Incidental Mutation 'R0683:Ggt7'
| ID |
61042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggt7
|
| Ensembl Gene |
ENSMUSG00000027603 |
| Gene Name |
gamma-glutamyltransferase 7 |
| Synonyms |
6330563L03Rik, 1110017C11Rik, Ggtl3 |
| MMRRC Submission |
038868-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.341)
|
| Stock # |
R0683 (G1)
|
| Quality Score |
95 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155332299-155356921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155348428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 75
(S75P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029131]
[ENSMUST00000147601]
[ENSMUST00000176117]
|
| AlphaFold |
Q99JP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029131
AA Change: S75P
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029131
Gene: ENSMUSG00000027603
AA Change: S75P
| 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 benign
Transcript: ENSMUST00000147601
AA Change: S75P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000120560
Gene: ENSMUSG00000027603
AA Change: S75P
| 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
|
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,591 (GRCm39) |
D533G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Eif3i |
G |
T |
4: 129,487,328 (GRCm39) |
N162K |
probably benign |
Het |
| Exoc8 |
A |
G |
8: 125,622,372 (GRCm39) |
I665T |
probably damaging |
Het |
| Gjd3 |
A |
T |
11: 102,691,237 (GRCm39) |
F255L |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,758,901 (GRCm39) |
F88L |
unknown |
Het |
| Maml3 |
G |
A |
3: 51,764,173 (GRCm39) |
Q264* |
probably null |
Het |
| Ncoa4-ps |
T |
C |
12: 119,224,813 (GRCm39) |
|
noncoding transcript |
Het |
| Neu1 |
A |
T |
17: 35,153,301 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,783,477 (GRCm39) |
T193A |
probably benign |
Het |
| Or4c12b |
C |
G |
2: 89,647,522 (GRCm39) |
P278R |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,172,969 (GRCm39) |
T23A |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,740 (GRCm39) |
I112V |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,721,086 (GRCm39) |
V1385D |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,751 (GRCm39) |
N249S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,255,950 (GRCm39) |
T923A |
probably benign |
Het |
| Speg |
G |
A |
1: 75,405,762 (GRCm39) |
A2989T |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,512,237 (GRCm39) |
V465E |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,768,653 (GRCm39) |
T2973I |
unknown |
Het |
| Vav3 |
C |
A |
3: 109,559,129 (GRCm39) |
Q110K |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,684,940 (GRCm39) |
D274G |
probably benign |
Het |
| Zfp763 |
G |
A |
17: 33,237,892 (GRCm39) |
P418S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTTGCATGACCAGCGCCAC -3'
(R):5'- TATTCTCAGCCTGGAGAGCCAGAC -3'
Sequencing Primer
(F):5'- GCAAGAACACTCTGCTGCT -3'
(R):5'- TATTTGCCAGAGGCAGAAATCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation