ZMP

LOC100334173

Ensembl ID:

ENSDARG00000017799

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 7 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa24240	Nonsense	Available for shipment	Available now
sa24241	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa24240

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

Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002690	Nonsense	8	734	1	13

Genomic Location (Zv9):

Chromosome 23 (position 1754846)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	1723031
GRCz11	23	1731888

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCCGACTGGTACTCTCAAACCAGAGGATATGGAGAAAACGGAGCAGAAAT[G/A]GTCCTGTGGTGCATGGTTTCGGCAGTGTTGCTGCTCCTGCCGAAAATCTC

Long Flanking Sequence:

CGCCTCACAGCAAGAAGGTTGCTGGTTCGAGTCCCAGCTGGGTCAGTTGGTGTTTCTGTGTAGAGTTTGCATGTTCTCCCAGTGTTGGCTTGGGTTTCTTCCGGGTGCTCCGGTTTCTCCCACAGTCCAAACACATGTGCTATATGGGAATTAGGTGAACTAAATTCAGCCATAGTGTATGTGTGTGTGTGAATGAGTGTGTATGGATGTTTCCCATTGCTGGGTTGCCGCTATTTAGAACATATGCTGGATAAGTTGGAGGTTCATTCCACTGTGGCAGCCCCTGATAAATAAGGGACTAAGCCGAAGGAAAATGAATGAAGGAATGAACATAAAACAATTAACTCAAAAAAACAAATCATTAAAAGTGTCCCTGTTTTAGTCTGCTTTATTTGACATTATGCCTGCAGAGACATTATCAGTCAGAAACCCTTCGGCTGTGGATCGTTTTCCGACTGGTACTCTCAAACCAGAGGATATGGAGAAAACGGAGCAGAAAT[G/A]GTCCTGTGGTGCATGGTTTCGGCAGTGTTGCTGCTCCTGCCGAAAATCTCACAAGAACACAAACAGCACCCCACACGCTGCTAATACAACCGCAGAAAAAACAGAGACACCAGCCACAGGTAAACTAACACACGAGGGAGAAATATTATTAGAACTATTATCATTCACTCTCATTCATGTCTTTTTAAATCTGCATGACTGAAATGATCATTTTTTTGATGTGCAACTAAAGCACACAAGATTCAAATTCTCTGTCTTTACTTCATATTTCAATCAATTTTTGGTCATTTAAACCAGTGTTTCCCAACCCTGTTCCTGAAGGCACATTAACAGTACACATTTTCAACCTCTCCCTAATCAAACACACCTAAATCAACTCATCAGAACATTAGAAGAGACTCCAAAGCCTGAAATTAATAGACAAAGATAAGATAAAGATTAAATAGATAAAGGAGACACTAGTTTAGGGTTGTGAAACACTAGTTTAAAAGAACCAATAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa24241

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

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002690	Essential Splice Site	687	734	12	13

Genomic Location (Zv9):

Chromosome 23 (position 1769909)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	1738094
GRCz11	23	1746951

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTCGCATTGAAGGACTGGGGCTGCAGCACGTCAGAGAGATTTCACACGGG[T/C]AAGTTTACCATAGTAATAATACACAAGGTCACTTTTGTATTTGCTCAAAT

Long Flanking Sequence:

GTATTCATTCGATTATATTATATTGCTGATACCAAATGTAAATGCATATCATCTCTTATTTTCCTTCATAGCTGAGACTGTGGAGTGGACTTTGCTGTACGATCACTATAAAGATCATTTGGTGGACCAGGCCATGCTGATGCTCATACTCACGGGACGGGTTAATGAGACCAAACAGGTCCTGGTAAACCAGTTTCACTTCAGACTGCGCACACCCGACCTGGCCATCAAAGTGAGTTTTCTGCCTTAAAGGGACACTTGAATGAATGTGAATGAAACAGGAGGGCTAATAACTGTGACTTCTACTGTAGGTGGGTGAATATATAACAGTTGTTGTAAACGTTTGCTCATTCTCCTCTCAGACTGAAGGAGATGCTGTTGTTGGTAAAGAGTTGAAGGCTTCGATCACTTTCCGCAATCCTCTTAAGCAAACGCTGAAGAACGTAAAGTTTCGCATTGAAGGACTGGGGCTGCAGCACGTCAGAGAGATTTCACACGGG[T/C]AAGTTTACCATAGTAATAATACACAAGGTCACTTTTGTATTTGCTCAAATGTAATACAAATTTTGCACAAGTATATCAGTTTTTTTTCATGGCAGGCCTGCTTATAAAACTAAGCTCATTAAAATGTTCTTTATCAATTATTAACAATCTGTCCGATAATACATTAATACCAATGCATCTGCTATCAGTAATGCTTTAGGCCAAATAAATGTTTGACCATGTGGAAAAAAAACTGGTTATAATCTAACTGAGCTTGATTATATGTATTTTATTTCATTGCTGAATTCTTAACACCTTGTTTATGACTCTTCTGACTGTAAATATGTCTACTTTATCCCTTACATTACATAATAACAATATTTGTGCTACAACAATTAATGCAAGACTATATTGTTCTTGTTCTCAGAAACATTGAAAGCTTGGCCACAGTGACTCTGACGGAGACGTTTATTCCTCTGGAGGCAGGGCAACACAAACTGCTGGCTGCACTGGACTCACGG

Associated Phenotype:

Not determined