Busch Lab

ZMP

LOC100334106

Ensembl ID:
ENSDARG00000073822
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.
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.
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.
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.
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