Incidental Mutation 'R7823:Ggt1'
ID 602014
Institutional Source Beutler Lab
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Name gamma-glutamyltransferase 1
Synonyms Ggtp, dwg, GGT, CD224
MMRRC Submission 045877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7823 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75397438-75422034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75410175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 36 (V36M)
Ref Sequence ENSEMBL: ENSMUSP00000115818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006508] [ENSMUST00000124259] [ENSMUST00000125770] [ENSMUST00000128886] [ENSMUST00000129232] [ENSMUST00000131565] [ENSMUST00000134503] [ENSMUST00000139459] [ENSMUST00000140219] [ENSMUST00000143226] [ENSMUST00000143792] [ENSMUST00000145079] [ENSMUST00000145928] [ENSMUST00000151212] [ENSMUST00000152657] [ENSMUST00000141062]
AlphaFold Q60928
Predicted Effect possibly damaging
Transcript: ENSMUST00000006508
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 4.9e-179 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124259
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 235 1.6e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125770
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117968
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 88 7.9e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128886
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 126 2.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129020
SMART Domains Protein: ENSMUSP00000118825
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
Pfam:G_glu_transpept 1 263 3.3e-88 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129232
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 189 9e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131565
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 126 2.8e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134503
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 1.4e-184 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000139459
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 243 1.7e-73 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140219
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 126 2.8e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143226
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 190 5.9e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143792
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 237 2.2e-71 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145079
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 110 2.1e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145928
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 210 6.5e-59 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000151212
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119387
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
PDB:4GDX|A 23 60 3e-12 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000152657
AA Change: V36M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345
AA Change: V36M

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 110 2.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141062
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: This gene encodes gamma-glutamyl transpeptidase, a plasmamembrane-associated enzyme that cleaves the peptide bond between gamma-glutamyl and cysteinyl glycine moieties of glutathione. The encoded protein is autocatalytically processed to generate an enzymatically active heterodimer comprised of heavy and light chains. Mice lacking the encoded protein grow slowly, develop cataracts and have elevated levels of glutathione in plasma and urine. Transgenic overexpression of the encoded protein in mice enhances osteoclastic bone resorption. The mutant alleles termed 'Dwarf grey' and 'Dwarf grey Bayer' in mice are associated with deletions in this gene. A gamma-glutamyl transpeptidase paralog is located adjacent to this gene. Alternative splicing results in multiple transcript variants. Additional transcripts using alternate promoters and differing in 5' UTRs have been described. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutants may exhibit impaired growth, skeletal abnormalities, cataracts, lethargic behavior, premature greying, sterility, and shortened life span. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,771,484 (GRCm39) V869A probably benign Het
Alox15 C A 11: 70,235,494 (GRCm39) V623L possibly damaging Het
Angpt4 T G 2: 151,753,286 (GRCm39) L12R unknown Het
Cdh24 C T 14: 54,874,875 (GRCm39) A42T probably damaging Het
Cep250 T A 2: 155,807,336 (GRCm39) S234T possibly damaging Het
Clnk T A 5: 38,907,694 (GRCm39) Y188F probably benign Het
Csmd2 A T 4: 128,103,698 (GRCm39) T306S Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dgka T A 10: 128,572,135 (GRCm39) Y50F probably benign Het
Dgkh C T 14: 78,841,921 (GRCm39) V434I probably benign Het
Epb41 A G 4: 131,701,993 (GRCm39) probably null Het
Fam220a A G 5: 143,549,011 (GRCm39) D141G probably damaging Het
Fbxo11 A G 17: 88,300,610 (GRCm39) L807S probably damaging Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Gjb2 T C 14: 57,337,963 (GRCm39) I82V probably benign Het
Gm7579 T A 7: 141,766,307 (GRCm39) C238S unknown Het
Hps1 G A 19: 42,744,146 (GRCm39) T681M possibly damaging Het
Iqck T C 7: 118,472,046 (GRCm39) Y64H probably damaging Het
Ldlr G A 9: 21,653,602 (GRCm39) probably null Het
Macc1 A C 12: 119,410,800 (GRCm39) K523Q probably damaging Het
Mon2 A T 10: 122,868,559 (GRCm39) I498N probably damaging Het
Mphosph9 T C 5: 124,442,319 (GRCm39) E373G probably damaging Het
Mthfr T C 4: 148,135,944 (GRCm39) I314T probably benign Het
Mtmr4 T G 11: 87,503,015 (GRCm39) I1023S probably damaging Het
Myo9a T A 9: 59,719,233 (GRCm39) F507I probably damaging Het
Nlrp10 T A 7: 108,523,468 (GRCm39) M671L probably benign Het
Nt5c1a T C 4: 123,102,365 (GRCm39) V97A probably damaging Het
Nxpe5 A G 5: 138,237,844 (GRCm39) R123G possibly damaging Het
Obscn T C 11: 58,998,766 (GRCm39) S1369G probably damaging Het
Oga A G 19: 45,765,354 (GRCm39) V151A possibly damaging Het
Or4a75 A G 2: 89,447,613 (GRCm39) *308Q probably null Het
Or52m2 A G 7: 102,264,164 (GRCm39) S11P probably benign Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Or6c33 T A 10: 129,854,136 (GRCm39) M302K probably benign Het
Or6k2 A G 1: 173,987,254 (GRCm39) K305R probably benign Het
Or8b57 A T 9: 40,003,644 (GRCm39) V202E probably damaging Het
Pak6 G A 2: 118,525,793 (GRCm39) A618T probably benign Het
Pax7 T A 4: 139,468,150 (GRCm39) E489V probably benign Het
Phactr4 G A 4: 132,088,930 (GRCm39) R651* probably null Het
Pik3c2b C T 1: 133,030,043 (GRCm39) R1435C probably damaging Het
Pla2g4c A T 7: 13,063,944 (GRCm39) I68F probably damaging Het
Plppr1 A G 4: 49,325,703 (GRCm39) M300V probably benign Het
Ptgfrn C T 3: 100,950,725 (GRCm39) V863I probably damaging Het
Rabep2 T C 7: 126,037,893 (GRCm39) S222P probably damaging Het
Ramacl A G 13: 67,055,351 (GRCm39) probably benign Het
Rbm20 A T 19: 53,831,785 (GRCm39) D673V probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scn4a C A 11: 106,233,334 (GRCm39) A413S probably damaging Het
Scn9a A T 2: 66,314,135 (GRCm39) M1850K probably damaging Het
Sh3tc2 T A 18: 62,086,188 (GRCm39) M1K probably null Het
Slc22a28 G A 19: 8,041,890 (GRCm39) T439I probably benign Het
Slc25a36 A G 9: 96,966,444 (GRCm39) probably null Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Spata3 T C 1: 85,949,781 (GRCm39) probably benign Het
Srp68 C T 11: 116,156,265 (GRCm39) R159Q probably damaging Het
Ssbp2 C A 13: 91,790,448 (GRCm39) L104I possibly damaging Het
St8sia3 T A 18: 64,400,027 (GRCm39) F7L probably benign Het
Stard9 T C 2: 120,532,587 (GRCm39) V2948A probably damaging Het
Syne4 A G 7: 30,018,280 (GRCm39) T341A probably benign Het
Tcf7l2 T A 19: 55,731,521 (GRCm39) D91E possibly damaging Het
Tekt5 T A 16: 10,203,943 (GRCm39) I236F probably damaging Het
Tlk2 T C 11: 105,144,133 (GRCm39) Y316H probably damaging Het
Tmem184b C T 15: 79,249,491 (GRCm39) A326T probably benign Het
Tnks2 G A 19: 36,829,954 (GRCm39) probably null Het
Trpc4 C A 3: 54,209,640 (GRCm39) Y668* probably null Het
Ttc9c A T 19: 8,793,286 (GRCm39) F118Y probably benign Het
Ulk1 C T 5: 110,946,780 (GRCm39) C95Y probably damaging Het
Vars2 A C 17: 35,970,028 (GRCm39) L787R probably damaging Het
Vwa3a T C 7: 120,372,185 (GRCm39) S254P probably damaging Het
Wdr81 T C 11: 75,340,627 (GRCm39) Y1250C probably damaging Het
Xirp2 A T 2: 67,342,118 (GRCm39) D1453V probably damaging Het
Zbtb38 A T 9: 96,568,029 (GRCm39) C1018* probably null Het
Zfp622 C T 15: 25,984,709 (GRCm39) T25M probably damaging Het
Other mutations in Ggt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Ggt1 APN 10 75,420,697 (GRCm39) missense probably benign 0.15
IGL01593:Ggt1 APN 10 75,421,121 (GRCm39) critical splice donor site probably null
IGL02713:Ggt1 APN 10 75,410,178 (GRCm39) missense probably damaging 1.00
IGL03276:Ggt1 APN 10 75,416,331 (GRCm39) unclassified probably benign
chained UTSW 10 75,421,791 (GRCm39) missense probably damaging 0.99
religion UTSW 10 75,421,290 (GRCm39) missense possibly damaging 0.89
rigidity UTSW 10 75,415,185 (GRCm39) missense possibly damaging 0.70
PIT4498001:Ggt1 UTSW 10 75,414,689 (GRCm39) missense possibly damaging 0.95
R0373:Ggt1 UTSW 10 75,415,104 (GRCm39) missense probably benign 0.11
R0420:Ggt1 UTSW 10 75,412,047 (GRCm39) splice site probably benign
R0505:Ggt1 UTSW 10 75,421,791 (GRCm39) missense probably damaging 0.99
R0630:Ggt1 UTSW 10 75,421,336 (GRCm39) splice site probably null
R1837:Ggt1 UTSW 10 75,415,128 (GRCm39) missense probably benign 0.00
R2655:Ggt1 UTSW 10 75,417,219 (GRCm39) nonsense probably null
R2656:Ggt1 UTSW 10 75,417,219 (GRCm39) nonsense probably null
R2910:Ggt1 UTSW 10 75,416,430 (GRCm39) missense probably benign 0.09
R3840:Ggt1 UTSW 10 75,417,219 (GRCm39) nonsense probably null
R3841:Ggt1 UTSW 10 75,417,219 (GRCm39) nonsense probably null
R4744:Ggt1 UTSW 10 75,421,733 (GRCm39) missense probably benign 0.00
R5254:Ggt1 UTSW 10 75,415,032 (GRCm39) splice site probably null
R5323:Ggt1 UTSW 10 75,421,495 (GRCm39) critical splice acceptor site probably null
R5326:Ggt1 UTSW 10 75,421,540 (GRCm39) critical splice donor site probably null
R5512:Ggt1 UTSW 10 75,420,718 (GRCm39) missense probably damaging 0.99
R5579:Ggt1 UTSW 10 75,421,782 (GRCm39) missense probably damaging 1.00
R5707:Ggt1 UTSW 10 75,421,072 (GRCm39) missense probably benign 0.01
R5961:Ggt1 UTSW 10 75,421,736 (GRCm39) splice site probably null
R6159:Ggt1 UTSW 10 75,420,799 (GRCm39) missense probably damaging 1.00
R6239:Ggt1 UTSW 10 75,421,515 (GRCm39) splice site probably null
R7224:Ggt1 UTSW 10 75,410,110 (GRCm39) missense possibly damaging 0.86
R7570:Ggt1 UTSW 10 75,421,428 (GRCm39) missense probably damaging 1.00
R7649:Ggt1 UTSW 10 75,421,290 (GRCm39) missense possibly damaging 0.89
R7702:Ggt1 UTSW 10 75,412,116 (GRCm39) missense probably benign 0.00
R7713:Ggt1 UTSW 10 75,421,508 (GRCm39) missense probably damaging 1.00
R8070:Ggt1 UTSW 10 75,414,733 (GRCm39) missense probably damaging 0.98
R8185:Ggt1 UTSW 10 75,421,040 (GRCm39) missense possibly damaging 0.83
R8260:Ggt1 UTSW 10 75,417,245 (GRCm39) missense probably damaging 1.00
R8441:Ggt1 UTSW 10 75,415,185 (GRCm39) missense possibly damaging 0.70
R8832:Ggt1 UTSW 10 75,410,173 (GRCm39) missense possibly damaging 0.57
R8988:Ggt1 UTSW 10 75,412,056 (GRCm39) missense probably benign 0.41
R9272:Ggt1 UTSW 10 75,421,749 (GRCm39) missense probably benign
R9295:Ggt1 UTSW 10 75,421,743 (GRCm39) missense probably benign 0.00
R9355:Ggt1 UTSW 10 75,421,716 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTGACTTTAGACTGTGCCCAG -3'
(R):5'- TTTCCCTAGACAGAGGCTAGC -3'

Sequencing Primer
(F):5'- CAGTTGGGGGCAGGGGATG -3'
(R):5'- TCCCTAGACAGAGGCTAGCAAGAG -3'
Posted On 2019-12-03