Incidental Mutation 'IGL02713:Ggt1'
ID304643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Namegamma-glutamyltransferase 1
SynonymsGgtp, CD224, GGT, dwg
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.457) question?
Stock #IGL02713
Quality Score
Status
Chromosome10
Chromosomal Location75561604-75586200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75574344 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 37 (Y37H)
Ref Sequence ENSEMBL: ENSMUSP00000115818 (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]
Predicted Effect probably damaging
Transcript: ENSMUST00000006508
AA Change: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 235 1.6e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125770
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117968
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 88 7.9e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128886
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345
AA Change: Y37H

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 probably damaging
Transcript: ENSMUST00000129232
AA Change: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 189 9e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131565
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 243 1.7e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140219
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 237 2.2e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145079
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345
AA Change: Y37H

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: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 210 6.5e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148447
Predicted Effect unknown
Transcript: ENSMUST00000151212
AA Change: Y37H
SMART Domains Protein: ENSMUSP00000119387
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
PDB:4GDX|A 23 60 3e-12 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000152657
AA Change: Y37H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 110 2.1e-22 PFAM
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C A 1: 37,624,137 K893N possibly damaging Het
Acan A G 7: 79,100,244 T1588A possibly damaging Het
Apeh A T 9: 108,085,672 L700Q probably damaging Het
Arid1b T C 17: 5,343,011 I2272T probably damaging Het
Best3 T G 10: 117,024,529 F565V probably benign Het
Birc6 A G 17: 74,579,324 N521S probably benign Het
Cd209f T A 8: 4,103,732 R191S probably benign Het
Clec4e A T 6: 123,286,304 Y63* probably null Het
Cyp26c1 C T 19: 37,693,219 T490M probably damaging Het
Cyp2b9 T A 7: 26,173,520 H29Q probably benign Het
Cyp2d10 A C 15: 82,406,082 probably benign Het
Dgat1 C A 15: 76,503,534 R291L probably damaging Het
Dyrk1a C A 16: 94,685,345 probably benign Het
Esp4 T C 17: 40,602,406 F55L probably benign Het
Fam227a G A 15: 79,636,796 probably benign Het
Grsf1 A T 5: 88,672,730 I64K probably damaging Het
Itga6 C T 2: 71,816,713 T89I possibly damaging Het
Jph2 T C 2: 163,375,917 T280A probably damaging Het
Lipm A G 19: 34,101,170 M1V probably null Het
Nbeal1 C T 1: 60,235,237 A513V possibly damaging Het
Olfr1491 A T 19: 13,705,189 I121F possibly damaging Het
Olfr514 A T 7: 108,825,594 M135K probably damaging Het
Olfr518 G A 7: 108,880,853 T251I probably damaging Het
Olfr61 A T 7: 140,637,916 I72F probably damaging Het
Olfr888 C T 9: 38,109,327 P214S probably damaging Het
Olfr995 T A 2: 85,438,637 I174F probably damaging Het
Orc6 A G 8: 85,307,586 E146G probably benign Het
Patl2 A G 2: 122,125,847 S179P probably benign Het
Pdzd8 C A 19: 59,345,458 G44C probably damaging Het
Phox2b A G 5: 67,096,595 probably benign Het
Ppp4r3b T G 11: 29,188,445 H264Q probably damaging Het
Ptprk T C 10: 28,592,811 I1409T possibly damaging Het
Pum1 T A 4: 130,766,012 I842N probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sgca T A 11: 94,971,305 N174Y probably damaging Het
Slc7a14 A T 3: 31,257,763 L36Q probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stard13 G A 5: 151,042,186 Q935* probably null Het
Suds3 C T 5: 117,094,905 probably null Het
Sv2b A T 7: 75,124,163 L520Q possibly damaging Het
Tmem26 T C 10: 68,751,295 F191S probably damaging Het
Other mutations in Ggt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Ggt1 APN 10 75584863 missense probably benign 0.15
IGL01593:Ggt1 APN 10 75585287 critical splice donor site probably null
IGL03276:Ggt1 APN 10 75580497 unclassified probably benign
R0373:Ggt1 UTSW 10 75579270 missense probably benign 0.11
R0420:Ggt1 UTSW 10 75576213 splice site probably benign
R0505:Ggt1 UTSW 10 75585957 missense probably damaging 0.99
R0630:Ggt1 UTSW 10 75585502 splice site probably null
R1837:Ggt1 UTSW 10 75579294 missense probably benign 0.00
R2655:Ggt1 UTSW 10 75581385 nonsense probably null
R2656:Ggt1 UTSW 10 75581385 nonsense probably null
R2910:Ggt1 UTSW 10 75580596 missense probably benign 0.09
R3840:Ggt1 UTSW 10 75581385 nonsense probably null
R3841:Ggt1 UTSW 10 75581385 nonsense probably null
R4744:Ggt1 UTSW 10 75585899 missense probably benign 0.00
R5254:Ggt1 UTSW 10 75579198 unclassified probably null
R5323:Ggt1 UTSW 10 75585661 critical splice acceptor site probably null
R5326:Ggt1 UTSW 10 75585706 critical splice donor site probably null
R5512:Ggt1 UTSW 10 75584884 missense probably damaging 0.99
R5579:Ggt1 UTSW 10 75585948 missense probably damaging 1.00
R5707:Ggt1 UTSW 10 75585238 missense probably benign 0.01
R5961:Ggt1 UTSW 10 75585902 unclassified probably null
R6159:Ggt1 UTSW 10 75584965 missense probably damaging 1.00
R6239:Ggt1 UTSW 10 75585681 unclassified probably null
Posted On2015-04-16