ZMP
nf2b
Ensembl ID:
ZFIN ID:
Description:
neurofibromin 2b (merlin) [Source:RefSeq peptide;Acc:NP_998116]
Human Orthologue:
NF2
Human Description:
neurofibromin 2 (merlin) [Source:HGNC Symbol;Acc:7773]
Mouse Orthologue:
Nf2
Mouse Description:
neurofibromatosis 2 Gene [Source:MGI Symbol;Acc:MGI:97307]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45738 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa13486 | Nonsense | Available for shipment | Available now |
| sa23946 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa45738
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000035062 | None | 94 | 586 | 4 | 17 |
| ENSDART00000128987 | None | 94 | 586 | 3 | 16 |
| ENSDART00000136146 | Essential Splice Site | 73 | 96 | None | 11 |
Genomic Location (Zv9):
Chromosome 21 (position 25184869)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 25768206 |
| GRCz11 | 21 | 25804811 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCCAAAGGACTCTCCGATAACATTTCACTTTCTTGCTAAATTCTTCCC[A/T]GAAAAAGTTGAGGACGAGCTCGTTCAGGAAATTACTCAGCACCTCTTCTT
Long Flanking Sequence:
AACAGATTGTATTAACTGTGAACAGAGATTTACAATAGATGAATTTATGTACAGGTTGCTATTAATAATCAGAAGTATGCAGATAGATAAAAAACATGTATACATGTATGTGCAGTGGATATGTACACTTCAAGATCAATTAGTACAACCAAGTGAAATATAGGCAAGAGGGAATAGTGACATTGAAATCTTGTAAAGCAAATTGAATTGTTGGTCTGTATTAAAAACTGAACGTAATTTACTAAATTAATCCACAATCCTAGAAAAACAGTACTAACCAAGTTCATGGCAGTCAAGTTTCGTGGTGTTGGTGCATACAGTTTCTATTACAGACTGACCTTTGATTTTCATAACACCTTGGTTTGACTTCAGGAGAAATTTATTTTGATGTTGTTTGGCCCCTAACATATTTGTTGACTTTTTAAATCCATCTAGGTTTTGGATCAAGAGGTTCCAAAGGACTCTCCGATAACATTTCACTTTCTTGCTAAATTCTTCCC[A/T]GAAAAAGTTGAGGACGAGCTCGTTCAGGAAATTACTCAGCACCTCTTCTTCTTACAAGTATGTGGGAGTTGTTCTTGTGAATTTGGCATGATTGCTCTCCATCATGGTCTTTTCCGCTGTACAGAAACCTCATTTGGGGGAATGAATAATCTTATTTTCTTCAGGCCAAATTCTTGAGATTAAAATCCCTTCTGTTTTTTTACAAAGGTTAAAAAGCAGATACTAGATGAGGAGATATTTTGTTCTCCAGAAGCCTCCGTTCTTTTAGCCTCATATGCTGTTCAAGCCAAGGTAGGTCTCCGTATCAGTGTTTTATGAAGGGACACACTCAATGTATATCGTTTTATTAAATATGACATTCTTTCTGCAGTACGGGGACTACGATCCAAACTTTCACAAACCAGGTTTCTTAGCTCAAGATGAACTCTTGCCCAAAAGAGTGAGTAATGGCTCTACTTGACTACTTGAAAATAAGCCAACATTTGCATTCTTTAAGATGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13486
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 |
|---|---|---|---|---|---|
| ENSDART00000035062 | Nonsense | 125 | 586 | 5 | 17 |
| ENSDART00000128987 | Nonsense | 125 | 586 | 4 | 16 |
| ENSDART00000136146 | None | None | 96 | 5 | 11 |
Genomic Location (Zv9):
Chromosome 21 (position 25185112)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 25768449 |
| GRCz11 | 21 | 25805054 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGNTTTTTTTACAAAGGTTAAAAAGCAGATACTAGATGAGGAGATATTTTG[T/A]TCTCCAGAAGCCTCCGTTCTTTTAGCCTCATATGCTGTTCAAGCCAAGGT
Long Flanking Sequence:
AAATTAATCCACAATCCTAGAAAAACAGTACTAACCAAGTTCATGGCAGTCAAGTTTCGTGGTGTTGGTGCATACAGTTTCTATTACAGACTGACCTTTGATTTTCATAACACCTTGGTTTGACTTCAGGAGAAATTTATTTTGATGTTGTTTGGCCCCTAACATATTTGTTGACTTTTTAAATCCATCTAGGTTTTGGATCAAGAGGTTCCAAAGGACTCTCCGATAACATTTCACTTTCTTGCTAAATTCTTCCCAGAAAAAGTTGAGGACGAGCTCGTTCAGGAAATTACTCAGCACCTCTTCTTCTTACAAGTATGTGGGAGTTGTTCTTGTGAATTTGGCATGATTGCTCTCCATCATGGTCTTTTCCGCTGTACAGAAACCTCATTTGGGGGAATGAATAATCTTATTTTCTTCAGGCCAAATTCTTGAGATTAAAATCCCTTCTGTTTTTTTACAAAGGTTAAAAAGCAGATACTAGATGAGGAGATATTTTG[T/A]TCTCCAGAAGCCTCCGTTCTTTTAGCCTCATATGCTGTTCAAGCCAAGGTAGGTCTCCGTATCAGTGTTTTATGAAGGGACACACTCAATGTATATCGTTTTATTAAATATGACATTCTTTCTGCAGTACGGGGACTACGATCCAAACTTTCACAAACCAGGTTTCTTAGCTCAAGATGAACTCTTGCCCAAAAGAGTGAGTAATGGCTCTACTTGACTACTTGAAAATAAGCCAACATTTGCATTCTTTAAGATGGTTTATGTGATCTGTGTGCTTTATTGTGCAGGTGTTGATGCAGTATCAGATGACACCAGACATGTGGGAGGAGAAGATAACCGCTTGGTATGCTGAACACAGAAACATCACAAGGTAAAACTGTGCACGTCCTGCTGCTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAAACCACCTTCCTCATGAAAGATGAACTACAATTGAGCTTTGTTTGTAGGGACGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23946
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000035062 | Nonsense | 261 | 586 | 9 | 17 |
| ENSDART00000128987 | Nonsense | 261 | 586 | 8 | 16 |
| ENSDART00000136146 | None | None | 96 | 9 | 11 |
Genomic Location (Zv9):
Chromosome 21 (position 25187652)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 25770989 |
| GRCz11 | 21 | 25807594 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCCTAACAAATCCTTCCCCTGGAGTGGAATCCGAAACATCTCCTACAGC[G/T]AGAAAGAGGTTGAAAGATTACCTCTTTTTTTAAACACAAAATATGCAAAT
Long Flanking Sequence:
GCTTGCATACTGTACAGCACTTCAGAGTCACACCTTTAGCGATCTGTACTGTACAGAAGACATGGCACGGAGAATGTTGATTGGCAACGGTCTACAGCCAGTCAGGCACTGTAGAAAAAAAACATGTGAAAAAATCTGCGAAACTGCGAGGTCGCAAAAAGTGAACCGCATTATAGTGAAGGACCACTAATATATATATTTAGATTTAATATTTATAATTGTTTAATATTTTCTTTATTTTTTACATTTTGATAATAGATATTGTCTAATTTGACCTTTTATGACATTGTGAAGCCATTTTTTTTTCCACAACATGGTTGATTTCTGACTCTAATGTACAATTCAAACTGTCCCACCATGATGTTTCACAGCAAAATAAGAGGGACACAGAGCTTCTTCTTGGAGTTGATGCTCAGGGTCTTCACATTTACAACCCCAACAACAAGCTGAGCCCTAACAAATCCTTCCCCTGGAGTGGAATCCGAAACATCTCCTACAGC[G/T]AGAAAGAGGTTGAAAGATTACCTCTTTTTTTAAACACAAAATATGCAAATAATTTTACAGAACTCTCACAAAAATATTTAAACATTCTGTATTTGTCTATTCTCAGTTTACTATCAAACCACTGGACAAGAAAAAGGAAGTGTTTAAATTCTACTCATCCCAGCTTAGAGTTAACAAACTGGTGAGCTACTTCTATGAGTATTTGTGTAATAAAGTATATTCAAGTAGTTGCTCACATAAATTTTTTACTGTATATTTTAGATCTTACAGCTGTGTATTGGGAACCATGACCTGTTCATGAGGAGGAGGAAGGTGGATTCAATAGAAGTGCAGCAGATGAAGGCTCAGGCCAAAGAGGAGAAAGCTAGGAAGAAGGTAATTTTCTTCCATTCTACATATGTTAACCATAGTGGTGTTACTCCAAATTAATTATTTTCTTTATGAATTTAATGTTTATGCAGATATACAATGAAATATAGTAAACATTTATTTGTTTAAAC
Associated Phenotype:
Not determined