|Institutional Source||Beutler Lab|
|Gene Name||gamma-glutamyltransferase 5|
|Synonyms||GGL, Ggtla1, GGT-REL, gamma-glutamyl leukotrienase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6900 (G1)|
|Chromosomal Location||75589340-75617200 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 75610537 bp|
|Amino Acid Change||Glutamine to Leucine at position 523 (Q523L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072074 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072217] [ENSMUST00000218807]|
|Predicted Effect||possibly damaging
AA Change: Q523L
PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: Q523L
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutants show an attenuation in neutrophil recruitment in an experimental model of peritonitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ggt5||
(F):5'- TGGCTAGAGTGTTCCCTCTC -3'
(R):5'- CACGGTTTTGAAGTCCTCCAC -3'
(F):5'- TCCCGCGAAACTCCCTG -3'
(R):5'- TTGAAGTCCTCCACCTGGG -3'