Incidental Mutation 'R4462:Ggt6'
| ID |
330196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggt6
|
| Ensembl Gene |
ENSMUSG00000040471 |
| Gene Name |
gamma-glutamyltransferase 6 |
| Synonyms |
9030405D14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72326352-72329226 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72328654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 385
(H385N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045633]
[ENSMUST00000076443]
[ENSMUST00000100903]
[ENSMUST00000108499]
|
| AlphaFold |
Q6PDE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045633
|
| SMART Domains |
Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNA_pol_phi
|
70 |
835 |
1.2e-194 |
PFAM |
|
low complexity region
|
839 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
1080 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1122 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1269 |
N/A |
INTRINSIC |
|
low complexity region
|
1314 |
1329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076443
AA Change: H385N
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: H385N
| 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: H347N
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
AA Change: H347N
| 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 |
probably benign
Transcript: ENSMUST00000108499
|
| SMART Domains |
Protein: ENSMUSP00000104139
Gene: ENSMUSG00000040471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162048
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
T |
6: 55,457,084 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,836,357 (GRCm39) |
A705V |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,893,278 (GRCm39) |
V975E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Btnl6 |
A |
G |
17: 34,727,031 (GRCm39) |
S500P |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,368,876 (GRCm39) |
V34A |
probably damaging |
Het |
| Defa17 |
A |
G |
8: 22,146,553 (GRCm39) |
R60G |
probably benign |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fuca2 |
T |
C |
10: 13,378,979 (GRCm39) |
V41A |
probably damaging |
Het |
| Hgsnat |
G |
A |
8: 26,444,664 (GRCm39) |
T428I |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,891,015 (GRCm39) |
S535P |
probably damaging |
Het |
| Or2y6 |
T |
A |
11: 52,104,801 (GRCm39) |
N5I |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,360 (GRCm39) |
F106I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,200 (GRCm39) |
F3691L |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,637,229 (GRCm39) |
D282G |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,167,421 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
C |
11: 78,295,213 (GRCm39) |
T187A |
probably benign |
Het |
| Slco3a1 |
A |
C |
7: 74,204,311 (GRCm39) |
S10A |
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,975,435 (GRCm39) |
Y458C |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,145,813 (GRCm39) |
M1537V |
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 |
|
|
R1131:Ggt6
|
UTSW |
11 |
72,326,506 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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'- GTGGAACTGCTGGAGTCTAC -3'
(R):5'- ACATATGCCAGGGCTCTCTG -3'
Sequencing Primer
(F):5'- GGAACTGCTGGAGTCTACTCTTCAC -3'
(R):5'- TGTTGCCAGATGATTGAGCAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation