Incidental Mutation 'R8070:Ggt1'
ID 620244
Institutional Source Beutler Lab
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Name gamma-glutamyltransferase 1
Synonyms Ggtp, dwg, GGT, CD224
MMRRC Submission 067505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R8070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 75397438-75422034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75414733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 184 (I184F)
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 damaging
Transcript: ENSMUST00000006508
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: I184F

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 4.9e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124259
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: I184F

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
SMART Domains Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 126 2.8e-26 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118825
Gene: ENSMUSG00000006345
AA Change: I88F

DomainStartEndE-ValueType
Pfam:G_glu_transpept 1 263 3.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129232
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: I184F

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
SMART Domains Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 126 2.8e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134503
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: I184F

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 1.4e-184 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139459
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: I184F

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
SMART Domains Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345

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 damaging
Transcript: ENSMUST00000143226
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: I184F

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 190 5.9e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143792
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: I184F

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 damaging
Transcript: ENSMUST00000145928
AA Change: I184F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: I184F

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
Predicted Effect probably benign
Transcript: ENSMUST00000155186
SMART Domains Protein: ENSMUSP00000123017
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
Pfam:G_glu_transpept 1 128 6.3e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,510 (GRCm39) E82G probably benign Het
9830107B12Rik A G 17: 48,452,681 (GRCm39) F86S probably damaging Het
Aamdc A T 7: 97,224,855 (GRCm39) Y2* probably null Het
Acta1 T A 8: 124,620,360 (GRCm39) D26V possibly damaging Het
Adra1d A C 2: 131,403,502 (GRCm39) L196R probably damaging Het
Agbl2 G A 2: 90,621,909 (GRCm39) C132Y probably benign Het
Amd1 A G 10: 40,170,226 (GRCm39) V92A probably benign Het
Arid4b T A 13: 14,310,844 (GRCm39) I149K probably benign Het
Atg7 A G 6: 114,674,041 (GRCm39) M312V probably benign Het
Bap1 T A 14: 30,978,643 (GRCm39) V381E probably damaging Het
Cbfa2t3 C T 8: 123,369,720 (GRCm39) V207I possibly damaging Het
Cdh24 T C 14: 54,870,030 (GRCm39) Q629R probably benign Het
Cdhr2 G T 13: 54,867,606 (GRCm39) V479L probably benign Het
Chd2 A G 7: 73,101,506 (GRCm39) S1407P probably benign Het
Clstn2 A G 9: 97,681,523 (GRCm39) V39A possibly damaging Het
Cwh43 T A 5: 73,578,806 (GRCm39) M357K possibly damaging Het
Dcdc2a T A 13: 25,386,180 (GRCm39) D351E probably benign Het
Dennd6b T C 15: 89,069,576 (GRCm39) I517V probably benign Het
Dnah17 T C 11: 117,915,497 (GRCm39) E4374G probably damaging Het
Emsy A G 7: 98,275,922 (GRCm39) S336P possibly damaging Het
Enoph1 A T 5: 100,208,841 (GRCm39) E65D probably benign Het
Fam83f T A 15: 80,556,281 (GRCm39) L55Q probably damaging Het
Fry T C 5: 150,401,472 (GRCm39) F379L Het
Fscb A T 12: 64,521,382 (GRCm39) M28K probably benign Het
Gas7 G A 11: 67,574,260 (GRCm39) V412M probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcn1 T A 5: 115,727,057 (GRCm39) V638E probably benign Het
Gigyf2 A G 1: 87,368,629 (GRCm39) N1103S probably benign Het
Gm5592 G A 7: 40,935,887 (GRCm39) A130T possibly damaging Het
Gys2 T C 6: 142,394,230 (GRCm39) probably null Het
Hmcn1 C A 1: 150,525,743 (GRCm39) E3327* probably null Het
Ighv1-36 C T 12: 114,843,656 (GRCm39) G68E probably damaging Het
Igkv6-32 G A 6: 70,051,089 (GRCm39) T89M probably damaging Het
Ipo7 A G 7: 109,652,014 (GRCm39) D931G probably benign Het
Jakmip1 A G 5: 37,330,631 (GRCm39) E437G probably benign Het
Lingo3 C T 10: 80,671,955 (GRCm39) probably benign Het
Lnpep A G 17: 17,758,900 (GRCm39) S815P probably damaging Het
Ly6a T C 15: 74,869,449 (GRCm39) D2G probably damaging Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mapk8ip3 A T 17: 25,120,078 (GRCm39) probably null Het
Mecom T C 3: 30,033,987 (GRCm39) E239G probably damaging Het
Mug1 T C 6: 121,852,838 (GRCm39) V889A probably benign Het
Myo18b T A 5: 112,938,986 (GRCm39) N1675I probably benign Het
Ndrg4 T C 8: 96,426,756 (GRCm39) F50L possibly damaging Het
Ndst4 A G 3: 125,508,293 (GRCm39) Y286C probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Olfm3 A G 3: 114,895,604 (GRCm39) D195G probably damaging Het
Or2y14 A T 11: 49,404,941 (GRCm39) T159S probably damaging Het
Or4p21 G T 2: 88,277,003 (GRCm39) T93K probably benign Het
Pds5a A G 5: 65,809,741 (GRCm39) L407P possibly damaging Het
Pgm2 A G 5: 64,269,425 (GRCm39) N504S probably benign Het
Plce1 A G 19: 38,690,283 (GRCm39) M656V probably damaging Het
Pou6f2 T C 13: 18,414,209 (GRCm39) T189A unknown Het
Ppp1r12b T C 1: 134,803,807 (GRCm39) S451G probably benign Het
Prox1 T G 1: 189,893,107 (GRCm39) N446T probably damaging Het
Ralgapa2 T A 2: 146,195,199 (GRCm39) R1195S probably damaging Het
Rere A G 4: 150,701,832 (GRCm39) D37G probably damaging Het
Tfip11 T A 5: 112,482,796 (GRCm39) M560K possibly damaging Het
Thop1 T C 10: 80,915,320 (GRCm39) V260A probably damaging Het
Tle6 A G 10: 81,434,476 (GRCm39) M41T possibly damaging Het
Trav13d-4 T C 14: 53,995,249 (GRCm39) S68P possibly damaging Het
Trim24 A G 6: 37,934,661 (GRCm39) N826S probably damaging Het
Tuba3a T C 6: 125,255,433 (GRCm39) E414G probably damaging Het
Vmn2r78 A G 7: 86,571,695 (GRCm39) I502V probably benign Het
Vmn2r79 A T 7: 86,651,336 (GRCm39) Y245F probably benign 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
R7823:Ggt1 UTSW 10 75,410,175 (GRCm39) missense possibly damaging 0.88
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'- TCCTAGGTGGCCTTTCAGTG -3'
(R):5'- AACACGGGTGGAATCTGTC -3'

Sequencing Primer
(F):5'- TGGCTGTCCCTGGTGAAATCC -3'
(R):5'- GGGTTCCCAGTGTCCCATC -3'
Posted On 2020-01-23