Busch Lab

ZMP

LOC100330433

Ensembl ID:
ENSDARG00000076938
Human Orthologue:
TXNDC11
Human Description:
thioredoxin domain containing 11 [Source:HGNC Symbol;Acc:28030]
Mouse Orthologue:
Txndc11
Mouse Description:
thioredoxin domain containing 11 Gene [Source:MGI Symbol;Acc:MGI:1923620]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa7419 Missense Mutation detected in F1 DNA Not yet available
sa7305 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa38305 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa32812 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa7419
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 > C
Consequence:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114770 Missense 313 727 7 14
Genomic Location (Zv9):
Chromosome 1 (position 60285732)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58603429
GRCz11 1 59309874
KASP Assay ID:
554-4297.1 (used for ordering genotyping assays)
KASP Sequence:
CCCTCCTGACCTTCCTCCCACACAATCCCCTCACAGCCAATCAGCTGCTC[G/C]ATCAGGTACATGCAGCYGGAGCCTGGAGAGTGTTTACTGCGGTATAACAA
Long Flanking Sequence:
TTGTCTGCTCTGCACGCGCTGCGACGAGGTGCACACACACACTCACATCCACACACACACATCACTCATGCTCACCTGTGAGCTCTGACACGCTGCTTTCTGATTGGTGCAGATCACCAGGGGGCGGTGCGCTTCGCTGTGGTGACCAATCAGGCGGTGGCAGAGGGCGTGTCTCTCAGGGAAGATGAAAGTGTGTATTTGCACCGCCGTTTGAACAGCTCGCTGGTGAGTTCTCTCTCTCTCTCACACACACACACACACTCACACTGAGAGAGCAGGCGGGGTGTGACCCTGCTGTGGTGTTTCAGGTGTTCCCGCGAGCGCAGAGGAACTTCACCGCACAGGCCGTCTCTGATTGGGTGCTGGAGAACAAAGAGAGCGTCGTCTACTGGATTCAACCAACCAGAGCCAAGAGTTACTCTCTGGAGGCGGAGCTACAGAAGGGCCCTGCCCTCCTGACCTTCCTCCCACACAATCCCCTCACAGCCAATCAGCTGCTC[G/C]ATCAGGTACATGCAGCCGGAGCCTGGAGAGTGTTTACTGCGGTATAACAACACCGGCAGACTGTGTGTGTGTGTTATTAATCTGTCTGTCTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGTGTCCGCTGTGGCTCTGCTCTATCAGTCTGGCTGTGGCTCGTCTGCTCCGCGTCTCTGCTGTCAGTGTGTGCCGGTGTGTGCGAGCTCTGGTGTGTGTGAGGTGTGTGTCCAGCGCTCAGTCTGCTCCGGGCTCCACCAGAGCCTCCAGCGTCTGCAGTCCAGCGCCTCCTGCTGGAGCGTCCAGAGCTCATACACACCGTCCGGCCGGCTGAGTGTGTGTTGCGGAGCGAGTGTGTGCCGCGGCGGGGCGAGTGTGTGCAGTGGGGCCTCCATCAGCGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7305
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114770 Essential Splice Site 315 727 8 14
Genomic Location (Zv9):
Chromosome 1 (position 60285715)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58603412
GRCz11 1 59309857
KASP Assay ID:
554-4296.1 (used for ordering genotyping assays)
KASP Sequence:
CCACACAATCCCCTCACAGCCAATCAGCTGCTCRATCAGGTACATGCAGC[C/T]GGAGCCTGGAGAGTGTTTACTGCGGTATAACAACACCGGCAGACTGTGTG
Long Flanking Sequence:
GCTGCGACGAGGTGCACACACACACTCACATCCACACACACACATCACTCATGCTCACCTGTGAGCTCTGACACGCTGCTTTCTGATTGGTGCAGATCACCAGGGGGCGGTGCGCTTCGCTGTGGTGACCAATCAGGCGGTGGCAGAGGGCGTGTCTCTCAGGGAAGATGAAAGTGTGTATTTGCACCGCCGTTTGAACAGCTCGCTGGTGAGTTCTCTCTCTCTCTCACACACACACACACACTCACACTGAGAGAGCAGGCGGGGTGTGACCCTGCTGTGGTGTTTCAGGTGTTCCCGCGAGCGCAGAGGAACTTCACCGCACAGGCCGTCTCTGATTGGGTGCTGGAGAACAAAGAGAGCGTCGTCTACTGGATTCAACCAACCAGAGCCAAGAGTTACTCTCTGGAGGCGGAGCTACAGAAGGGCCCTGCCCTCCTGACCTTCCTCCCACACAATCCCCTCACAGCCAATCAGCTGCTCGATCAGGTACATGCAGC[C/T]GGAGCCTGGAGAGTGTTTACTGCGGTATAACAACACCGGCAGACTGTGTGTGTGTGTTATTAATCTGTCTGTCTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGTGTCCGCTGTGGCTCTGCTCTATCAGTCTGGCTGTGGCTCGTCTGCTCCGCGTCTCTGCTGTCAGTGTGTGCCGGTGTGTGCGAGCTCTGGTGTGTGTGAGGTGTGTGTCCAGCGCTCAGTCTGCTCCGGGCTCCACCAGAGCCTCCAGCGTCTGCAGTCCAGCGCCTCCTGCTGGAGCGTCCAGAGCTCATACACACCGTCCGGCCGGCTGAGTGTGTGTTGCGGAGCGAGTGTGTGCCGCGGCGGGGCGAGTGTGTGCAGTGGGGCCTCCATCAGCGGGCTGCAGTGCCGCTCCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38305
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114770 Essential Splice Site 329 727 9 14
Genomic Location (Zv9):
Chromosome 1 (position 60285509)
Other Location(s):
Assembly Chromosome Position
GRCz11 1 59309651
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGTGT[C/T]CGCTGTGGCTCTGCTCTATCAGTCTGGCTGTGGCTCGTCTGCTCCGCGTC
Long Flanking Sequence:
TGGTGAGTTCTCTCTCTCTCTCACACACACACACACACTCACACTGAGAGAGCAGGCGGGGTGTGACCCTGCTGTGGTGTTTCAGGTGTTCCCGCGAGCGCAGAGGAACTTCACCGCACAGGCCGTCTCTGATTGGGTGCTGGAGAACAAAGAGAGCGTCGTCTACTGGATTCAACCAACCAGAGCCAAGAGTTACTCTCTGGAGGCGGAGCTACAGAAGGGCCCTGCCCTCCTGACCTTCCTCCCACACAATCCCCTCACAGCCAATCAGCTGCTCGATCAGGTACATGCAGCCGGAGCCTGGAGAGTGTTTACTGCGGTATAACAACACCGGCAGACTGTGTGTGTGTGTTATTAATCTGTCTGTCTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGTGT[C/T]CGCTGTGGCTCTGCTCTATCAGTCTGGCTGTGGCTCGTCTGCTCCGCGTCTCTGCTGTCAGTGTGTGCCGGTGTGTGCGAGCTCTGGTGTGTGTGAGGTGTGTGTCCAGCGCTCAGTCTGCTCCGGGCTCCACCAGAGCCTCCAGCGTCTGCAGTCCAGCGCCTCCTGCTGGAGCGTCCAGAGCTCATACACACCGTCCGGCCGGCTGAGTGTGTGTTGCGGAGCGAGTGTGTGCCGCGGCGGGGCGAGTGTGTGCAGTGGGGCCTCCATCAGCGGGCTGCAGTGCCGCTCCAACCGCACGCTGCGCTTCTACATGCTGGACGCAGAGCTGCACCGGCCCCTGGCTCACAGACTGGGGGCCCGCGGGGGACTCCACCGGCCCTTCATCACCATCATCAACCTCAGAGACGAGACACACCACGTGCTGGAGCCCAGCGGCACTCTGGGTAACACACACACACACTTACACACATACATAGACACGCACACGCACACACACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32812
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
ENSDART00000114770 Nonsense 647 727 14 14
Genomic Location (Zv9):
Chromosome 1 (position 60281156)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58598853
GRCz11 1 59305298
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGCGGAGCTCCGGGCGCTGCAGCAGGAAGTGTTCTCTCTGCACCGGGTT[C/T]GAGAGCGTGTGTCCCAGCAGCTGGATGTGCTGTGGCGGGAGAACCGGCGG
Long Flanking Sequence:
CACACACACACACACACACACACACACACACACACACACATTTATATCCGTCAGATCAACTGATCAGCACAAACTACAGCACGTCACATAATAAGCTGGAGGAAGCAGCTGTTGTTTACATTCTTATTGCATTATTGCATGCATCACTTCATCAGTGAGCAGAGGTTATGGAGAAACACTTCCATTAATGTTGCATCCAGCATTCTTTAATGCAATAACCCAACATTCACATTAATATAACTGTCTGGACTGTAGCTAGTGTGCGTGTGTGTGTGTGTGTGTGTGTCCGCAGGAAGCAGATGAGTGTGAAGTTTCCAGAAAACACACCCATGACTGTTCCAAACCTGCTGCGCTTCGTTCTGCAGCACACAGGCCACGCCCCATGGGAGGAGCAGCAGTCGGGAGAAGGGGAGGAGCCAGTTAGAGGGGAGGAGTCAGTTTCTCTGCTGGGGGCGGAGCTCCGGGCGCTGCAGCAGGAAGTGTTCTCTCTGCACCGGGTT[C/T]GAGAGCGTGTGTCCCAGCAGCTGGATGTGCTGTGGCGGGAGAACCGGCGGCTCACGCTGCACACGCACACACTGCAGAGCCAGAACCAAGAGCTGCAAGCGCAGATCCACCAGCTGGAGGCGCTGTACCGGGAGAAAACACACCAGCTCACACACACTGTTCACAGACTGCAGGAGCTGGCAGACGCCTCCGAGGAGCTCCTGAAGGAGAACACACTGCTGAAGGTGCTGCTGACCGCTCTGAGCGACGCGGACCACAGACAGACAACAGAAGACAGACAGACAACAGACCACAGACAGGCAACAGAAGAACATGATGAAAACACACATGCAGAGGACGAGTCTTCCTGACCACAGCTCATGTTGTTCTCCAGCACACGTCCAGGGCTTACTCCACCTCATGATCAATCATCAGTTTAAGCAGATGTTTTTTGTTTGTTTTATTAATCAGACGTTTAAAGGGATCGCTCAGCCAATAATCAGCATTTACTCACCGTTTAC
Associated Phenotype:
Not determined