Busch Lab

ZMP

rspry1

Ensembl ID:
ENSDARG00000062558
ZFIN ID:
ZDB-GENE-061026-2
Description:
RING finger and SPRY domain-containing protein 1 [Source:RefSeq peptide;Acc:NP_001038537]
Human Orthologues:
RNF123, RSPRY1
Human Descriptions:
ring finger and SPRY domain containing 1 [Source:HGNC Symbol;Acc:29420]
ring finger protein 123 [Source:HGNC Symbol;Acc:21148]
Mouse Orthologues:
Rnf123, Rspry1
Mouse Descriptions:
ring finger and SPRY domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1914860]
ring finger protein 123 Gene [Source:MGI Symbol;Acc:MGI:2148796]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa43079 Nonsense Mutation detected in F1 DNA Not yet available
sa16314 Nonsense Available for shipment Available now
sa32199 Essential Splice Site Available for shipment Available now
sa23276 Essential Splice Site Available for shipment Available now
sa23277 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa43079
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
ENSDART00000090608 Nonsense 271 580 8 15
Genomic Location (Zv9):
Chromosome 18 (position 17398215)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17749981
GRCz11 18 17739047
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTCATTATTCGTTTCAGGTGAGAACAAGTTAACGGTGTCAGAGTCATG[T/A]ATCAGTGACCGTTTGTCTGTTCTGGAATCCTGGGCAGATAACTTAGATTA
Long Flanking Sequence:
TGCATTATAATGCTTGAAGTATCAGAAGTATCGACCGATCACCATAACTTGGACTTTGTATTTGCTATTGGATGCAAAAATCTCTAGTATTTGTGTATTATTATTCTGTTTTCCTCGGATGGTTGATTGGATGTTACAGAAATTAGCACATACATTACATATAACATTAATAATTATTAATGTATAATTATTATTATATTGATTAGAGTAAGAAATGCTTTTAAATCTTCAAAGTTGTAAATCTATAGTTTTGCTTGCATATTTGACATAAGTAATTTTTTCAACTGTTTAATTCAGTTCTTTTGGTTTTCCTCAGAGTTCTGAAGCCCACCCCACTGTTATGCTGTTTGCTCTTATTGCTTTAGAGAAGTTCTCACAAACCAGTAAGTCTAACTGATGTCAGATCAATATTTCTATCAGGAATCTTTCCGAAAATGGTGCGTTTGATATGATTCATTATTCGTTTCAGGTGAGAACAAGTTAACGGTGTCAGAGTCATG[T/A]ATCAGTGACCGTTTGTCTGTTCTGGAATCCTGGGCAGATAACTTAGATTACCTAAAGCGCCAAGTGGGCTTCTGCGCTCAGTGGAGTCTTGATAACCTCTGTGAGTACGTTTTGATGGGTAATCAGGACTTTTAGTATTTGTAATTGCTATTGATACAAAGAAAATAAATGTTTCTCAGGACATCTGAAGTCTTTTTAATATAAATGATTTTTAGTAATAACTGTTTGCATTTTATAATTGTATTGTAGATTGAAGTCTTGTGGCATGTTTGACTGATGTTATCTTTGTCTCTCTTTGGCTCATAGTCATTAAAGAGGGGCGCCAGTTTACCTATGAGAAAGTCAACTTAAGCAACATCAACGCCATGCTGAACAGTAATGACGTCAGTGAATATCTCAAGATCTCTCCTACTGGACTGGAGGTGAGAGACAAACCAATATTGTTAATTATGTGAAAATTCTTCATTTAGGTAATGCATGGTGTGTTAAAGGGTCACGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16314
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
ENSDART00000090608 Nonsense 359 580 10 15
Genomic Location (Zv9):
Chromosome 18 (position 17402320)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17754086
GRCz11 18 17743152
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAGGCCCGTTGTGAYGCATCATCATTTGAGAGCGTCCGCTGCACGTTCTG[T/A]GTGGWTTCGGGGGTTTGGTACTATGAGGTCACGGTTATCACCTCTGGCGT
Long Flanking Sequence:
TCCCATACCAAGCCGCTTTTTTTCCTCCGACACTCCCCCCTAAACAGAGCTGGACACGCCCACTTTTCTGACTTTTTCCAAAGTAGAGGTGTGAAAACACCCTGCTGAAACGAGGGGGTTTCATGGCCCTTTAAGAATTGAAAATGTTCACTTAGTGACAGATAAAAGACAAAGTCTTTCAAAATGAAAATAAAATAAATCAACTGCGTGTACAGGGCATCAGGAATGTTCTAGAGTAGTGATTTTGTGGCAGATAGGATTCTGTTTAAACCAGGAATGAGATCGCATTCATTTCGGGTTTATCATAAACAAACAGCATTTTTTTTATTAAACTACTGAATGGTTCAGATACCGAATCAATCAGAATCCCCATGTTCATCTATTGTGCAAGAGTAGCTGTTTATATTCATAATATAATGTCTCTAATGAGATCAATGTCATCTTTGTCTTTAGGCCCGTTGTGACGCATCATCATTTGAGAGCGTCCGCTGCACGTTCTG[T/A]GTGGATTCGGGGGTTTGGTACTATGAGGTCACGGTTATCACCTCTGGCGTCATGCAAATTGGCTGGGCAACCAAGGACAGCAAGTTTCTCAACCATGTGTGTTTTAATTAAGCTCCTTTATTTCTGATTTCTCCCTTAGCTTCATGTTTTAATATTCTTATAAAAGCACAAATATTTTTATGAACACTTAAGGTACAGTGGAAGTCAGAATTAGTAGCCCCTCTTTGATTTTTTTTCTAGAGAAACATTTCACAAATGAAATTTTTACAGTATGTCGAATTTTTTTTTTTTTTAACAAGATTTGTTTTAATTCTGCTGGAATAAAATAAGTTTTTCATTTTTTAAAAACCATTTTAAAGTCAAAATTATCTGCCCATTTAAGCTATTTTTTCCGATATTCTACAGAATAAACTATCGTTATACAATAACTTGCCTAATTATTCTAACCTGCCTAGTTAACCTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32199
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090608 Essential Splice Site 391 580 10 15
Genomic Location (Zv9):
Chromosome 18 (position 17402418)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17754184
GRCz11 18 17743250
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTCATGCAAATTGGCTGGGCAACCAAGGACAGCAAGTTTCTCAACCATG[T/C]GTGTTTTAATTAAGCTCCTTTATTTCTGATTTCTCCCTTAGCTTCATGTT
Long Flanking Sequence:
ACCCTGCTGAAACGAGGGGGTTTCATGGCCCTTTAAGAATTGAAAATGTTCACTTAGTGACAGATAAAAGACAAAGTCTTTCAAAATGAAAATAAAATAAATCAACTGCGTGTACAGGGCATCAGGAATGTTCTAGAGTAGTGATTTTGTGGCAGATAGGATTCTGTTTAAACCAGGAATGAGATCGCATTCATTTCGGGTTTATCATAAACAAACAGCATTTTTTTTATTAAACTACTGAATGGTTCAGATACCGAATCAATCAGAATCCCCATGTTCATCTATTGTGCAAGAGTAGCTGTTTATATTCATAATATAATGTCTCTAATGAGATCAATGTCATCTTTGTCTTTAGGCCCGTTGTGACGCATCATCATTTGAGAGCGTCCGCTGCACGTTCTGTGTGGATTCGGGGGTTTGGTACTATGAGGTCACGGTTATCACCTCTGGCGTCATGCAAATTGGCTGGGCAACCAAGGACAGCAAGTTTCTCAACCATG[T/C]GTGTTTTAATTAAGCTCCTTTATTTCTGATTTCTCCCTTAGCTTCATGTTTTAATATTCTTATAAAAGCACAAATATTTTTATGAACACTTAAGGTACAGTGGAAGTCAGAATTAGTAGCCCCTCTTTGATTTTTTTTCTAGAGAAACATTTCACAAATGAAATTTTTACAGTATGTCGAATTTTTTTTTTTTTTAACAAGATTTGTTTTAATTCTGCTGGAATAAAATAAGTTTTTCATTTTTTAAAAACCATTTTAAAGTCAAAATTATCTGCCCATTTAAGCTATTTTTTCCGATATTCTACAGAATAAACTATCGTTATACAATAACTTGCCTAATTATTCTAACCTGCCTAGTTAACCTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGTATAAAAGTGTCTTGAAAAATATCTATTAAAATATTATTTACTGTCATCATTGCAAAGATAAAATAAATCATCTAAACTATTATGTTTAGAAATGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23276
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090608 Essential Splice Site 463 580 12 15
Genomic Location (Zv9):
Chromosome 18 (position 17404708)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17756474
GRCz11 18 17745540
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTAACGGACACCAGCTGCCTCCTGAGAAGCAGGTGTTCTTCTCTGCCAC[G/A]TAAGCGAAGATCACTTCCTTAACCTTAAAACGAGCATGATGGAACTTTTT
Long Flanking Sequence:
TGTAATAATTTGAATCATAACTAATAACAAACTAAAATTGTCTGGGTGTTTCAGCTTATTTTAAATGACCAGTTTCCTGTTATATACACTTATGTATTCTAAAAATGAAATAATTGTTCTGTAGTAAGAAAACACATCTCTGTGTTTATACAGGAGGGTTATGGGATTGGAGATGATGAGTACTCGTGTGCGTATGACGGCTGCAGGCAGCTGATCTGGTACAACGCTCGCAGTAAACCTCACTCCCACCCCTGCTGGAAAGAAGGTTTGTAGAGCATCCTGTTCAGCTCCCAACATCTGCATGTGATGATTACCTATTTACAATTGCCTACATTTATTCCATATCATCATTTTGTTATTACAACGTTGTGTGATCAGTGTTCTCTGGTCTTTCTAGGTGATGCCATAGGCTTCCTGCTGGACCTCAGTAAGAAGCAGATGATTTTCTACCTTAACGGACACCAGCTGCCTCCTGAGAAGCAGGTGTTCTTCTCTGCCAC[G/A]TAAGCGAAGATCACTTCCTTAACCTTAAAACGAGCATGATGGAACTTTTTGAACACTTGGCTTTCTTTGTTTCAGGTCTGGCTTCTTTGCTGCAGCCAGTTTTATGTCCTATCAACAGTGTGAGTTCAACTTCGGAGCCAAACCCTTCCGCCATCCCCCCTCCATCAAATTCAACACCTTTAATGAGTTTGCCTCGCTCGCATCAGACGAGAAAATCATTCTGCCCAGGTTTGCACCATTTATTAGATTGCTGTACAAAGGGTGAAGTATCAATGGCCGTTATAGATGTGAATGATGCACTGGTTATTATCTAAAGTAGGTGACTCATGCAGTGAGTATCTGAAATTGCTCTTCCTTTGTTTTATTTCAGACACAGACGCCTAGCATTGCTCAAGCAGGTTAGCATCAGAGATAACTGCTGCACCCTCTGCTGCGACCAGATGGCGGACACTGAACTGAGACCCTGTTCGCACAGGTACAAAGATCAGCTTATAGAATCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23277
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090608 Essential Splice Site 514 580 13 15
Genomic Location (Zv9):
Chromosome 18 (position 17404938)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17756704
GRCz11 18 17745770
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAATGAGTTTGCCTCGCTCGCATCAGACGAGAAAATCATTCTGCCCAGG[T/C]TTGCACCATTTATTAGATTGCTGTACAAAGGGTGAAGTATCAATGGCCGT
Long Flanking Sequence:
CAGTAAACCTCACTCCCACCCCTGCTGGAAAGAAGGTTTGTAGAGCATCCTGTTCAGCTCCCAACATCTGCATGTGATGATTACCTATTTACAATTGCCTACATTTATTCCATATCATCATTTTGTTATTACAACGTTGTGTGATCAGTGTTCTCTGGTCTTTCTAGGTGATGCCATAGGCTTCCTGCTGGACCTCAGTAAGAAGCAGATGATTTTCTACCTTAACGGACACCAGCTGCCTCCTGAGAAGCAGGTGTTCTTCTCTGCCACGTAAGCGAAGATCACTTCCTTAACCTTAAAACGAGCATGATGGAACTTTTTGAACACTTGGCTTTCTTTGTTTCAGGTCTGGCTTCTTTGCTGCAGCCAGTTTTATGTCCTATCAACAGTGTGAGTTCAACTTCGGAGCCAAACCCTTCCGCCATCCCCCCTCCATCAAATTCAACACCTTTAATGAGTTTGCCTCGCTCGCATCAGACGAGAAAATCATTCTGCCCAGG[T/C]TTGCACCATTTATTAGATTGCTGTACAAAGGGTGAAGTATCAATGGCCGTTATAGATGTGAATGATGCACTGGTTATTATCTAAAGTAGGTGACTCATGCAGTGAGTATCTGAAATTGCTCTTCCTTTGTTTTATTTCAGACACAGACGCCTAGCATTGCTCAAGCAGGTTAGCATCAGAGATAACTGCTGCACCCTCTGCTGCGACCAGATGGCGGACACTGAACTGAGACCCTGTTCGCACAGGTACAAAGATCAGCTTATAGAATCAGTGTTTACACAACTGGCTTTATGGGGACAGGGGCTTGGTTGAGGTGGAGTAGAAAAGAACAACTGTTGTTTGGGGAATTGGGACATTTGGAACACATTCAGCCTTTTGTAACCCATATCCCTGCATTAAGCCTGTTAAGAATTTTAGGGTGCACTCACACTATGCCATTTGAACTGTGTCAATGCGTGTTTCCTGGTTTGTTTGACAAGTTTGAGGGCGAGGTTCAGTTG
Associated Phenotype:
Not determined