Incidental Mutation 'R0022:Ggct'
| ID |
15226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggct
|
| Ensembl Gene |
ENSMUSG00000002797 |
| Gene Name |
gamma-glutamyl cyclotransferase |
| Synonyms |
A030007L17Rik, Ggc, Gctg |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
54962080-54969947 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 54962887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 175
(E175*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131475]
[ENSMUST00000203208]
[ENSMUST00000204301]
|
| AlphaFold |
Q9D7X8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000002874
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131475
AA Change: E175*
|
| SMART Domains |
Protein: ENSMUSP00000120154
Gene: ENSMUSG00000002797
AA Change: E175*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GGACT
|
19 |
143 |
2.2e-11 |
PFAM |
|
Pfam:AIG2_2
|
78 |
160 |
3.1e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203208
|
| SMART Domains |
Protein: ENSMUSP00000145492
Gene: ENSMUSG00000002797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIG2_2
|
63 |
124 |
4.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204301
|
| SMART Domains |
Protein: ENSMUSP00000145291
Gene: ENSMUSG00000002797
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2RBH|B
|
1 |
67 |
2e-32 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204770
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ggct |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0022:Ggct
|
UTSW |
6 |
54,962,887 (GRCm39) |
nonsense |
probably null |
|
|
R1109:Ggct
|
UTSW |
6 |
54,966,554 (GRCm39) |
splice site |
probably benign |
|
|
R2874:Ggct
|
UTSW |
6 |
54,969,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Ggct
|
UTSW |
6 |
54,962,872 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Protein Function and Prediction |
GGCT catalyzes the formation of 5-oxoproline (pyroglutamic acid) from gamma-glutamyl dipeptides (1). Oakley et al. proposed that GGCT functions in glutathione homeostasis (1). In a cell-free system, GGCT induced the release of cytochrome c from mitochondria and functions in geranylgeraniol-induced apoptosis of human leukemia U937 cells (2).
|
| Expression/Localization |
GGCT is moderately expressed in several tissues, with highest levels observed in the bladder and salivary gland (1). In another study, high expression of Ggct was observed in the kidney and liver (3). In situ hybridization detected Ggct mRNA in the cytoplasm of liver hepatocytes and in the outer layer of the outer zone of the medulla of the kidney (3).
|
| References |
1. Oakley, A. J., Yamada, T., Liu, D., Coggan, M., Clark, A. G., and Board, P. G. (2008) The Identification and Structural Characterization of C7orf24 as Gamma-Glutamyl Cyclotransferase. an Essential Enzyme in the Gamma-Glutamyl Cycle. J Biol Chem. 283, 22031-22042.
2. Masuda, Y., Maeda, S., Watanabe, A., Sano, Y., Aiuchi, T., Nakajo, S., Itabe, H., and Nakaya, K. (2006) A Novel 21-kDa Cytochrome c-Releasing Factor is Generated upon Treatment of Human Leukemia U937 Cells with Geranylgeraniol. Biochem Biophys Res Commun. 346, 454-460.
3. Oda, K., Makino, S., Masuda, C., Yoshiki, T., Kitamura, Y., Takata, K., Yanagisawa, D., Taniguchi, T., and Tooyama, I. (2009) The mRNA Distribution of C7orf24, a Gamma-Glutamyl Cyclotransferase, in Rat Tissues. J Histochem Cytochem. 57, 1121-1126. |
| Posted On |
2012-12-12 |
| Science Writer |
Anne Murray |
Incidental Mutation