Incidental Mutation 'R7702:Ggt1'
ID 594070
Institutional Source Beutler Lab
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Name gamma-glutamyltransferase 1
Synonyms Ggtp, dwg, GGT, CD224
MMRRC Submission 045763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7702 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75397438-75422034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75412116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 120 (N120S)
Ref Sequence ENSEMBL: ENSMUSP00000006508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006508] [ENSMUST00000124259] [ENSMUST00000125770] [ENSMUST00000128886] [ENSMUST00000129232] [ENSMUST00000131565] [ENSMUST00000134503] [ENSMUST00000139459] [ENSMUST00000140219] [ENSMUST00000141062] [ENSMUST00000143226] [ENSMUST00000143792] [ENSMUST00000145079] [ENSMUST00000145928] [ENSMUST00000151212] [ENSMUST00000152657]
AlphaFold Q60928
Predicted Effect probably benign
Transcript: ENSMUST00000006508
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 4.9e-179 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124259
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 235 1.6e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125770
SMART Domains Protein: ENSMUSP00000117968
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 88 7.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128886
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345
AA Change: N120S

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: ENSMUST00000129020
AA Change: N24S

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118825
Gene: ENSMUSG00000006345
AA Change: N24S

DomainStartEndE-ValueType
Pfam:G_glu_transpept 1 263 3.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129232
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 189 9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131565
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345
AA Change: N120S

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: ENSMUST00000134503
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 1.4e-184 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139459
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 243 1.7e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140219
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345
AA Change: N120S

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: ENSMUST00000141062
Predicted Effect probably benign
Transcript: ENSMUST00000143226
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 190 5.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143792
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 237 2.2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145079
SMART Domains Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345

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: ENSMUST00000145928
AA Change: N120S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 210 6.5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151212
SMART Domains Protein: ENSMUSP00000119387
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
PDB:4GDX|A 23 60 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000152657
SMART Domains Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 110 2.1e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,167,278 (GRCm39) probably null Het
AU040320 T A 4: 126,708,166 (GRCm39) S261T probably benign Het
Banp T A 8: 122,705,326 (GRCm39) C65* probably null Het
Bloc1s5 T C 13: 38,787,850 (GRCm39) D178G probably benign Het
Cacna1c A G 6: 118,575,727 (GRCm39) F1941L Het
Ccdc121rt3 T C 5: 112,503,063 (GRCm39) K214E probably benign Het
Cd48 A G 1: 171,523,348 (GRCm39) I64V probably damaging Het
Cela3a A G 4: 137,135,501 (GRCm39) S21P probably benign Het
Cidec A G 6: 113,411,415 (GRCm39) Y12H possibly damaging Het
Col12a1 C G 9: 79,588,803 (GRCm39) R1104T probably damaging Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cux2 T C 5: 122,006,648 (GRCm39) D874G possibly damaging Het
Dbnl C T 11: 5,748,048 (GRCm39) L298F probably benign Het
Dnah1 C A 14: 31,032,866 (GRCm39) V390F probably benign Het
Dnah17 T C 11: 118,012,304 (GRCm39) D486G possibly damaging Het
Dnah17 T C 11: 117,916,466 (GRCm39) I4236V probably benign Het
Dpp6 T A 5: 27,857,274 (GRCm39) D406E probably benign Het
Dsp C T 13: 38,359,183 (GRCm39) A318V possibly damaging Het
Duox1 T C 2: 122,160,120 (GRCm39) L745P possibly damaging Het
Ell C A 8: 70,992,364 (GRCm39) A3E possibly damaging Het
Fer1l5 T A 1: 36,459,775 (GRCm39) L1832* probably null Het
Filip1 G T 9: 79,727,931 (GRCm39) N229K probably benign Het
Flg A T 3: 93,200,089 (GRCm39) H195L unknown Het
Fndc7 G T 3: 108,770,129 (GRCm39) P685H probably damaging Het
Gm4952 A T 19: 12,604,428 (GRCm39) H280L probably benign Het
Golim4 A T 3: 75,794,091 (GRCm39) D551E probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hmbs A C 9: 44,248,147 (GRCm39) probably null Het
Ino80 T C 2: 119,273,054 (GRCm39) D474G probably benign Het
Ipo4 A C 14: 55,869,787 (GRCm39) H343Q probably damaging Het
Jade2 C T 11: 51,707,744 (GRCm39) R823H probably damaging Het
Jakmip1 C T 5: 37,274,841 (GRCm39) T453I probably damaging Het
Klk6 T C 7: 43,478,689 (GRCm39) S199P probably damaging Het
Ltn1 A T 16: 87,223,166 (GRCm39) Y105N probably damaging Het
Map3k19 G T 1: 127,756,827 (GRCm39) T394N probably damaging Het
Megf6 G A 4: 154,354,927 (GRCm39) D1445N probably benign Het
Mmp21 A G 7: 133,280,791 (GRCm39) Y60H probably damaging Het
Mylk4 C T 13: 32,904,585 (GRCm39) probably null Het
Nckipsd A T 9: 108,691,216 (GRCm39) R38* probably null Het
Nob1 G A 8: 108,139,737 (GRCm39) R341* probably null Het
Or11g25 A G 14: 50,723,751 (GRCm39) T279A possibly damaging Het
Or1e19 T A 11: 73,324,175 (GRCm39) probably benign Het
Or5ac22 A G 16: 59,134,997 (GRCm39) Y258H probably damaging Het
Pcdh1 A G 18: 38,336,569 (GRCm39) L22P unknown Het
Pebp4 T A 14: 70,297,056 (GRCm39) N198K probably benign Het
Pkp4 T C 2: 59,138,757 (GRCm39) S336P probably damaging Het
Prr5l T A 2: 101,547,442 (GRCm39) D361V probably benign Het
Ralgapa1 C G 12: 55,756,340 (GRCm39) V1086L probably damaging Het
Ralgapa1 T A 12: 55,756,341 (GRCm39) Q1085H probably damaging Het
Ryr2 T C 13: 11,705,219 (GRCm39) N2849S probably damaging Het
Slc6a18 A T 13: 73,820,915 (GRCm39) L223H probably damaging Het
Sqstm1 T G 11: 50,096,932 (GRCm39) probably null Het
Syne1 T C 10: 5,195,835 (GRCm39) E3945G probably damaging Het
Syne2 A G 12: 76,037,161 (GRCm39) Y3780C probably benign Het
Tecpr1 A G 5: 144,140,236 (GRCm39) Y840H probably damaging Het
Tmem183a T C 1: 134,288,539 (GRCm39) Q108R probably benign Het
Tmtc1 A T 6: 148,345,415 (GRCm39) C95S probably benign Het
Trappc8 C T 18: 20,958,119 (GRCm39) V1250I probably damaging Het
Tshz1 A G 18: 84,032,461 (GRCm39) V649A probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn1r123 A C 7: 20,896,302 (GRCm39) T65P probably damaging Het
Vmn2r63 A T 7: 42,577,553 (GRCm39) H328Q possibly damaging Het
Zeb1 T C 18: 5,766,802 (GRCm39) S438P 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
R7713:Ggt1 UTSW 10 75,421,508 (GRCm39) missense probably damaging 1.00
R7823:Ggt1 UTSW 10 75,410,175 (GRCm39) missense possibly damaging 0.88
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'- GCCTGTTCTTCACCATCTACAACAG -3'
(R):5'- CTCAATGCAGGGCTGAGAAG -3'

Sequencing Primer
(F):5'- GGGTGAGTGGCTCAGGCTATC -3'
(R):5'- TGAGAAGAAATAAAAGAACTGACCCC -3'
Posted On 2019-11-12