Incidental Mutation 'R0178:Ggt6'
ID 23770
Institutional Source Beutler Lab
Gene Symbol Ggt6
Ensembl Gene ENSMUSG00000040471
Gene Name gamma-glutamyltransferase 6
Synonyms 9030405D14Rik
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0178 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 72326352-72329226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72327644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 150 (H150R)
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: H150R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: H150R

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
Meta Mutation Damage Score 0.4683 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Ggt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Ggt6 APN 11 72,327,632 (GRCm39) missense possibly damaging 0.51
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
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
Predicted Primers PCR Primer
(F):5'- CCAAGAGGAAACTTGGGCTCTGTG -3'
(R):5'- GCCTGAAATCAGGAGTTGCTGACC -3'

Sequencing Primer
(F):5'- ATTATCAGCCCGGCAGGTC -3'
(R):5'- CTGACCAGGGTCAAAGGTTAC -3'
Posted On 2013-04-16