Incidental Mutation 'IGL01503:Ggt5'
ID88968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ggt5
Ensembl Gene ENSMUSG00000006344
Gene Namegamma-glutamyltransferase 5
SynonymsGGL, Ggtla1, GGT-REL, gamma-glutamyl leukotrienase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01503
Quality Score
Status
Chromosome10
Chromosomal Location75589340-75617200 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 75610110 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072217] [ENSMUST00000189972] [ENSMUST00000218807]
Predicted Effect probably benign
Transcript: ENSMUST00000072217
SMART Domains Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:G_glu_transpept 58 568 1.6e-164 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188444
Predicted Effect probably benign
Transcript: ENSMUST00000189972
SMART Domains Protein: ENSMUSP00000139459
Gene: ENSMUSG00000006344

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189991
Predicted Effect probably benign
Transcript: ENSMUST00000218807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219247
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Ggt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Ggt5 APN 10 75604101 missense probably benign 0.00
IGL02095:Ggt5 APN 10 75608803 missense probably benign 0.01
IGL02252:Ggt5 APN 10 75602732 missense possibly damaging 0.51
IGL02393:Ggt5 APN 10 75610237 splice site probably benign
IGL02515:Ggt5 APN 10 75589770 missense probably benign 0.23
IGL02528:Ggt5 APN 10 75610420 splice site probably benign
IGL02964:Ggt5 APN 10 75604128 missense probably benign 0.08
R0646:Ggt5 UTSW 10 75602648 missense probably damaging 0.99
R0834:Ggt5 UTSW 10 75604770 missense possibly damaging 0.73
R1454:Ggt5 UTSW 10 75609908 missense probably benign 0.01
R1650:Ggt5 UTSW 10 75604761 missense probably benign 0.00
R1846:Ggt5 UTSW 10 75610542 splice site probably null
R1896:Ggt5 UTSW 10 75604726 missense probably damaging 1.00
R2044:Ggt5 UTSW 10 75604087 missense probably damaging 0.97
R2357:Ggt5 UTSW 10 75609241 missense probably benign 0.19
R3151:Ggt5 UTSW 10 75609242 missense probably benign 0.35
R4667:Ggt5 UTSW 10 75603031 missense probably damaging 1.00
R4669:Ggt5 UTSW 10 75603031 missense probably damaging 1.00
R5060:Ggt5 UTSW 10 75604774 missense probably benign
R5756:Ggt5 UTSW 10 75604773 missense probably benign
R6156:Ggt5 UTSW 10 75609326 missense probably damaging 1.00
R6162:Ggt5 UTSW 10 75589792 missense possibly damaging 0.92
R6900:Ggt5 UTSW 10 75610537 missense possibly damaging 0.81
R8258:Ggt5 UTSW 10 75614832 missense probably benign 0.04
R8259:Ggt5 UTSW 10 75614832 missense probably benign 0.04
Z1088:Ggt5 UTSW 10 75608759 missense possibly damaging 0.81
Z1176:Ggt5 UTSW 10 75602618 critical splice acceptor site probably null
Posted On2013-12-03