Incidental Mutation 'R5602:Ggt7'
ID 439063
Institutional Source Beutler Lab
Gene Symbol Ggt7
Ensembl Gene ENSMUSG00000027603
Gene Name gamma-glutamyltransferase 7
Synonyms 6330563L03Rik, 1110017C11Rik, Ggtl3
MMRRC Submission 043154-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 155332299-155356921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155332919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 648 (V648A)
Ref Sequence ENSEMBL: ENSMUSP00000029131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029131]
AlphaFold Q99JP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000029131
AA Change: V648A

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029131
Gene: ENSMUSG00000027603
AA Change: V648A

DomainStartEndE-ValueType
low complexity region 28 42 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
Pfam:G_glu_transpept 154 655 1.4e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148296
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Ap2a2 A T 7: 141,184,855 (GRCm39) T213S probably benign Het
Asb5 A G 8: 55,038,974 (GRCm39) E280G probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Jak2 T A 19: 29,275,739 (GRCm39) N726K probably benign Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rasgrf1 T C 9: 89,793,624 (GRCm39) S134P possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Safb2 C A 17: 56,882,630 (GRCm39) K334N possibly damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Supv3l1 G A 10: 62,266,371 (GRCm39) P602S possibly damaging Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tll2 T A 19: 41,093,420 (GRCm39) R465S possibly damaging Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V possibly damaging Het
Other mutations in Ggt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Ggt7 APN 2 155,342,691 (GRCm39) missense probably damaging 0.99
IGL02523:Ggt7 APN 2 155,356,623 (GRCm39) missense probably damaging 1.00
IGL02999:Ggt7 APN 2 155,344,633 (GRCm39) missense probably benign 0.00
R0030:Ggt7 UTSW 2 155,348,408 (GRCm39) missense probably benign 0.00
R0038:Ggt7 UTSW 2 155,344,701 (GRCm39) missense probably benign 0.08
R0106:Ggt7 UTSW 2 155,336,813 (GRCm39) missense possibly damaging 0.63
R0106:Ggt7 UTSW 2 155,336,813 (GRCm39) missense possibly damaging 0.63
R0683:Ggt7 UTSW 2 155,348,428 (GRCm39) missense probably benign 0.08
R1035:Ggt7 UTSW 2 155,348,347 (GRCm39) missense probably damaging 1.00
R1500:Ggt7 UTSW 2 155,340,966 (GRCm39) missense probably benign 0.00
R1633:Ggt7 UTSW 2 155,344,608 (GRCm39) missense probably damaging 1.00
R1693:Ggt7 UTSW 2 155,348,395 (GRCm39) missense probably damaging 0.99
R1696:Ggt7 UTSW 2 155,336,899 (GRCm39) missense possibly damaging 0.89
R1879:Ggt7 UTSW 2 155,356,707 (GRCm39) missense possibly damaging 0.91
R2219:Ggt7 UTSW 2 155,337,639 (GRCm39) missense probably damaging 1.00
R2220:Ggt7 UTSW 2 155,337,639 (GRCm39) missense probably damaging 1.00
R4010:Ggt7 UTSW 2 155,342,652 (GRCm39) missense probably benign 0.00
R5680:Ggt7 UTSW 2 155,348,353 (GRCm39) missense probably damaging 1.00
R6092:Ggt7 UTSW 2 155,359,959 (GRCm39) critical splice donor site probably null
R6440:Ggt7 UTSW 2 155,340,731 (GRCm39) missense probably damaging 1.00
R6989:Ggt7 UTSW 2 155,345,380 (GRCm39) missense probably benign 0.25
R7050:Ggt7 UTSW 2 155,348,295 (GRCm39) missense probably benign 0.10
R7058:Ggt7 UTSW 2 155,345,015 (GRCm39) splice site probably null
R7395:Ggt7 UTSW 2 155,337,800 (GRCm39) missense probably benign 0.26
R7768:Ggt7 UTSW 2 155,348,421 (GRCm39) missense possibly damaging 0.60
R7946:Ggt7 UTSW 2 155,347,892 (GRCm39) missense probably damaging 0.98
X0065:Ggt7 UTSW 2 155,337,615 (GRCm39) missense probably benign 0.37
Z1176:Ggt7 UTSW 2 155,340,983 (GRCm39) missense probably damaging 1.00
Z1176:Ggt7 UTSW 2 155,332,998 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGTCATCATTCCCACCAAAGG -3'
(R):5'- TAAGGTCCCTGAGTCAGCAC -3'

Sequencing Primer
(F):5'- GATAGGGTTTGCTAAGCATCCCC -3'
(R):5'- GAGTCAGCACTCTAACGCATGTATG -3'
Posted On 2016-10-26