Incidental Mutation 'R6092:Ggt7'
ID 485967
Institutional Source Beutler Lab
Gene Symbol Ggt7
Ensembl Gene ENSMUSG00000027603
Gene Name gamma-glutamyltransferase 7
Synonyms 6330563L03Rik, 1110017C11Rik, Ggtl3
MMRRC Submission 044249-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R6092 (G1)
Quality Score 102.008
Status Validated
Chromosome 2
Chromosomal Location 155332299-155356921 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 155359959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029131] [ENSMUST00000029135] [ENSMUST00000065973] [ENSMUST00000103142] [ENSMUST00000133654] [ENSMUST00000147601] [ENSMUST00000147601] [ENSMUST00000147601]
AlphaFold Q99JP7
Predicted Effect probably benign
Transcript: ENSMUST00000029131
SMART Domains Protein: ENSMUSP00000029131
Gene: ENSMUSG00000027603

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 probably benign
Transcript: ENSMUST00000029135
SMART Domains Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 1.9e-96 PFAM
Pfam:AMP-binding_C 583 661 2.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065973
SMART Domains Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:AMP-binding 108 575 4.8e-98 PFAM
Pfam:AMP-binding_C 583 660 3.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103142
SMART Domains Protein: ENSMUSP00000099431
Gene: ENSMUSG00000027605

DomainStartEndE-ValueType
Pfam:ACAS_N 47 107 8.1e-21 PFAM
Pfam:AMP-binding 108 588 4.7e-97 PFAM
Pfam:AMP-binding_C 596 674 1.3e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131054
Predicted Effect probably benign
Transcript: ENSMUST00000133654
Predicted Effect probably null
Transcript: ENSMUST00000147601
SMART Domains Protein: ENSMUSP00000120560
Gene: ENSMUSG00000027603

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 154 202 6.6e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000147601
SMART Domains Protein: ENSMUSP00000120560
Gene: ENSMUSG00000027603

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 154 202 6.6e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000147601
SMART Domains Protein: ENSMUSP00000120560
Gene: ENSMUSG00000027603

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 154 202 6.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149788
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (61/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,701 (GRCm39) P1297S probably benign Het
4930486L24Rik C T 13: 61,001,461 (GRCm39) V89M probably benign Het
Abhd16a T C 17: 35,317,786 (GRCm39) probably null Het
Abtb1 A C 6: 88,815,433 (GRCm39) C264G probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arid1a C T 4: 133,421,163 (GRCm39) G881R unknown Het
Asb8 A G 15: 98,034,123 (GRCm39) V144A possibly damaging Het
Atm A C 9: 53,435,714 (GRCm39) C199G probably damaging Het
Atxn1 C A 13: 45,720,288 (GRCm39) V536L probably benign Het
Baz1a C T 12: 54,955,868 (GRCm39) V1074M possibly damaging Het
BC034090 T A 1: 155,100,659 (GRCm39) D535V probably damaging Het
Casp8ap2 C A 4: 32,639,380 (GRCm39) H145N probably damaging Het
Ccdc24 T A 4: 117,729,645 (GRCm39) K25* probably null Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Cdh20 A T 1: 110,026,036 (GRCm39) Y424F probably benign Het
Clasp1 T C 1: 118,438,028 (GRCm39) S612P probably damaging Het
Cxcl14 T C 13: 56,443,646 (GRCm39) M55V possibly damaging Het
Dnah11 T C 12: 117,892,191 (GRCm39) T3661A probably benign Het
Dnah14 T A 1: 181,449,398 (GRCm39) D574E probably benign Het
Dnah6 C T 6: 73,091,680 (GRCm39) V2204M possibly damaging Het
Ercc4 A T 16: 12,943,125 (GRCm39) H178L probably benign Het
Far2 T C 6: 148,076,581 (GRCm39) F475L probably benign Het
Gm4131 T A 14: 62,718,364 (GRCm39) T81S possibly damaging Het
Gprc6a A G 10: 51,491,173 (GRCm39) S788P probably damaging Het
Hmgxb3 C A 18: 61,270,672 (GRCm39) G884V possibly damaging Het
Homer1 T A 13: 93,502,945 (GRCm39) probably benign Het
Iars1 T C 13: 49,861,897 (GRCm39) S483P probably damaging Het
Kansl1l C G 1: 66,812,643 (GRCm39) E457Q probably damaging Het
Krtap4-9 G A 11: 99,676,481 (GRCm39) probably benign Het
Lepr C A 4: 101,649,220 (GRCm39) P874T probably damaging Het
Mad2l2 T A 4: 148,228,067 (GRCm39) F100L probably damaging Het
Mavs A T 2: 131,087,518 (GRCm39) R339* probably null Het
Mettl1 G A 10: 126,877,843 (GRCm39) probably benign Het
Mfsd8 A G 3: 40,774,031 (GRCm39) V493A possibly damaging Het
Mtmr9 C T 14: 63,779,901 (GRCm39) V63M possibly damaging Het
Mto1 T C 9: 78,368,131 (GRCm39) I425T possibly damaging Het
Or2av9 A T 11: 58,380,900 (GRCm39) M227K probably damaging Het
Or5g29 A G 2: 85,420,950 (GRCm39) Y22C probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pclo C T 5: 14,727,937 (GRCm39) probably benign Het
Phf2 T C 13: 48,969,533 (GRCm39) D608G unknown Het
Plch2 T C 4: 155,068,829 (GRCm39) T1266A probably benign Het
Prdm12 A G 2: 31,533,889 (GRCm39) N169D probably damaging Het
Rimbp3 A G 16: 17,030,134 (GRCm39) Y1186C probably damaging Het
Serpinb3d T C 1: 107,006,989 (GRCm39) M240V probably damaging Het
Slc25a38 C T 9: 119,945,658 (GRCm39) R74C probably damaging Het
Slc25a39 A T 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc26a8 T C 17: 28,867,129 (GRCm39) N564S probably damaging Het
Spag4 G A 2: 155,907,696 (GRCm39) probably benign Het
Stx1b A G 7: 127,407,035 (GRCm39) M74T possibly damaging Het
Tbc1d1 A G 5: 64,507,242 (GRCm39) D1153G probably benign Het
Tert T C 13: 73,776,700 (GRCm39) F484L probably benign Het
Tet1 A G 10: 62,649,494 (GRCm39) V72A probably benign Het
Tnfrsf13c T C 15: 82,107,355 (GRCm39) T147A probably damaging Het
Trpa1 A T 1: 14,959,710 (GRCm39) Y659N probably damaging Het
Trpm2 A G 10: 77,761,516 (GRCm39) F1045L probably benign Het
Ttc13 T C 8: 125,405,772 (GRCm39) H529R probably benign Het
Ttn T C 2: 76,545,614 (GRCm39) T32570A probably damaging Het
Uba7 A G 9: 107,860,359 (GRCm39) T892A possibly damaging Het
Uty A T Y: 1,174,836 (GRCm39) M195K probably benign Het
Zfp109 A G 7: 23,928,978 (GRCm39) S152P possibly damaging Het
Zfp532 T C 18: 65,777,281 (GRCm39) V846A probably damaging Het
Zfp658 A T 7: 43,223,951 (GRCm39) H742L possibly damaging Het
Zfp831 C A 2: 174,547,299 (GRCm39) P1494Q probably 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
R5602:Ggt7 UTSW 2 155,332,919 (GRCm39) missense possibly damaging 0.82
R5680:Ggt7 UTSW 2 155,348,353 (GRCm39) missense probably damaging 1.00
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'- TCCACTGTCATTCCAAGGCC -3'
(R):5'- TCGGTAAATCTCCCTCGGAC -3'

Sequencing Primer
(F):5'- TGTCATTCCAAGGCCCCACC -3'
(R):5'- TGGCTCCTCCACAGAACG -3'
Posted On 2017-08-16