Incidental Mutation 'IGL02999:Ggt7'
ID |
407237 |
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: 0.341)
|
Stock # |
IGL02999
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
155332299-155356921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 155344633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 237
(V237L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029131]
[ENSMUST00000147601]
[ENSMUST00000176117]
|
AlphaFold |
Q99JP7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029131
AA Change: V313L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000029131 Gene: ENSMUSG00000027603 AA Change: V313L
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 benign
Transcript: ENSMUST00000176117
AA Change: V237L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000135314 Gene: ENSMUSG00000027603 AA Change: V237L
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
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 |
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 |
2016-08-02 |