Incidental Mutation 'R1035:Ggt7'
ID |
95507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggt7
|
Ensembl Gene |
ENSMUSG00000027603 |
Gene Name |
gamma-glutamyltransferase 7 |
Synonyms |
6330563L03Rik, 1110017C11Rik, Ggtl3 |
MMRRC Submission |
039134-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.341)
|
Stock # |
R1035 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155332299-155356921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 155348347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 102
(C102S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029131]
[ENSMUST00000147601]
[ENSMUST00000176117]
|
AlphaFold |
Q99JP7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029131
AA Change: C102S
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029131 Gene: ENSMUSG00000027603 AA Change: C102S
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 |
probably damaging
Transcript: ENSMUST00000147601
AA Change: C102S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120560 Gene: ENSMUSG00000027603 AA Change: C102S
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 |
possibly damaging
Transcript: ENSMUST00000176117
AA Change: C26S
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135314 Gene: ENSMUSG00000027603 AA Change: C26S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
Pfam:G_glu_transpept
|
78 |
271 |
1.4e-63 |
PFAM |
|
Meta Mutation Damage Score |
0.3474 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.4%
|
Validation Efficiency |
97% (36/37) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Ap3b2 |
A |
T |
7: 81,113,659 (GRCm39) |
L850Q |
unknown |
Het |
Asxl3 |
T |
C |
18: 22,658,106 (GRCm39) |
S2039P |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,612,235 (GRCm39) |
M109K |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,724,011 (GRCm39) |
N933S |
probably damaging |
Het |
Cbln4 |
T |
C |
2: 171,883,989 (GRCm39) |
N77S |
possibly damaging |
Het |
Chek1 |
A |
G |
9: 36,627,769 (GRCm39) |
I256T |
probably damaging |
Het |
Col5a3 |
A |
T |
9: 20,704,795 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
C |
T |
7: 25,616,473 (GRCm39) |
S360L |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,167,202 (GRCm39) |
S222P |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,163,608 (GRCm39) |
I471V |
probably benign |
Het |
Ear2 |
A |
T |
14: 44,340,344 (GRCm39) |
M1L |
possibly damaging |
Het |
Entpd6 |
T |
A |
2: 150,606,112 (GRCm39) |
|
probably benign |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fam98b |
C |
T |
2: 117,101,120 (GRCm39) |
R311W |
possibly damaging |
Het |
Myo15a |
T |
C |
11: 60,401,384 (GRCm39) |
|
probably benign |
Het |
Nlrp9c |
C |
T |
7: 26,070,702 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
Pcsk1 |
T |
C |
13: 75,280,238 (GRCm39) |
S688P |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,944,900 (GRCm39) |
F1319L |
probably benign |
Het |
Ppig |
T |
C |
2: 69,579,803 (GRCm39) |
Y446H |
unknown |
Het |
Spmap2 |
G |
A |
10: 79,419,684 (GRCm39) |
T182M |
probably damaging |
Het |
Stk17b |
T |
C |
1: 53,801,758 (GRCm39) |
T88A |
probably benign |
Het |
Tas2r143 |
A |
T |
6: 42,377,199 (GRCm39) |
I10F |
probably benign |
Het |
Tmprss12 |
G |
A |
15: 100,183,081 (GRCm39) |
R141Q |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,961,527 (GRCm39) |
|
probably null |
Het |
Txndc16 |
A |
G |
14: 45,410,020 (GRCm39) |
S187P |
possibly damaging |
Het |
Vmn2r98 |
T |
C |
17: 19,301,011 (GRCm39) |
I671T |
possibly damaging |
Het |
Zfp78 |
G |
T |
7: 6,381,660 (GRCm39) |
V237F |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCACCCTGCTGGAAGATCTAAG -3'
(R):5'- TATTCTCAGCCTGGAGAGCCAGAC -3'
Sequencing Primer
(F):5'- CTGCTGGAAGATCTAAGAGCAAG -3'
(R):5'- TATTTGCCAGAGGCAGAAATCC -3'
|
Posted On |
2014-01-05 |