ZMP
eftud2
Ensembl ID:
ZFIN ID:
Description:
116 kDa U5 small nuclear ribonucleoprotein component [Source:RefSeq peptide;Acc:NP_956802]
Human Orthologue:
EFTUD2
Human Description:
elongation factor Tu GTP binding domain containing 2 [Source:HGNC Symbol;Acc:30858]
Mouse Orthologue:
Eftud2
Mouse Description:
elongation factor Tu GTP binding domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1336880]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33122 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa40027 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33122
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 |
|---|---|---|---|---|---|
| ENSDART00000017172 | Nonsense | 167 | 973 | 7 | 28 |
| ENSDART00000125268 | Nonsense | 167 | 686 | 7 | 21 |
| ENSDART00000127309 | Nonsense | 167 | 683 | 7 | 20 |
| ENSDART00000130575 | Nonsense | 167 | 398 | 7 | 15 |
| ENSDART00000136465 | Nonsense | 167 | 398 | 7 | 15 |
| ENSDART00000140067 | Nonsense | 164 | 970 | 6 | 27 |
Genomic Location (Zv9):
Chromosome 3 (position 16028142)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 16258361 |
| GRCz11 | 3 | 16408161 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCATGTGGTGATGTATTAAAATATTGGTGTTTTCTTCTTTCCACAGTTA[C/T]GATACACAGATATCCTTTTCACTGAGCAAGAGGTAAACTGAAATAGGATA
Long Flanking Sequence:
TTAAAAGTAATCAAACTAAGAACATCAAGCATAATCTTTTCTTTACTTTAAACAATGATGGAAGTATACTTGACTCATCTTCTTTTTATCATCTTTTGCCTATTCCGGAGTCAAGTATATAAAACAAAAACAACTCCTAATAAAAGTAATATTGTAGTAGTTTATGTACAGTGGTGTGAAAAAGTGTTTGCCCCTTACTAATTTTTTATTATTTTGCATGTTTGTCACACTTTATTATTAAAATAAAGTATATATTTGTCAGAGAAACACAATTAAACACTTCATGTAGTTATTATTAAAGGGGAAACAAAAAACAAAACAGTGTTTATATATACACTGTATGTGCATTCTTCCGCACACCTGTAGTTTCATATAAATTTAAAACATGAGTTATTACTCATTTATAGCAACATTTTGCACTGAGGCGTTCTTTGTTTGTTCAGCTTTACAGTCATGTGGTGATGTATTAAAATATTGGTGTTTTCTTCTTTCCACAGTTA[C/T]GATACACAGATATCCTTTTCACTGAGCAAGAGGTAAACTGAAATAGGATATTGATTAAACATTTCTCTCTCAGTGATGTTATTTAAAGTTTTTTTTTTTGCTTTTTGATAGAGAGGGGTTGGCATCAAGAGTACTCCTGTAACCATGGTGCTGCCGGACTCACGGGGCAAATCCTACCTCTTCAACATCATGGACACGCCAGGTACTTTCCTGCCCTATAAAATCACTTACAGATGCACACTAAATACATTTGTGCACCGGCATGTAAGAACAGGTGATTTTATCTCTCATACTTCTTTCTCGTACTTCACATTCTTTAGGTCATGTGAATTTCTCTGATGAAGTGACATCTGCAGTTAGACTATCTGACGGGATTGTGCTTTTTATTGATGCTGCTGAGGGGGTGAGTTCACACACACACACACATAAATATTGCCTATGTGCTTTTTCACACACATGCATATTGCTTTTCGCTTCAAGACTGTAAGTACTATGTTGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40027
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 |
|---|---|---|---|---|---|
| ENSDART00000017172 | Nonsense | 808 | 973 | 24 | 28 |
| ENSDART00000125268 | None | None | 686 | None | 21 |
| ENSDART00000127309 | None | None | 683 | None | 20 |
| ENSDART00000130575 | None | None | 398 | None | 15 |
| ENSDART00000136465 | None | None | 398 | None | 15 |
| ENSDART00000140067 | Nonsense | 805 | 970 | 23 | 27 |
Genomic Location (Zv9):
Chromosome 3 (position 16013638)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 16243857 |
| GRCz11 | 3 | 16393657 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGATCCTGGATGCCGTGATTGCTCAGGAGCCGCTGCACAGAGGAGGAGGA[C/T]AAGTCATCCCTACAGCTCGCAGAGTTGTCTACTCCGCTTTCCTCATGGTG
Long Flanking Sequence:
AAAAACATTGCAAGTGTAATGTTTACACTCGCCACTCCACTAACATTTATTTAAGGTAAAATGCAAGTAATTAATCATTACTAATCAGTATTAAAAATTCTGTCACTTTTTCTTTCAATTAGAATCTGCCTCAATTTGTACTATAAATCAGCTGTCTGGTGTTGGTCTGAACAGAAGTAGAAGCTGACCAGTGGCAGTTTGTAGATGAAGTTGTAAGAAGTTAATTTCATAACAGAAAGCTCACTTTGGCCAATGTGTTTCAAATTCTTGAAACGAAATACAAACATACTTCGATTTCTACTTGCTTTTATGTAAAATGACATCACAGCATCACAACAGGGTATTATGGCATAATGTCGGCTACAGTTTAATATTTAATTTCATACTGTGTAATATCTAATCTGCCTGTTTGTCATTCTCTGCATGCAGCAATCCGCAATGTGAAGTTCAAGATCCTGGATGCCGTGATTGCTCAGGAGCCGCTGCACAGAGGAGGAGGA[C/T]AAGTCATCCCTACAGCTCGCAGAGTTGTCTACTCCGCTTTCCTCATGGTGATTTGTCCTGACACCTCTCTTTCTTGACTAATCATTAGCAGTGTTTTCATCCACCTATTTTCATTAGCACTTTAGAAATTTACATTAAAGCTATTGACCTTATTCTCCGCAGACGAGCGGGCGCTGCCATTTGAATCTTTTTTGCACGCGACTTCCGGTCTCATTCACTTCCATTCATTTTTAGACATTAAAAACTGCTTGTTTCGCTGTTTGATGTTGCAAACTGATATTTCCTTGTTATATTATTCTACTTGGTCTGTATAGTCATGCAAACATTTGTTTGTAGAGCAAGTAGTTTAACCGTTTTTTGCTGTCAAAAATTCTATTCCTTGTCATTTCTCCCATAGGCGACTGAAACGGAAGTTCTAAGACAATCGCGGAAACAGGCGCACTTCCGCATTTTAGAATAAGGTCAATAGTTCACCCAAAAATGAAAAAGACTTCTTCAGT
Associated Phenotype:
Not determined