Incidental Mutation 'IGL01285:Ggt7'
ID |
72707 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ggt7
|
Ensembl Gene |
ENSMUSG00000027603 |
Gene Name |
gamma-glutamyltransferase 7 |
Synonyms |
6330563L03Rik, 1110017C11Rik, Ggtl3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
IGL01285
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
155332299-155356921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155342691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 269
(V269A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029131]
[ENSMUST00000147601]
[ENSMUST00000176117]
|
AlphaFold |
Q99JP7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029131
AA Change: V345A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029131 Gene: ENSMUSG00000027603 AA Change: V345A
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 |
probably benign
Transcript: ENSMUST00000147601
|
SMART Domains |
Protein: ENSMUSP00000120560 Gene: ENSMUSG00000027603
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 |
202 |
6.6e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148296
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176117
AA Change: V269A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135314 Gene: ENSMUSG00000027603 AA Change: V269A
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 |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,271,610 (GRCm39) |
N599S |
probably benign |
Het |
Adam6a |
A |
T |
12: 113,509,893 (GRCm39) |
*755Y |
probably null |
Het |
Adgrb3 |
G |
T |
1: 25,132,868 (GRCm39) |
T1166K |
probably benign |
Het |
Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,149,275 (GRCm39) |
V862A |
probably damaging |
Het |
Asap2 |
C |
T |
12: 21,279,264 (GRCm39) |
A382V |
probably damaging |
Het |
Asb18 |
A |
G |
1: 89,923,963 (GRCm39) |
V100A |
probably benign |
Het |
Bdnf |
G |
A |
2: 109,553,931 (GRCm39) |
A102T |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
Cfap47 |
A |
G |
X: 78,532,764 (GRCm39) |
I767T |
possibly damaging |
Het |
Des |
G |
A |
1: 75,339,227 (GRCm39) |
A251T |
probably benign |
Het |
Dmd |
C |
T |
X: 84,153,590 (GRCm39) |
Q3224* |
probably null |
Het |
Endog |
G |
T |
2: 30,061,975 (GRCm39) |
|
probably null |
Het |
Gucy2c |
A |
G |
6: 136,686,739 (GRCm39) |
F808S |
probably damaging |
Het |
Hira |
A |
G |
16: 18,730,930 (GRCm39) |
T210A |
probably benign |
Het |
Ifitm5 |
C |
A |
7: 140,530,076 (GRCm39) |
R16L |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,031,273 (GRCm39) |
C404R |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
Irf9 |
A |
G |
14: 55,845,058 (GRCm39) |
E258G |
probably damaging |
Het |
Megf11 |
T |
C |
9: 64,567,728 (GRCm39) |
C406R |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,189,364 (GRCm39) |
N143S |
possibly damaging |
Het |
Or4m1 |
A |
G |
14: 50,557,713 (GRCm39) |
F193S |
possibly damaging |
Het |
Or6c66b |
T |
A |
10: 129,376,711 (GRCm39) |
F102I |
probably benign |
Het |
Or7g30 |
A |
G |
9: 19,352,266 (GRCm39) |
D19G |
probably benign |
Het |
Otof |
G |
T |
5: 30,562,527 (GRCm39) |
Q254K |
probably damaging |
Het |
Pate7 |
A |
T |
9: 35,688,044 (GRCm39) |
N65K |
possibly damaging |
Het |
Plcd3 |
A |
G |
11: 102,968,696 (GRCm39) |
F332L |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,635,230 (GRCm39) |
D1332G |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,634,130 (GRCm39) |
D521V |
probably benign |
Het |
Sema5a |
T |
A |
15: 32,575,143 (GRCm39) |
V417D |
possibly damaging |
Het |
Senp6 |
G |
A |
9: 80,044,000 (GRCm39) |
R877Q |
probably benign |
Het |
Shroom2 |
A |
T |
X: 151,442,353 (GRCm39) |
D937E |
probably damaging |
Het |
Slc35a3 |
A |
G |
3: 116,488,262 (GRCm39) |
S142P |
probably damaging |
Het |
Srpx |
A |
T |
X: 9,905,298 (GRCm39) |
V398E |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,560,653 (GRCm39) |
K669N |
possibly damaging |
Het |
Sumf2 |
A |
G |
5: 129,878,811 (GRCm39) |
D49G |
probably damaging |
Het |
Syde1 |
T |
A |
10: 78,424,721 (GRCm39) |
E370D |
probably damaging |
Het |
Tas2r115 |
G |
T |
6: 132,714,641 (GRCm39) |
S103R |
probably damaging |
Het |
Top2a |
G |
A |
11: 98,896,985 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,550,842 (GRCm39) |
T23190S |
probably damaging |
Het |
Ttyh3 |
C |
A |
5: 140,615,167 (GRCm39) |
C407F |
probably damaging |
Het |
Vmn2r27 |
G |
T |
6: 124,169,370 (GRCm39) |
H587N |
possibly damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,606,692 (GRCm39) |
I218T |
possibly damaging |
Het |
Vsig10 |
A |
G |
5: 117,462,954 (GRCm39) |
N60S |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,956,979 (GRCm39) |
S877P |
probably damaging |
Het |
Zfp979 |
G |
T |
4: 147,699,853 (GRCm39) |
T29N |
probably damaging |
Het |
Znfx1 |
G |
A |
2: 166,880,615 (GRCm39) |
R390C |
possibly damaging |
Het |
|
Other mutations in Ggt7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
Posted On |
2013-10-07 |