Incidental Mutation 'R6440:Ggt7'
ID |
518960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggt7
|
Ensembl Gene |
ENSMUSG00000027603 |
Gene Name |
gamma-glutamyltransferase 7 |
Synonyms |
6330563L03Rik, 1110017C11Rik, Ggtl3 |
MMRRC Submission |
044578-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
R6440 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155332299-155356921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155340731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 424
(D424G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029131]
[ENSMUST00000176117]
|
AlphaFold |
Q99JP7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029131
AA Change: D424G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029131 Gene: ENSMUSG00000027603 AA Change: D424G
Domain | Start | End | E-Value | Type |
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: ENSMUST00000138033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176117
|
SMART Domains |
Protein: ENSMUSP00000135314 Gene: ENSMUSG00000027603
Domain | Start | End | E-Value | Type |
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
Pfam:G_glu_transpept
|
78 |
271 |
1.4e-63 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.7%
|
Validation Efficiency |
100% (40/40) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
C |
17: 56,101,744 (GRCm39) |
|
probably null |
Het |
Adgrl3 |
C |
T |
5: 81,942,341 (GRCm39) |
Q684* |
probably null |
Het |
Ahi1 |
T |
A |
10: 20,835,981 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
G |
1: 58,133,631 (GRCm39) |
T1070A |
probably damaging |
Het |
B3gnt9 |
C |
T |
8: 105,980,531 (GRCm39) |
|
probably null |
Het |
C3ar1 |
G |
T |
6: 122,827,467 (GRCm39) |
A250E |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,771,143 (GRCm39) |
F284L |
probably damaging |
Het |
Cdc25a |
T |
C |
9: 109,710,566 (GRCm39) |
I90T |
probably benign |
Het |
Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
Ces2a |
C |
T |
8: 105,467,954 (GRCm39) |
A528V |
probably benign |
Het |
Cyp2c70 |
T |
C |
19: 40,145,250 (GRCm39) |
N402S |
possibly damaging |
Het |
F3 |
A |
G |
3: 121,518,686 (GRCm39) |
E50G |
probably damaging |
Het |
Fli1 |
A |
T |
9: 32,335,197 (GRCm39) |
S412T |
probably benign |
Het |
Flt1 |
T |
A |
5: 147,501,115 (GRCm39) |
D1306V |
possibly damaging |
Het |
Grm7 |
A |
T |
6: 111,230,981 (GRCm39) |
N468I |
probably damaging |
Het |
Htr5a |
T |
A |
5: 28,055,870 (GRCm39) |
V287E |
probably damaging |
Het |
Map3k21 |
T |
C |
8: 126,637,876 (GRCm39) |
V154A |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,552,655 (GRCm39) |
V4546A |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,147,516 (GRCm39) |
Y121C |
probably damaging |
Het |
Nckap1l |
C |
A |
15: 103,379,659 (GRCm39) |
Y315* |
probably null |
Het |
Ntpcr |
T |
A |
8: 126,471,981 (GRCm39) |
S64T |
probably damaging |
Het |
Or1e1c |
A |
T |
11: 73,266,173 (GRCm39) |
E202D |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,637,837 (GRCm39) |
S186P |
probably damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,490 (GRCm39) |
F26S |
probably damaging |
Het |
Pate9 |
T |
A |
9: 36,453,168 (GRCm39) |
M1L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,674,902 (GRCm39) |
C5R |
probably damaging |
Het |
Pgap2 |
T |
A |
7: 101,886,594 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
T |
C |
11: 68,424,522 (GRCm39) |
W376R |
probably benign |
Het |
Plekha2 |
T |
C |
8: 25,578,413 (GRCm39) |
Y29C |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,234,180 (GRCm39) |
K779E |
probably damaging |
Het |
Prss16 |
A |
G |
13: 22,187,330 (GRCm39) |
V98A |
probably damaging |
Het |
Robo2 |
C |
T |
16: 73,713,010 (GRCm39) |
D1287N |
probably benign |
Het |
Sgsm1 |
A |
G |
5: 113,426,997 (GRCm39) |
|
probably null |
Het |
Slc40a1 |
A |
T |
1: 45,964,422 (GRCm39) |
M1K |
probably null |
Het |
Smo |
A |
G |
6: 29,756,813 (GRCm39) |
H437R |
possibly damaging |
Het |
Sult3a1 |
T |
C |
10: 33,746,198 (GRCm39) |
Y173H |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,116,555 (GRCm39) |
R898S |
possibly damaging |
Het |
Synpo2l |
A |
G |
14: 20,718,244 (GRCm39) |
V7A |
probably damaging |
Het |
Thsd1 |
C |
T |
8: 22,748,569 (GRCm39) |
A427V |
possibly damaging |
Het |
Tnfrsf17 |
G |
A |
16: 11,137,754 (GRCm39) |
G164S |
probably benign |
Het |
Zfp235 |
A |
G |
7: 23,840,040 (GRCm39) |
K153R |
probably damaging |
Het |
|
Other mutations in Ggt7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
R6092:Ggt7
|
UTSW |
2 |
155,359,959 (GRCm39) |
critical splice donor site |
probably null |
|
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'- TTGACCAACTCACTCTGCAGAC -3'
(R):5'- TCGTCAGGATTTGGGAACAC -3'
Sequencing Primer
(F):5'- CAGAGGCACCACGTGTCAC -3'
(R):5'- TCAGGATTTGGGAACACTAGAAATG -3'
|
Posted On |
2018-05-24 |