Incidental Mutation 'R6156:Ggt5'
ID 489598
Institutional Source Beutler Lab
Gene Symbol Ggt5
Ensembl Gene ENSMUSG00000006344
Gene Name gamma-glutamyltransferase 5
Synonyms Ggtla1, GGL, gamma-glutamyl leukotrienase, GGT-REL
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6156 (G1)
Quality Score 168.009
Status Validated
Chromosome 10
Chromosomal Location 75425174-75453034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75445160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 389 (T389I)
Ref Sequence ENSEMBL: ENSMUSP00000072074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072217] [ENSMUST00000189972] [ENSMUST00000218807]
AlphaFold Q9Z2A9
Predicted Effect probably damaging
Transcript: ENSMUST00000072217
AA Change: T389I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344
AA Change: T389I

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign Het
Other mutations in Ggt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Ggt5 APN 10 75,445,944 (GRCm39) splice site probably benign
IGL01926:Ggt5 APN 10 75,439,935 (GRCm39) missense probably benign 0.00
IGL02095:Ggt5 APN 10 75,444,637 (GRCm39) missense probably benign 0.01
IGL02252:Ggt5 APN 10 75,438,566 (GRCm39) missense possibly damaging 0.51
IGL02393:Ggt5 APN 10 75,446,071 (GRCm39) splice site probably benign
IGL02515:Ggt5 APN 10 75,425,604 (GRCm39) missense probably benign 0.23
IGL02528:Ggt5 APN 10 75,446,254 (GRCm39) splice site probably benign
IGL02964:Ggt5 APN 10 75,439,962 (GRCm39) missense probably benign 0.08
R0646:Ggt5 UTSW 10 75,438,482 (GRCm39) missense probably damaging 0.99
R0834:Ggt5 UTSW 10 75,440,604 (GRCm39) missense possibly damaging 0.73
R1454:Ggt5 UTSW 10 75,445,742 (GRCm39) missense probably benign 0.01
R1650:Ggt5 UTSW 10 75,440,595 (GRCm39) missense probably benign 0.00
R1846:Ggt5 UTSW 10 75,446,376 (GRCm39) splice site probably null
R1896:Ggt5 UTSW 10 75,440,560 (GRCm39) missense probably damaging 1.00
R2044:Ggt5 UTSW 10 75,439,921 (GRCm39) missense probably damaging 0.97
R2357:Ggt5 UTSW 10 75,445,075 (GRCm39) missense probably benign 0.19
R3151:Ggt5 UTSW 10 75,445,076 (GRCm39) missense probably benign 0.35
R4667:Ggt5 UTSW 10 75,438,865 (GRCm39) missense probably damaging 1.00
R4669:Ggt5 UTSW 10 75,438,865 (GRCm39) missense probably damaging 1.00
R5060:Ggt5 UTSW 10 75,440,608 (GRCm39) missense probably benign
R5756:Ggt5 UTSW 10 75,440,607 (GRCm39) missense probably benign
R6162:Ggt5 UTSW 10 75,425,626 (GRCm39) missense possibly damaging 0.92
R6900:Ggt5 UTSW 10 75,446,371 (GRCm39) missense possibly damaging 0.81
R8258:Ggt5 UTSW 10 75,450,666 (GRCm39) missense probably benign 0.04
R8259:Ggt5 UTSW 10 75,450,666 (GRCm39) missense probably benign 0.04
R9001:Ggt5 UTSW 10 75,445,992 (GRCm39) missense probably benign 0.21
R9510:Ggt5 UTSW 10 75,445,139 (GRCm39) missense probably benign
R9655:Ggt5 UTSW 10 75,444,635 (GRCm39) missense probably benign
Z1088:Ggt5 UTSW 10 75,444,593 (GRCm39) missense possibly damaging 0.81
Z1176:Ggt5 UTSW 10 75,438,452 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCTTCTAGGGTAGACTGGAGGAAG -3'
(R):5'- AACTCAGGCGAAGGAGTCTG -3'

Sequencing Primer
(F):5'- GAACGAGCTCATCCTGCC -3'
(R):5'- AGTCTGCAGTGTCAGGAGC -3'
Posted On 2017-10-10