ZMP
spint1b
Ensembl ID:
ZFIN ID:
Description:
serine peptidase inhibitor, Kunitz type 1 b [Source:RefSeq peptide;Acc:NP_001104693]
Human Orthologue:
SPINT1
Human Description:
serine peptidase inhibitor, Kunitz type 1 [Source:HGNC Symbol;Acc:11246]
Mouse Orthologue:
Spint1
Mouse Description:
serine protease inhibitor, Kunitz type 1 Gene [Source:MGI Symbol;Acc:MGI:1338033]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa29296 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa8501 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa3058 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa29296
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008077 | Essential Splice Site | 302 | 499 | 5 | 10 |
| ENSDART00000123331 | Essential Splice Site | 299 | 496 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 20 (position 3254187)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 3208049 |
| GRCz11 | 20 | 3225550 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGTCCTCAGTCAGAGCTGGTGGAGTAACGAGAAAGGTGCCTGTGGAAG[G/A]TAACTGCCTCTGAAACCCTCTGTGACAAATTCAGCTGTTGTTGTGATATT
Long Flanking Sequence:
GTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAATGTGACCGTATGTGTCTTTCCTTGCACTGGGTAGAGTAGGGGTCACCAAACTTTGTTCCTGGAGGGCCGGTGTCCTGCAGATTTTACCTCCAACCCTAATCAAACACACCTGAACAAGCTAATCAAGGTTTTACAAGATATACTTGAAACACCCAGGCAGGTGTGCTGAGGCAAGTTGGAGCTAAAACCTGCAGGGACACCGGCCCTCCAGGACCGAGATTGGTGACCCCTGGGGTAGAGGCTGGATGAGCACCCACTGCATAAACTATATGATGAGTAATTGGCGGTTCATTCCATGGTGGCGACCTCTGATAAATCATGGATTAAACCGAGTGAGTGAGTGGGTTATCGTAATGTGGATTTGCTCTGTCACATGTCTGTAATGCTTTTCTTTCTCCTCCATATGTTGTCTGTCCTCAGTCAGAGCTGGTGGAGTAACGAGAAAGGTGCCTGTGGAAG[G/A]TAACTGCCTCTGAAACCCTCTGTGACAAATTCAGCTGTTGTTGTGATATTCGGTACTCAACAGTGTCGTTGTGTTTGTGTGGTACAGATTGTTCTTCACCGTGTGGAGTAGACTCGTTCAAATGCTCAAGCGGATGCTGTGTGAAGAAAGAGTTTGAGTGTGATGGACATCAGGAATGCAGCGATGGCTCCGATGAAAAGAACTGCCAGCAATGTAAAACGTTACACAACATAATCTCACACACACACAATCCAATGGATATACTCAAAAGTACTCAATTTGCTTTCCTTATTTTCATAGTGAACGAAAGCCTGACCCGACTTCTTAATATTGAGGTGAATAAAAAAGGTGAGTTTCGCACAATGTGGAGAAATTACCCAGCAGCAGCCTCATTTACTACATTATGTAATGGTTCATTTACATTTAGTCATTTAGCAGACGCTTTTATCTAAAGCGACTTACAAATGAGGACAAGGAAGCAATTTACACAACTATAAGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8501
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008077 | Nonsense | 312 | 499 | 6 | 10 |
| ENSDART00000123331 | Nonsense | 309 | 496 | 8 | 12 |
Genomic Location (Zv9):
Chromosome 20 (position 3254072)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 3207934 |
| GRCz11 | 20 | 3225435 |
KASP Assay ID:
2261-3896.1 (used for ordering genotyping assays)
KASP Sequence:
GKCGTTRTGTTTGTGTGGTACAGATTGTTCTTCACCGTGTGGAGTAGACT[C/A]GTTCAAATGCTCAAGCGGATGCTGTGTGAAGAAAGAGTTTGAGTGTGATG
Long Flanking Sequence:
CTGCAGATTTTACCTCCAACCCTAATCAAACACACCTGAACAAGCTAATCAAGGTTTTACAAGATATACTTGAAACACCCAGGCAGGTGTGCTGAGGCAAGTTGGAGCTAAAACCTGCAGGGACACCGGCCCTCCAGGACCGAGATTGGTGACCCCTGGGGTAGAGGCTGGATGAGCACCCACTGCATAAACTATATGATGAGTAATTGGCGGTTCATTCCATGGTGGCGACCTCTGATAAATCATGGATTAAACCGAGTGAGTGAGTGGGTTATCGTAATGTGGATTTGCTCTGTCACATGTCTGTAATGCTTTTCTTTCTCCTCCATATGTTGTCTGTCCTCAGTCAGAGCTGGTGGAGTAACGAGAAAGGTGCCTGTGGAAGGTAACTGCCTCTGAAACCCTCTGTGACAAATTCAGCTGTTGTTGTGATATTCGGTACTCAACAGTGTCGTTGTGTTTGTGTGGTACAGATTGTTCTTCACCGTGTGGAGTAGACT[C/A]GTTCAAATGCTCAAGCGGATGCTGTGTGAAGAAAGAGTTTGAGTGTGATGGACATCAGGAATGCAGCGATGGCTCCGATGAAAAGAACTGCCAGCAATGTAAAACGTTACACAACATAATCTCACACACACACAATCCAATGGATATACTCAAAAGTACTCAATTTGCTTTCCTTATTTTCATAGTGAACGAAAGCCTGACCCGACTTCTTAATATTGAGGTGAATAAAAAAGGTGAGTTTCGCACAATGTGGAGAAATTACCCAGCAGCAGCCTCATTTACTACATTATGTAATGGTTCATTTACATTTAGTCATTTAGCAGACGCTTTTATCTAAAGCGACTTACAAATGAGGACAAGGAAGCAATTTACACAACTATAAGAGCAACAATGAATAAGTGCTGTAGGCAGGTTTCAGGTGTGTAAAGTGTAAGAAGCAAAACATTAGTCATTTATTTGTTTATATATTTTTTGTAGTACAGTTAGCGGTGGAGCCAGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa3058
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008077 | Nonsense | 345 | 499 | 7 | 10 |
| ENSDART00000123331 | Nonsense | 342 | 496 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 20 (position 3253886)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 3207748 |
| GRCz11 | 20 | 3225249 |
KASP Assay ID:
554-2686.1 (used for ordering genotyping assays)
KASP Sequence:
TCCAATGGATATACTCAAAAGTACTCAATTTGCTTTCCTTATTTTCATAG[T/A]GAAYGAAAGCCTGACCCGACTTCTTAATATTGAGGTGAATAAAAAAGGTG
Long Flanking Sequence:
ATAAACTATATGATGAGTAATTGGCGGTTCATTCCATGGTGGCGACCTCTGATAAATCATGGATTAAACCGAGTGAGTGAGTGGGTTATCGTAATGTGGATTTGCTCTGTCACATGTCTGTAATGCTTTTCTTTCTCCTCCATATGTTGTCTGTCCTCAGTCAGAGCTGGTGGAGTAACGAGAAAGGTGCCTGTGGAAGGTAACTGCCTCTGAAACCCTCTGTGACAAATTCAGCTGTTGTTGTGATATTCGGTACTCAACAGTGTCGTTGTGTTTGTGTGGTACAGATTGTTCTTCACCGTGTGGAGTAGACTCGTTCAAATGCTCAAGCGGATGCTGTGTGAAGAAAGAGTTTGAGTGTGATGGACATCAGGAATGCAGCGATGGCTCCGATGAAAAGAACTGCCAGCAATGTAAAACGTTACACAACATAATCTCACACACACACAATCCAATGGATATACTCAAAAGTACTCAATTTGCTTTCCTTATTTTCATAG[T/A]GAACGAAAGCCTGACCCGACTTCTTAATATTGAGGTGAATAAAAAAGGTGAGTTTCGCACAATGTGGAGAAATTACCCAGCAGCAGCCTCATTTACTACATTATGTAATGGTTCATTTACATTTAGTCATTTAGCAGACGCTTTTATCTAAAGCGACTTACAAATGAGGACAAGGAAGCAATTTACACAACTATAAGAGCAACAATGAATAAGTGCTGTAGGCAGGTTTCAGGTGTGTAAAGTGTAAGAAGCAAAACATTAGTCATTTATTTGTTTATATATTTTTTGTAGTACAGTTAGCGGTGGAGCCAGAGAGGCAATTGCAGATTAGGAAGGGAAGTGGAGAGTAAATAGTTGAGTTTGTAGTCGTTTCTTGAAGACAGCGAGTGACTCTGCCGTTCTGATGCAGTTAGGGAGTTCATTCCACCAATAATAACAGATGAATGGGGCAATCCAGATGGATGGGGCAACTATTACTGCATCCAAAATGGGGAAAAGCC
Associated Phenotype:
Not determined