ZMP
sh3glb2b
Ensembl ID:
ZFIN ID:
Description:
SH3-domain GRB2-like endophilin B2b [Source:RefSeq peptide;Acc:NP_957413]
Human Orthologue:
SH3GLB2
Human Description:
SH3-domain GRB2-like endophilin B2 [Source:HGNC Symbol;Acc:10834]
Mouse Orthologue:
Sh3glb2
Mouse Description:
SH3-domain GRB2-like endophilin B2 Gene [Source:MGI Symbol;Acc:MGI:2385131]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20457 | Nonsense | Available for shipment | Available now |
sa1938 | Nonsense | Available for shipment | Available now |
sa30861 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa16553 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20457
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098172 | Nonsense | 77 | 373 | 3 | 10 |
ENSDART00000134427 | Nonsense | 77 | 238 | 3 | 7 |
ENSDART00000147065 | Nonsense | 77 | 402 | 3 | 12 |
ENSDART00000147779 | Nonsense | 77 | 397 | 3 | 11 |
The following transcripts of ENSDARG00000035470 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 33316031)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 31078263 |
GRCz11 | 5 | 31678416 |
KASP Assay ID:
2259-6014.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTACTGATGTGAATGTTTGTTCAGGTGCCCGTATTGAGGAGTTCTTCTA[T/A]GAGAAACTAGACAAAAAGATCCCATCCAGAATCACCAATGCAGAGCTGCT
Long Flanking Sequence:
ATTGTTGTCAATTTGTCAAAGTTACAAACGGTAAATTTTTTTGATGCCTGATTGTCTTTAAAACCCTCACACAGTCATAGGCCATAAATTATAATCCAGACCCAATATTGAATATACTTGCGATGTGACTATTGCAAATGATCACATTGCAATATCAATGCTAAAACTATATATTGTGCGGCCCTATTGTGTATAAAGAAACACTTAAAGGTGTTAACATACTGGATTGTTTTTCAGTCATTATTATTCATATTGTTAAAGTTTGCTTTGCCTGCAGAGTCTTAAAGGTTTACTTCTAATATAATTAAATGTATCTAACATTTTCACAATTAGCTGGTTGTGGGCTGTTTTGATATGGACATGTAACAAACAATCAATGGTTTAATTGATAAATTGATGTGCTTTAGTTTATTTTACTGAAGAAAAACTTGGATATAGCATTGCGTCTGTCTTACTGATGTGAATGTTTGTTCAGGTGCCCGTATTGAGGAGTTCTTCTA[T/A]GAGAAACTAGACAAAAAGATCCCATCCAGAATCACCAATGCAGAGCTGCTGGGACAGTACATGCAGGATGCAGCGAAAGACTTTGGGCCAGGATCTCCATATGGTTCGTATAACAAACCGCATCAAACTTAATGTGATGAAACCTTTTTAGTTTTATTTGTAATCAAACATTATTCAAAAGTGAATAGGTTAAGGCAACACGGTGGCTCAGTGTTTAGCACTGTCGCCTCACAGCAAGAAGGTCACTGAATCGAGTCCAGCTGGGTTAGTTGGTATTTCTGTGTGGAGTTTGCATGTCCTCCCCGTTTTTGCGTGGGTTTTCTTCTGGTGCTCCGGATTCCACTACAGTCCAAAGACAAGTGGTATAGGTGAATTGAATAAACTAAACTGGCCGTAGTGTATGTGTGTGTGAATGAGTGTGTATGGATGTTTACAAGTACCGGGTTGCAGCTGGAAGGCCTGTGTGAAGCATATGCTAAATGAGTTGGCGGTTCATTCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1938
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098172 | Nonsense | 134 | 373 | 4 | 10 |
ENSDART00000134427 | Nonsense | 134 | 238 | 4 | 7 |
ENSDART00000147065 | Nonsense | 134 | 402 | 4 | 12 |
ENSDART00000147779 | Nonsense | 134 | 397 | 4 | 11 |
The following transcripts of ENSDARG00000035470 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 33309544)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 31071776 |
GRCz11 | 5 | 31671929 |
KASP Assay ID:
554-1926.1 (used for ordering genotyping assays)
KASP Sequence:
CTGTTGGAGAGTATCAAAAGAGGCTGGGTGGATCCGAGCGGGAATTTCTA[C/T]AAACATCAGCCATCAACTTCCTTACACCTCTGAGGAATTTTCTGGAGGGT
Long Flanking Sequence:
CACAAGCAAAACATATGTGAAAGATAACATTGCAACAAGATTTGAAGCTGGACTGCCGATGCTACACTTTACACGAGAACTGCAAGTTCAAGAGTTTCATATTTGATTCCTACAGTGAGTAAGGAGCTGTGATTGAACAATATGAATAAAAAAAAACCTGCGATAAAATTTTCAGATTTAGTCCAGTTGCTCATGTGCTCCTATTTTTAAATCAGTGAAGTTTCGACTTCAGGTGACTCAAAGACTTTTTTTTTATCTACATCTGATAATCTTATTACACACAATTCCCATCTGAATAAAAAAAATAATGGCAAGCAAATTAGACAAAGCAGTCAGTATTTCATGAGATGCTCTTCGTCAGATTAACAGGAAAAGATAATTATCAAGCTCAGCTACATGTAAGGTTGTCTCATGAATATTCGTCGGTATTTACAGGGAGTACATTGATCACTGTTGGAGAGTATCAAAAGAGGCTGGGTGGATCCGAGCGGGAATTTCTA[C/T]AAACATCAGCCATCAACTTCCTTACACCTCTGAGGAATTTTCTGGAGGGTGACTGGAAAACCATTTCCGTGAGTATACAATCCTTAGATCTCAGGTGGTTTACTTCCATCTGATGCACTGTAAACAAGACATATGCGATTACATCTGTTTGTTACAGTCTGGTTACCTCCAGTACAACTTCAGCAGAACTTTGACATTTGTAGTTAATGGTTTAAAAATCCCCCCCCAAAAAAATCATCATTTATTTACCCATGACTTGTTCCAAACAAGTTTCTTTCTTTTGTTAAACACAAAAAAAGATGTTTTGAAGATAGCTGGAGACCTGTAACCGTTGACTTCCACAGTATTTTTCTTGCGGCTTTTCAACTTTCTTCAAAATATTCTTCCTTTTTGTACAACAGAAGAACGAAACTCCTAAAGGTTTGGATCCACTCGAGGGTTAGTAAATGTTTTGGCCAAAGTATCTCATTAGTACTTTCAGACAGAAGGACACCCTGACC
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa30861
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098172 | Essential Splice Site | 187 | 373 | 5 | 10 |
ENSDART00000134427 | Essential Splice Site | 187 | 238 | 5 | 7 |
ENSDART00000147065 | Essential Splice Site | 187 | 402 | 5 | 12 |
ENSDART00000147779 | Essential Splice Site | 187 | 397 | 5 | 11 |
The following transcripts of ENSDARG00000035470 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 33307924)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 31070156 |
GRCz11 | 5 | 31670309 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCAAAGCTCGGCTCAAGAAAGCAAAGTTAGCAGAGGCCAAGGCAGCTG[T/A]AAGCTCTTATTTTGACTTATCTCAACATCTTTATGGTCACAAGATTTCGT
Long Flanking Sequence:
AATGTATTTTTGTATGTGTACATGTGGGTATGTTTATGTGTGATTCAATTGTTTGTATTAAATGCCAAACTTTGGTGCAAAAAGAATCTACCTACGGGTACCAATAAAGTCAACTCAACTCAACTGTACATTTGTACTATATTGTATTTTATTCAGATCATCAAAATACATGTACATCTGTAAAGCTTTATATGAATGTATATGATTTTGGCAGTGACCTTTTTGCACATTACATATACTTACTACAGTAAACATTATGCATAGATGCATGCAGTAACCCTAGCTCTAGTAAATGCATTTTATAGTTAAATTTTTTTATTCATACAAAAACGATTGATTTGACGTTAAAGCAAAGTGTATTTCAGTATCAAAGTCAAAGTCGATCTTTTTTTCTTGTTGTTTTCAGAGAGAGAGACGGCTTCTTGAGAACCGACGTCTTGACCTGGATGTTTGCAAAGCTCGGCTCAAGAAAGCAAAGTTAGCAGAGGCCAAGGCAGCTG[T/A]AAGCTCTTATTTTGACTTATCTCAACATCTTTATGGTCACAAGATTTCGTCCTGTAACCGCCCACAAAGCACGATTCCGATCTCTCGAGGGTCAATTCAGGAAGTGGGCTGTCCAGCAAGGACACTCGCTGTTTAGACCAAAATCCAAATCAAATATACACTTGAAGAACCTCTAAATAGACTATTACTGTTACAGTTATTATAATAGATTTTGAGAAATGAGTTGATTCATTTTCCAATGAGCAATACATTTGTATAGTTTCACTATTTTGACAATCCTGTTTAGACATTGCTTTGCAAGTACATGTCAACTAATTCTACTAACCCAAAATCAACAGTTTACAAATATTCCAATGAGATTTAGTTGCTATATTGGTCAACAGAATGTCTATTAAAGACCATTTAAAATGAAGTGTTACCTTATATATAAATGGTAACTCGGCTCAGTGGTTAGCACTGTCACCTCACTGCAAGAAGGTCACTGGTTCGAGTCTTGGCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16553
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098172 | Essential Splice Site | 339 | 373 | 10 | 10 |
ENSDART00000134427 | None | None | 238 | None | 7 |
ENSDART00000147065 | Essential Splice Site | 368 | 402 | 12 | 12 |
ENSDART00000147779 | Essential Splice Site | 363 | 397 | 11 | 11 |
The following transcripts of ENSDARG00000035470 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 33282866)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 31045098 |
GRCz11 | 5 | 31645251 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGGCGACACACCCAAGGGTCTTTTTCATGTTATTGTTTGTTTCTTTGTA[G/A]CTGATTACGGTGTACACGGTGCCCGGCATGGACCCAGACTGGCTTATCGG
Long Flanking Sequence:
TGAGAATTTCAATTCTGATCTGAGAAATAAACCAAAGTGACTAAGAAAAAAAACTGGAAATATACATTTGTTCTATATCATTACTTGGCTTTTATCACAATAAAAATGTTCTTTAAATAAGGTTTATTTAATATAAAAATAGTATTGGGATTGGGCCTAAGGGGTAGAGTTGGGATTGGGCCATAATTTAAACAAAAGCCAATGTCAAAGACACTGTAGATAAAGTAAATTCATCTTGAAACCATTAGGAATCAATTAACCGCCTCTATTTTGCCCTCTTGGTGGCTTTCTTGCAGTCTGCATCACTCATCCGTCTCTGACATGCACAACTGTATTCTGGAAAAGTTTTAAAAGAATGTTTACAAATGTTTTCCATCAATGTGCATCTATTAACTTTTGTTCCTACACATCTGCTACTACGTTATATGTAGAATATGGAGGAATGTGCTGATGGCGACACACCCAAGGGTCTTTTTCATGTTATTGTTTGTTTCTTTGTA[G/A]CTGATTACGGTGTACACGGTGCCCGGCATGGACCCAGACTGGCTTATCGGAGAGCGAGGCAACCAGAAAGGCAAAGTGCCTGTCACATACCTGGAGCTTCTAAGCTAGACGTCCCGTCCTCAAACACGAAATCACACAGAAATATGCATGAACAAATACTCAAGCACTGCTGAACACTCAGTGAAATTATCCCTTTCTTTTTTTTTTTTTTTCGAGATTCACATCTAGGTCTGTTGTGTTCTGATGTTACTGTGCATAAAACGTTTTGTTCTATGTGTATGTTGTTTCATTTGAGGACCATCCTGCGTAAGCCATTACTTCAAATAAGGAGGTTTTATTTCGTGACTGCTAGATTTCTACCAAGCTTTTCTTACCCTACAAATTGAAGAACACAAAACCGAAAAGCTTTTGCGCTGGAGCTGGACGTGCATTTGTGTGTGTGTGATCATGTGCTGGCAACACTAAACATCTGGGCTTTGCTTGTTTGCGTGTTATCTTGC
Associated Phenotype:
Not determined