Incidental Mutation 'R7224:Ggt1'
ID 562042
Institutional Source Beutler Lab
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Name gamma-glutamyltransferase 1
Synonyms Ggtp, dwg, GGT, CD224
MMRRC Submission 045296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7224 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75397438-75422034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75410110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 14 (V14D)
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 possibly damaging
Transcript: ENSMUST00000006508
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117968
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345
AA Change: V14D

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: ENSMUST00000141062
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000143226
AA Change: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119387
Gene: ENSMUSG00000006345
AA Change: V14D

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: V14D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345
AA Change: V14D

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: 98.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,943,275 (GRCm39) T60M probably benign Het
Actn4 C T 7: 28,661,509 (GRCm39) A34T probably benign Het
Acvrl1 A G 15: 101,041,245 (GRCm39) M466V probably benign Het
Adamts7 T C 9: 90,067,868 (GRCm39) Y453H probably damaging Het
Amfr G A 8: 94,711,484 (GRCm39) P351S probably damaging Het
Ankrd26 G A 6: 118,516,688 (GRCm39) T492M probably benign Het
Anxa6 A G 11: 54,876,993 (GRCm39) F547L probably damaging Het
Ap5m1 T G 14: 49,318,384 (GRCm39) Y394D unknown Het
Atic G A 1: 71,610,014 (GRCm39) V342I probably benign Het
Atl1 C A 12: 70,002,127 (GRCm39) T362N probably benign Het
Atp10a A T 7: 58,447,219 (GRCm39) M654L probably benign Het
B3gnt5 A T 16: 19,588,503 (GRCm39) M241L probably benign Het
Bbs7 A G 3: 36,659,877 (GRCm39) V186A possibly damaging Het
Brme1 A G 8: 84,898,842 (GRCm39) T577A probably benign Het
C8b T C 4: 104,637,795 (GRCm39) L89P probably damaging Het
Capn7 G T 14: 31,092,678 (GRCm39) E742* probably null Het
Ccdc162 G A 10: 41,437,187 (GRCm39) R1741C probably damaging Het
Cdhr17 T C 5: 17,041,592 (GRCm39) V615A possibly damaging Het
Chsy3 T A 18: 59,542,047 (GRCm39) L395H probably damaging Het
Cnot9 A G 1: 74,556,388 (GRCm39) T62A probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp2d12 T A 15: 82,441,849 (GRCm39) probably null Het
Dnah7a A G 1: 53,436,420 (GRCm39) V3974A probably benign Het
Dync1h1 G A 12: 110,584,196 (GRCm39) G533D possibly damaging Het
Eddm13 T G 7: 6,271,801 (GRCm39) M77R probably benign Het
Elfn1 A G 5: 139,958,228 (GRCm39) S411G probably benign Het
Enpp3 T C 10: 24,652,782 (GRCm39) D725G possibly damaging Het
Fmnl1 T C 11: 103,073,595 (GRCm39) probably null Het
Fndc8 T C 11: 82,783,151 (GRCm39) M44T probably benign Het
Gcgr A T 11: 120,425,538 (GRCm39) probably benign Het
Gigyf2 A G 1: 87,331,447 (GRCm39) I198M unknown Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm6034 T A 17: 36,367,331 (GRCm39) S59T unknown Het
Gm6408 G A 5: 146,421,180 (GRCm39) V270I probably benign Het
Gpr20 A T 15: 73,567,981 (GRCm39) I136N probably damaging Het
Ide T C 19: 37,268,160 (GRCm39) E565G Het
Igsf9 T C 1: 172,322,349 (GRCm39) S515P probably damaging Het
Kbtbd12 G A 6: 88,590,965 (GRCm39) R416* probably null Het
Kcnd3 A T 3: 105,576,400 (GRCm39) I615F probably damaging Het
Kcnk7 A T 19: 5,756,805 (GRCm39) M265L probably benign Het
Klhdc1 G A 12: 69,309,923 (GRCm39) S275N probably damaging Het
Ldc1 C G 4: 130,112,992 (GRCm39) A135P probably damaging Het
Lrba A C 3: 86,302,553 (GRCm39) N1871T probably damaging Het
Lrrk1 A G 7: 65,982,134 (GRCm39) V169A probably damaging Het
Magi1 A G 6: 93,660,070 (GRCm39) I1175T probably benign Het
Man1a2 T C 3: 100,489,369 (GRCm39) T537A possibly damaging Het
Mrpl17 T C 7: 105,459,209 (GRCm39) N129S probably damaging Het
Mup5 G A 4: 61,750,622 (GRCm39) R174C probably damaging Het
Ndufaf1 G A 2: 119,488,877 (GRCm39) R216C probably damaging Het
Neb T C 2: 52,224,671 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or52m2 A T 7: 102,263,974 (GRCm39) M74K probably damaging Het
Or5a1 T C 19: 12,097,912 (GRCm39) T55A probably benign Het
Or8b12b G A 9: 37,684,711 (GRCm39) G252D possibly damaging Het
Osbpl8 C T 10: 111,110,872 (GRCm39) P458L possibly damaging Het
Pcdh20 T C 14: 88,706,511 (GRCm39) E263G possibly damaging Het
Pkd1l1 A G 11: 8,895,241 (GRCm39) L623P Het
Plxdc1 T C 11: 97,823,153 (GRCm39) T363A possibly damaging Het
Pole3 T C 4: 62,442,287 (GRCm39) D111G unknown Het
R3hdm2 T A 10: 127,294,022 (GRCm39) L172Q probably damaging Het
Rbm33 T C 5: 28,599,322 (GRCm39) V90A Het
Rcbtb1 C G 14: 59,465,828 (GRCm39) I390M probably damaging Het
Romo1 G A 2: 155,986,295 (GRCm39) probably benign Het
Sars1 A G 3: 108,335,519 (GRCm39) Y410H probably damaging Het
Sesn2 T C 4: 132,224,724 (GRCm39) T327A probably benign Het
Slc30a5 A G 13: 100,945,762 (GRCm39) V530A probably damaging Het
Slc30a9 G A 5: 67,473,044 (GRCm39) E43K probably benign Het
Slc38a2 A C 15: 96,589,240 (GRCm39) L418W probably damaging Het
Snx14 T C 9: 88,276,614 (GRCm39) E557G possibly damaging Het
Spata33 T A 8: 123,948,737 (GRCm39) I123K probably damaging Het
Tdrd3 A T 14: 87,714,839 (GRCm39) H170L probably damaging Het
Trpm1 A G 7: 63,868,854 (GRCm39) probably null Het
Tsr3 A T 17: 25,461,569 (GRCm39) E302D probably benign Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Usp2 C T 9: 43,987,266 (GRCm39) T188M possibly damaging Het
Usp44 A G 10: 93,681,855 (GRCm39) I102V probably benign Het
Wasf1 A G 10: 40,802,546 (GRCm39) N67S probably benign Het
Zfp445 T C 9: 122,681,208 (GRCm39) N911S probably benign Het
Zfp467 A G 6: 48,421,903 (GRCm39) probably null 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
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
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'- TAGGATCCAGAGCTTTTGGTAGAAG -3'
(R):5'- TGAGTTATGCCCGAGCTCAC -3'

Sequencing Primer
(F):5'- TCCAGAGCTTTTGGTAGAAGGAATG -3'
(R):5'- CGAGCTCACTGGCCTTC -3'
Posted On 2019-06-26