ZMP
si:ch211-197i12.3
Ensembl ID:
ZFIN ID:
Description:
Leucine-rich repeat protein SHOC-2 [Source:UniProtKB/Swiss-Prot;Acc:Q1L8Y7]
Human Orthologue:
SHOC2
Human Description:
soc-2 suppressor of clear homolog (C. elegans) [Source:HGNC Symbol;Acc:15454]
Mouse Orthologue:
Shoc2
Mouse Description:
soc-2 (suppressor of clear) homolog (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:1927197]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37545 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa24200 | Essential Splice Site | Available for shipment | Available now |
| sa37544 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37545
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059882 | Essential Splice Site | 303 | 561 | 4 | 9 |
| ENSDART00000125215 | Essential Splice Site | 303 | 561 | 3 | 8 |
Genomic Location (Zv9):
Chromosome 22 (position 32304636)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 29665766 |
| GRCz11 | 22 | 29614961 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTGGAAGAGCTCAACCTTGAAAACAACAACATCTCGGTTTTACCAGAGG[T/C]AAGGGTTGCTTTTCCTCAGTCCAGCTGATAATTATTATCATGCTTGTATA
Long Flanking Sequence:
GTAGTTACATTTTTTGAGAGGTGCGTGATGGCCACAGCGAGGACTAATCGACCACATGAAGGCTGCACCGGAACATACGTGTGTGCCTGATGCAGAAGTATAAATCAGCATTAGGGGGTAACATTTCAAGCCCTTCACGCAAATTTTACAAATTGTAAAACTACTCTGTCAGGACGGCTTGAGGGTAAGTAAATTATGGGGTGAACTATTCCTATAATGCTGATGCTAATCGACTCCATTATATAGAGAAGTATGAGAAGAAAAAGAAAAAAAGGCATACATCATTAGGACAGCACCATTCTGAATAGATGATTCAATTTTGGGTGAACTATCAAAGTAGGATTTCTCACCTTCATTTACTGTTTCAGGTAACTTGGCAAGTATAAACCGTCTAGGTTTGAGGTATAACCGCCTATCAGCGATCCCTCGATCTTTAGCAAAGTGCAGAGAGCTGGAAGAGCTCAACCTTGAAAACAACAACATCTCGGTTTTACCAGAGG[T/C]AAGGGTTGCTTTTCCTCAGTCCAGCTGATAATTATTATCATGCTTGTATATATGTATATATGTGTGTATTACATTGGTCCTTGTCTGTTCCTAATCAGGGGCTTCTCTCCAGTCTGGTGAACCTGACAAGTCTGACGCTGGCGCGAAACTGTTTCCAGTCTTACCCAGTGGGCGGCCCGTCCCAGTTTTCCACCATCTATTCTCTCAACATGGAGCACAACCGTATCAACAAGATCCCTTTTGGCATTTTCTCTCGAGCAAAAGTGCTTAGCAAGCTCAATATGAAGGTGAGAGCACAAAAATTGTGGAGAGTGTAAAGTAAGGACACCAGCCTAAAGACTTAAGACTAGTGGCCTGTACCAGGATGCTGGCTGAACAAACTCTTAAATTAGGGGATTCATTTCTTGTTGACAAAACTAAACCTGTGCAATCACACTGTGTTGGTGTTATAATGCCGATCATCAACTTTCTCTTTTAACTTGGACTTTGACTCCAAGTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24200
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059882 | Essential Splice Site | 366 | 561 | 5 | 9 |
| ENSDART00000125215 | Essential Splice Site | 366 | 561 | 4 | 8 |
Genomic Location (Zv9):
Chromosome 22 (position 32304348)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 29665478 |
| GRCz11 | 22 | 29614673 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTTGGCATTTTCTCTCGAGCAAAAGTGCTTAGCAAGCTCAATATGAAG[G/A]TGAGAGCACAAAAATTGTGGAGAGTGTAAAGTAAGGACACCAGCCTAAAG
Long Flanking Sequence:
GACAGCACCATTCTGAATAGATGATTCAATTTTGGGTGAACTATCAAAGTAGGATTTCTCACCTTCATTTACTGTTTCAGGTAACTTGGCAAGTATAAACCGTCTAGGTTTGAGGTATAACCGCCTATCAGCGATCCCTCGATCTTTAGCAAAGTGCAGAGAGCTGGAAGAGCTCAACCTTGAAAACAACAACATCTCGGTTTTACCAGAGGTAAGGGTTGCTTTTCCTCAGTCCAGCTGATAATTATTATCATGCTTGTATATATGTATATATGTGTGTATTACATTGGTCCTTGTCTGTTCCTAATCAGGGGCTTCTCTCCAGTCTGGTGAACCTGACAAGTCTGACGCTGGCGCGAAACTGTTTCCAGTCTTACCCAGTGGGCGGCCCGTCCCAGTTTTCCACCATCTATTCTCTCAACATGGAGCACAACCGTATCAACAAGATCCCTTTTGGCATTTTCTCTCGAGCAAAAGTGCTTAGCAAGCTCAATATGAAG[G/A]TGAGAGCACAAAAATTGTGGAGAGTGTAAAGTAAGGACACCAGCCTAAAGACTTAAGACTAGTGGCCTGTACCAGGATGCTGGCTGAACAAACTCTTAAATTAGGGGATTCATTTCTTGTTGACAAAACTAAACCTGTGCAATCACACTGTGTTGGTGTTATAATGCCGATCATCAACTTTCTCTTTTAACTTGGACTTTGACTCCAAGTTCATTGAGTGCATGCATATGAATATGGGACATTAATAGCAAGCAACCATTCACTTGCCTTGGAACAGAAAGATACTGTGACTGACTTCTCGCGAAATTAAAAGGTTTAAAAGTACAAAAAATTGTAAAAATGCGTATGCAGCAAGGTAAAAAAAACAGTCCATGAAGGAGGAAAGCTTTGTGCAAGTGAAGTTAGTAAGCATAGTGTATAATATGTACTGTGTAGGTATACAGAGACTCTTATCTACCCTCAAAAGGATTTTTGCTGCTTGTTTCAACTGCTTATTTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37544
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059882 | Nonsense | 481 | 561 | 8 | 9 |
| ENSDART00000125215 | Nonsense | 481 | 561 | 7 | 8 |
Genomic Location (Zv9):
Chromosome 22 (position 32286638)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 29647768 |
| GRCz11 | 22 | 29596963 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTGCCGAGAGGAATCGGTCACCTGACCAACCTGACGTACCTGGGCTTG[G/T]GAGAGAACCTGCTGCAGCACCTTCCCGAGGAGATCGGTACGGTCCTCATA
Long Flanking Sequence:
GATGATTCAGAGAGTGGAATCTGAAAAAGAGAAAGCAAAATCGTCGATAAAAATAAGAGTTATACAACCTTCCTTTGGCTTAATCTCTACCGTTTAAGATCGTGTCTAGACAAAAGACCAAGATAATGAAGCTTTATTTTTATGATTTATGTCATTGTGCCTAACATAGTAGGCTACCTAATATGGTAAATAAGATATCTTAAATAAATATCCATTTTTTAATCGCTAAATTGTCTGCAAATTGTCATTTTTAGCAAAAAATATTTGTTTTTAATACAGAATGATTTCTATTCCTTGCCATGCCTTTCCCATTGCATTCTGGGATTGACCTGTCCACAAAGAACGCCTACCGTGCTGTTTTCCTCTCTTTATAGCATCCATTGTGCGTACTAAAAAAACAAATTCCTCATTTTTCACAGAAACTCGTATTGACCAATAATCAGCTGACAACTTTGCCGAGAGGAATCGGTCACCTGACCAACCTGACGTACCTGGGCTTG[G/T]GAGAGAACCTGCTGCAGCACCTTCCCGAGGAGATCGGTACGGTCCTCATAAACACACTGCACCACACACAAGCTACAGCCAGCTCACTTTTCTCTCTTCACCTCACAGGCACATTGGAGAATCTGGAGGACCTGTACCTGAATGACAACCCCAACCTGCACAGTCTGCCATTCGAGCTGGCGCTGTGCAGCAAACTGTCCATCATGAGCATAGAGAACTGCCCGCTCAGCCACCTGCCGCCACAGATCGTCGCCGGAGGCCCTTCCTTCATCATCCAGTTCCTCAAGATGCAGGGCCCCTACCGCGCCATGGTCTGAGACGCTCGCACACTGTACAGAGGAAACCGATTTCGGCGTTAGCTTCACGTCATTATATCTAGAACAACAAAACAAAACTGCGTGACTGGGAGGAATCGTAGCCAGTTATAGGTCCCAGTAGAAAACAACGTCTAGACATCTGTTGCCAAAATTAATGTACATTAGTGATTCCGAAGAGGCGCT
Associated Phenotype:
Not determined