ZMP
spsb4b
Ensembl ID:
Description:
splA/ryanodine receptor domain and SOCS box containing 4b [Source:RefSeq peptide;Acc:NP_001003474]
Human Orthologues:
SPSB1, SPSB2, SPSB4
Human Descriptions:
splA/ryanodine receptor domain and SOCS box containing 1 [Source:HGNC Symbol;Acc:30628]
splA/ryanodine receptor domain and SOCS box containing 2 [Source:HGNC Symbol;Acc:29522]
splA/ryanodine receptor domain and SOCS box containing 4 [Source:HGNC Symbol;Acc:30630]
splA/ryanodine receptor domain and SOCS box containing 2 [Source:HGNC Symbol;Acc:29522]
splA/ryanodine receptor domain and SOCS box containing 4 [Source:HGNC Symbol;Acc:30630]
Mouse Orthologues:
Spsb1, Spsb2, Spsb4
Mouse Descriptions:
splA/ryanodine receptor domain and SOCS box containing 1 Gene [Source:MGI Symbol;Acc:MGI:1921896]
splA/ryanodine receptor domain and SOCS box containing 2 Gene [Source:MGI Symbol;Acc:MGI:1315199]
splA/ryanodine receptor domain and SOCS box containing 4 Gene [Source:MGI Symbol;Acc:MGI:2183445]
splA/ryanodine receptor domain and SOCS box containing 2 Gene [Source:MGI Symbol;Acc:MGI:1315199]
splA/ryanodine receptor domain and SOCS box containing 4 Gene [Source:MGI Symbol;Acc:MGI:2183445]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22718 | Essential Splice Site | Available for shipment | Available now |
| sa2792 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa22718
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059327 | Essential Splice Site | None | 281 | 1 | 4 |
| ENSDART00000143447 | None | None | 281 | None | 2 |
Genomic Location (Zv9):
Chromosome 15 (position 40215640)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 41732347 |
| GRCz11 | 15 | 41689743 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGAGTATTTTTTTTGTCTGAACTCAACCGACGAGGGATTCTCGCGAGAG[T/C]AAGTAACGTTACATCAGCGCGTGGCTGGTTTGTTTGTGTTTGTGCTTCAG
Long Flanking Sequence:
AAACATAACAAGTGTGGGAAAAAAAAGAGATTTAAAAAAAAGAGTATTACAAAATACTATAAGAGAGAGAGAGAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTTATATAATATTTCACAATAAATAAAATTCAATAAAATAAAACTCTTTCGTCACTGTCCTCTCATTGAGATGACCAATCAGCTCGCTCTGGCCTAGTATGACGTCACGCACTTACTGGCTTGCGGAACAAAAGCCGTCTGCTCGCTGCGCTCCTCCCGCCGGATGCAACCGACAGGACACCAAGACCTTCGTTTCCCGTAAAAGTTTGTTTTTAAAGCGTTTACCGTATTGTGTGTTAACATAAACAGCGTCGAAGTGTAAATCCCGGGGCTCGTGACGAGTATTTTTTTTGTCTGAACTCAACCGACGAGGGATTCTCGCGAGAG[T/C]AAGTAACGTTACATCAGCGCGTGGCTGGTTTGTTTGTGTTTGTGCTTCAGATTGTTTCAAAGCATCTGATCACCTTCAGTTTATATGAGATTATGCTTTCTGATTTTTGACCATGTCATATATGATTTCATGATTAAAGCATCCAGGATATTTTATTGTCACATGTCAGCCACAGTTTTGGCCTTTAAGCTCCTGTAAAACTCATTGTTTCGCTTTCACATAGATGTAAACATAGTGTGGCGGTTAACGTTACTTGTGAAAATTCAGGTAAGTTAAAGTCGGTGTTATATTCACACATTCACACCTTCTCCTTAATAATATGACTTCAGAAAAGTATTCTTTGCAATTCCTAGTCGATGGCTATCAAAGTACATTGTTCACAGTCAAATAAACAGTGCTAATGTTGTTTTGAAGTCCTACTTACCTGTAACTGTTAACCGAATATTCAAAGTACCATAGTAAACAATAGTACCCTGGCGAGAATGTCAATTGAGGTAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2792
Status:
F2 line generated
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059327 | Nonsense | 32 | 281 | 3 | 4 |
| ENSDART00000143447 | Nonsense | 32 | 281 | 1 | 2 |
Genomic Location (Zv9):
Chromosome 15 (position 40203440)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 41720147 |
| GRCz11 | 15 | 41677543 |
KASP Assay ID:
554-2704.1 (used for ordering genotyping assays)
KASP Sequence:
AGGAGGTGGGTGAGCTGGCGTATYCACCAGTGTGTGCGGCGCTTCGAAAT[C/T]GAGGTGTCCCTTTACCTGCCCGTCTGGAGCTGCTGTTGGATATGCCTCCG
Long Flanking Sequence:
TTAAAATTTAGCAGCACACAAAACACTACTATTTGGTAGTTCTTTCCAGTTGTTTTAGTTTTTTACAAATTTGGCAGCCAATAAATGTTGACTGTGAAATGGTTCAAGTTTCTGGGTAGTAAAAAACGTTGGGAAGACCCTAAACTCAGACTAAACCATTTAGTGTATAAATGCATAGTGTATCATAAGTCCATAGTGTGTCTTTTAGGACGTAACCAGTGTCTGTAAATGTCCGAACAAGCTTCCTTACTGTCTTTTATTCTCCTCCACAGGTTTGCTCTCTTCCATCTGAACGTGTTCTTGTGAATGAGACTGTGTCGTCTCTTCTGATTGGCTGAGGCTCTCGGGTCGGCTCTGCTCATGAGGTAACACAGCCTGTGGTTGTTGATGCCCGAGGCTGGGCAGTGATGGGGCAGAGGGTATCGGGTGTGGTCAAATCAGCGGATGAGCAGGAGGTGGGTGAGCTGGCGTATCCACCAGTGTGTGCGGCGCTTCGAAAT[C/T]GAGGTGTCCCTTTACCTGCCCGTCTGGAGCTGCTGTTGGATATGCCTCCGGCTGGTTCGGAAGCCCAGCTTCAGCACGCCTGGAACCCAGACGACCGTTCGCCAAACCTGTTTATCAAAGACGATGACCGGCTCACGTTCCACCGCCACCCGGTGGCCCAAAGCACTGACTGTGTGCGCGGGAAAACCGGCTTCACCCGAGGTTTGCATGCATGGAGTTTACGATGGCCTGTACGGCAGCGGGGCACTCATGCTGTGGTTGGAGTGGCCACTTCTTTAGCTACTTTACGAGCTGTTGGGTATTCTGCTCTAGTTGGAAGTGATGCTGAATCCTGGGGGTGGGATTTGGGACGAGGTCGGCTTTACCATGATCGAAAGAGCCGATCTGGGCCAGCGCCGCCGTATCCGGAGTTCGTGGAAGATGAGGATGAGGAAGGCACGTTCTCTGTGCCGGAGGAGATTTTGGTGGTGTTGGATATGGACGAGGGAACGCTGGGATTC
Associated Phenotype:
Not determined