Busch Lab

ZMP

NPC1L1

Ensembl ID:
ENSDARG00000077891
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.
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.
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.
Availability:
Order Allele From ZIRC
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.
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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