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
sa19868 Nonsense Available for shipment Available now
sa16090 Essential Splice Site Available for shipment Available now
sa10849 Nonsense Available for shipment Available now

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:
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