Incidental Mutation 'IGL02528:Ggt5'
ID297205
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 #IGL02528
Quality Score
Status
Chromosome10
Chromosomal Location75589340-75617200 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 75610420 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072217] [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: 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,271,976 V888A possibly damaging Het
4930544G11Rik T A 6: 65,953,373 probably benign Het
Abcc2 A G 19: 43,798,504 D188G probably benign Het
Akap11 T C 14: 78,510,867 Y1360C probably damaging Het
C920021L13Rik A G 3: 95,887,316 probably benign Het
Ccdc155 T C 7: 45,183,746 probably benign Het
Ccdc89 A T 7: 90,427,611 Q343L probably damaging Het
Cep350 A T 1: 155,894,615 M1843K probably damaging Het
Ces2b T C 8: 104,834,969 S232P probably damaging Het
Eprs G T 1: 185,413,489 R1165L probably damaging Het
Ercc5 A G 1: 44,167,802 E625G probably benign Het
Evi5l T C 8: 4,193,172 V352A probably benign Het
Gm11564 T A 11: 99,815,467 R46* probably null Het
Gm14597 T A X: 53,578,825 N54I probably damaging Het
Herc2 A G 7: 56,108,893 probably benign Het
Kcnh8 A G 17: 52,803,528 S256G probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mast4 T C 13: 102,853,823 *255W probably null Het
Muc5b A G 7: 141,864,017 M3567V probably benign Het
Noxa1 A G 2: 25,090,633 probably benign Het
Nsd2 T C 5: 33,879,051 probably benign Het
Pcna-ps2 A T 19: 9,283,967 I197L probably benign Het
Pde8a A G 7: 81,293,189 probably benign Het
Polr1a C A 6: 71,964,717 Q1070K probably benign Het
Pum2 G T 12: 8,728,696 G449* probably null Het
Rab29 T C 1: 131,870,011 probably benign Het
Rpap1 T A 2: 119,774,950 probably null Het
Scn7a A G 2: 66,700,175 Y609H probably damaging Het
Slit3 T C 11: 35,578,974 S268P probably benign Het
Stat2 C T 10: 128,290,665 T753I probably benign Het
Susd6 T C 12: 80,870,171 V160A probably damaging Het
Tex52 A G 6: 128,379,497 E51G possibly damaging Het
Tmem102 T A 11: 69,803,706 probably null Het
Ttn A G 2: 76,890,238 probably benign Het
Ubtd2 T A 11: 32,499,249 L32* probably null Het
Usp38 T C 8: 80,993,235 Y455C probably damaging Het
Wwp2 T C 8: 107,554,467 F671L probably benign Het
Xlr3a T C X: 73,094,967 N29D possibly damaging Het
Zan T C 5: 137,465,141 E592G possibly damaging Het
Zmat4 T A 8: 24,015,196 S151T probably damaging Het
Znfx1 T C 2: 167,050,404 T631A probably benign Het
Other mutations in Ggt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Ggt5 APN 10 75610110 splice site probably benign
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
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 On2015-04-16