ZMP
THBS1 (2 of 2)
Ensembl ID:
Description:
thrombospondin 1 [Source:HGNC Symbol;Acc:11785]
Human Orthologue:
THBS1
Human Description:
thrombospondin 1 [Source:HGNC Symbol;Acc:11785]
Mouse Orthologue:
Thbs1
Mouse Description:
thrombospondin 1 Gene [Source:MGI Symbol;Acc:MGI:98737]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa2906 | Nonsense | F2 line generated | Not yet available |
| sa22971 | Essential Splice Site | Available for shipment | Available now |
| sa32115 | Essential Splice Site | Available for shipment | Available now |
| sa36283 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa2906
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 |
|---|---|---|---|---|---|
| ENSDART00000092683 | Nonsense | 180 | 804 | 4 | 14 |
Genomic Location (Zv9):
Chromosome 17 (position 510922)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150104.1 | 4233 |
| GRCz11 | KN150104.1 | 4233 |
KASP Assay ID:
554-2794.1 (used for ordering genotyping assays)
KASP Sequence:
GATTGTGTGGGTGACTCCAAAGCAGCCCGAATGTGCAACGCTCAGWCCTG[T/A]CCTGTAGACGGCTGTCTCTCGAACCCGTGCTTCAGTGGAGCCAAATGCAA
Long Flanking Sequence:
TTGATACAGATATTTGTCAATTGCATGAAATACAGACGCGCTGGCTGAAACTATTTTCATCGCATACCAATATTTCTCAATTCCATTAACTACAGATGCCGAATGGTACAAAAATTTAAACCAATATAAATACCGATATTTGTTAATTGCAAAAAATTTAGATGTACCTGACAACTTTGGTCTGGTACCGATTTTAGTCAAGTGCATAAACTACTACATGTTATTGGTGATAGATTTCATTTTAATCCAATATTAACAGATAAATATCGGTGGCAGATATACAGTTTCATTTCTAAAAGCCTGAAATAACGCATTATTCCTCCTGGTGTGTCAGTGAACGGTGGCTGGGGTCCGTGGTCTCTGTGGGACAGTTGTTCAGTCAGCTGTGGTGGAGGGCTACAGCGCAGACACCGCCTGTGCAACAGCCCCGCTCCAAAATATGGTGGAAAAGATTGTGTGGGTGACTCCAAAGCAGCCCGAATGTGCAACGCTCAGTCCTG[T/A]CCTGTAGACGGCTGTCTCTCGAACCCGTGCTTCAGTGGAGCCAAATGCAACAGCTTTCCTGATGGCTCCTGGAGCTGCGGAGAGTGTCCGGCTGGGTACACTGGAGACGGGACACACTGCGAGGACATCGATGAGGTGAGAACTTTGCTTATGTGTAACAGGTAAACATAAACAACCAGAAAAGAGGTTGGTGTCAGGGTCTTTAAATCAAGTGATTCATCTTAAAGAGACAGAACTCACATCAAGGGCTACTAATACAATGCTTCCACTTAGCTTTGTTAGACAAACATAAGCTCGAGTAGGTGTGGATTAAGAAAAGTGTTTTTTATTTTGAATGTTGCTGATCCAGCAGTCTGTATGGGACTGGAGAGACCATTCCACCAGTGAGGAACTGTAAAAGAAAAGGTTCTGGAAAGTGTTTCAGAGGGAATGAAGATTAGAGGAAATAAGAGGAAGTAAGAGGTAGTGGCTGGTTGTAAAAGGCCTCAGTCCTCCGTCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22971
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000092683 | Essential Splice Site | 350 | 804 | 7 | 14 |
Genomic Location (Zv9):
Chromosome 17 (position 513412)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150104.1 | 6723 |
| GRCz11 | KN150104.1 | 6723 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCCGCAGCATGTGAAAATCTTCAAAACTATGAACACACGTCCTCTTTC[A/T]GGATAACTGCCCTGACCTTCCCAACTCTGGACAAGAAGACTACGACAAAG
Long Flanking Sequence:
ATTAGATTAGGATTGAATTGCTATATAGTGAAGTCAACGTTTAATGGTTAAGGGGTTCAAATCTATCTTAAGTGTCTGCTAAGAATGACTGACTAATGTAAATGGGGTTAAATTGTTTTCTCGGCAGGTTTGCACACCAAGAAACCCATGTGCTGACGGCAGCCATGACTGCAATAAAAACGCCAACTGCATCTACCTGGGCATCTTCTCAGACATCATGTTCCGCTGTGAATGTAAACCTGGATACGCCGGGAACGGCCACATCTGTGGGGAGGATCCAGATCTGGACGGCTGGCCCAACACAGACCTACACTGTGTGGAAAACGCCACTTACCACTGCAAGAAGGTATGTTTGACTGTGTTCATTTAACCTTTAGGACGTCACTGATGCAAATTGGGATGCACTATTACTGTTTTCCAATACGGTTTAGCACAGAGAGAGTGTGAATTGTGCCGCAGCATGTGAAAATCTTCAAAACTATGAACACACGTCCTCTTTC[A/T]GGATAACTGCCCTGACCTTCCCAACTCTGGACAAGAAGACTACGACAAAGACGGCATTGGAGACGCTTGTGACCATGATGATGACAATGATGGGATCCCTGATGACGGGGTGAGTCTTAAAAACACATTCCTCTTCTCAAACAGCATTTAGCATTGCTACTGCACTGCAAAACAATGCCTTTCTTACTTAGAGCTTCTGTCCTGTTTCTAGTCCAAATATCCACAAACCCTTCAATAAGTCAGCATTTACTAGAGTAAACGATATAGTGCTGTTTTCAGAATAATGAGTCAAAATGAAGAGAGTTTATCAGTAAAACAAGCAGAATAATCTGACTATGGGGTGGGTGAAATAATGTTGTTTTGGCCTTGAAAGAAGACTATTTGTATGGAGCCATATAAGTCTCAAAAATAACACATCTGCAGAATAAATTCATGCATGCACATTTTATTAATTGCATTTGCATTAACAAATTAGATTTGTGTATTTATAAATAGCATTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32115
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000092683 | Essential Splice Site | 439 | 804 | 9 | 14 |
Genomic Location (Zv9):
Chromosome 17 (position 517640)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150104.1 | 10951 |
| GRCz11 | KN150104.1 | 10951 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACAATTGATGGATGGAAACACAGCCAGTGACGTTGTTATTTGTTTGTCC[A/T]GGCATTCTGAATGAGAAGGACAACTGTCCATATGTGTACAACACCGACCA
Long Flanking Sequence:
TCCAGGCTAGGATCGAACCAGCGACCTTCCGCATGAGAGTCAGTTTCTCTACCAAGGAGGCTAAAGACCATGGCAAGTGAATTATACTATAAAGTCATGGTGTACACAACTGTCTCTGGGCTTGCTGCATTACAAATACCAAAAACATTAATCACTTTCTGGCCATCAGATATTAGGCATGGATATATATATATATATATATTGCTGTTGTGATTTTCGAAAGTATTACAGCGCTTAGTAAATGTTTATTATTACCACTTGATGAGTCTCCACATACAGTTTGATAGAGCGTTTGGACCCGGAAGCTGCTACGCTCGACATCACACTTAACAAGCGGACATAAACAAACATTAAAATCATAGAAGCGTTTCTAAGAAAGTGCCTGATGCATATAGAGGAAAGAGAGTGTTTTACAGGTGTTGTTTCAATGCGATAATCCAAAATGTGCAGTACAATTGATGGATGGAAACACAGCCAGTGACGTTGTTATTTGTTTGTCC[A/T]GGCATTCTGAATGAGAAGGACAACTGTCCATATGTGTACAACACCGACCAGAGAGACACTGACCGGGACGGAGTCGGGGACCACTGTGATAACTGCCCACTGGAGCACAACCCTGACCAGGTCTGATCTTATTATTATTATAGTCACACCCACATATATTATATAGAGCCACTGCATAAATAAACCATCATAAAAAACAGAAACAATATTATAGAAAGGAGGAATTTAAGGTTGAAGAAAACAAGTAGTGTAACACGATTTGTTGTACATTCACAAGTACACATCGTTTACCTTACTGAGTCTGTAAGTTTAAGCCAAGTGTCTGGTGCATATGGAGAGACGAGTGTTACTGCAGGTGGGGTTTACAGTAAATACCATCATGCAGTCAAACATGGCACTCTACCAACCTTAAACCACTTTAAAAGTATTGTAGGTGCCGGTATCACAAGGATGTGATATGTGATTCTACAATGTTTGCTTTAAAATAAATCACTGAAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36283
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 |
|---|---|---|---|---|---|
| ENSDART00000092683 | Nonsense | 801 | 804 | 14 | 14 |
Genomic Location (Zv9):
Chromosome 17 (position 521789)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150104.1 | 15100 |
| GRCz11 | KN150104.1 | 15100 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCGTCTTCTCTCAAGAGATGGTTTACTTCTCAGACCTCAAATACGAATG[C/A]AGAGGTAAAACTCAGTTGATTGCTTTTTTTTTTTTAAAGATTAATGCTTT
Long Flanking Sequence:
TAACAAAACATCTCCACCATTTTTCTCCTGCATATCTTCTATTATCTCATGTATTTTCTCTTTCTACAAAAATCAAAAGAGGGTTCCAAGAATCTTCAAAACACCTCACATCTGTCTTTAATGATGTACATTAATTTCTCCAGTGAGATATCTCCTGCATCCACATCTCTATACTTGATGCCTCCATGTTTTTCCAATGGAGCTCTATAAGCCGTTTAGCTTGTAAAATGCACACATCTACAAAAAATATATCCTCTTCGTCTCAAAGTTACATGCTGGAATAATATAATGTAATAAAAATTTGGTTCAAGAGGGATTGTGGTTACTAACCAAGTTTAACTCCTGCTCTACTGATTGATTTCCAGAGTTATTATGTATGAAGGCAAGAAAGTGATGGCGGATTCCGGAAGTGTCTACGATAAGACATATGCGGGAGGAAGACTCGGGCTGTTCGTCTTCTCTCAAGAGATGGTTTACTTCTCAGACCTCAAATACGAATG[C/A]AGAGGTAAAACTCAGTTGATTGCTTTTTTTTTTTTAAAGATTAATGCTTTAAATATCATCAAAGTACCTTTATTACATGCAAATTCCCAACAAATGAGCCTGTTCATACACAATCTCTATCCTGAACATTGATAGAATGAATTTACTTATATTTTTAATAAAGTCCTTTACCGATATTTTTAAAAAGGGACTGTTCACACAGAATCTCTGTTCCAAAAATTGGCAGAATGAATTTACCGATATTTCTAATAAAGTCCTTTACCGATATTTTTAAAAAGGGACTGTTCACACAGGATCTCTATTCTGAAAATTGGTGAAATGAATTTACCGATATTTTAATTAAAGAACTTTACCGATATTTTTAAAAAGATCCTGTTCACACATGATCTCTATCCCAAAAATTTGCAGAATGAATTCACCGATATTTAAACAAAAAATCCTTCACCGATATTTTTTCAAAGGAACCAGTTCACACAGGATCTCTATCTCGAATTTTTTGG
Associated Phenotype:
Not determined