Incidental Mutation 'IGL02442:Ggt6'
ID 293466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ggt6
Ensembl Gene ENSMUSG00000040471
Gene Name gamma-glutamyltransferase 6
Synonyms 9030405D14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02442
Quality Score
Status
Chromosome 11
Chromosomal Location 72326352-72329226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72327632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
Ref Sequence ENSEMBL: ENSMUSP00000075773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045633] [ENSMUST00000076443] [ENSMUST00000100903] [ENSMUST00000108499]
AlphaFold Q6PDE7
Predicted Effect probably benign
Transcript: ENSMUST00000045633
SMART Domains Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:DNA_pol_phi 70 835 1.2e-194 PFAM
low complexity region 839 852 N/A INTRINSIC
low complexity region 1080 1090 N/A INTRINSIC
low complexity region 1109 1122 N/A INTRINSIC
low complexity region 1259 1269 N/A INTRINSIC
low complexity region 1314 1329 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000076443
AA Change: V146A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: V146A

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
low complexity region 53 77 N/A INTRINSIC
Pfam:G_glu_transpept 124 179 1.4e-9 PFAM
Pfam:G_glu_transpept 180 276 7.6e-11 PFAM
Pfam:G_glu_transpept 327 402 1.4e-9 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 475 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100903
SMART Domains Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
low complexity region 53 77 N/A INTRINSIC
Pfam:G_glu_transpept 125 238 2.1e-11 PFAM
Pfam:G_glu_transpept 290 367 6.7e-9 PFAM
low complexity region 411 422 N/A INTRINSIC
low complexity region 437 451 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108499
SMART Domains Protein: ENSMUSP00000104139
Gene: ENSMUSG00000040471

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162048
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 A G 11: 80,068,032 (GRCm39) E348G probably damaging Het
Ahnak G A 19: 8,981,380 (GRCm39) G888D probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap97d1 T C 11: 101,881,652 (GRCm39) V116A probably benign Het
Csde1 T C 3: 102,962,135 (GRCm39) C649R probably benign Het
Cym A C 3: 107,121,601 (GRCm39) D230E probably damaging Het
Dnah1 A T 14: 31,009,835 (GRCm39) I1911N probably damaging Het
Fat1 A G 8: 45,403,360 (GRCm39) H37R probably benign Het
Glud1 T A 14: 34,057,395 (GRCm39) L54* probably null Het
Grk6 A G 13: 55,606,750 (GRCm39) probably benign Het
Gsta4 G A 9: 78,116,447 (GRCm39) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm39) V620M probably damaging Het
Hspe1 T C 1: 55,128,201 (GRCm39) probably benign Het
Icmt T C 4: 152,383,173 (GRCm39) V76A possibly damaging Het
Ifrd1 A G 12: 40,266,316 (GRCm39) probably benign Het
Lgals12 T C 19: 7,584,019 (GRCm39) probably benign Het
Lypla1 T C 1: 4,902,610 (GRCm39) probably benign Het
Map1b A T 13: 99,644,706 (GRCm39) W66R probably damaging Het
Matn3 T A 12: 9,017,678 (GRCm39) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm39) R191W probably damaging Het
Mycbp2 T C 14: 103,551,811 (GRCm39) K140R probably benign Het
Ndfip1 C T 18: 38,580,789 (GRCm39) S66L probably damaging Het
Neu1 A G 17: 35,153,445 (GRCm39) I323V probably benign Het
Nup205 A T 6: 35,167,003 (GRCm39) T341S probably benign Het
Or4f7 G A 2: 111,644,336 (GRCm39) T245I probably benign Het
Or5b112 T A 19: 13,319,484 (GRCm39) C121S probably benign Het
Or5b3 T A 19: 13,388,351 (GRCm39) N139K probably benign Het
Ovch2 T A 7: 107,395,755 (GRCm39) I88F possibly damaging Het
Pkd1 T A 17: 24,784,200 (GRCm39) S249T probably benign Het
Plekhg3 A T 12: 76,625,127 (GRCm39) Q1324L probably benign Het
Ppara T A 15: 85,685,344 (GRCm39) V431E probably benign Het
Prkaa1 T G 15: 5,206,369 (GRCm39) H408Q probably damaging Het
Sap25 T A 5: 137,640,257 (GRCm39) N108K probably benign Het
Setd5 A C 6: 113,087,341 (GRCm39) I81L possibly damaging Het
Sinhcaf A T 6: 148,830,005 (GRCm39) probably null Het
Sri T A 5: 8,112,411 (GRCm39) M78K probably damaging Het
Tyro3 A G 2: 119,639,349 (GRCm39) N352S probably benign Het
Ubr5 T A 15: 38,038,145 (GRCm39) E332V possibly damaging Het
Vmn2r19 G T 6: 123,286,621 (GRCm39) V85F possibly damaging Het
Vmn2r53 A T 7: 12,315,656 (GRCm39) V721D probably damaging Het
Vwa5a A G 9: 38,646,080 (GRCm39) M483V probably benign Het
Zfp786 T A 6: 47,798,301 (GRCm39) Q212H probably benign Het
Other mutations in Ggt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
hallo UTSW 11 72,328,493 (GRCm39) missense probably damaging 0.98
IGL03097:Ggt6 UTSW 11 72,327,639 (GRCm39) missense possibly damaging 0.71
R0080:Ggt6 UTSW 11 72,328,021 (GRCm39) missense possibly damaging 0.92
R0178:Ggt6 UTSW 11 72,327,644 (GRCm39) missense possibly damaging 0.71
R0595:Ggt6 UTSW 11 72,328,493 (GRCm39) missense probably damaging 0.98
R0842:Ggt6 UTSW 11 72,328,088 (GRCm39) nonsense probably null
R1131:Ggt6 UTSW 11 72,326,506 (GRCm39) missense possibly damaging 0.82
R1606:Ggt6 UTSW 11 72,328,559 (GRCm39) missense possibly damaging 0.92
R2029:Ggt6 UTSW 11 72,328,367 (GRCm39) missense possibly damaging 0.90
R2359:Ggt6 UTSW 11 72,328,377 (GRCm39) missense possibly damaging 0.92
R2869:Ggt6 UTSW 11 72,328,187 (GRCm39) missense probably benign 0.00
R2869:Ggt6 UTSW 11 72,328,187 (GRCm39) missense probably benign 0.00
R4462:Ggt6 UTSW 11 72,328,654 (GRCm39) missense possibly damaging 0.52
R4608:Ggt6 UTSW 11 72,328,769 (GRCm39) missense probably benign 0.04
R4735:Ggt6 UTSW 11 72,327,425 (GRCm39) missense probably benign
R5431:Ggt6 UTSW 11 72,328,564 (GRCm39) missense possibly damaging 0.71
R5648:Ggt6 UTSW 11 72,326,542 (GRCm39) missense possibly damaging 0.46
R6390:Ggt6 UTSW 11 72,327,437 (GRCm39) missense possibly damaging 0.86
R6717:Ggt6 UTSW 11 72,328,346 (GRCm39) nonsense probably null
R7506:Ggt6 UTSW 11 72,328,724 (GRCm39) missense possibly damaging 0.73
R7798:Ggt6 UTSW 11 72,326,367 (GRCm39) start gained probably benign
R9025:Ggt6 UTSW 11 72,328,123 (GRCm39) missense possibly damaging 0.52
R9057:Ggt6 UTSW 11 72,328,067 (GRCm39) missense probably damaging 0.98
R9411:Ggt6 UTSW 11 72,326,560 (GRCm39) missense probably damaging 0.99
Z1177:Ggt6 UTSW 11 72,327,425 (GRCm39) missense probably benign
Posted On 2015-04-16