ZMP
LOC100334106
Ensembl ID:
Human Orthologue:
IQSEC1
Human Description:
IQ motif and Sec7 domain 1 [Source:HGNC Symbol;Acc:29112]
Mouse Orthologue:
Iqsec1
Mouse Description:
IQ motif and Sec7 domain 1 Gene [Source:MGI Symbol;Acc:MGI:1196356]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37602 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa43909 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa37603 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa25191 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37602
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092344 | Nonsense | 307 | 942 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 23 (position 4704517)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 4714441 |
GRCz11 | 23 | 4649615 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCGCAGAATCTGATCAGCACACTCAGTCCGTCAGCGCCTCACAGGAGTA[T/G]TGGTCCATGGATGCTAACATGGACACAAGTGCCAGGAGCACTCCATCCCT
Long Flanking Sequence:
TCCGAGAACCGCATGTCCCGCAGGATCCTGTTGTCCAACATGAGGATGCAGTTTTCCTTCGAGGCACCTGAGAAGGTCCACAGCTCCTTCTTTGAGGGCAGACAGATGTCTCTCATGGAGGAGAGCAGCCATATAGGAGCAATGGTGCAACCTGGAGAGAAGGTTCCTGTTATCCTGGAGGCTCCAGAAACTCAAAATGACTTGACAGACACAATAACGGAGCTAGAGGACACTTTCTCAAAGCAGGTAAAGTCGCTGGCTGAGTCAATCGACGATGCACTGAACTGCCGCAGTCTACACAAAGAGGAGATCCAGCCTGAGCAGACGGTTTGTGAGCTGCAGCAGAAACGGGAGCTTCCTCAGCCTGATGAGCACCACAGGCTGGACGAGATCTGTGATGTGACTCTGTTCATCGATGAGGAGGAGCTCTCTCCTTTGGTACAGCCATCCAGCGCAGAATCTGATCAGCACACTCAGTCCGTCAGCGCCTCACAGGAGTA[T/G]TGGTCCATGGATGCTAACATGGACACAAGTGCCAGGAGCACTCCATCCCTCGATTACCAGAGTCCAAAGCTTTGTGTGGACTTGCCCGTGCTGACAATCGAGCCTCCCAGCGACAGCTCGGCAGATGCGAGTGATCGTTCGGAGCAGGGTTTGGTCCAGACTCAAAACGTTCCCAAACAGACCACAGCAGCACCACGGGCCAATCCCAAACACGGACTCCCTGCCAGAGTTCCCTCTCTTTCTGGTGAGGAAGAGCCACTGAGACACCGGCAGGTGGTGAGTCATCTGGCCACCAATGGCAGCCGGCAGAGCAAGTCAGAATCTGACTTTTCCGATGGAGACAATGACAGCATCAACAGCAACTCGAACTCTATTGACACAATCAACTCTGAGTCCTCTTCCAGTCAGCAGAACCTCAGCAAACAGACCTACCACAAAGACACTCGCAACAGCTGGGACTCTCCGGCCTCCAGCAGCGACATCATGCGCAAGAGACAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43909
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 |
---|---|---|---|---|---|
ENSDART00000092344 | Nonsense | 410 | 942 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 23 (position 4704824)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 4714748 |
GRCz11 | 23 | 4649922 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTGAGACACCGGCAGGTGGTGAGTCATCTGGCCACCAATGGCAGCCGG[C/T]AGAGCAAGTCAGAATCTGACTTTTCCGATGGAGACAATGACAGCATCAAC
Long Flanking Sequence:
AGATCCAGCCTGAGCAGACGGTTTGTGAGCTGCAGCAGAAACGGGAGCTTCCTCAGCCTGATGAGCACCACAGGCTGGACGAGATCTGTGATGTGACTCTGTTCATCGATGAGGAGGAGCTCTCTCCTTTGGTACAGCCATCCAGCGCAGAATCTGATCAGCACACTCAGTCCGTCAGCGCCTCACAGGAGTATTGGTCCATGGATGCTAACATGGACACAAGTGCCAGGAGCACTCCATCCCTCGATTACCAGAGTCCAAAGCTTTGTGTGGACTTGCCCGTGCTGACAATCGAGCCTCCCAGCGACAGCTCGGCAGATGCGAGTGATCGTTCGGAGCAGGGTTTGGTCCAGACTCAAAACGTTCCCAAACAGACCACAGCAGCACCACGGGCCAATCCCAAACACGGACTCCCTGCCAGAGTTCCCTCTCTTTCTGGTGAGGAAGAGCCACTGAGACACCGGCAGGTGGTGAGTCATCTGGCCACCAATGGCAGCCGG[C/T]AGAGCAAGTCAGAATCTGACTTTTCCGATGGAGACAATGACAGCATCAACAGCAACTCGAACTCTATTGACACAATCAACTCTGAGTCCTCTTCCAGTCAGCAGAACCTCAGCAAACAGACCTACCACAAAGACACTCGCAACAGCTGGGACTCTCCGGCCTCCAGCAGCGACATCATGCGCAAGAGACAATACCGCATTGGTCTCAACCTCTTTAACAAGTATGTTTTTGGTGAATGAATCTAATGCGCATTTTATTATCCAAGACTTGACTTATGTTTGAGATGCATATTATTTCTATATTGAATAGACCAGGGGTCACCAACCCTGTTCCTGGAGAGCTAGCTTCCTGCAGAATTCAGTCCCAACCCTGATTAAACACACCTGAACCAATTAATAGTACCTAAAGCAGCACTTGATAATTACAAACAGGTGTGTTTGGTCAGGGTTGCAACTGAAATGTGCAGGAAGCTAGCTCTCCAGGAACAGGGTTGGTGACCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37603
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 |
---|---|---|---|---|---|
ENSDART00000092344 | Nonsense | 719 | 942 | 8 | 13 |
Genomic Location (Zv9):
Chromosome 23 (position 4717144)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 4727068 |
GRCz11 | 23 | 4663156 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGCAGACTGTTTGAGGTCCCAGATCCAAACAGGCTGCAAAAACTCGGG[C/T]AGCACCAGCGGGAAATCTTCCTGTTTAATGATCTTCTAGTGGTAAGAGAT
Long Flanking Sequence:
TTATAATGGACTAAAAAACTGCAGAAATCTGCGGAATTCTGCGGAAAATCTGCGGAATTCTGTGCGCGCAGATTCCGTGTGGGCCTAGCGGGGAGAGGGTACAAAAATAGAATTGGGATTGGGCCTAAGTCCGGCCCTGTCTGTACAGTATAAACATCATTACGACAATGGAAAGTGCACATAAAAGTATCTGTATAAGTGTGTGTGCGTGTGTGTCCACACGGATAATAAAACTGAACTGAACTATGGAGAGTAGCCAACGATTATCCTAAAAATAATAAGCAGACTTATGAAAACACAATCTGAATGAGATATTGCATGATAAGATTAGAAAAAAATGTCAGTTCAGTATATAGTCCAGGAAACAGACATCAGTAAAGCCCTCAGACAAACAAACATGTTTATGTGTGTTACAGGTGCTGTCTCAGGCTCACCGCAGGCTCGTGTGCTACTGCAGACTGTTTGAGGTCCCAGATCCAAACAGGCTGCAAAAACTCGGG[C/T]AGCACCAGCGGGAAATCTTCCTGTTTAATGATCTTCTAGTGGTAAGAGATCACAAAAGATACACAACACATGACTTTCAATATAATAACGAGTACTGAAGATACAGTGTAGTACTTGTGTTGATGTACAGATATCTATAAATGACCACTGGGATTGTTGCATGTTTGTGACAGGTTACCAAGATCTTCCAAAAGAAGAAAAACTCAGTGACGTATAGTTTCCGGCAATCTTTCTCTCTGTACGGGATGCAAGTGATGCTCTTCGAGAACCAATGTAAGAAATGTGACATTTATTAAGTGGAGTTTATTTAAAAACTAATTTTGAGAGGATCACGTGATTATGAATGAACACGGCTGGTTCTGCATTAGCTACGGATGATCTACCAATCAGGCGATCCCTAACCCATTATAAAGAGCCGGGGTTTCTTCCACCCCTACTTCTCCACCTTTCCCTTCATAGGGCGGCGCGGTGGCCCAGTGGTTAGCACTGTTGTCTCACAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25191
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 |
---|---|---|---|---|---|
ENSDART00000092344 | Essential Splice Site | 766 | 942 | 10 | 13 |
Genomic Location (Zv9):
Chromosome 23 (position 4719892)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 4729816 |
GRCz11 | 23 | 4665880 |
KASP Assay ID:
554-7591.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGATACCATTTATTAATGTTTGTTATGATGTTCTCTCTCTTTTTTTCA[G/A]TTTATCCAAATGGCATCCGGCTGACGTCAGCCATTCCAGGTGCAGACTTC
Long Flanking Sequence:
AATAACCAGCCAAATCCAGCTAAAACCAGCTTGACCAGCCTGGTTTAAGCTGGACATAGCTGGTTTTGGTTGGACTCCCAGCTTGGCTTGACTGGTCAAGCTGGTTTTAGCTGGTCATCTCCCAGCCTGACCAGCTAAGACCAGGCTGGAAATGGCTGGAAACCAGCCTGGAAGTGGCCAAAACCCCTCTAAAACCAGCCTGGTCGACCAGCTAAAAGCAGCCAACCAGCCTAGGCTGGTTTAAACTGGATTTTTCAGCAGGGTAGTTTGTCTGACCATGAATTTTTAACCATCATTTTTCATATAAAAGAGAAGCAAATCATGTCAAGTAACCTTTTCTAGTTTTTGTAGTGTAATTTCTATAGCACTTTATGCTATGTAGATTGGGTCAAACCTTATATACGTGGAACAGCCATTGCATGACGCTTGATGTACCCCATGAATCCAGATAAAGATACCATTTATTAATGTTTGTTATGATGTTCTCTCTCTTTTTTTCA[G/A]TTTATCCAAATGGCATCCGGCTGACGTCAGCCATTCCAGGTGCAGACTTCAAAGTCCTGATCAATTTCAATGCTCCCAACATTCAGGACCGCAAGAGATTCATCAGCGACCTGCGAGAATCCATCGCTGAGGTCCAGGAAATGGAGAAGTACCGAATAGAGTGTAAACAGACCTTTATTCTTCCTCATCCATCATTAGTCATTAGTAAACCATATTTTATTAGAAACGCGATTAGAAAGTACACTGTAAATTTCTGTATTTTGTTTTCATGTATTAGTCATTTTTCATGTTTTTTGCCCGTTTATTCATGCCTTTGAGTTGCATTATGGGATCTTGATCTTTCTACTCACAGCTGTTAACCTTGAAAAGTTGAAAAAGGTGACTTTTAAACATTTTTAATAGTCTAAACTGATCAATTGTCTGGGTTGGTGTTGTAGATTATGCTACATAGACCTTGTAACAGATTGTCAGTAAACATTTTCTGTAATTTTTTAGACTTA
Associated Phenotype:
Not determined