ZMP
SFMBT1
Ensembl ID:
Description:
Scm-like with four mbt domains 1 [Source:HGNC Symbol;Acc:20255]
Human Orthologue:
SFMBT1
Human Description:
Scm-like with four mbt domains 1 [Source:HGNC Symbol;Acc:20255]
Mouse Orthologue:
Sfmbt1
Mouse Description:
Scm-like with four mbt domains 1 Gene [Source:MGI Symbol;Acc:MGI:1859609]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa35056 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa8532 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa44737 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa35056
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041725 | Nonsense | 113 | 869 | 2 | 19 |
Genomic Location (Zv9):
Chromosome 11 (position 18736277)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 18153591 |
GRCz11 | 11 | 18315933 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGGTGCGACATCATGACCGCTGACCTGCACCCGATTGGATGGAGCAAA[C/T]AGCAAGGTCGAATGATGAAACCTCCAGAGGGTGAGCAGAGATTTGTGGGA
Long Flanking Sequence:
CTATGGTACATCAGCAAAGTTTCTTGATTATTATGCCTTTTTTCTAAAAAATTGTTCCTTTAACTCGACCCAGCATCTTAAAAATGCAGCACTCATGTAAAATAAAATAAAAACAATGGAAATGTAGAGCATTGTAATGGTAAAATGCATTCTGTGTCATTGACCCCTAACACTGCTAGTTGCACTAAAAAACTTTTTACCTCTTTACCTGTTGTTTACACACCGACTTCACCTGGCAATGTGTCGGTTCAGATCATTTGCTCAGTCTGGTGTTTTTTCTTTTGCAGGTGGACCAGGGCTTGGAGACAGGTCTGACTCCTGGTATGAAGCTGGAGGTGTGTGTGCGCACTGAATCTGAATCTGTGTACTGGGTGGCCACAATAATCACCACCTGCGGACAGTTGCTCTTACTACGATATGAGGGCTACCAAGATGACCGACGAGCAGACTTTTGGTGCGACATCATGACCGCTGACCTGCACCCGATTGGATGGAGCAAA[C/T]AGCAAGGTCGAATGATGAAACCTCCAGAGGGTGAGCAGAGATTTGTGGGAACTGGGGACGGAGCAGTTTTTGCAGCAATCTCATATTTATAAGTAAACATTCATGCTGAAGCTGCTTGAAATGCACAGCTTTGTTCAGTGTGGGATGTAATTCCAACTGAAATGTTGGAAATGAAAGACTGGATGGAATATATCGAGTTGCAAATTTAAAAATAACTAATAATATTTTGTTTCAGATGCTAAAGAGCATTTGATTCATCAGAACATGTTATAAGAAGCTGTATACAGTCAGTCTTGTTCAGGGCCAGACAGAATCTGCAGACCTTTTCAGCTATATACGCAGAATTTTGTTAAAAAAGGGTTAGGATGGGTTAAGATTCCTTGCCCATTAATTGCCTTTTTTTGTAGGATTTTTTCCATGTCATACCATCTTATAAAGATATAATCTGATAATATAGCTCTTATTGTACTCATGCCCAAGTGACTAATATTGCTTTGGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8532
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041725 | Nonsense | 456 | 869 | 10 | 19 |
Genomic Location (Zv9):
Chromosome 11 (position 18710403)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 18127807 |
GRCz11 | 11 | 18296671 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACAGACTCCATGGATATTTTCCCAGTGAGCTGGTGTGAGACAAATGGTTA[T/A]CCTCTACTGCACCCCTGCAAGCCCAGAGGTCRGTTTTAMAGCATAAACTG
Long Flanking Sequence:
GTTGCTAATATGACTTTAAAATGTTAAACTCTTTTGAAATGTTTTTGTAGGACCCATCCGATCAGTGCATCAAAGAGTCCATGATGCTGGAGGCCGTCAACCCAATTTGTCCTGAAAACATCCACGTAGCCACTGTTACCAAGGTCAAAGGTCAACACATGTGGATTCGATTGGAAGGTGTGAATTCAACACTCTTCTTTCTGCAGTAAATCAGCTCTTAATGACCAGAAATAATTATGCAGAGTCTGCTTGTACAGGCTTCAGAGGATACTAACAAAGCCAGGTCCTTGATTAAAAATAGCAGGACCACTAATGCACTAATTTAAGACTGGGCTTAACCCTTTATAGACATCACAGAAGGTCAGTAGGCGTGAGGATTAGTGTCATTTATCTCTCCCTTACACTCTTCGCTCAGGTCTGAAGCAAGCCATGCCAGAGATCATAGTTCACACAGACTCCATGGATATTTTCCCAGTGAGCTGGTGTGAGACAAATGGTTA[T/A]CCTCTACTGCACCCCTGCAAGCCCAGAGGTCAGTTTTACAGCATAAACTGAGCAATTTCAGAGAAACTACTGAGCACACAAAATACTACTTAAACTAAAATGTATATATGACATCTAGAGACTTAAATTCTTGTTTTATGTGTTGCAGTGGAGAAACAGAGAAAGGTTGCAGTTGTTCAGCCAGAGAAACAGTAAGTAAGACAAAGAAAAGAAAAGAAAAGAAAAAAGTTTCTGTCATAATTTATTTAACCTTGAGATATTACAAAACAGTAAGACCTTCTTTTACTTTCCCAATGCAAATCAGATAAATTTCTGTTTCTTCATTCAAAGTCTATACTTGCTTCTATGTTTGAGAGCCAATGAGGTTTGTTTTTGATTCTGGTGATTTTAAAATAATTTATTGTAAAATGGTGGTTGCAGTAATCTAATGTATTGTGATGGTTCTGTAATATTGTAAAGAAGACGGTATTTTGCAATATATATTTTTTTCAGAGTAAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44737
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041725 | Nonsense | 569 | 869 | 14 | 19 |
Genomic Location (Zv9):
Chromosome 11 (position 18705961)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 11 | 18123365 |
GRCz11 | 11 | 18293156 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACGCTACTGATAAACTCCGCTTATAAACCCAGTCGAGTGCTGAGAGAAT[T/A]GCAGCTGGACCAGGAGGGTCGCTGGCAGGGCCATGGAGAGACACTTAAAG
Long Flanking Sequence:
AGTATTTTGTTGAGAAATACTCTATATAATTATTTGGTCACACTTTACAAAAAGGTTTCATTAATTATTGTAAGTTAATGCATTTTAATAACATTTATTATAAATTAAGAACGGACAAAACATGTACAGGATTTGTTGATCATTGTTGAACATTTACTAATAGATTATAAAAATCTAAATTTATGCTTGCTAATATTACTTAGTTCACATGAACTAACAATGAACTGTATTTGCATTAACTAATGTTAATGAACATGACCATTACTATAATAAATGTTTTGTTCACTGTTTTTTCATGTTAGTAAATGCATTAACTTACATGAATTAATACAACCTTATTGTAAAGTGTTATCAATCCTTTTTATAAATGATAAGTTATGAAGCAATTAATTGAATCTACACTTTGTGCTATTGATGCTAACCTTTTGACCCGTGGCCTGTGCAGGTGCTGACGCTACTGATAAACTCCGCTTATAAACCCAGTCGAGTGCTGAGAGAAT[T/A]GCAGCTGGACCAGGAGGGTCGCTGGCAGGGCCATGGAGAGACACTTAAAGCAAAGTAAGAAAACGGTTTTAAAAAGCAGAATTTAGCCCAAAATTCAATTCTGTCATTACCCCTCCAGTACTTCACTTGTTCCAAACAAGTTTCATTTTATTATTTTTTTTGTTAAACGAAAGATATTTTAAAGAATGTTGGAAAATGTTGCCATTGACTTCCAAACTATTTTTCATTCCACCAAAGTCAATGGCTGCCAGTGTTGAACATTCTTCAAAATATTGTGTGTGTGTGTTTGTGTTTGTGTTTGTGTTTGTGTTTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAAAAGAAAGAAAACAACAACAAAAAATCAAACTGTTTTGG
Associated Phenotype:
Not determined