Busch Lab

ZMP

LOC793448

Ensembl ID:
ENSDARG00000005913
Human Orthologue:
TGM1
Human Description:
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) [So
Mouse Orthologue:
Tgm1
Mouse Description:
transglutaminase 1, K polypeptide Gene [Source:MGI Symbol;Acc:MGI:98730]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa9842 Nonsense Available for shipment Available now
sa19336 Nonsense Mutation detected in F1 DNA Not yet available
sa19337 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa9467 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa9842
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000041912 Nonsense 240 689 5 12
ENSDART00000041912 Nonsense 240 689 5 12
Genomic Location (Zv9):
Chromosome 23 (position 40510739)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 40284557
GRCz11 23 40247619
KASP Assay ID:
554-6203.1 (used for ordering genotyping assays)
KASP Sequence:
TCTCACAYAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCA
Long Flanking Sequence:
CTACAGAACAAACCATCCTTATACAATAACTTGCCTAATTACCCTAACCTGTCTAGTTCACCTTAATAACCTAGTAAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTATTGAAAAATATCATGTAAAATATTATTTACTGTCATCATGACAAAGATGAAATAAATCAGTTATTAGTAATAGGTTTCTAAAACTATTATGCTTAGAAATGTGCTGAAACAATCTTCCCTCCATTAAACAGAAATTGGGGAAAAAATTAAACAGGGGCGCTAATAATACAGGGGGGCTAATAATTCTGACTTCAACTGTATATATATATATTAGGACAATATGAGATGACTTATGTAGTGATGAGATTTTTGTCACATCGCCCAACCCTATCAGAAAGCCTGATGTATGTCTATCATGATGATGTTTGGATAGAGAACTGCTAACACTTACAACCATCTCACACAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCAGTGCCATCTTGAAGCAATACCACAAATGTGGAGGAGTACCTGTCAAATATGGACAGAGCTTGGCCTTTGCTGGAGTCACCAACACACGTGAGACATCTTTCAAAATGAACAAGGAGAAAAAAAATGGTCTTTCTAAATGTGATGCACTTCTATTCTTCTTATCTTCCTCTTAGTGTTGAGGTGTTTTGGTATTCCTGCTCGGCCGGTCACCAACTTCTGCTCTGCTCACGACACTGATGTGTCCATGACTGTAGACATTTATCTTGACGAGAACTATGACCTGATCGACAGCCTGAACCGGGACTCAATCTGGTAAGAGTCTGTGTAAATCTTTTTCATTCTGTTCTGTAGCATCAGCAATATATATTAATACCGTCTGTTATAGTACTATTACATTTTACATTTACATTATTAGTATATCATTATAATATATTATTAGCGACGCAGTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19336
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000041912 Nonsense 240 689 5 12
ENSDART00000041912 Nonsense 240 689 5 12
Genomic Location (Zv9):
Chromosome 23 (position 40510739)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 40284557
GRCz11 23 40247619
KASP Assay ID:
554-6203.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCACACAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCA
Long Flanking Sequence:
CTACAGAACAAACCATCCTTATACAATAACTTGCCTAATTACCCTAACCTGTCTAGTTCACCTTAATAACCTAGTAAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTATTGAAAAATATCATGTAAAATATTATTTACTGTCATCATGACAAAGATGAAATAAATCAGTTATTAGTAATAGGTTTCTAAAACTATTATGCTTAGAAATGTGCTGAAACAATCTTCCCTCCATTAAACAGAAATTGGGGAAAAAATTAAACAGGGGCGCTAATAATACAGGGGGGCTAATAATTCTGACTTCAACTGTATATATATATATTAGGACAATATGAGATGACTTATGTAGTGATGAGATTTTTGTCACATCGCCCAACCCTATCAGAAAGCCTGATGTATGTCTATCATGATGATGTTTGGATAGAGAACTGCTAACACTTACAACCATCTCACACAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCAGTGCCATCTTGAAGCAATACCACAAATGTGGAGGAGTACCTGTCAAATATGGACAGAGCTTGGCCTTTGCTGGAGTCACCAACACACGTGAGACATCTTTCAAAATGAACAAGGAGAAAAAAAATGGTCTTTCTAAATGTGATGCACTTCTATTCTTCTTATCTTCCTCTTAGTGTTGAGGTGTTTTGGTATTCCTGCTCGGCCGGTCACCAACTTCTGCTCTGCTCACGACACTGATGTGTCCATGACTGTAGACATTTATCTTGACGAGAACTATGACCTGATCGACAGCCTGAACCGGGACTCAATCTGGTAAGAGTCTGTGTAAATCTTTTTCATTCTGTTCTGTAGCATCAGCAATATATATTAATACCGTCTGTTATAGTACTATTACATTTTACATTTACATTATTAGTATATCATTATAATATATTATTAGCGACGCAGTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19337
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
ENSDART00000041912 Essential Splice Site 642 689 11 12
ENSDART00000041912 Essential Splice Site 642 689 11 12
Genomic Location (Zv9):
Chromosome 23 (position 40521268)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 40295086
GRCz11 23 40237090
KASP Assay ID:
554-6204.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCGCATTGAGGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGT
Long Flanking Sequence:
TTCATGTTATAGTTGAGATTACGTCAAACACTGAATAAAAATACACATTTCAAAGCACTTCATGAAACCTTAACACTGTATTTGAATAGTTCTGATGTTGGGGTTAGGGATCAGGGTGATATTACAGACGCTCATCACAGCACTCAAAATTTACAATGGTAGAACAATCTGATAGGTAGTATATCTCATCAACAAAATGTGCTGCCTACTTTTTTAAAGGGAATGAGGGCAATCTGACAGGGTAGGGCAAAATTGACTGGCTCACGCTTAGTTTTTTATAATCTATTTAAAGCAGTGCTTATTATCTGGACTTTTGAAAGTGGTGTCTGTGGTGTAAATGTCGTTTGTGCTTTTACCTTTCAGCCTGGATGCGATTGTGTTGTGGGCAAAGAAGTGCCAGTCAAAATCACTTTCCAAAACCCACTGCCCTGCGTGCTGAAAAACGCCATCTTCCGCATTGAGGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGTCTTAAGTTGCACGGGTAAATTTTTGTGAATAGCCAAAAATACATTGCAGAGTGTAAAAAAAAAAAGGCAGATTCCACACAATTCCTTCATGTTGCCCCAACACAAATTGATTAAATTAACTTAATTGTTTTTACAAATTTAAGTGGATTAAACATAAACCAATTAAGTTGTCCCCCCGAAAAAACGTAAATATTGTGTTTTTAGGTCATTTTGAATAAGTAGTTTAAACAGATCTTGGCATTGTATGTTTTTGGCAGGAATAGTGTACATTAATTAGCTTTGCTGCAAATGCAACCGAGAAATAGCCAGAAGGCTATTTTCATCCTTATTATATCCTTTATACATCCTTATTATTTAAATTATTTTTCATATGTAAAGATATTTGTGTATTGCTCTACATCTTGTGTGTATTAAGCAGTGTGTAACCGAGGCGCACAACTAACGCGCTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9467
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000041912 Essential Splice Site 642 689 11 12
ENSDART00000041912 Essential Splice Site 642 689 11 12
Genomic Location (Zv9):
Chromosome 23 (position 40521268)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 40295086
GRCz11 23 40237090
KASP Assay ID:
554-6204.1 (used for ordering genotyping assays)
KASP Sequence:
TTCCGCATTGARGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGT
Long Flanking Sequence:
TTCATGTTATAGTTGAGATTACGTCAAACACTGAATAAAAATACACATTTCAAAGCACTTCATGAAACCTTAACACTGTATTTGAATAGTTCTGATGTTGGGGTTAGGGATCAGGGTGATATTACAGACGCTCATCACAGCACTCAAAATTTACAATGGTAGAACAATCTGATAGGTAGTATATCTCATCAACAAAATGTGCTGCCTACTTTTTTAAAGGGAATGAGGGCAATCTGACAGGGTAGGGCAAAATTGACTGGCTCACGCTTAGTTTTTTATAATCTATTTAAAGCAGTGCTTATTATCTGGACTTTTGAAAGTGGTGTCTGTGGTGTAAATGTCGTTTGTGCTTTTACCTTTCAGCCTGGATGCGATTGTGTTGTGGGCAAAGAAGTGCCAGTCAAAATCACTTTCCAAAACCCACTGCCCTGCGTGCTGAAAAACGCCATCTTCCGCATTGAGGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGTCTTAAGTTGCACGGGTAAATTTTTGTGAATAGCCAAAAATACATTGCAGAGTGTAAAAAAAAAAAGGCAGATTCCACACAATTCCTTCATGTTGCCCCAACACAAATTGATTAAATTAACTTAATTGTTTTTACAAATTTAAGTGGATTAAACATAAACCAATTAAGTTGTCCCCCCGAAAAAACGTAAATATTGTGTTTTTAGGTCATTTTGAATAAGTAGTTTAAACAGATCTTGGCATTGTATGTTTTTGGCAGGAATAGTGTACATTAATTAGCTTTGCTGCAAATGCAACCGAGAAATAGCCAGAAGGCTATTTTCATCCTTATTATATCCTTTATACATCCTTATTATTTAAATTATTTTTCATATGTAAAGATATTTGTGTATTGCTCTACATCTTGTGTGTATTAAGCAGTGTGTAACCGAGGCGCACAACTAACGCGCTCT
Associated Phenotype:
Not determined