ZMP
EVPL (2 of 2)
Ensembl ID:
Description:
envoplakin [Source:HGNC Symbol;Acc:3503]
Human Orthologues:
EVPL, EVPLL
Human Descriptions:
envoplakin [Source:HGNC Symbol;Acc:3503]
envoplakin-like [Source:HGNC Symbol;Acc:35236]
envoplakin-like [Source:HGNC Symbol;Acc:35236]
Mouse Orthologue:
Evpl
Mouse Description:
envoplakin Gene [Source:MGI Symbol;Acc:MGI:107507]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa6025 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa6876 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa15141 | Nonsense | Available for shipment | Available now |
sa38369 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa19938 | Nonsense | Available for shipment | Available now |
sa39981 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa39980 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6025
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082000 | Essential Splice Site | 71 | 1706 | 2 | 15 |
Genomic Location (Zv9):
Chromosome 3 (position 6523444)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149912.1 | 75877 |
GRCz11 | KN149912.1 | 75877 |
KASP Assay ID:
554-3812.1 (used for ordering genotyping assays)
KASP Sequence:
CRTCAGCTCTGAGAAACATGAGCAATCCTGAGATCCTGCTGCAGCTCGAG[G/A]TACRTATACACACACAYAAATACACGCGCATRCACATATATACTAGGRTT
Long Flanking Sequence:
GTTTCTTACACATTTGTTCATCTCTTATTTGTTCATTTATGAATTCAATTTTGTTAATTTAATTGTTCATTCATTCGTTTATTTGTAAATTCATTCTCTCAGGAAACTGTTATGCTATTATTAATTCATTTGTTTTAGTCATCCATTAATTTACTAATTTCTTCGCTCTTGTTTTTGTTTTTGTGTGTGATTCAGTCGTACAGTGCAGACGTCACAAGAGAATGGAAACAATTCCTCAGTTTGTGTCTGTGTCAGGACACACACCTGGACAACGTGGAGGAGTACAAGAAAGTGAGCAAACACACACACACACACATGCAACTCACCAAATGAGCAGGAGTTTGAGTTGAACAGCTATTGAACAGTCTGTTTGTGTGTTTTAATCTCAGTATCAGCTGAATCTGGAGACGTTCACTGAGTCGCTGAATAGAATCAAATCCACCACTGAACCATCAGCTCTGAGAAACATGAGCAATCCTGAGATCCTGCTGCAGCTCGAG[G/A]TACATATACACACACATAAATACACGCGCATACACATATATACTAGGGTTGGGCATCTAAGCTATAATGCCGATCCGATACGCATCTCGATACAAAGAATACGATCCGATATATTAGCGATACATTTGTGACATATTGCGATGCAACACGATACGATTCACACCCATATCACGATACGATGCGATATTTCAGCACTAACTTATTAGATCAAGTTTATGAGATGATGTGAAAGAGGATGCTGTGCCATTGAATGAGTTTGATTATTTATTAACAAAGCAAAACCAAGACTTTTTTTTACAAACTGGCTCTTCTCTCAGAGCCAGAGTGTCAGTTTACAGTAGAGGGCCATTTTAGATAATATAGCACATATTATTTAAGTATTTTCAAGATAAACAGAATGTATAAGTGCAATATATATTATAAATGTATATATTTGCACTCTTTCAACATAAATAAATTTAGCATTGCACAACAAGAATTGTGATTTAACTTTTCAACTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6876
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 |
---|---|---|---|---|---|
ENSDART00000082000 | Nonsense | 448 | 1706 | 10 | 15 |
Genomic Location (Zv9):
Chromosome 3 (position 6509523)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149912.1 | 61956 |
GRCz11 | KN149912.1 | 61956 |
KASP Assay ID:
554-5036.1 (used for ordering genotyping assays)
KASP Sequence:
TTAACAGGGCAACTCTGTTGAAAGAAGCYGTCAGTAAGTACCAGGAGTTT[C/T]AGAGCGTCAACCAATCGCTCACTGCTTTCCTCATCAACATGCCCAACAAC
Long Flanking Sequence:
CAGCAGAGGTGAGGCGTCCCACTTCATCTGCCCGTTTAACACTAGAGTAGGGGTGCCCAAACTTATTCTTACACCTTTAAAAAATGCTGGGTTCCACACAATTCCTTCACGCAGACATTTGATGGTGGACTCCGGGTGCTCCGGTTTCCCCTACAGTACAAACACATGCGCTGTAGGCATAATTGTGTTGGCTAAATTAGCCGTAGTGTATGAGTGTGAATGCAATAATGGAAAGGTGTTTCCCAGTGTTGGGTTGTGGCTGAAAGGGCATCCGCTGGAGAAGTTGCTGGACAAGTTGAAGGTTTATTCCGCTGTGGCGACCCCTGATTAATAAAGGAACTGAGCTGAAAAGAATATGAATGAATGATACCGAATTAATTTTATTAATTGTTTACTTGAGGCTTTCTCGAGTAAAAATTCTTTTGACATTTGAACTGCATCTGTATTTTCTTAACAGGGCAACTCTGTTGAAAGAAGCTGTCAGTAAGTACCAGGAGTTT[C/T]AGAGCGTCAACCAATCGCTCACTGCTTTCCTCATCAACATGCCCAACAACAAGGTGCAGCCTGGTGAAAGTATGACGCAAGTCTATGCCAAGCAAAACTCGCAGATGGTCAGTATTAAATTGTATTGTTGGGTTTGCGTTTGAATTATTTGATAAATAATTTGATCATTCTGTGTAAAAACAACTTTAACTTTTGTTCTTTTTCGTTGTGCGGAAAATTTAATCGTTTGAATTTGTTTTCGGTTGCAGAGAGCAGTTGAAGACATCAAGAGGAAGCAGGACGATGTGAACAGGATCGTGAAACTTTCCGAGGAGCTGCAGGGCGTTCTCAATGTGCGTTGGCCATCTTGAACTTGAACTCATATTGCAATGTATTTCAGTAGAGATGTGGTCATAATCGTTAATGTATTGTTAAAAACACCCTTGAGCGCCATCTGCAGTTAAAAGCTGTCCTAAAGCACTATCTTCTGTAAAAAACTAAGTTCGGATTCAATTCAAGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15141
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 |
---|---|---|---|---|---|
ENSDART00000082000 | Nonsense | 474 | 1706 | 10 | 15 |
Genomic Location (Zv9):
Chromosome 3 (position 6509445)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149912.1 | 61878 |
GRCz11 | KN149912.1 | 61878 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCTCATCAACATGCCCAACAACAAGGTGCAGCCTGGTGAAAGTATGACR[C/T]AAGTCTATGCCAAGCAAAACTCGCAGATGGTCAGTATTAAATTKKATTGT
Long Flanking Sequence:
AAAAAATGCTGGGTTCCACACAATTCCTTCACGCAGACATTTGATGGTGGACTCCGGGTGCTCCGGTTTCCCCTACAGTACAAACACATGCGCTGTAGGCATAATTGTGTTGGCTAAATTAGCCGTAGTGTATGAGTGTGAATGCAATAATGGAAAGGTGTTTCCCAGTGTTGGGTTGTGGCTGAAAGGGCATCCGCTGGAGAAGTTGCTGGACAAGTTGAAGGTTTATTCCGCTGTGGCGACCCCTGATTAATAAAGGAACTGAGCTGAAAAGAATATGAATGAATGATACCGAATTAATTTTATTAATTGTTTACTTGAGGCTTTCTCGAGTAAAAATTCTTTTGACATTTGAACTGCATCTGTATTTTCTTAACAGGGCAACTCTGTTGAAAGAAGCTGTCAGTAAGTACCAGGAGTTTCAGAGCGTCAACCAATCGCTCACTGCTTTCCTCATCAACATGCCCAACAACAAGGTGCAGCCTGGTGAAAGTATGACG[C/T]AAGTCTATGCCAAGCAAAACTCGCAGATGGTCAGTATTAAATTGTATTGTTGGGTTTGCGTTTGAATTATTTGATAAATAATTTGATCATTCTGTGTAAAAACAACTTTAACTTTTGTTCTTTTTCGTTGTGCGGAAAATTTAATCGTTTGAATTTGTTTTCGGTTGCAGAGAGCAGTTGAAGACATCAAGAGGAAGCAGGACGATGTGAACAGGATCGTGAAACTTTCCGAGGAGCTGCAGGGCGTTCTCAATGTGCGTTGGCCATCTTGAACTTGAACTCATATTGCAATGTATTTCAGTAGAGATGTGGTCATAATCGTTAATGTATTGTTAAAAACACCCTTGAGCGCCATCTGCAGTTAAAAGCTGTCCTAAAGCACTATCTTCTGTAAAAAACTAAGTTCGGATTCAATTCAAGAGAGAAAAGCAATGGTCAGAATAGGTGCAAAATTGATTTCTCTAACAATCACAGCTCTTCATTCCAGATTCAATTTTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38369
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082000 | Nonsense | 785 | 1706 | 14 | 15 |
Genomic Location (Zv9):
Chromosome 3 (position 6507919)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149912.1 | 60352 |
GRCz11 | KN149912.1 | 60352 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTGAGGCTGGAAAAGGACCCAGAAATGCTGAAAACTGTAATGAGCTTC[A/T]AGAGCGAGATATCGGATGAGAGTATCAGATGCAAGAACCTGAATGATGAA
Long Flanking Sequence:
CACATGCTGAGAATGATCTATTTGCCCAAAGGAAACGACTGGTGTCCCTGAAGAGTCGCCGAGGTGTGGAGCGAGTGGAGGAAAAGGAAACAGTGCATTACTACCGTGATCCGAAGATTGAGGCTGACTTGGAGGTGCTAAAGAAGAGGATAGCAGACGAGATCTACAAGCGATCCGAAATGCAATCCGAAATTGAGATTTTCAAGCAAAAAATTGTCAGCCGTGAGCGAGATGTTGTAGAAGTAAAGCCCAGGTTGGTGACAAAGGTGGTTACAGAAATTGAGCGTGACCCCAAATTAGATGTGGAAGCAGCGAGGATTAGGGAGCTCATACTTAAACTAAAAGAGGAAATTCGAGTGCTTGAGAGTAATTCAGTTAACATCCGAACGGAGGTAACTGTCCTGGAGAACAAGAAGCCTGTGATAAAGGAAAGGGTCATCCTTAAAGAGGTTGTGAGGCTGGAAAAGGACCCAGAAATGCTGAAAACTGTAATGAGCTTC[A/T]AGAGCGAGATATCGGATGAGAGTATCAGATGCAAGAACCTGAATGATGAAATATTCGTTATTAGGAGTCAGATCAATAACTTGGAGAGAATTATTCCAACCATACAACCCAAAACTATCATCAAAGAGGTAAAGAGGGTGGAACAAGATGCTGACCTCCTACAAGAGTCCAGAACTCTTCGTGTGACCCTGGAAGAGCTGATCCAAGAGTACAGTATTTTGATGAAAGAGATCTCCAGCCTTCAGGTCCGCTACTCCCAAGTAGAAACCATCAGACAGAAGATCGAGTTCAATGAGATCATTCATGAGATCTACAGGATTGATCCTGAGACGGAGAGGGAGCTTCGACGGCTGAGAAACGAACTTATCGAAATAGGCAAACGCCGCACTAGCATTGAAAGTGAGATTAGTTTAATTATGGTGGATCTGAAGACTCTGCGTGCCGAGAAACCCAAAGTTGAGCTGAAGGAGGTGACTCGAGAGGTTGTGAAAGAAGAGAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19938
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082000 | Nonsense | 1110 | 1706 | 14 | 15 |
Genomic Location (Zv9):
Chromosome 3 (position 6506944)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149912.1 | 59377 |
GRCz11 | KN149912.1 | 59377 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTAGAACTGGAGGTGCAGCAGATGAGATCTGTAATCCTGGAACTGGAG[A/T]AAAAACTGGAGCTTGTGGATCGACAGAAGAAGGTAATGGTTGAGACAGAG
Long Flanking Sequence:
CTCGAGAGGTTGTGAAAGAAGAGAGGAGCCCTGAGATTATCAGAGAAATTAAGAGGCTGAATGAGCAGCTTACCATTTTGCGTACCAACTACGATTCTACTACGAGTCGTGTGTTTCGTCTGCGCAAGGACAGGGATGAGTGGAAGGCTGAAAGATCCAAGGTGGAAACGAAAGTGGTGACCAAAGAGTTGATAAGGTATGAAAATGACCCTCTTCTGGAGAAAGAAGCTGAACGTCTTAGGAAGGAAGTCAGAGAGGAAATTCAATGCCGCCGAACAGTGGAAGAGAATGTGTTTGATCTTCAAAACAAGTACATTGTGCTCGAGAGACAGAAACCAGAGGAAAGAGTTGTGGTCCAAGAAATAGTGCGTCTCCAGACAGATCCGAGTCAGATTCAGACTCATGAGAGATTAGTCAGGACTTTGGAAGAGACTATCAAGGTTCGACGACAGCTAGAACTGGAGGTGCAGCAGATGAGATCTGTAATCCTGGAACTGGAG[A/T]AAAAACTGGAGCTTGTGGATCGACAGAAGAAGGTAATGGTTGAGACAGAGTTGAGACAAATCAAGGCTAGAATCTATGAACTTGAGAACTGCCCAAAACCTGTTGAGGAAAAGATCGTCATTGAGGAGGTTTTGAAAGTTGAGAGAGACTCTAAAGTCGACAAACTTATCACTGGGCTTCGCACTGAGATTGACAATGAGGGTGCCAGCATTTCAAGACTGGAGAGAGAGATCCGAAACCTCAGAATTAGGATTGAGTCCCTGACCAAGGAGAAATCTGTTGAGAGGATCATCCACAAAGAGGTGATCAGGGTTGAGAAGGACCAAGCAGTGGAGGCAGAGAGAGAGAGCCTTCTGACCCAAGTCTCTCAAGTGAAGAGTACCAGGACCCTTAAAGATGAAGAACTGCTGAGATTGAAAAACAAAATCACCCGAATTCAGACCACCAGGACAAACTTCTCTCAAGAGGAGACCACCTTGATTGCCAACAGGGATAGGATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39981
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082000 | Nonsense | 1552 | 1706 | 15 | 15 |
Genomic Location (Zv9):
Chromosome 3 (position 6505606)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149912.1 | 58039 |
GRCz11 | KN149912.1 | 58039 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCCCTAACACGCAAACTGATTGATCAAGACACCGCAATGAGGCTCCTC[G/T]AAGCTCAGGCTGCTACTGGAGGAATTGTGGACCTCAATAAGAAAGACAAG
Long Flanking Sequence:
CCTATCTTGAGGGCCTGATTGACCGCAATCAGTACATCCACCTGCAGGAGCTGGAGTGCAGCTGGGAAGAAATCACAACCACGGGACCTGACGGTGAAGTCACACTCCTGCAAGATCGTAAAAGTGGAAAGCAGTACTCCATCAAGACGGCTCTCCAAAATGGACGACTAACCCAATATGACCTTCAGCGCTACAGAGATGGTAAAATGACCATTTCGGAGTTCGCTCTCTTGGTTGCAGGAGAAAAAAAATCAACAGTCTTTCCTCCCTCGAGTGTAACACAAACAACATCCCTTCAGACAAACTCCAGCTACAGCCCCTCAACACTGACACGGCGTACATCCTACTCCAGCAACGGCAACTTAAACTCTCTGAACACAAGCGGAGATGAGCTCTACCCTATTTCTGGCATTCTGGACATCACCACAGAAAGCCGAATGTCTGTAAGAAGTGCCCTAACACGCAAACTGATTGATCAAGACACCGCAATGAGGCTCCTC[G/T]AAGCTCAGGCTGCTACTGGAGGAATTGTGGACCTCAATAAGAAAGACAAGCTGTCCGTTCATAAGGCTGCAGAGCGTGGATTGATCGACTCCAGCCAACTTCACAAACTCCTCAGTGCCCAAAAGGCATTCACTGGGTTTGAAGACCCTGTGTCTAAAGAGCGCATGTCAGTGGCAGAAGCCGCTCGTAGAGGATGGATCCCAAATGATAGTGCTATATGGTTTATGGAGGCACAGCTGTTAACCGGTGGCCTTGTTGACCCAAACCGAGCAGGTCGCATCGGTCTGCAAAACGCAATTGATGCAAAATTGATCGACACATCGATGGCCAAGCAACTCCAAGATGATCTGGCCTTAGTGAAGAACGTTGTGGATCCCGTAAAAAAGGATAAAATCACATATAAAGAGGCCATGGCTCGATGCAAGCGGGATCACAGCACGGGACTGCTCCTGTTTCCGGCAGCCTCCACTGACACCGTAGACGCTCCGTCCTATTCCAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39980
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082000 | Nonsense | 1625 | 1706 | 15 | 15 |
Genomic Location (Zv9):
Chromosome 3 (position 6505386)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149912.1 | 57819 |
GRCz11 | KN149912.1 | 57819 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTGGCAGAAGCCGCTCGTAGAGGATGGATCCCAAATGATAGTGCTATAT[G/A]GTTTATGGAGGCACAGCTGTTAACCGGTGGCCTTGTTGACCCAAACCGAG
Long Flanking Sequence:
GTTCGCTCTCTTGGTTGCAGGAGAAAAAAAATCAACAGTCTTTCCTCCCTCGAGTGTAACACAAACAACATCCCTTCAGACAAACTCCAGCTACAGCCCCTCAACACTGACACGGCGTACATCCTACTCCAGCAACGGCAACTTAAACTCTCTGAACACAAGCGGAGATGAGCTCTACCCTATTTCTGGCATTCTGGACATCACCACAGAAAGCCGAATGTCTGTAAGAAGTGCCCTAACACGCAAACTGATTGATCAAGACACCGCAATGAGGCTCCTCGAAGCTCAGGCTGCTACTGGAGGAATTGTGGACCTCAATAAGAAAGACAAGCTGTCCGTTCATAAGGCTGCAGAGCGTGGATTGATCGACTCCAGCCAACTTCACAAACTCCTCAGTGCCCAAAAGGCATTCACTGGGTTTGAAGACCCTGTGTCTAAAGAGCGCATGTCAGTGGCAGAAGCCGCTCGTAGAGGATGGATCCCAAATGATAGTGCTATAT[G/A]GTTTATGGAGGCACAGCTGTTAACCGGTGGCCTTGTTGACCCAAACCGAGCAGGTCGCATCGGTCTGCAAAACGCAATTGATGCAAAATTGATCGACACATCGATGGCCAAGCAACTCCAAGATGATCTGGCCTTAGTGAAGAACGTTGTGGATCCCGTAAAAAAGGATAAAATCACATATAAAGAGGCCATGGCTCGATGCAAGCGGGATCACAGCACGGGACTGCTCCTGTTTCCGGCAGCCTCCACTGACACCGTAGACGCTCCGTCCTATTCCAGCTACAAATTCACCAAGAAGTAAAGAGACGACGGGCAAGAATGCTAACAAGGTTTAAGTGCTACATAGTAAGGGACATTTCTAGGGCTTTTTTTTTTTCAATCTTATATATAATAATCCAAGGAAACTTTTTATTATGTTTTATCAATTATTTCTTTCTGTCTTTTATTCCAGTTGCATATTTTCTGGTTCATCTTGATGAATGGGCTGAGTTCCTTTTTAA
Associated Phenotype:
Not determined