGAGTGATAAAGAGTCAGAGATACGGTATAAGACACTTGACTAAACGACAGATTGTGTTATCTTTATTTATCTTCTATCTCTCATCTATTGCAGGTTCTCACAGGTGCTCAGCATGAACCAGGCTTCTGCGCAATGTATGAGGACTGTGGGTTAAATCCCGCAGTGGAAGGGGCTCTTATCCCCCCAAGAGTTCCCTGTAAGGACTACAGAAGAGCAGTGAATGTGACAGGAGACCACTATGAGCTTCTGAAATCTGTATGTCCAATGCTGGCCAATGGCGATGGCCAAACATTGGCCTGCTGCTCCATCAGGCAACTCACAGCTCTGCAAAACAGCCTGTCGCTCTCCAAAGCCGTTCTGATCCGCTGCCCGTCCTGTGCCGAGAACTTTGCGTATCTCCATTGCGCCACGACCTGCAGTCCTGACCAAAGTCAGATAT[T/A]GAAGATCACCAAAACGGCCAACATCACTCAACCCACAGGCATTGTAAAAGAAGCCGTGGTGGGTTACGCAGCGTATATATCCACTAACTTCTCTGATGCCTCGTTTGACTCCTGCAAAAATGTACGAATTCCATCCACCGGAGGGTTTGCCATTGCCACAATGTGCGGCCGTTATGGTGCAGCACTCTGTACGCCACAGCGCTGGTATGATTTTCAGGGCGACTCCAGCAATGGATTGGCTCCGCTGGATATTGACTTCAAGCTTTTACAAGACAGCGAGACCTCTGAAGTCCCAGCAGGAGCATTTGCGTTTGCAGGACAAGCGTTAAAATGCAATGAAGTCACACCTTCCGGTGGCGAGGCCTGTTCCTGTCAGGACTGCCTACAATCTTGTCCGGTGGTGCCAGAACCACCGCCTCTGCCGAAACCCTTCATGATTGGTAACCTTAATGGGGTGCTTGTCATCTGCCTCACAGTCTTCTCTTGCTTCCTTTTTCTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19868
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064027 | Nonsense | 240 | 1081 | 1 | 15 |
Genomic Location (Zv9):
Chromosome 2 (position 46965776)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 40512350 |
GRCz11 | 8 | 40551915 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGAAGTCACACCTTCCGGTGGCGAGGCCTGTTCCTGTCAGGACTGCCTA[C/T]AATCTTGTCCGGTGGTGCCAGAACCACCGCCTCTGCCGAAACCCTTCATG
Long Flanking Sequence:
TGCAAAACAGCCTGTCGCTCTCCAAAGCCGTTCTGATCCGCTGCCCGTCCTGTGCCGAGAACTTTGCGTATCTCCATTGCGCCACGACCTGCAGTCCTGACCAAAGTCAGATATTGAAGATCACCAAAACGGCCAACATCACTCAACCCACAGGCATTGTAAAAGAAGCCGTGGTGGGTTACGCAGCGTATATATCCACTAACTTCTCTGATGCCTCGTTTGACTCCTGCAAAAATGTACGAATTCCATCCACCGGAGGGTTTGCCATTGCCACAATGTGCGGCCGTTATGGTGCAGCACTCTGTACGCCACAGCGCTGGTATGATTTTCAGGGCGACTCCAGCAATGGATTGGCTCCGCTGGATATTGACTTCAAGCTTTTACAAGACAGCGAGACCTCTGAAGTCCCAGCAGGAGCATTTGCGTTTGCAGGACAAGCGTTAAAATGCAATGAAGTCACACCTTCCGGTGGCGAGGCCTGTTCCTGTCAGGACTGCCTA[C/T]AATCTTGTCCGGTGGTGCCAGAACCACCGCCTCTGCCGAAACCCTTCATGATTGGTAACCTTAATGGGGTGCTTGTCATCTGCCTCACAGTCTTCTCTTGCTTCCTTTTTCTTTTCCTGTGTTACGTGATTACCGAGTGCACGACTTACTACATGAAGTCGAGGAAGGGTCGGAAGGGTAAGAGCACCAAGGATCAAAACGCAAATGAGATCAAATTTAAAATCAGCCCTAAAGATGTTTCGTGCTCTGACAAAGCCAGTCTTGCCACTCAGGAATTCCTAGGGTCTCTTTTCCAGTCCTGGGGGACCTTAATGGCACGGTATCCCTACATAGTGCTTCCGGTCTGCCTTGTGATTGTGCTGGTGTTTGCGGTGGGAATAAAGGACATAGAACTGACCACAGATCCCGTCCAGCTCTGGTCAGCACCTGAAAGTCGCGCCATGCGGGAGAAGGCCTTCCACGATGCTCATTTCGATCCGTTTTACCGCACCAATCAGCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6862
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064027 | Essential Splice Site | 318 | 1081 | 2 | 15 |
Genomic Location (Zv9):
Chromosome 2 (position 46966047)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 40512079 |
GRCz11 | 8 | 40551644 |
KASP Assay ID:
554-5403.1 (used for ordering genotyping assays)
KASP Sequence:
AATCAGCCCTAAAGATGTTTCGTGCTCTGACAAAGCCAGTCTTGCCACTC[A/G]GGAATTCCTAGGGTCTCTTTTCCAGTCCTGGGGGACCTTAATGGCACGGT
Long Flanking Sequence:
CACAATGTGCGGCCGTTATGGTGCAGCACTCTGTACGCCACAGCGCTGGTATGATTTTCAGGGCGACTCCAGCAATGGATTGGCTCCGCTGGATATTGACTTCAAGCTTTTACAAGACAGCGAGACCTCTGAAGTCCCAGCAGGAGCATTTGCGTTTGCAGGACAAGCGTTAAAATGCAATGAAGTCACACCTTCCGGTGGCGAGGCCTGTTCCTGTCAGGACTGCCTACAATCTTGTCCGGTGGTGCCAGAACCACCGCCTCTGCCGAAACCCTTCATGATTGGTAACCTTAATGGGGTGCTTGTCATCTGCCTCACAGTCTTCTCTTGCTTCCTTTTTCTTTTCCTGTGTTACGTGATTACCGAGTGCACGACTTACTACATGAAGTCGAGGAAGGGTCGGAAGGGTAAGAGCACCAAGGATCAAAACGCAAATGAGATCAAATTTAAAATCAGCCCTAAAGATGTTTCGTGCTCTGACAAAGCCAGTCTTGCCACTC[A/G]GGAATTCCTAGGGTCTCTTTTCCAGTCCTGGGGGACCTTAATGGCACGGTATCCCTACATAGTGCTTCCGGTCTGCCTTGTGATTGTGCTGGTGTTTGCGGTGGGAATAAAGGACATAGAACTGACCACAGATCCCGTCCAGCTCTGGTCAGCACCTGAAAGTCGCGCCATGCGGGAGAAGGCCTTCCACGATGCTCATTTCGATCCGTTTTACCGCACCAATCAGCTGATCTTGACGGCTCCAGGCCGGCCCAGCCACTTCTATGACTCCTTACTCTTTGGCAAGCAGAACTTCAGTGGCATCATCTCCAAAGGTGATTTTTATTTACTCGGTGGTGAAAATAATCAGTGCTACAGCTACACTATTAGTACAAATAATAATAATTGTGATTCAAATAATGACCTAATTGGTAGAAAACTCTTGTCCAGAAGGGCCACTGTCTCTCATCCCCAATCAATATACTATGATTCTCTGTAATTGTCAGGTAATCTACATTTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16090
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064027 | Essential Splice Site | 422 | 1081 | 3 | 15 |
Genomic Location (Zv9):
Chromosome 2 (position 46969093)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 40509415 |
GRCz11 | 8 | 40548980 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATATAAGATTTCAGTCATTTTAAATATATTGTGMATGTTTCTACCTTGC[A/C]GATTTGATCATAGAGCTGTTRAAGCTTCAGCAGAGCATCCAAGCAATTGA
Long Flanking Sequence:
CATCATTTCATTACATGTTCTGTACCCTGCATTCTGAAATAATACTTCACAGCAAGCTTAAACAATCTGAAGCATTAATTGTGATCAGAAAACACCTAGATAATAAAACAACAAAACAAAATTGACAATTTTAAGCCAATAGCAAATGGCTTATGTGATTGTTTATTGAGTTCATGAATTCAATTGTCAGTCTAATTTAGTAACTGACACAGAAAATAACCCACTTAAAAATGCTCAAACTTAAGTTTTGCAGTGTCACAGTGCTCTCATAACCAGGAACATGTAAATTGTTAAGTGTAGCTTCCGTCATTTTAGATTATAAATCAGAATCACTGGTTGTTTTAATAGCAGCCCTTTTTATTAACATAAACAATCACAATTCAAACTGTTCCAATGTCAGTTTATCCTTTTCTTAAAATTTTGCGTTTAAGATTGTTTTCTGTCTACCTAAATATAAGATTTCAGTCATTTTAAATATATTGTGCATGTTTCTACCTTGC[A/C]GATTTGATCATAGAGCTGTTAAAGCTTCAGCAGAGCATCCAAGCAATTGAGTTCTGGTCAGATGAACTAAACAGTACCGCCAGCCTTAAGGATGTTTGCTATGCGCCACTCAACCCAGGCAACCCCTCGTTAACCGACTGCGCTGTCAACAGTCTGCCGCAGTACTTCCAAAATAGCATCGACAACCTGAATGCCAAAGTGAACATGACAGAGCTTGGTGTGACTAAGGAAGTGGACTGGCGGGATCATTTCATCTACTGTGTTAAGTAAGTCAGGTAGATTTATGTCTGTAGTTATATTTACTGCATTACTTTCTGAGCATTTTTCAACTTTTTTGTTTGTATCACCATTTCATGTTTGCATGTATCATATATTCTATCATATATTGTGCCTAAGCGCACAATAAAGTCTGAATTAATTGCCTCAAAGGGATTAATTGTTATACCAGTATTTTGTATTAAGTACTGCAACTCTTTGAGTGAGCCACACTGCAAAAAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10849
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 |
---|---|---|---|---|---|
ENSDART00000064027 | Nonsense | 1008 | 1081 | 13 | 15 |
Genomic Location (Zv9):
Chromosome 2 (position 46984922)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 40493614 |
GRCz11 | 8 | 40533189 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCAACAGATTTCTGCCAGATTTTCTGAGCAACAGACCTGACCTGCAGTG[T/A]CCAAAAGGGTAAGAAAAGCAAATTAATTAAGTCTGAACCAACTGAACACT
Long Flanking Sequence:
CTTATAAAAAAAACATCCCATAATGTAAATAAGCTGTCTTTAATAAGAATATGTCAATAACTCAATTTTGACAAATATGTCAGATAGAACCTTATCATTCTAAGGTTTACTTGCAGGATTTTCTTCTAAATGTTTCTGATTTTTTAGATCTTATCTGGCTATCCCAGCATCCTCTTGGGTGGATGACTATATTGACTGGCTGAACCCTGGATCCAGATGCTGTCGCCTTTACACATTTGGTCCAAACAAAGATGAATTTTGTCCTGCCAATGAGAGTAAGTGAAAAATGTTGAGCAGTGTCCACCTCAGGTGTTGCCGTTTATTGAAATGGTACAATGCAATGTTTTCTTTTGGAGATCTAAAACTTAATGTTCTTTGACAGCCGGTGTCTGTCTCAAGAAGTGTATGGGCAAACCTGAAAATGGTGTACTGCGGCCTGATGTTTCAGAATTCAACAGATTTCTGCCAGATTTTCTGAGCAACAGACCTGACCTGCAGTG[T/A]CCAAAAGGGTAAGAAAAGCAAATTAATTAAGTCTGAACCAACTGAACACTGAAGGTTTCCATCCAGTATAGATAAACACCTTTATAATAATGCACTTGCCACTTACTAAAAAAATGTTATTTCATTTCCAGTGGTTTGGGAGCCTATGATAAAGCTGTGATTAGAGACAATGAAACTGGGGAAATAATAGGTAAGATACATGCATTTTGTTTGTTTAATGTAACAAATAGATATATGTGACAATGCTACAACGTTATTTTAAACTGGCGGTTGCTAAAATGCTAATGTCTAATTCACATTCACACAGCAATACACATTCTTGTGGTAGTCTTATTCCTTATTTAGTGAAATGTTTGCACTTCCTTTGTGTACAAATAGCCAGTTTTACCCCTAAACAAAAACCCACCCTGTTGAGAAAAAAAACAAAAAAAAAAACAGTTTAAATCAACCTTAGCTGGTTGACCAGCCTGGTTTTAGATGTTTTTTTTGCCATTTCCAGG
Associated Phenotype:
Not determined