Busch Lab

ZMP

LOC797914

Ensembl ID:
ENSDARG00000052701
Human Orthologue:
SMPD2
Human Description:
sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) [Source:HGNC Symbol;A
Mouse Orthologue:
Smpd2
Mouse Description:
sphingomyelin phosphodiesterase 2, neutral Gene [Source:MGI Symbol;Acc:MGI:1278330]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa33978 Nonsense Mutation detected in F1 DNA Not yet available
sa15945 Nonsense Available for shipment Available now
sa40801 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa33978
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
ENSDART00000074602 Nonsense 289 436 9 10
Genomic Location (Zv9):
Chromosome 6 (position 54654261)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 54690995
GRCz11 6 54699103
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGAGGCTCTCACTGCCCAGTTCCTGTTTACACCAACTAAAAAGGGGAAT[A/T]AATGTGCAGAAAACAAATCCGGCTGTGTTTTAGGTAATTACACTTCAGTT
Long Flanking Sequence:
CAGCTGTATTTTTCCACAATAAAGCTCTTCAGTCTTAAACAACAGCTGTTGATAAAACTGTACATCAACCAGTTGGATGTACATTATCCTTTACTTATTGCCTTAATTCTGAGTAATCCTGCACTTTCTGCACTCTTGTCACCAAGACAAATTCCTCACACATGTAAACAAACTTGTCAATGAAGCTCATCCTCCATCTTCTTCTACTCTGGTTTAGTAAGTTGAACAAACCTCAAGCCAAAGTCTTAGCCTTTGGCATTTAACACATCTTGCAGACATGAATAAAGCCTCAGAGAACTTCTGGTTGTCTAATTATAGCTTTCTTTTGTGCGCATGAATGCTAACAGTGTTGTTTGTGTGAACAGGGATCAGGGGAAGTGGATGTGAGCTGCGAGTCTTTGTCCACTACTAAGGGTCCTGTTCCTGGACAGCCGTTTCCGTACTCTGACCACGAGGCTCTCACTGCCCAGTTCCTGTTTACACCAACTAAAAAGGGGAAT[A/T]AATGTGCAGAAAACAAATCCGGCTGTGTTTTAGGTAATTACACTTCAGTTTTGAGATCTTGGGTCAAAAACATCTTGCCAGTAAACTAAATAACTATTAAAGTTTGGGTGTTTTTGGCATGTGGAAGATTCATTAGAGGAAACGCTAGAGCAAAACTTGTATTTACTCATTTACATTTCAGGAACTCTCATATTGCTACAAACCTGTATATTATTATTATTATTATTATTATTTTTAATTATTAAATGATATTCACTCACTGGCCACTTTATTAGGTACACCTTACTAGTACTGGGTTGGACCCCCTTTTGCCTTCAGAACTGCCTTAATCCTTTTGACATAGAGTCAACCCTGGAAAGATTCCTCTGAGATATTGGTCAATCGGTACTGAGCCCAAAGTGTGCCAAGAAAATCTCCCCACACCATTACACCACCACCACCAGCCTGAACTATTGATGCAAGGCAGGATGGATCCATGCTTTCATGTTGTTGATACCATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15945
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074602 Nonsense 367 436 10 10
Genomic Location (Zv9):
Chromosome 6 (position 54657236)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 54693970
GRCz11 6 54702078
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCGTTGTTTGCTCTKGGAGCCGAACAGCCYTTTCCTAAAGCCACCTTCTA[C/A]CTGCTGGGGGCGCTGTGCTTTGCCATCCTGCTCTCCACACTKATGCTGTA
Long Flanking Sequence:
AGTGTTACCAAATGTCTTAACAGTCACTTTGAATATAACTATAAATTTTAAATGTTGATTATATTTTTATACTTTGTAATTTTTCTACAACCACATACTCTATATCGAAAGTCTTTAAATAGTTAATACTTGTTTTTATTCTCTAACTTCTATCTCTCTAAATATAGATTCTTGTTGTTATTATAATTATTTTTAATATTGTTGTTATTATTTTAAGGTCACGAGTGGTTGTGTAAAGCATTTTACTGCATATCATATTGTTTGAATTTGATTTGATTTGAATTGGTTTATTTCTCAGATGATCTTCCTGAGCTGGTCAACACAGTAAATGAAGCTCGTACTGAAGTAAAGGTGGGTCTGCACTGCTCTGAGGGCATGCGCTACACCGCGGCCCGTACAGGAATCATGGGTCTTGTCCTGTTAATACTGGAGCTGGTCATCGCCGCCATCCCGTTGTTTGCTCTTGGAGCCGAACAGCCCTTTCCTAAAGCCACCTTCTA[C/A]CTGCTGGGGGCGCTGTGCTTTGCCATCCTGCTCTCCACACTGATGCTGTACATCTTCTACAGTATGGAGGTGAAGGCACTGCAGGGCACTGAGGACCAGATGAGACTAGCAGTTAGTAGCCTTCAGGAACAGCTTAAGGAGTACCCCAAGGTTCTGTTCTCGGACCGTCAGCAAAATCCACTCGATTGCAAGAATCTGGCTCATTTGTAGATTTTTAGCAATGGAATTATAACTAATAACTAATAATTAATGGTTCATAACTTAATAATAGGTAGGTAATAAGCCAGTAGTTAAGTAGCCTTGAGGAACAACTTAAGAGGTCCCCTAAGGTTTTGCCCTCATACTATCTGTGAAACCCACTTGAGTGCAATAATTTGGCTCATTTGCAGCTTTTTAGCAATAAAATCACACTCTATAACTAGTAACGAACAGTTCATATCTTAATAATAGGAAGGTAATAAGCCAGTAGTTAAGTAGCCTTCAAGGACAGCTTAAGTAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40801
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
ENSDART00000074602 Nonsense 411 436 10 10
Genomic Location (Zv9):
Chromosome 6 (position 54657366)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 54694100
GRCz11 6 54702208
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCAGGGCACTGAGGACCAGATGAGACTAGCAGTTAGTAGCCTTCAGGAA[C/T]AGCTTAAGGAGTACCCCAAGGTTCTGTTCTCGGACCGTCAGCAAAATCCA
Long Flanking Sequence:
TGTTTTTATTCTCTAACTTCTATCTCTCTAAATATAGATTCTTGTTGTTATTATAATTATTTTTAATATTGTTGTTATTATTTTAAGGTCACGAGTGGTTGTGTAAAGCATTTTACTGCATATCATATTGTTTGAATTTGATTTGATTTGAATTGGTTTATTTCTCAGATGATCTTCCTGAGCTGGTCAACACAGTAAATGAAGCTCGTACTGAAGTAAAGGTGGGTCTGCACTGCTCTGAGGGCATGCGCTACACCGCGGCCCGTACAGGAATCATGGGTCTTGTCCTGTTAATACTGGAGCTGGTCATCGCCGCCATCCCGTTGTTTGCTCTTGGAGCCGAACAGCCCTTTCCTAAAGCCACCTTCTACCTGCTGGGGGCGCTGTGCTTTGCCATCCTGCTCTCCACACTGATGCTGTACATCTTCTACAGTATGGAGGTGAAGGCACTGCAGGGCACTGAGGACCAGATGAGACTAGCAGTTAGTAGCCTTCAGGAA[C/T]AGCTTAAGGAGTACCCCAAGGTTCTGTTCTCGGACCGTCAGCAAAATCCACTCGATTGCAAGAATCTGGCTCATTTGTAGATTTTTAGCAATGGAATTATAACTAATAACTAATAATTAATGGTTCATAACTTAATAATAGGTAGGTAATAAGCCAGTAGTTAAGTAGCCTTGAGGAACAACTTAAGAGGTCCCCTAAGGTTTTGCCCTCATACTATCTGTGAAACCCACTTGAGTGCAATAATTTGGCTCATTTGCAGCTTTTTAGCAATAAAATCACACTCTATAACTAGTAACGAACAGTTCATATCTTAATAATAGGAAGGTAATAAGCCAGTAGTTAAGTAGCCTTCAAGGACAGCTTAAGTAGTCCCCCAAGGTTCTGTACTCGGACCATCTGCAAAACCCCCTTCAATGCAAGAATTTGGCTCATTTGAAGCTTTTTAGCAATGGAATCATACTTTATAACCTGTAATAAACAGTTCATATCTTAATAATAGG
Associated Phenotype:
Not determined