ZMP
wwp1
Ensembl ID:
ZFIN IDs:
Description:
E3 ubiquitin-protein ligase SMURF1 [Source:RefSeq peptide;Acc:NP_001001943]
Human Orthologue:
SMURF1
Human Description:
SMAD specific E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:16807]
Mouse Orthologue:
Smurf1
Mouse Description:
SMAD specific E3 ubiquitin protein ligase 1 Gene [Source:MGI Symbol;Acc:MGI:1923038]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20100 | Essential Splice Site | Available for shipment | Available now |
sa20099 | Nonsense | Available for shipment | Available now |
sa20098 | Essential Splice Site | Available for shipment | Available now |
sa7547 | Missense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa20100
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000004923 | Essential Splice Site | 68 | 731 | 3 | 18 |
ENSDART00000129705 | Essential Splice Site | 68 | 731 | 3 | 19 |
Genomic Location (Zv9):
Chromosome 3 (position 40710794)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 40574154 |
GRCz11 | 3 | 40716012 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACGGTCAAAAGCACACTGGACCCCAAGTGGAATCAGCATTACGACCTG[T/A]GAGCAAATTCATCCTCTTATCAGTGGTGTTCCTCAGGGATGGAGCTGAAC
Long Flanking Sequence:
CCAGAACATTGCATTTTAAATTAATAAATAAAATCTGAAAAAACAAAATGTTCAAGCTTTCGTTTCAAAGGTCATTTAGACTGTTACAGCCTTTACAAATACAGTAATATCGACGTGGTATGAAAACAGGCAGAATCACTCAAATGAAAGCATCAAGGCTGAACTCAAATTGTGAAATAATTTAGCAACTGAAAGCTTCAAGTTGTTTTTTTTAGAGATCTGTAAAGTCATCCATATATTTGCAGTCTATCTAAATACTTGGCGCATTCATTGTGAAAGCTGCTTAGCCATCCAGATTGTACCCGTTCTTTCAGAGGACATCGTGTGACGTCTGGGTTTGTCCTCTGTTATTTATTTGTCTTCCTGCCATACTGTCTTTTTCCGCTACAGGGTTGCCTGATCCTTTTGCCAAAGTGGTGGTGGACGGCTCGGGTCAATGCCACTCTACAGACACGGTCAAAAGCACACTGGACCCCAAGTGGAATCAGCATTACGACCTG[T/A]GAGCAAATTCATCCTCTTATCAGTGGTGTTCCTCAGGGATGGAGCTGAACCTCTTGCTAAAGATTTTTTGATGTGTATATAGGTATATTGGGAAGACCGATTCCATCACCATTAGCGTATGGAACCATAAGAAGATCCATAAGAAGCAGGGTGCGGGATTCTTAGGCTGCGTGCGGCTCTTGTCAAACGCTATCAGCAGACTAAAAGACACAGGCTGTGAGTGTGACGCTTTAATAGCAACCCCTAATCTCTTCATTGTGCCATAATACAGTCATTATATGTCTCAAGTAAAATGTATGTAGTCATAAATGTTTGATAACTGCATATATTAATCGTTTTTGTCTTTTTGATCATCAGACCAGCGTTTAGACTTATGCAAGTTAAACCCATCTGACAGTGATGCTGTCCGTGGACAAATCGTTGGTACGTATTCATAGAGTTTTTCAGATATAATGGCTTCGAGATCTGCTTAGAAACCCCTCAGGGACACTTTTTTAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20099
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000004923 | Nonsense | 132 | 731 | 5 | 18 |
ENSDART00000129705 | Nonsense | 132 | 731 | 5 | 19 |
Genomic Location (Zv9):
Chromosome 3 (position 40710380)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 40573740 |
GRCz11 | 3 | 40715598 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTAGACTTATGCAAGTTAAACCCATCTGACAGTGATGCTGTCCGTGGA[C/T]AAATCGTTGGTACGTATTCATAGAGTTTTTCAGATATAATGGCTTCGAGA
Long Flanking Sequence:
TGGTGGTGGACGGCTCGGGTCAATGCCACTCTACAGACACGGTCAAAAGCACACTGGACCCCAAGTGGAATCAGCATTACGACCTGTGAGCAAATTCATCCTCTTATCAGTGGTGTTCCTCAGGGATGGAGCTGAACCTCTTGCTAAAGATTTTTTGATGTGTATATAGGTATATTGGGAAGACCGATTCCATCACCATTAGCGTATGGAACCATAAGAAGATCCATAAGAAGCAGGGTGCGGGATTCTTAGGCTGCGTGCGGCTCTTGTCAAACGCTATCAGCAGACTAAAAGACACAGGCTGTGAGTGTGACGCTTTAATAGCAACCCCTAATCTCTTCATTGTGCCATAATACAGTCATTATATGTCTCAAGTAAAATGTATGTAGTCATAAATGTTTGATAACTGCATATATTAATCGTTTTTGTCTTTTTGATCATCAGACCAGCGTTTAGACTTATGCAAGTTAAACCCATCTGACAGTGATGCTGTCCGTGGA[C/T]AAATCGTTGGTACGTATTCATAGAGTTTTTCAGATATAATGGCTTCGAGATCTGCTTAGAAACCCCTCAGGGACACTTTTTTAAAAATGTACTGAATAATAAGATGTCTAAGAAGGATAACACAAGCAGTGAACTTCTGAGAAAATCACGAAGCATTTGTTTTCTGATGCCATTTATTTCAGAGTGTTACAGTGAAGGTCATACTTTTAAGTGTCTATACGCTTTAGGAACACTGTGTGAAATCTGATATGAGTTTTCAGAATAATGTTAATCTATGCTGTATTTGATCAAAAATAATGGCTCAGTGTAAAGACCTGAACTGTTTTCATCATTACTGTAGTGAGTTTGCAGACCAGAGACAGAATTGGCAGTGGAGGGCCTGTGGTGGACTGTCGAGGACTGGTAGAGAATGAAGGGTGAGTCAACACACGTCTTGAGAATGCACAATTATTCAGCACTGGAACTGACTGGCTGTCTGCCCAGATAGAAAGCGCATTATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20098
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000004923 | Essential Splice Site | 160 | 731 | 6 | 18 |
ENSDART00000129705 | Essential Splice Site | 160 | 731 | 6 | 19 |
Genomic Location (Zv9):
Chromosome 3 (position 40709962)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 40573322 |
GRCz11 | 3 | 40715180 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGTGGAGGGCCTGTGGTGGACTGTCGAGGACTGGTAGAGAATGAAGGG[T/G]GAGTCAACACACGTCTTGAGAATGCACAATTATTCAGCACTGGAACTGAC
Long Flanking Sequence:
ATCGTTTTTGTCTTTTTGATCATCAGACCAGCGTTTAGACTTATGCAAGTTAAACCCATCTGACAGTGATGCTGTCCGTGGACAAATCGTTGGTACGTATTCATAGAGTTTTTCAGATATAATGGCTTCGAGATCTGCTTAGAAACCCCTCAGGGACACTTTTTTAAAAATGTACTGAATAATAAGATGTCTAAGAAGGATAACACAAGCAGTGAACTTCTGAGAAAATCACGAAGCATTTGTTTTCTGATGCCATTTATTTCAGAGTGTTACAGTGAAGGTCATACTTTTAAGTGTCTATACGCTTTAGGAACACTGTGTGAAATCTGATATGAGTTTTCAGAATAATGTTAATCTATGCTGTATTTGATCAAAAATAATGGCTCAGTGTAAAGACCTGAACTGTTTTCATCATTACTGTAGTGAGTTTGCAGACCAGAGACAGAATTGGCAGTGGAGGGCCTGTGGTGGACTGTCGAGGACTGGTAGAGAATGAAGGG[T/G]GAGTCAACACACGTCTTGAGAATGCACAATTATTCAGCACTGGAACTGACTGGCTGTCTGCCCAGATAGAAAGCGCATTATTTGAGCTTCCCGAAGGCCAGTTAGTTTCACAGTTCATCACTATTTTGATGATCAATATTTAGTATGTGGATTTGGCACGCTATGTTTGGGAAAATAGTTTTGGGGCTTTTCTATTTGACATGATTTGATAGTGTGATGATTATTATAAGATTGCTTAATATAAATTTTTTTGGTTTTACCCATGTGGCCTATGTTATGACATCAGAAATATAATTTCAATTTGCAGCATTTACTTCGCTTTTCTGTTTGCTCTTATCCTGATTCGTTTATTTGTTTTACTCTCATAAGTGGTGTGACAGAATAAGAGGGAAGGGTCCTGGCGAAACCTGAGCACAAGTGGTCATAAGAGATGCATTAATATGAGGTGGAAATGGTAATTAGTCTCAGTTGACCACTTGTGAAAGATCATTAAAAATGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7547
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000004923 | Missense | 561 | 731 | 14 | 18 |
ENSDART00000129705 | Missense | 561 | 731 | 14 | 19 |
Genomic Location (Zv9):
Chromosome 3 (position 40695956)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 40559316 |
GRCz11 | 3 | 40701174 |
KASP Assay ID:
554-4248.1 (used for ordering genotyping assays)
KASP Sequence:
TCAAACCAAATGGCAAGAACATCCCAGTCACAGAGGAGAACAAGAAAGAA[T/A]ACGTGAGGTGTGAAATATTTAAAGACTACTGCAGTAGGAGATTTTTATAT
Long Flanking Sequence:
CTACAAAAAACGAATTACCGCTTGTGCGAGGTGTTTCTAATGCAGTGCCTATGTGACAGGATAGCAAATTCGAAAATTCGAAAAAATTATTCTCTGCTCTGGCTGACGTCATCAGTCTCACACTATCTATTTTCTTTTTCTGAATGTCTTGATAACACCATTGTGGCTTTTTTCTTATTTCAGCAAATAAGACTGTAAAACAATTATTTGTTTTAATCTTCTTTTCACTGCGCTCTAAGCTTTCCCAACTATGATGACTTCCGCTACTGAGAAACCCAGAAATGTGAAAAAGGTCTAGTGTTGATGGGTCATCTGTTGAATATAAGCAACAGTAAGAATAACTTTGCCCTATTTTTCTCATGTTTTTCAGAGAAAATGACATCACATCTGTTTTGGACCACACCTTCTGCGTAGAACATAATGCTTTCGGCAAGTTCCTCCAACATGAGCTCAAACCAAATGGCAAGAACATCCCAGTCACAGAGGAGAACAAGAAAGAA[T/A]ACGTGAGGTGTGAAATATTTAAAGACTACTGCAGTAGGAGATTTTTATATGGAGAGCACTTTGTTTTTATAAATGTATCCTCATAAAGAATGTTGAGTTATTTATGATACATTTAAAAATAATGAAAATTTGTAATGTATCTTTTTCTTCCTTCAAAATAGCTTATTAAAATAACAAACTTGTTGTTATTAAGTAATATATATATATATTTATCTATATTAATTTTGCTATGAAATAGTTTTAAGTTGCTTATGTGGCATTGAATAGCCAAAAAAAGTAGTAAAGTATGAAGAGGTACAGGATTGTACATCATAACTGTTCTCATAATGGAAGAAAGTCATCCAGCAGAGGGCAGCAGTCTCTCTGGCTATTGGCTTCAGGTTTTAGGAGCCTCGCTGCTTTTTCCTCTGTCAGTTTGATTAAGTGACCCTTTGGTAAATAAGCTGCCAATCAAGAATGTTAGCGGAATGTCAATTTTTATTGTGCGGGAGTCATTACCA
Associated Phenotype:
Not determined