Incidental Mutation 'R8988:Ggt1'
ID 684236
Institutional Source Beutler Lab
Gene Symbol Ggt1
Ensembl Gene ENSMUSG00000006345
Gene Name gamma-glutamyltransferase 1
Synonyms Ggtp, dwg, GGT, CD224
MMRRC Submission 068820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R8988 (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 G at 75412056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 100 (V100G)
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 benign
Transcript: ENSMUST00000006508
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: V100G

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 4.9e-179 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124259
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122616
Gene: ENSMUSG00000006345
AA Change: V100G

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
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118261
Gene: ENSMUSG00000006345
AA Change: V100G

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: V4G

DomainStartEndE-ValueType
Pfam:G_glu_transpept 1 263 3.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129232
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115118
Gene: ENSMUSG00000006345
AA Change: V100G

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
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119844
Gene: ENSMUSG00000006345
AA Change: V100G

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: ENSMUST00000134503
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: V100G

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 563 1.4e-184 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139459
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121774
Gene: ENSMUSG00000006345
AA Change: V100G

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
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118870
Gene: ENSMUSG00000006345
AA Change: V100G

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 benign
Transcript: ENSMUST00000143226
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115115
Gene: ENSMUSG00000006345
AA Change: V100G

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:G_glu_transpept 54 190 5.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143792
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117851
Gene: ENSMUSG00000006345
AA Change: V100G

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
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115483
Gene: ENSMUSG00000006345
AA Change: V100G

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: ENSMUST00000145928
AA Change: V100G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118852
Gene: ENSMUSG00000006345
AA Change: V100G

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
SMART Domains Protein: ENSMUSP00000115818
Gene: ENSMUSG00000006345
AA Change: V100G

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: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (81/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,489,251 (GRCm39) T291I probably benign Het
Aox1 A C 1: 58,088,625 (GRCm39) D137A possibly damaging Het
Apbb2 T C 5: 66,609,444 (GRCm39) K68E probably damaging Het
Arf3 A T 15: 98,638,933 (GRCm39) M108K probably benign Het
Atg2b T A 12: 105,583,388 (GRCm39) I2058F probably damaging Het
Bhlhe40 C T 6: 108,639,518 (GRCm39) L99F probably damaging Het
Cd200l1 T C 16: 45,238,271 (GRCm39) H294R probably benign Het
Cyp2b10 G A 7: 25,625,670 (GRCm39) R500H probably damaging Het
Dlc1 C T 8: 37,039,997 (GRCm39) E937K probably damaging Het
Dll3 A T 7: 27,995,793 (GRCm39) V336D possibly damaging Het
Dync2h1 A G 9: 7,037,727 (GRCm39) F3377L probably benign Het
Eef1d A G 15: 75,768,160 (GRCm39) Y561H probably damaging Het
Efcab3 T G 11: 104,911,352 (GRCm39) V4544G probably benign Het
Epb41l1 C A 2: 156,363,591 (GRCm39) T700K probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Ephb2 C A 4: 136,402,769 (GRCm39) G501C probably benign Het
Erbb3 T C 10: 128,406,030 (GRCm39) Y1129C probably damaging Het
Fbn1 C T 2: 125,212,726 (GRCm39) V799M possibly damaging Het
Fbxo9 G A 9: 77,991,933 (GRCm39) P353S probably benign Het
Gm45861 T C 8: 28,032,531 (GRCm39) M885T unknown Het
Grin2d A T 7: 45,483,425 (GRCm39) Y917* probably null Het
Hectd4 T A 5: 121,415,819 (GRCm39) V540D possibly damaging Het
Helz T A 11: 107,495,079 (GRCm39) I351K probably damaging Het
Ighv2-6-8 A G 12: 113,759,980 (GRCm39) V43A probably damaging Het
Igkv9-129 T A 6: 67,817,106 (GRCm39) I70N probably damaging Het
Il18 A T 9: 50,489,178 (GRCm39) D69V probably damaging Het
Kcnh7 T A 2: 62,552,209 (GRCm39) E927D Het
Kcnt2 T A 1: 140,356,587 (GRCm39) V342E probably benign Het
Khdc4 A G 3: 88,607,286 (GRCm39) N330S probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Krt18 C G 15: 101,937,962 (GRCm39) A153G probably damaging Het
Lmntd2 A T 7: 140,791,977 (GRCm39) probably benign Het
Lrrc26 G T 2: 25,180,286 (GRCm39) A96S probably benign Het
Map3k11 A T 19: 5,752,166 (GRCm39) S783C probably damaging Het
Mib2 G A 4: 155,740,729 (GRCm39) L632F possibly damaging Het
Mical2 A C 7: 111,910,661 (GRCm39) D277A possibly damaging Het
Mtr A T 13: 12,250,365 (GRCm39) F339L probably benign Het
Musk T C 4: 58,354,032 (GRCm39) F362L probably benign Het
Ncor1 G A 11: 62,233,871 (GRCm39) Q444* probably null Het
Nek4 T C 14: 30,685,924 (GRCm39) S279P Het
Nell1 C T 7: 50,210,543 (GRCm39) T348I unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nrip1 T C 16: 76,088,902 (GRCm39) H885R probably damaging Het
Or13a19 G A 7: 139,902,938 (GRCm39) G109R possibly damaging Het
Or2a5 T A 6: 42,874,201 (GRCm39) V272D Het
Or2y12 C A 11: 49,426,028 (GRCm39) N5K probably damaging Het
Or6c208 T C 10: 129,224,240 (GRCm39) V246A probably damaging Het
Or6c69c T A 10: 129,910,522 (GRCm39) V81D possibly damaging Het
Or6d14 A G 6: 116,534,255 (GRCm39) T290A possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
P3h3 C A 6: 124,834,564 (GRCm39) Q29H possibly damaging Het
Parn A G 16: 13,466,281 (GRCm39) probably null Het
Pcnt C A 10: 76,245,407 (GRCm39) E1077* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pigb A G 9: 72,929,576 (GRCm39) W336R probably damaging Het
Pkdrej A T 15: 85,700,538 (GRCm39) S1799R probably damaging Het
Pnpla6 G T 8: 3,567,401 (GRCm39) M86I possibly damaging Het
Prickle2 T C 6: 92,435,620 (GRCm39) K50E possibly damaging Het
Psg21 A G 7: 18,386,389 (GRCm39) V199A probably benign Het
Reep3 T C 10: 66,871,786 (GRCm39) probably null Het
Reln T C 5: 22,104,155 (GRCm39) D3272G probably damaging Het
Rps6ka4 A G 19: 6,808,667 (GRCm39) V526A possibly damaging Het
Sel1l3 T C 5: 53,280,771 (GRCm39) E911G probably damaging Het
Serpinb6b C A 13: 33,162,125 (GRCm39) A308E probably benign Het
Slc26a4 A G 12: 31,572,523 (GRCm39) V746A probably benign Het
Slc4a3 T G 1: 75,527,957 (GRCm39) M402R probably damaging Het
Slc9b1 A T 3: 135,078,900 (GRCm39) T186S possibly damaging Het
Slk A G 19: 47,608,712 (GRCm39) Q555R probably benign Het
Smc2 T A 4: 52,475,100 (GRCm39) D925E probably benign Het
Stat5a A T 11: 100,774,764 (GRCm39) T758S unknown Het
Sulf1 A G 1: 12,906,499 (GRCm39) S514G probably benign Het
Tcp11l1 T A 2: 104,536,853 (GRCm39) N4I probably damaging Het
Tex2 A T 11: 106,402,731 (GRCm39) I1047K unknown Het
Tmem184b A G 15: 79,261,264 (GRCm39) V114A possibly damaging Het
Trmt11 A G 10: 30,467,027 (GRCm39) V95A probably benign Het
Trp53bp2 A G 1: 182,268,433 (GRCm39) D169G possibly damaging Het
Ttc41 T A 10: 86,549,599 (GRCm39) N264K possibly damaging Het
Uba2 A C 7: 33,853,987 (GRCm39) S318R probably benign Het
Wapl T A 14: 34,451,139 (GRCm39) N724K probably damaging Het
Wfdc9 T A 2: 164,493,671 (GRCm39) I5F probably damaging Het
Zan C T 5: 137,406,563 (GRCm39) D3686N unknown Het
Zfp618 A T 4: 63,012,708 (GRCm39) Y140F probably benign Het
Zfp790 A G 7: 29,527,593 (GRCm39) T93A probably benign Het
Zfp979 A C 4: 147,697,984 (GRCm39) F242V 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
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
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'- GCTCATGAATGCCCACAGTATG -3'
(R):5'- CTCCTTTCACGATGGCGATTTAAC -3'

Sequencing Primer
(F):5'- CACAGTATGGGCATCGGG -3'
(R):5'- TGGCGATTTAACCATCTGTTATG -3'
Posted On 2021-10-11