Busch Lab

ZMP

ENSDARG00000041023

Ensembl ID:
ENSDARG00000041023
Human Orthologue:
NPTN
Human Description:
neuroplastin [Source:HGNC Symbol;Acc:17867]
Mouse Orthologue:
Nptn
Mouse Description:
neuroplastin Gene [Source:MGI Symbol;Acc:MGI:108077]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa44333 Nonsense Mutation detected in F1 DNA Not yet available
sa31113 Nonsense Mutation detected in F1 DNA Not yet available
sa8889 Nonsense Mutation detected in F1 DNA Not yet available
sa39488 Nonsense Mutation detected in F1 DNA Not yet available
sa38105 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa44333
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060116 Nonsense 61 344 1 18
ENSDART00000097332 Nonsense 15 277 1 23
ENSDART00000060116 Nonsense 61 344 1 18
ENSDART00000097332 Nonsense 15 277 1 23
Genomic Location (Zv9):
Chromosome 25 (position 30352845)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 28920206
GRCz11 25 29363213
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCTCCCTCTCCTCCGCATCCCTCACACACATATTCCGGGTCCACGGA[C/T]GACCTAGAAAAATGTCTTTCGCCGGGAATCCATTGGTGATATTAGTCGGA
Long Flanking Sequence:
TGCAAAAAAACAAACAAACAAAAAAAAAAACTGTAACACAATTAGTCACGAATCTTGTTTTCTTGCGGCAAGCTTCTATTTATAGTAGGATAGGCCTATTTATTTAAAAATAAATAAATCAATCAATAAATAAAGAGCAAACGAGTCCATTTTCTCCACGAAACTCCTACACGTATTTCAAATTCACCTGAGGATTGCGTCCACCTTTCCGGCATGTAGGCAGGAGTGCGCGTGTGTGTGTGTGCTATCGCGGGATTAAGAGTACAGCGCCACAGTCTTTACAAGCCTCGTTTTAAACCGGATGTAAGCGTAGCGGCGGCATCCACTTACCGTGTTCGCTATTGCTAGGCGACGGGCTTTTTTGCGTGACCCGATTCGAGCTCCATCCAGGGTCGCTCGTCATTGTAGCAGCTTCCGCTCCACTCCCATCCTCCTCGGCAGCACCTCTTCTCTTCTCCCTCTCCTCCGCATCCCTCACACACATATTCCGGGTCCACGGA[C/T]GACCTAGAAAAATGTCTTTCGCCGGGAATCCATTGGTGATATTAGTCGGAGTCTTGATGCTGCATTCGGGCTCCGCTCAAAACGGTAAGGTGTTTTTAAGAGCAAAAATGTTTCACGGTTAAATGGGGTTGCGGAGGCTTCTTTAATTAGGGTATGTTTGCGGCACGTGCAGGTAATTTGCCCAAACCGCACAGGATAAACTCAGCAGCTCTCAACGTTGCTTTTGGAAATGCCCAAAACTAAACGAGCAGTCATACTGCGAAAGGTGACATTTATGTGAATTAAATATTTAACAAATGTCCTTGCTGCTTTAAATGTCAAAGCGCATTGCAATTCCGCCTTGAAATTGCAATTTGTCACACTTTAGCGGCTCGCCGTCCTGCTTCAAATGCTCACAAATAGGTTACATTTTAATATTTGGCGGCTTGTCCCACAGGGAGCGTCTATTTGTGGCTGTGATTATGGATTTTTTTTAGAGGAGTCTTTGGATGTGCTTAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31113
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060116 Nonsense 61 344 1 18
ENSDART00000097332 Nonsense 15 277 1 23
ENSDART00000060116 Nonsense 61 344 1 18
ENSDART00000097332 Nonsense 15 277 1 23
Genomic Location (Zv9):
Chromosome 25 (position 30352845)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 28920206
GRCz11 25 29363213
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCTCCCTCTCCTCCGCATCCCTCACACACATATTCCGGGTCCACGGA[C/T]GACCTAGAAAAATGTCTTTCGCCGGGAATCCATTGGTGATATTAGTCGGA
Long Flanking Sequence:
TGCAAAAAAACAAACAAACAAAAAAAAAAACTGTAACACAATTAGTCACGAATCTTGTTTTCTTGCGGCAAGCTTCTATTTATAGTAGGATAGGCCTATTTATTTAAAAATAAATAAATCAATCAATAAATAAAGAGCAAACGAGTCCATTTTCTCCACGAAACTCCTACACGTATTTCAAATTCACCTGAGGATTGCGTCCACCTTTCCGGCATGTAGGCAGGAGTGCGCGTGTGTGTGTGTGCTATCGCGGGATTAAGAGTACAGCGCCACAGTCTTTACAAGCCTCGTTTTAAACCGGATGTAAGCGTAGCGGCGGCATCCACTTACCGTGTTCGCTATTGCTAGGCGACGGGCTTTTTTGCGTGACCCGATTCGAGCTCCATCCAGGGTCGCTCGTCATTGTAGCAGCTTCCGCTCCACTCCCATCCTCCTCGGCAGCACCTCTTCTCTTCTCCCTCTCCTCCGCATCCCTCACACACATATTCCGGGTCCACGGA[C/T]GACCTAGAAAAATGTCTTTCGCCGGGAATCCATTGGTGATATTAGTCGGAGTCTTGATGCTGCATTCGGGCTCCGCTCAAAACGGTAAGGTGTTTTTAAGAGCAAAAATGTTTCACGGTTAAATGGGGTTGCGGAGGCTTCTTTAATTAGGGTATGTTTGCGGCACGTGCAGGTAATTTGCCCAAACCGCACAGGATAAACTCAGCAGCTCTCAACGTTGCTTTTGGAAATGCCCAAAACTAAACGAGCAGTCATACTGCGAAAGGTGACATTTATGTGAATTAAATATTTAACAAATGTCCTTGCTGCTTTAAATGTCAAAGCGCATTGCAATTCCGCCTTGAAATTGCAATTTGTCACACTTTAGCGGCTCGCCGTCCTGCTTCAAATGCTCACAAATAGGTTACATTTTAATATTTGGCGGCTTGTCCCACAGGGAGCGTCTATTTGTGGCTGTGATTATGGATTTTTTTTAGAGGAGTCTTTGGATGTGCTTAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8889
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060116 Nonsense 204 344 12 18
ENSDART00000097332 None None 277 None 23
Genomic Location (Zv9):
Chromosome 25 (position 30333454)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150134.1 18716
GRCz11 KN150134.1 18716
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAGGGAGAGGAAAGAAAGACGCGWGGCMGAAAAAGCAGGAGAAAGCACT[A/T]AAAGTGTGCCCAAGTTCATTTCCAGTCCTTTCACAAGCATCCTCAAAATG
Long Flanking Sequence:
AGCTAAAAAAACACCCCGTGGCCTTTGCAAAGCTACGATGGGCTGAATGTTCTGATCTTTAGCGCATTAAATCTTTAAAACGCCGTCCGAGCCATGTGTGGAAGCAGGATATAAACAATAACGGGTGACTTGTGAGCACTTAAAGCAATTTTTTCGGTGGCTGGTGAAGACAGGTGAGTTGTGTAAAAGTGATGTCACTCGTTCAGACCACGCTGATTGAGTCTCGACCTTGAGTAAAAGGAGCGCACCTTTGTAAGAGCGCTGTAATTAGGATGAACGCGGCTGTGTGTTTGCTGACGCTCTCTCCTTTACGCATTCAGGCTTTCTGACACGAGGACCACGCAGAGGAACGGGAGAAATTGAATGCTGGGAGAGAAGAAAAAAAAAAAAAAAACACTGACACGTTCAGCATGATGCAAAGAGGCCAAGGGGTCAGGGCAAGTCAGAGAAAGAGGGAGAGGAAAGAAAGACGCGAGGCAGAAAAAGCAGGAGAAAGCACT[A/T]AAAGTGTGCCCAAGTTCATTTCCAGTCCTTTCACAAGCATCCTCAAAATGGGCTAATGGGAGGTCCGTGAAAAGCCTAACACTTGCTGGCGGCGTGTTGAGAGCCCACATATGCGGAGCGAGGGCCTTCGCTTCTCAAGGACCACAAAAGACCAAGGCTTTTGAGACACGTCTTCTGACGCCTCCATGGCCAGCGGCACCTTCTTGAGACGAGCATTAGTGATTGCTTTTATTAACGCTGCCATTTCTGGCATGCCAACGACTTGGTATTGACGGAGAAAAGCCCTGTACGTGCCTGGAAGCAGTGTGGGCATTTGTTGGTTCCCCCCAACAATATCACTTGTTAGGTGAGCAGAAGCACCCAATCTCCCAATTGACAAGAGGCCGCCCCATTGTCTGCGCTTTTAATTTGATGTAGGTCATTTTATGTTCATTACATCCAGAAAGGGAGAGAAAAGAGACAATGGGAGATAAAGTGGAGCGAGGCGTGGTATTGATCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39488
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
ENSDART00000060116 None None 344 None 18
ENSDART00000097332 Nonsense 160 277 19 23
Genomic Location (Zv9):
Chromosome 25 (position 30330571)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150134.1 15833
GRCz11 KN150134.1 15833
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGAGGGGTCTAAAAGGTCAAATTGTACTTCCAGTCATTTATATAGAATA[T/A]CCAGGGTATATTATATCAGATTGTGTTTGGAATTTTACTGTACCTGATCA
Long Flanking Sequence:
ANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTGATCATATATACAGTTAAAAACAAAATTATTAGCAGTCCTGTTGAATTATAATTTTTATTTAACTGCTATTTAATGGAGAGATTGTTATGGATACTTCAGCATGAAGTGCAATGTAAAGGCTTAAATGGGTTAAATAGGATTACTAGGCAAGTTAGGTTTACTAGGGAAGTCATTGCATAGCAGTAGTTTGTTATATTGTTATATAAATATTCCATCCAAAAAAAAAAAAAAAGAGTTTATGTAGAAGAAAATATAATAGGAAATAATGTGAACAAAATTGTATTGCTCTGCTAAACATCAGTTTGGAAATATTTGAAAAAAAAAAAAAATCTTTTTAAATGGTTAGATTGAGGGGTCTAAAAGGTCAAATTGTACTTCCAGTCATTTATATAGAATA[T/A]CCAGGGTATATTATATCAGATTGTGTTTGGAATTTTACTGTACCTGATCAGATTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACATATATATATATATATATATATTATTTATTTATTTATTTTTTTTTTTGAAGCAGTAAACATGTCAGGCTGAATAATGAAAATGAATCATTGACTTCTGCTGTCTTCATTTGTTAAAAAAAAACACTGATTTATTTACAACTTAAAACGGCGTCTTTGAATAAAAAAAAAATGTAAATAAAAAATCTTACATTTACCTTAGGAACGGTAATACAGAAAATGTTGCCACTTTTAAAACCTTGTCTTTTCCAAACCATGGTTTACCTTGGAAATGATTATTGTCCCATATGGACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38105
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060116 Essential Splice Site 211 344 13 18
ENSDART00000097332 None None 277 None 23
Genomic Location (Zv9):
Chromosome 25 (position 30328799)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150134.1 14061
GRCz11 KN150134.1 14061
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAAATAAATGATGACAATTTTTTCATTTTTAGGTCAACTATCCCTTCAA[G/A]TATTAAAAAAAAAAAAACACTCAAAGAAGATGAAGCAAAAACACAATGCA
Long Flanking Sequence:
TAGAACACTTGTGGTGCTTTTGAGTTGGGATACAGGTTGGGTTTTGTGGCATGGGTAGGTTTAAGGGTAGGTTAAGGTGTAAGGGATGGTCAACAGTGTATTTACAAATGTAATTACAAAAGTTAACTACAGATGTAATTACATACATGTATTTAATCAAGCATAAGTACACAGTAAATACATGTATTTACACAATAAGTACATTGTAACAAACTATTAATTCCTATGTAAGTACATAATAGTTAAGGCCACTTAATATAAAGTGGGACCGAATATGGGATGATGGGGCAGGGTGGTGCTGGATATGTGCATACCTTTGAATAAAATCCTGCAGACGCCCCTGCATGCAGAAACCGCTAGCCATTGGCATCAATAGTAGGAAAAACAAACACTATGAAAGTCAATGGTTACTGGTTACCAAGTTTGTTCAAAATATCTAATAAATTAAGGCCAAATAAATGATGACAATTTTTTCATTTTTAGGTCAACTATCCCTTCAA[G/A]TATTAAAAAAAAAAAAACACTCAAAGAAGATGAAGCAAAAACACAATGCATTAAACAAAACATTAGGTTATATGCACAGCTATTGTCTCTTCCCATACTGATAAACATTCGGTGAATGGTTAATGTGACTTCAAGTTTATACAGTTCCTTTTATAGCATTGACCTTGTAATATAATTAAAATATAATCAGTTAAATAGACTTCGATATTCACTTAGTTGTTTGAGTGTAAAACAAGATGAAATCCGTTTACAAGCCATCAGGATCAGCGAGCGCTGAAACTCTGAAAATACTTGGGTAAAATAAATGTTCATACTTTAAAGACATGGCATGGAGAAATGTCATTTAATGCAGTGCTTCTTGTACATCCTGAGACCCACTTTATATGGTATAACAATCAGGTAGTGAAAAATGTTGATTTTTAAAGAAAACAGACCTTAAATGCACTGATTTTGTAACACCATGCAATTCACCAAAAGCGCTTGACCCAGGTTACTGAAAA
Associated Phenotype:
Not determined