Incidental Mutation 'R7570:Ggt1'
ID 585735
Institutional Source Beutler Lab
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Name gamma-glutamyltransferase 1
Synonyms Ggtp, CD224, GGT, dwg
MMRRC Submission 045631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R7570 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75561604-75586200 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75585594 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 484 (I484F)
Ref Sequence ENSEMBL: ENSMUSP00000006508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006508] [ENSMUST00000072217] [ENSMUST00000134503] [ENSMUST00000189972] [ENSMUST00000218807]
AlphaFold Q60928
Predicted Effect probably damaging
Transcript: ENSMUST00000006508
AA Change: I484F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: I484F

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

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

Pfam:G_glu_transpept 1 263 3.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134503
AA Change: I484F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: I484F

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

Pfam:G_glu_transpept 1 128 6.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189972
SMART Domains Protein: ENSMUSP00000139459
Gene: ENSMUSG00000006344

signal peptide 1 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189991
Predicted Effect probably benign
Transcript: ENSMUST00000218807
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (104/106)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,934,610 (GRCm38) T613I probably benign Het
9130019O22Rik T A 7: 127,385,283 (GRCm38) S216C probably benign Het
Ajuba T C 14: 54,576,402 (GRCm38) E288G probably damaging Het
Ankrd12 C T 17: 65,985,360 (GRCm38) R1026K probably benign Het
Apol7b T C 15: 77,423,474 (GRCm38) T274A probably benign Het
Arid4a A T 12: 71,063,142 (GRCm38) R86* probably null Het
Asnsd1 C T 1: 53,348,258 (GRCm38) G70D probably damaging Het
Atg4c T A 4: 99,228,560 (GRCm38) V313D possibly damaging Het
Atp13a5 A C 16: 29,266,963 (GRCm38) C885G probably damaging Het
Bpifb9a A T 2: 154,262,263 (GRCm38) I209F possibly damaging Het
Bsn T C 9: 108,113,543 (GRCm38) D1670G probably damaging Het
Cct8 T A 16: 87,491,322 (GRCm38) I121F probably benign Het
Cd209a T G 8: 3,744,151 (GRCm38) D217A probably damaging Het
Cdk19 C T 10: 40,477,958 (GRCm38) S456L possibly damaging Het
Chd9 C T 8: 90,994,580 (GRCm38) H999Y unknown Het
Col5a1 G A 2: 27,951,383 (GRCm38) V339M unknown Het
Cr2 G A 1: 195,169,340 (GRCm38) R115* probably null Het
Cyb561 A T 11: 105,937,644 (GRCm38) F62I probably damaging Het
Cyp2c38 A T 19: 39,404,743 (GRCm38) N293K possibly damaging Het
Cyp2c69 A T 19: 39,859,898 (GRCm38) D293E probably damaging Het
Dcbld2 T A 16: 58,424,569 (GRCm38) C69S possibly damaging Het
Dcdc2a T C 13: 25,119,373 (GRCm38) S296P probably benign Het
Dmxl1 T A 18: 49,893,957 (GRCm38) I2044K possibly damaging Het
Dnah5 A G 15: 28,346,952 (GRCm38) D2527G probably damaging Het
Dnah6 T C 6: 73,149,430 (GRCm38) T1305A probably benign Het
Dnajc9 A G 14: 20,388,644 (GRCm38) V47A probably benign Het
Dnmt3b A G 2: 153,676,699 (GRCm38) Y594C probably damaging Het
Dph7 A G 2: 24,965,630 (GRCm38) D147G probably damaging Het
Drap1 T C 19: 5,423,352 (GRCm38) H164R possibly damaging Het
Dsg3 T A 18: 20,527,780 (GRCm38) V392E possibly damaging Het
Dxo A G 17: 34,837,640 (GRCm38) D81G probably benign Het
E230025N22Rik G T 18: 36,695,592 (GRCm38) T11K probably benign Het
Esyt1 A G 10: 128,518,932 (GRCm38) V533A possibly damaging Het
Etv3 T A 3: 87,536,031 (GRCm38) C307* probably null Het
Fam114a1 T A 5: 65,030,059 (GRCm38) probably null Het
Fam208b A G 13: 3,573,621 (GRCm38) Y2110H probably damaging Het
Fam3c T A 6: 22,326,405 (GRCm38) probably benign Het
Fbn1 G T 2: 125,397,852 (GRCm38) T305K probably benign Het
Gm10639 A T 9: 78,304,469 (GRCm38) D171V possibly damaging Het
Gpatch1 T C 7: 35,293,812 (GRCm38) D536G probably damaging Het
Gpx4 T C 10: 80,055,041 (GRCm38) I189T probably damaging Het
Gsr T A 8: 33,669,165 (GRCm38) C85S probably damaging Het
Havcr1 T A 11: 46,770,542 (GRCm38) probably null Het
Heatr4 T C 12: 83,979,644 (GRCm38) T280A probably benign Het
Hmcn2 A T 2: 31,423,911 (GRCm38) E3532D probably benign Het
Hnrnpc T C 14: 52,075,099 (GRCm38) N308S possibly damaging Het
Ighv8-9 A G 12: 115,468,738 (GRCm38) V13A probably benign Het
Itgb2l A T 16: 96,426,239 (GRCm38) F535I probably benign Het
Kdm5a T G 6: 120,427,842 (GRCm38) D1348E probably damaging Het
Kndc1 CT C 7: 139,923,775 (GRCm38) probably null Het
Ky A G 9: 102,542,329 (GRCm38) I512V probably benign Het
Lamc1 A T 1: 153,243,275 (GRCm38) F866Y possibly damaging Het
Lbx1 C A 19: 45,235,248 (GRCm38) probably benign Het
Magel2 A G 7: 62,378,910 (GRCm38) T521A possibly damaging Het
Mgam A T 6: 40,746,433 (GRCm38) I491L probably benign Het
Mitd1 T C 1: 37,890,192 (GRCm38) E40G probably damaging Het
Mpzl3 A G 9: 45,070,687 (GRCm38) T218A probably benign Het
Mrpl42 A G 10: 95,480,965 (GRCm38) S77P probably benign Het
Mup5 C T 4: 61,834,674 (GRCm38) W37* probably null Het
Myh14 T C 7: 44,632,426 (GRCm38) I803V probably benign Het
Ncor2 T A 5: 125,030,089 (GRCm38) T744S Het
Ndufv3 A G 17: 31,527,622 (GRCm38) D162G probably damaging Het
Nostrin A G 2: 69,175,806 (GRCm38) E278G probably damaging Het
Nrxn1 T G 17: 90,162,379 (GRCm38) E1288A probably benign Het
Olfr1205 A G 2: 88,831,128 (GRCm38) N4D possibly damaging Het
Olfr623 C A 7: 103,660,881 (GRCm38) R123L probably damaging Het
Olfr648 T A 7: 104,179,748 (GRCm38) Y220F probably damaging Het
Olfr972 A T 9: 39,873,455 (GRCm38) Y60F possibly damaging Het
Patj T A 4: 98,424,500 (GRCm38) probably null Het
Pcm1 T G 8: 41,267,344 (GRCm38) I314R possibly damaging Het
Pcsk6 A G 7: 66,033,898 (GRCm38) T754A probably benign Het
Pde2a A T 7: 101,502,834 (GRCm38) N326I probably benign Het
Plekhg4 T C 8: 105,378,684 (GRCm38) S594P possibly damaging Het
Plekhm3 T C 1: 64,937,906 (GRCm38) D135G probably damaging Het
Plin4 A T 17: 56,106,776 (GRCm38) M283K probably benign Het
Ppfia3 T C 7: 45,340,748 (GRCm38) probably null Het
Prdm9 T C 17: 15,555,652 (GRCm38) N179S probably benign Het
Prrt3 T C 6: 113,494,488 (GRCm38) S908G probably damaging Het
Psg22 C A 7: 18,722,735 (GRCm38) S181Y possibly damaging Het
Rcor3 C A 1: 192,137,876 (GRCm38) G8V probably damaging Het
Rp1l1 T A 14: 64,031,574 (GRCm38) C1536* probably null Het
Rpp25l T C 4: 41,712,529 (GRCm38) H82R probably damaging Het
Rps3a1 T A 3: 86,139,089 (GRCm38) M172L probably benign Het
Rtbdn T C 8: 84,952,927 (GRCm38) L110P probably damaging Het
Ryr1 T A 7: 29,078,585 (GRCm38) Q2169L probably damaging Het
Scn4a A T 11: 106,320,473 (GRCm38) C1573S possibly damaging Het
Sec16b A T 1: 157,531,395 (GRCm38) probably null Het
Serpina1a A T 12: 103,853,837 (GRCm38) D383E possibly damaging Het
Sh3gl3 T C 7: 82,285,077 (GRCm38) M262T probably benign Het
Sos2 G A 12: 69,590,880 (GRCm38) T1052M probably damaging Het
Spag16 G A 1: 69,996,841 (GRCm38) V343I probably benign Het
Spocd1 T G 4: 129,930,164 (GRCm38) D251E Het
Stc2 G T 11: 31,367,798 (GRCm38) N74K probably damaging Het
Thbs3 C T 3: 89,219,052 (GRCm38) Q227* probably null Het
Tmem92 A C 11: 94,778,990 (GRCm38) I105R probably benign Het
Tmod1 T A 4: 46,083,632 (GRCm38) N20K probably benign Het
Tns1 T C 1: 73,953,479 (GRCm38) D53G probably damaging Het
Tspan33 T A 6: 29,717,338 (GRCm38) L246Q probably damaging Het
Ttc16 A G 2: 32,768,968 (GRCm38) L392P probably damaging Het
Uggt1 T A 1: 36,185,838 (GRCm38) T572S probably benign Het
Usp17la A T 7: 104,860,397 (GRCm38) T70S probably damaging Het
Usp31 C T 7: 121,674,963 (GRCm38) R370H probably damaging Het
Wdr83 C T 8: 85,079,834 (GRCm38) V112M probably damaging Het
Zbtb25 T A 12: 76,369,592 (GRCm38) probably benign Het
Zfp110 T A 7: 12,849,340 (GRCm38) N638K possibly damaging Het
Zfp820 T C 17: 21,819,013 (GRCm38) T445A probably benign Het
Other mutations in Ggt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Ggt1 APN 10 75,584,863 (GRCm38) missense probably benign 0.15
IGL01593:Ggt1 APN 10 75,585,287 (GRCm38) critical splice donor site probably null
IGL02713:Ggt1 APN 10 75,574,344 (GRCm38) missense probably damaging 1.00
IGL03276:Ggt1 APN 10 75,580,497 (GRCm38) unclassified probably benign
chained UTSW 10 75,585,957 (GRCm38) missense probably damaging 0.99
religion UTSW 10 75,585,456 (GRCm38) missense possibly damaging 0.89
rigidity UTSW 10 75,579,351 (GRCm38) missense possibly damaging 0.70
PIT4498001:Ggt1 UTSW 10 75,578,855 (GRCm38) missense possibly damaging 0.95
R0373:Ggt1 UTSW 10 75,579,270 (GRCm38) missense probably benign 0.11
R0420:Ggt1 UTSW 10 75,576,213 (GRCm38) splice site probably benign
R0505:Ggt1 UTSW 10 75,585,957 (GRCm38) missense probably damaging 0.99
R0630:Ggt1 UTSW 10 75,585,502 (GRCm38) splice site probably null
R1837:Ggt1 UTSW 10 75,579,294 (GRCm38) missense probably benign 0.00
R2655:Ggt1 UTSW 10 75,581,385 (GRCm38) nonsense probably null
R2656:Ggt1 UTSW 10 75,581,385 (GRCm38) nonsense probably null
R2910:Ggt1 UTSW 10 75,580,596 (GRCm38) missense probably benign 0.09
R3840:Ggt1 UTSW 10 75,581,385 (GRCm38) nonsense probably null
R3841:Ggt1 UTSW 10 75,581,385 (GRCm38) nonsense probably null
R4744:Ggt1 UTSW 10 75,585,899 (GRCm38) missense probably benign 0.00
R5254:Ggt1 UTSW 10 75,579,198 (GRCm38) splice site probably null
R5323:Ggt1 UTSW 10 75,585,661 (GRCm38) critical splice acceptor site probably null
R5326:Ggt1 UTSW 10 75,585,706 (GRCm38) critical splice donor site probably null
R5512:Ggt1 UTSW 10 75,584,884 (GRCm38) missense probably damaging 0.99
R5579:Ggt1 UTSW 10 75,585,948 (GRCm38) missense probably damaging 1.00
R5707:Ggt1 UTSW 10 75,585,238 (GRCm38) missense probably benign 0.01
R5961:Ggt1 UTSW 10 75,585,902 (GRCm38) splice site probably null
R6159:Ggt1 UTSW 10 75,584,965 (GRCm38) missense probably damaging 1.00
R6239:Ggt1 UTSW 10 75,585,681 (GRCm38) splice site probably null
R7224:Ggt1 UTSW 10 75,574,276 (GRCm38) missense possibly damaging 0.86
R7649:Ggt1 UTSW 10 75,585,456 (GRCm38) missense possibly damaging 0.89
R7702:Ggt1 UTSW 10 75,576,282 (GRCm38) missense probably benign 0.00
R7713:Ggt1 UTSW 10 75,585,674 (GRCm38) missense probably damaging 1.00
R7823:Ggt1 UTSW 10 75,574,341 (GRCm38) missense possibly damaging 0.88
R8070:Ggt1 UTSW 10 75,578,899 (GRCm38) missense probably damaging 0.98
R8185:Ggt1 UTSW 10 75,585,206 (GRCm38) missense possibly damaging 0.83
R8260:Ggt1 UTSW 10 75,581,411 (GRCm38) missense probably damaging 1.00
R8441:Ggt1 UTSW 10 75,579,351 (GRCm38) missense possibly damaging 0.70
R8832:Ggt1 UTSW 10 75,574,339 (GRCm38) missense possibly damaging 0.57
R8988:Ggt1 UTSW 10 75,576,222 (GRCm38) missense probably benign 0.41
R9272:Ggt1 UTSW 10 75,585,915 (GRCm38) missense probably benign
R9295:Ggt1 UTSW 10 75,585,909 (GRCm38) missense probably benign 0.00
R9355:Ggt1 UTSW 10 75,585,882 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-17