Incidental Mutation 'R2359:Ggt6'
ID 247078
Institutional Source Beutler Lab
Gene Symbol Ggt6
Ensembl Gene ENSMUSG00000040471
Gene Name gamma-glutamyltransferase 6
Synonyms 9030405D14Rik
MMRRC Submission 040341-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2359 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 72326352-72329226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72328377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 254 (L254F)
Ref Sequence ENSEMBL: ENSMUSP00000098463 (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: L292F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: L292F

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 possibly damaging
Transcript: ENSMUST00000100903
AA Change: L254F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
AA Change: L254F

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 95% (41/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A G 8: 41,133,984 (GRCm39) E484G possibly damaging Het
Akr1c20 C T 13: 4,573,276 (GRCm39) G13D probably damaging Het
Alkbh3 T C 2: 93,838,458 (GRCm39) T38A probably benign Het
Anxa9 A C 3: 95,210,062 (GRCm39) L99R probably damaging Het
Arfgef2 A T 2: 166,702,539 (GRCm39) Y826F probably damaging Het
Arid2 G T 15: 96,259,759 (GRCm39) L306F probably damaging Het
Ccdc141 C T 2: 77,000,746 (GRCm39) V29M probably damaging Het
Cd55b A G 1: 130,345,858 (GRCm39) S187P probably damaging Het
Cep63 A C 9: 102,471,763 (GRCm39) L526V possibly damaging Het
Chtf8 G T 8: 107,612,048 (GRCm39) probably null Het
Clca4b T A 3: 144,631,003 (GRCm39) S286C probably damaging Het
Cpsf1 A G 15: 76,481,873 (GRCm39) V1080A probably benign Het
Csf2rb2 C T 15: 78,176,976 (GRCm39) V165I probably benign Het
Cyp2c40 A T 19: 39,766,398 (GRCm39) V399E probably damaging Het
Dnmt3a T C 12: 3,951,599 (GRCm39) S659P probably damaging Het
Efcab3 T C 11: 104,630,106 (GRCm39) S967P possibly damaging Het
Efr3b G A 12: 4,030,136 (GRCm39) probably benign Het
Epha8 A G 4: 136,673,343 (GRCm39) I147T probably damaging Het
Fbxo48 G A 11: 16,903,602 (GRCm39) W76* probably null Het
Gm4204 T A 1: 135,159,927 (GRCm39) noncoding transcript Het
Golph3l A G 3: 95,499,275 (GRCm39) probably null Het
Gtf2h3 A G 5: 124,728,939 (GRCm39) K166R probably damaging Het
Hsp90aa1 A G 12: 110,661,003 (GRCm39) probably null Het
Hyi A G 4: 118,217,538 (GRCm39) R79G probably benign Het
Igbp1b G A 6: 138,634,713 (GRCm39) P244S probably damaging Het
Ipo8 G A 6: 148,717,975 (GRCm39) probably benign Het
Larp4b C A 13: 9,208,199 (GRCm39) T391K probably damaging Het
Lrba T C 3: 86,256,057 (GRCm39) V1133A probably benign Het
Med13 C T 11: 86,181,861 (GRCm39) probably benign Het
Ncapd2 A G 6: 125,156,379 (GRCm39) probably benign Het
Neurl1b T C 17: 26,660,569 (GRCm39) F299L probably benign Het
Nosip G A 7: 44,723,450 (GRCm39) A39T possibly damaging Het
Nsd1 A G 13: 55,361,524 (GRCm39) D164G possibly damaging Het
Ntn1 G A 11: 68,276,438 (GRCm39) T170M probably damaging Het
Polrmt A T 10: 79,572,396 (GRCm39) L1079Q probably damaging Het
Prxl2c A T 13: 64,460,465 (GRCm39) C12S probably benign Het
Rab30 A G 7: 92,485,005 (GRCm39) D129G possibly damaging Het
Rwdd2b C T 16: 87,233,809 (GRCm39) S97N probably benign Het
Slitrk3 T G 3: 72,956,678 (GRCm39) D698A possibly damaging Het
Smarcd2 T C 11: 106,157,990 (GRCm39) M93V probably benign Het
Tmprss4 A G 9: 45,097,130 (GRCm39) V45A probably benign Het
Vmn1r22 A T 6: 57,877,974 (GRCm39) M1K probably null Het
Vps13a A G 19: 16,630,043 (GRCm39) probably benign 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
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
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'- GGCTTTGAGGTAGATGCACC -3'
(R):5'- ACTGCTCACTGGGGTTTCAG -3'

Sequencing Primer
(F):5'- CTTTGAGGTAGATGCACCCCTGG -3'
(R):5'- CACTGGGGTTTCAGCAGTTTGC -3'
Posted On 2014-10-30