ZMP
bms1l
Ensembl ID:
ZFIN ID:
Description:
ribosome biogenesis protein BMS1 homolog [Source:RefSeq peptide;Acc:NP_001104620]
Human Orthologues:
AC126335.2, AC126603.2, AC142384.1, AL512662.1, AL589182.2, BMS1
Human Descriptions:
BMS1 homolog, ribosome assembly protein (yeast) [Source:HGNC Symbol;Acc:23505]
Putative BMS1-like protein ENSP00000383048 [Source:UniProtKB/Swiss-Prot;Acc:A8MXU9]
Putative BMS1-like protein ENSP00000383088 [Source:UniProtKB/Swiss-Prot;Acc:A8MV67]
Putative BMS1-like protein [Source:UniProtKB/Swiss-Prot;Acc:Q6IPT3]
Putative BMS1-like protein ENSP00000383048 [Source:UniProtKB/Swiss-Prot;Acc:A8MXU9]
Putative BMS1-like protein ENSP00000383088 [Source:UniProtKB/Swiss-Prot;Acc:A8MV67]
Putative BMS1-like protein [Source:UniProtKB/Swiss-Prot;Acc:Q6IPT3]
Mouse Orthologue:
Bms1
Mouse Description:
BMS1 homolog, ribosome assembly protein (yeast) Gene [Source:MGI Symbol;Acc:MGI:2446132]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa27975 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa9116 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa35313 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa27975
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 |
---|---|---|---|---|---|
ENSDART00000053761 | Nonsense | 62 | 1221 | 3 | 23 |
ENSDART00000102261 | Nonsense | 59 | 453 | 3 | 11 |
ENSDART00000126367 | Nonsense | 59 | 515 | 3 | 12 |
ENSDART00000130032 | Nonsense | 62 | 1221 | 2 | 22 |
ENSDART00000130172 | Nonsense | 62 | 549 | 3 | 10 |
Genomic Location (Zv9):
Chromosome 12 (position 30789252)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 29126189 |
GRCz11 | 12 | 29241091 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAATGATTTTTCATTCATTTTAATGGCTCTTAATGTTGTTTTGTAGGGCA[C/T]AGGATATTAAAACAAAGAAACATCACATTCCCCTTGTTGACCGGACGCCT
Long Flanking Sequence:
AATGTGCAGTGAAAAACATGTAACAACCTTGCTTCTTTAGTTAGATTTTTCTATTAAAATGAATGAGAATTGAGCCCAGTCAATTGCTAAACATGAAACATCTGCATCTGTGAAGTCAAAGCTCATTGCAGACAATCTGTCTTATTCTCCACACAAGAGCAAAGATGGAGAAGATGGAGAGGAAAGAGCAGAAGCGCCACCAGCACAAGCACAGCGGACCCAAAGCCCAGAAGAAGAACAGAAAGAAGGAGCAGGGCACCGAACCAGAGCAGGATGAGCGCAAGAGGAACCCACGAGCGTTTAGTGTCCAGTCAGCTGTGCGCATGGCAAAAACCTTCCATCGGTTAGTGTTCAGACATCTTTAAAGTTCCACAGTTTTTTTCTTTATCCAGTGTATCAGCAGATTTCTATGTCAATAAGTGCATAGCTTTTACTTTTATCACTAAAGGAGAATGATTTTTCATTCATTTTAATGGCTCTTAATGTTGTTTTGTAGGGCA[C/T]AGGATATTAAAACAAAGAAACATCACATTCCCCTTGTTGACCGGACGCCTCTGGAGCCTCCGCCTGTTGTTATAGTGGTGATGGGACCTCCTAAAGTGGGCAAAAGCACTCTGATTCGATGCTTGATCAAAAACTTCACACGCCAGAAGCTTTCTGACATCTGTGGACCTGTGACTATAGTATCTGGTCAGTTTTCTAATACATTATGCAAGGTTATGATTAATTGTTCTCATTTAAACTAGTGGTGTAACGGATCACAAATCTCACGGTCCGGATCAAACTATGGTTTTGAGTCACTGATCGGACCAGAGCCAGCTGAAAAAAAGGAAAATATTTAATACGAAAAATTATCTTTGCTGCTCTTGCAGATGAGGCTAAATATAGAAATTCAGCATCTTGTACAACATATCATATTTATTTTCAATTAATGACTCAACAATTCACAGATAAAACTTCATGTTTCATTGGTGGATCATTTTGGAAAAAATACTCAGTGACGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9116
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 |
---|---|---|---|---|---|
ENSDART00000053761 | Essential Splice Site | 213 | 1221 | 5 | 23 |
ENSDART00000102261 | Essential Splice Site | 210 | 453 | 5 | 11 |
ENSDART00000126367 | Essential Splice Site | 210 | 515 | 5 | 12 |
ENSDART00000130032 | Essential Splice Site | 213 | 1221 | 4 | 22 |
ENSDART00000130172 | Essential Splice Site | 213 | 549 | 5 | 10 |
Genomic Location (Zv9):
Chromosome 12 (position 30792332)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 29129269 |
GRCz11 | 12 | 29244171 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAAACAAAGAAACGCCTYAAAGACCGGTTCTGGACTGAAGTTTTCCAGG[T/C]ACGTCAGAGACCMTTTWTTTAACAGACTTATCWTTGAAGAGAACTGTATA
Long Flanking Sequence:
GAGAGAGAGAGAGAGAAAGAGTACTATGAAGTACTTTCATTCTCTCAATCTCAGTGAAATAGGGGCTTTTGCTGTATATGTCAGTGAAAGACTGTTCCAGCAAACACACACAGTGAAATTGTGCACAGAGCGCATATGAGATAAATGACGTCAATAATAACTGGTTATGATTATTACTGAACCGATACCGAATTGTCCGCGTCTCCATCGCGGTGCACTGAAGAAACAATTAATTTTGACACCCCTATTATTTGATCAACAGACTGTGTTATGTTTTCTTTTAAGACTGTTCTGTTATTTGACTTATTAGGTTCTGATGTTGATTGATGCAAGTTTTGGCTTTGAAATGGAGACCTTTGAGTTTCTGAATATTTGCCAAGTTCATGGCTTCCCTCGGATCATGGGGGTCCTCACACATTTGGACTCCTTTAAGAACAACAAGACACTCAGAAAAACAAAGAAACGCCTTAAAGACCGGTTCTGGACTGAAGTTTTCCAGG[T/C]ACGTCAGAGACCCTTTATTTAACAGACTTATCATTGAAGAGAACTGTATATTGTCTGAACAGTGAATCTTGCAGGGCGCCAAACTCTTTTACCTGTCTGGAATGGTGTACGGAGAGTATCAGATACAGGAAGTGAAGAATCTTGGCCGTTTCATCTCGGTCATGAAGTTCAGGCCTCTTGTCTGGCAAACATCTCACCCCTATGTTCTGGCTGACCGGTGAGTGAACAGAAAAACAAATTGTACATAGGAGTTTTTGCAACAGAGGAACATTTACATTGTGCCCATTTAACTATTGAATAAAGTACTTGTCTATGCTGTGTTTGCACCACAGTAACTGAGAGTTGTTTTAATTTTAGGATTGTGTTATAGTTGAACTTAATTAGAGCTTACTTCAGAGTAGGGTTTAACTCAAAAGCATTGTAGGAACTACAGGTAAACTAAGTGATTGATGCTGCTTGGTCAAATCATGCCACAACACTGGCACAGTATTTTAAAGTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35313
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 |
---|---|---|---|---|---|
ENSDART00000053761 | Nonsense | 1169 | 1221 | 23 | 23 |
ENSDART00000102261 | None | None | 453 | None | 11 |
ENSDART00000126367 | None | None | 515 | None | 12 |
ENSDART00000130032 | Nonsense | 1169 | 1221 | 22 | 22 |
ENSDART00000130172 | None | None | 549 | None | 10 |
Genomic Location (Zv9):
Chromosome 12 (position 30817554)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 29154491 |
GRCz11 | 12 | 29269393 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCTCTGACCACAGTCTACTCATACAAGACTAAGAAGGCGATTGCAGAA[C/T]AACGCACCAAACACAAAGAATTCCTGAAGCAGAAAGAGAAACAGGAAGCG
Long Flanking Sequence:
TATACAGGTTGTATTAAATATGAACAGAGATTTACAATAAATGAATATATGTACAGGTTGCTGTTATAAATCAGGGTATGCAGATTGATATGAACATAATTACAAATGTATGTGTGCAGTGGATATGTACAATTCAAGATGAATAAATGCAATGTAGTACGATGAATATGTGCAATTATAATTGTGCAAATATTAAATAATATATAATGCAGTGTTTATGGGGAGTGTAAGTGTAAGTTATGAAAAGAGTGTGGGGGTGTATGTATATGTATACATTTTATCTCATTTTAATTCATGCTGTTGTAAACTGCATTATATATTATTAACTGCATACAAATACATTGGTAACATTTTTAAAAGTGTTTGTGTGTTTATAGACAAAATATGTCCTTTTTTCTGCTTTTTTAATGAAATCCTTCAACCTTCTCCACCAGGTGGCAGCATTGCTCGATGCTCTGACCACAGTCTACTCATACAAGACTAAGAAGGCGATTGCAGAA[C/T]AACGCACCAAACACAAAGAATTCCTGAAGCAGAAAGAGAAACAGGAAGCGGAGAGACAGCAGAGACTCAAAGTGGAGAAAAAGAAGACCTACCGCGCAATGGGACAAAAGGAGAAGAAGAAGCTCAAATCCAGCCTGAAGGGAACATCCAAGGACAATTGAGTCTAGCTCAGCTCACACCTCCTTCAGTTCCAGACTCCAAGCCCGTCGGATCAGGTTGTTACGCTCAATATTAGACTGTTTGAAATGCGCTATAATTGGATTCTCACAGCAGCTGCTGTTTGTAAGCTGGATGAGGAGTCAAGATGATGACGCTGCACGAGACCTGAAGATCGGTTTGGTTGGAGTATTAAAGATGCAGTTTCCACAGAACTGCCGGGGTAACTTTTGCTGGCAATTCTTTACAATAAGGTTCAATTGTTAAAATTAATTTATGCTCTTGATGGTATAATGGACTATTAGGATTTCATTTCTGCATTTATTAATCTAGGATAAAGAGAT
Associated Phenotype:
Not determined