Incidental Mutation 'R1131:Ggt6'
| ID |
94639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggt6
|
| Ensembl Gene |
ENSMUSG00000040471 |
| Gene Name |
gamma-glutamyltransferase 6 |
| Synonyms |
9030405D14Rik |
| MMRRC Submission |
039204-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1131 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72326352-72329226 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72326506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 21
(E21G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076443]
[ENSMUST00000100903]
[ENSMUST00000108499]
|
| AlphaFold |
Q6PDE7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076443
AA Change: E21G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: E21G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
77 |
N/A |
INTRINSIC |
|
Pfam:G_glu_transpept
|
124 |
179 |
1.4e-9 |
PFAM |
|
Pfam:G_glu_transpept
|
180 |
276 |
7.6e-11 |
PFAM |
|
Pfam:G_glu_transpept
|
327 |
402 |
1.4e-9 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100903
AA Change: E21G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
AA Change: E21G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
77 |
N/A |
INTRINSIC |
|
Pfam:G_glu_transpept
|
125 |
238 |
2.1e-11 |
PFAM |
|
Pfam:G_glu_transpept
|
290 |
367 |
6.7e-9 |
PFAM |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
451 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108499
AA Change: E21G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104139
Gene: ENSMUSG00000040471
AA Change: E21G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
G |
T |
3: 146,356,837 (GRCm39) |
H24N |
probably damaging |
Het |
| Ano7 |
T |
C |
1: 93,329,498 (GRCm39) |
F723L |
probably benign |
Het |
| Clec9a |
T |
G |
6: 129,387,278 (GRCm39) |
C44W |
probably damaging |
Het |
| Commd7 |
T |
A |
2: 153,464,047 (GRCm39) |
Q44L |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,509,094 (GRCm39) |
S274T |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,384,129 (GRCm39) |
E342V |
possibly damaging |
Het |
| Gata4 |
A |
G |
14: 63,442,189 (GRCm39) |
F210S |
possibly damaging |
Het |
| Gzf1 |
A |
G |
2: 148,532,787 (GRCm39) |
N647S |
probably benign |
Het |
| Hnrnpk |
T |
C |
13: 58,541,979 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
G |
A |
1: 134,915,042 (GRCm39) |
R569W |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,838,144 (GRCm39) |
I458N |
probably benign |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Or51a25 |
C |
A |
7: 102,372,887 (GRCm39) |
R270L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,013,213 (GRCm39) |
S375T |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,725,828 (GRCm39) |
E331K |
probably damaging |
Het |
| Tcirg1 |
A |
G |
19: 3,946,301 (GRCm39) |
S799P |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,772,963 (GRCm39) |
D439V |
unknown |
Het |
| Tnrc6b |
A |
T |
15: 80,778,654 (GRCm39) |
Q1209L |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,934,717 (GRCm39) |
C811S |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,348,378 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,551 (GRCm39) |
F6Y |
possibly damaging |
Het |
|
| Other mutations in Ggt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02442:Ggt6
|
APN |
11 |
72,327,632 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
hallo
|
UTSW |
11 |
72,328,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03097:Ggt6
|
UTSW |
11 |
72,327,639 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0080:Ggt6
|
UTSW |
11 |
72,328,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0178:Ggt6
|
UTSW |
11 |
72,327,644 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0595:Ggt6
|
UTSW |
11 |
72,328,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0842:Ggt6
|
UTSW |
11 |
72,328,088 (GRCm39) |
nonsense |
probably null |
|
|
R1606:Ggt6
|
UTSW |
11 |
72,328,559 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2029:Ggt6
|
UTSW |
11 |
72,328,367 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2359:Ggt6
|
UTSW |
11 |
72,328,377 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2869:Ggt6
|
UTSW |
11 |
72,328,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2869:Ggt6
|
UTSW |
11 |
72,328,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4462:Ggt6
|
UTSW |
11 |
72,328,654 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4608:Ggt6
|
UTSW |
11 |
72,328,769 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4735:Ggt6
|
UTSW |
11 |
72,327,425 (GRCm39) |
missense |
probably benign |
|
|
R5431:Ggt6
|
UTSW |
11 |
72,328,564 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5648:Ggt6
|
UTSW |
11 |
72,326,542 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6390:Ggt6
|
UTSW |
11 |
72,327,437 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6717:Ggt6
|
UTSW |
11 |
72,328,346 (GRCm39) |
nonsense |
probably null |
|
|
R7506:Ggt6
|
UTSW |
11 |
72,328,724 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7798:Ggt6
|
UTSW |
11 |
72,326,367 (GRCm39) |
start gained |
probably benign |
|
|
R9025:Ggt6
|
UTSW |
11 |
72,328,123 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9057:Ggt6
|
UTSW |
11 |
72,328,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9411:Ggt6
|
UTSW |
11 |
72,326,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ggt6
|
UTSW |
11 |
72,327,425 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGAGCCCCGAGTCCTAACGAG -3'
(R):5'- AAGTGTGAGATTGCCTGACCCAGC -3'
Sequencing Primer
(F):5'- CCTAACGAGGCAGGCTCATAG -3'
(R):5'- AGCTTAGGGATTCCAGAGAGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation