ZMP
ENSDARG00000075964
Ensembl ID:
Human Orthologues:
ARHGEF40, PLEKHG4
Human Descriptions:
Rho guanine nucleotide exchange factor (GEF) 40 [Source:HGNC Symbol;Acc:25516]
pleckstrin homology domain containing, family G (with RhoGef domain) member 4 [Source:HGNC Symbol;Ac
pleckstrin homology domain containing, family G (with RhoGef domain) member 4 [Source:HGNC Symbol;Ac
Mouse Orthologues:
E130112L23Rik, Plekhg4
Mouse Descriptions:
RIKEN cDNA E130112L23 gene Gene [Source:MGI Symbol;Acc:MGI:2685515]
pleckstrin homology domain containing, family G (with RhoGef domain) member 4 Gene [Source:MGI Symbo
pleckstrin homology domain containing, family G (with RhoGef domain) member 4 Gene [Source:MGI Symbo
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa45284 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa7074 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa21000 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa45284
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 |
---|---|---|---|---|---|
ENSDART00000108473 | Nonsense | 875 | 2484 | 1 | 22 |
Genomic Location (Zv9):
Chromosome 7 (position 36179537)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 34453380 |
GRCz11 | 7 | 34724857 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAATGTAATTAATACATCACAGCCAGAGACTGAAATGTTATCTTGTGTTT[T/A]GGAAAGGGAGAACTCAGAACAGGTTTCTCCAGCTTATATTGAACTCATTG
Long Flanking Sequence:
ATTAGACAGCAAACAAGAAAGTGTCTCTCAAACAGACAGCAAACCAGTCAGCATATCACCAGACAATGAGCCAGTGAAGACATCACAACCACAACTAGAAAGCACATTACACCCAAACAGCAAACAAGCAAGCATGTCACAACTAGTCAATGAACACATCCAGACCTCACAGCCAGACCTAAAACCAGTAAGCATTGCTCAACTCTACAGTGAAGATGCTAAACCAGATGGATACGCTGATGTCAAACCAATAACCACTGAGCTAGACAATGGACTAGTGAGCACATCACAACCAGATAACCAACCAGTTGACACACCACAAGCAGAATGTACAACAGTTAACATAACCTTACCAGAGGGCAACCCCAATGACACATCATATATTGTCAACCTGCCGCTAAGTACATCACAACCAAACAGCAAAACAGTTCATGTGGAGCAAGCAGACATAAATGTAATTAATACATCACAGCCAGAGACTGAAATGTTATCTTGTGTTT[T/A]GGAAAGGGAGAACTCAGAACAGGTTTCTCCAGCTTATATTGAACTCATTGTGTCAGATCCTTATGCAGAAGTCAGATGTGAATCTAAAGAGCTGAGAGTTAATTGTGATCTTGAAGGCAGTTGTGGTTCACAGAACAACAGAGCGTCACTTGCCGAGACAGTAGCTGAGAGTGTGTCTTCGCAAAATCAGATTGATCAAACAGGCAATAGCCTGTATCAGATACACAAACCCATCCATACACCATCTGAGCAAATGCATGATCTTCCTACCATAAAAGAAGACCATCAGACATTCAGTAGCAGTTCTCATAACACGAATGAATCTGTTGGTGATTTAAGTCCCATTGCAGAAGAAGATGGTGGGTCTGTTACAGCTGCTCTGTATAGTGAGCATGTAGCCTTAGTTTCTGTCACCACAGTGCCTGGGGAGAGTCCAGTTACACTCATTTCACAGGGTCAGGTGGGGACAGAGTCTCCTGAGGACAGAATCAACCAGACAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7074
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 |
---|---|---|---|---|---|
ENSDART00000108473 | Essential Splice Site | 1372 | 2484 | 4 | 22 |
Genomic Location (Zv9):
Chromosome 7 (position 36185731)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 34459574 |
GRCz11 | 7 | 34731051 |
KASP Assay ID:
554-4819.1 (used for ordering genotyping assays)
KASP Sequence:
CAGGTGTTCACCTGTTCCCGCCCTTTTCAAAGCCTTYAACATCCTCCAGG[T/C]AAGAACACCCTGAMAGTATGATTTGYAATAACAAACACGCATGCAGTGTA
Long Flanking Sequence:
TCAGAAATCATTCCAATATTATTATTATATTTTATAAAATTATTTTCAATGTTAAATAATTACCTGATAGTTTTGTGAAAATTTATCCATTTTTTCAGGATTTTTTAAATTAACATTTTAAATGTTAATATAAACATGTATTCAATCTGATATTACAAGTGGCTTTACAGTCAGGTTTGATCTGTTCAGTTCAATTTATGAATGAATAAAATATTTAATTTATATTGTAAATGGGAATTTTCACTTCAAACATTTGAATGATATGTGTTTTCTCTGTGATTTATTAGACAACATACTTTTCTAAATATGTATTTATCTACCTGTTGCTAAGGGAAAACAAGCAAGTGTGTATGAGATTTGTTTACCTGTATTTCACTAAAAATGTGACCTGGATTTGACACACAGGAAGGAAGTAAGTGCTTTGGGATTGACTGTCCTGGTGGATGCCCGCAGGTGTTCACCTGTTCCCGCCCTTTTCAAAGCCTTCAACATCCTCCAGG[T/C]AAGAACACCCTGAAAGTATGATTTGCAATAACAAACACGCATGCAGTGTACCATTCATTAATATCCTTCAGAGAATCTCACACGAATAGACACTGTCACACAATGTTCACATGCTCAAGGCGTTTCCTCTCTCATACTTGCTTCAAAACTGAATGGAATGCAAGCGTGCCATAAATCCTGATCTTTAAATCCAACTTCCAATCAGACATCTGCTACTAGGGAGTTCACAAGACAACTTTGCAAACCATATCAAACCTTTGAGAAGAGTTTACATCATCAAAATCAATCGTTAATGGCTAAACAGGACAAATATAAACAACACATCATAAATATTAACCGTGATGTACCAGCTGTGGAAATAAATAGGCTGCATTCCACACAGTTATACAACAGGAGATACACACGCAAGAGTCAGAGAGAGAGCACATGACTTCCCATCTGGGATTGATTATTTTGCAGAAAGCTTCTGATATAAAATGGTTTGTAGTCAGTAGTTATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21000
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000108473 | Nonsense | 1430 | 2484 | 6 | 22 |
Genomic Location (Zv9):
Chromosome 7 (position 36191711)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 34465554 |
GRCz11 | 7 | 34737031 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGTGGACGTTTCTCAGCTTCCCACTGAGTTTGAAGGCACTTTCCCTTA[T/G]GCACACAGCAGCTGGGTCAGCTTTAGAATGGTGAGAAAATCACAATCTTG
Long Flanking Sequence:
AATGATAACTGCCAGCTTTGATCTTCAGGTTTTAGAGAACAATGTCAGTTTACTGAGAGTTTCTAGTTAGTGTCAAAGTAAACAAGTAACATCCTCTAATAACATGTGTTTGAATAGGATTGTTTCAGAATATAGTGACATCCTTTCAGAAACAAACAGCATCCAACAACACACACAAGGCTATTTTTACATAAGTGTCTGGACTAACATGCCACTTATGCCTGACAAATAGAGATAGAGTGTGTAAGAGACAGTTGAGAATGTCACAACAACAGGACAGATAATTTACCCTAGGCATCTATCTATGCTATTAGAACAGCCATTGCAGCATGTAAAGTGTTTATGATAGCACTGTTATACATGTTTGTCCCCATTGAGACCTAAAGAGTGTTGTTTTCTCTTGCTATCTGTCAGGTGGAGCTGCTGACATCACTCAAGTCTCTCTATAAACATGTGGACGTTTCTCAGCTTCCCACTGAGTTTGAAGGCACTTTCCCTTA[T/G]GCACACAGCAGCTGGGTCAGCTTTAGAATGGTGAGAAAATCACAATCTTGAATAGTACAGAAAGCTGGAATACCAATGTTTTGGCACAGATTTTGTACCCTGATTTGCAGTCTAGAATTTAGATTTTAAAGAAAAAATGTTAATTACATATTCCTTATCTTTAATGTAATTTATTTTTAATTTGTAATGTTTTTTATTTCAAATATTTACATAAACCCCTTAGCACACCCATGGGGCAGACCCCAGACCCAGTCTAAAAATCCCTGGTTTGATGTATGATGCCTACATTTTCTGTAATCTTTATAGACTACTTAGAGGGATGTAAACAAAAACATGGTCCCAACGTATTTCCTACTTTACATTTTTGATTTATATAGCTTCAGAGAATCCAAAAAGAGCCACATATTGATAAGTAATGCTATGACGGCTGTTTTAACATCAAGTTATGATCGAATTACCTCTTGTTACAGATATGAAATAGTTTGATAATAAGCAGGAAA
Associated Phenotype:
Not determined