Incidental Mutation 'R6239:Ggt1'
ID 505129
Institutional Source Beutler Lab
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Name gamma-glutamyltransferase 1
Synonyms Ggtp, dwg, GGT, CD224
MMRRC Submission 044363-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6239 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75397438-75422034 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 75421515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000006508] [ENSMUST00000072217] [ENSMUST00000134503] [ENSMUST00000218807] [ENSMUST00000189972]
AlphaFold Q60928
Predicted Effect probably benign
Transcript: ENSMUST00000006508
AA Change: T513A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: T513A

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 4.9e-179 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000044101
Predicted Effect probably null
Transcript: ENSMUST00000072217
SMART Domains Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:G_glu_transpept 58 568 1.6e-164 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 benign
Transcript: ENSMUST00000134503
AA Change: T513A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: T513A

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 1.4e-184 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148447
Predicted Effect probably null
Transcript: ENSMUST00000155186
SMART Domains Protein: ENSMUSP00000123017
Gene: ENSMUSG00000006345

DomainStartEndE-ValueType
Pfam:G_glu_transpept 1 128 6.3e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219214
Predicted Effect probably null
Transcript: ENSMUST00000189991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219247
Predicted Effect probably benign
Transcript: ENSMUST00000218807
Predicted Effect probably null
Transcript: ENSMUST00000189972
SMART Domains Protein: ENSMUSP00000139459
Gene: ENSMUSG00000006344

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Meta Mutation Damage Score 0.3603 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T A 1: 78,674,182 (GRCm39) S373T probably benign Het
Aox1 G A 1: 58,344,550 (GRCm39) probably null Het
Apol7c T C 15: 77,410,631 (GRCm39) E105G probably benign Het
B4galnt2 C T 11: 95,767,065 (GRCm39) A184T probably damaging Het
Castor1 A G 11: 4,168,967 (GRCm39) T45A possibly damaging Het
Casz1 A G 4: 149,022,734 (GRCm39) Q600R probably damaging Het
Cep152 A T 2: 125,421,332 (GRCm39) S1133T probably benign Het
Cep295 T C 9: 15,233,927 (GRCm39) I2290V possibly damaging Het
Clmn A T 12: 104,747,104 (GRCm39) H814Q probably benign Het
Creb3l1 A G 2: 91,825,748 (GRCm39) C124R probably damaging Het
Cspg4 A G 9: 56,795,466 (GRCm39) D1067G probably benign Het
Cyp1a1 T A 9: 57,609,361 (GRCm39) V354E probably benign Het
Cyp2t4 A T 7: 26,856,900 (GRCm39) Q280L possibly damaging Het
Dcaf6 A T 1: 165,178,839 (GRCm39) D563E possibly damaging Het
Dennd2a A G 6: 39,465,750 (GRCm39) F607L probably damaging Het
Dennd2d T A 3: 106,402,193 (GRCm39) F288I probably damaging Het
Dnah8 C T 17: 31,029,333 (GRCm39) R4101C probably damaging Het
Dnai4 A C 4: 102,923,640 (GRCm39) N396K probably benign Het
Dnase2a G T 8: 85,635,508 (GRCm39) probably null Het
Dnmbp C T 19: 43,836,624 (GRCm39) V1235I probably benign Het
Eml6 T C 11: 29,699,275 (GRCm39) D1826G probably damaging Het
Fam186b T C 15: 99,178,315 (GRCm39) Y337C probably benign Het
Flg2 A T 3: 93,108,579 (GRCm39) E202D probably benign Het
Fus C T 7: 127,580,606 (GRCm39) R228C possibly damaging Het
Gbf1 A G 19: 46,248,135 (GRCm39) E304G probably benign Het
Gm19410 A T 8: 36,245,918 (GRCm39) D354V probably damaging Het
Hdac4 T C 1: 91,982,694 (GRCm39) D8G probably benign Het
Hhat A T 1: 192,277,395 (GRCm39) Y355N probably damaging Het
Ift140 T C 17: 25,247,946 (GRCm39) V268A probably benign Het
Il4i1 A G 7: 44,489,836 (GRCm39) R542G probably benign Het
Itga2b C T 11: 102,356,144 (GRCm39) V328I possibly damaging Het
Kmt2a T C 9: 44,731,093 (GRCm39) probably benign Het
Lrit3 A T 3: 129,593,995 (GRCm39) I194N probably damaging Het
Mast4 A G 13: 102,872,717 (GRCm39) L2025P probably benign Het
Neb T C 2: 52,164,000 (GRCm39) N1986S probably benign Het
Osbpl7 G A 11: 96,943,650 (GRCm39) probably null Het
Pabpc2 T A 18: 39,906,891 (GRCm39) L52Q probably damaging Het
Pald1 T C 10: 61,156,910 (GRCm39) S847G possibly damaging Het
Pcdh12 T C 18: 38,415,454 (GRCm39) D557G probably damaging Het
Prmt2 A T 10: 76,058,425 (GRCm39) L128* probably null Het
Ptpn3 C A 4: 57,249,981 (GRCm39) A172S probably benign Het
Ptpro A T 6: 137,357,606 (GRCm39) T366S probably benign Het
Reg4 A G 3: 98,138,600 (GRCm39) K100R probably null Het
Rims2 A T 15: 39,061,758 (GRCm39) M1L unknown Het
Sele A G 1: 163,878,377 (GRCm39) S239G probably damaging Het
Slc11a1 G A 1: 74,423,274 (GRCm39) R375Q possibly damaging Het
Slc13a3 T C 2: 165,248,617 (GRCm39) T554A unknown Het
Snw1 A T 12: 87,511,398 (GRCm39) N84K probably damaging Het
Stpg4 T C 17: 87,718,667 (GRCm39) Y171C probably benign Het
Styxl2 A T 1: 165,926,388 (GRCm39) S1075T probably damaging Het
Tmem222 T A 4: 132,995,606 (GRCm39) H147L probably damaging Het
Tmprss11f G T 5: 86,681,636 (GRCm39) R206S probably damaging Het
Trappc11 G A 8: 47,982,529 (GRCm39) T70M possibly damaging Het
Trpv4 G A 5: 114,782,887 (GRCm39) T25I probably benign Het
Ttr T C 18: 20,806,692 (GRCm39) V114A possibly damaging Het
Umod C T 7: 119,076,520 (GRCm39) C82Y probably damaging Het
Upk3a T A 15: 84,905,515 (GRCm39) M208K probably damaging Het
Vmn1r59 G A 7: 5,457,539 (GRCm39) P74S probably damaging Het
Vwa3a A T 7: 120,393,457 (GRCm39) R851S probably benign Het
Zfp236 G T 18: 82,675,229 (GRCm39) T421K possibly damaging Het
Zswim9 C A 7: 12,995,257 (GRCm39) G300* 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
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
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'- ACTGGTATGTGCCTTTTGCC -3'
(R):5'- ATGGTGGTGCCGAATCTTCAG -3'

Sequencing Primer
(F):5'- GTATGTGCCTTTTGCCTGCCC -3'
(R):5'- GAATCTTCAGGCCTGCAGTCAC -3'
Posted On 2018-02-28