|Institutional Source||Beutler Lab|
|Gene Name||transglutaminase 5|
|Is this an essential gene?||Possibly non essential (E-score: 0.324)|
|Stock #||R0001 (G1)|
|Chromosomal Location||121046111-121085841 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 121077646 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 16 (D16E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028721 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028721]|
|Predicted Effect||probably damaging
AA Change: D16E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D16E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2674|
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele display normal skin barrier function and no signs of skin peeling. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tgm5||
(F):5'- CACACATATCTTGTGGGCCAGTTCC -3'
(R):5'- CTGTATCTGAAGGCTGGGCTGAAG -3'
(F):5'- TGGGCCAGTTCCTTACCAG -3'
(R):5'- agaggaggaagaaagaaaggaag -3'