|Institutional Source||Beutler Lab|
|Gene Name||transglutaminase 3, E polypeptide|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2104 (G1)|
|Chromosomal Location||130012349-130050399 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 130037483 bp|
|Amino Acid Change||Valine to Isoleucine at position 332 (V332I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105928 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110299]|
|Predicted Effect||probably benign
AA Change: V332I
PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V332I
|Meta Mutation Damage Score||0.218|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tgm3||
(F):5'- CGCAAGCTCTGTTTCCTGTG -3'
(R):5'- AGGAGGGATCCATTCAAATGAC -3'
(F):5'- CTGTGTCTCTGAGCCTCAGG -3'
(R):5'- GTACACTATGGAGCTAGAGAG -3'