Incidental Mutation 'IGL03097:Ggt6'
| ID |
453228 |
| 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 # |
IGL03097 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72326352-72329226 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72327639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 148
(H148Q)
|
| 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: H148Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: H148Q
| 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 |
probably benign
Transcript: ENSMUST00000100903
|
| SMART Domains |
Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
| 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
|
| Meta Mutation Damage Score |
0.0972 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
90% (46/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
T |
C |
16: 4,235,930 (GRCm39) |
T257A |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Ak5 |
A |
G |
3: 152,366,151 (GRCm39) |
|
probably null |
Het |
| Akap3 |
A |
G |
6: 126,843,379 (GRCm39) |
K666R |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,657 (GRCm39) |
N1158S |
probably benign |
Het |
| Atp23 |
A |
T |
10: 126,723,556 (GRCm39) |
V182E |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,422,462 (GRCm39) |
D898G |
probably benign |
Het |
| Bnip3 |
T |
C |
7: 138,496,208 (GRCm39) |
N140S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,506 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,610,118 (GRCm39) |
I796N |
probably damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,316,678 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
T |
A |
9: 44,882,061 (GRCm39) |
D165V |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,676 (GRCm39) |
T4A |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
C |
T |
6: 106,330,673 (GRCm39) |
T97M |
probably benign |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Crim1 |
C |
T |
17: 78,675,227 (GRCm39) |
T812I |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,995,127 (GRCm39) |
T2636K |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 43,993,941 (GRCm39) |
Y200* |
probably null |
Het |
| Dlg4 |
T |
G |
11: 69,933,028 (GRCm39) |
I478S |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,107,105 (GRCm39) |
N505K |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,043,049 (GRCm39) |
W323R |
probably damaging |
Het |
| Ehhadh |
T |
A |
16: 21,581,520 (GRCm39) |
I491L |
probably benign |
Het |
| Gstm3 |
T |
C |
3: 107,876,117 (GRCm39) |
D25G |
probably benign |
Het |
| Gtf2h3 |
G |
A |
5: 124,740,231 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
A |
C |
3: 3,716,674 (GRCm39) |
E281A |
probably damaging |
Het |
| Impg1 |
T |
G |
9: 80,287,234 (GRCm39) |
E404A |
possibly damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,715 (GRCm39) |
V432A |
probably benign |
Het |
| Map3k2 |
T |
G |
18: 32,333,070 (GRCm39) |
D81E |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
| Ms4a1 |
G |
T |
19: 11,230,556 (GRCm39) |
T215N |
probably benign |
Het |
| Pam16 |
T |
C |
16: 4,434,458 (GRCm39) |
I111V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,166,719 (GRCm39) |
T720A |
probably damaging |
Het |
| Pgap2 |
T |
C |
7: 101,885,434 (GRCm39) |
L100P |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,914,590 (GRCm39) |
S686C |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,115,679 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,333,824 (GRCm39) |
|
probably null |
Het |
| Rptn |
G |
A |
3: 93,304,680 (GRCm39) |
G671D |
probably damaging |
Het |
| Slc6a21 |
C |
T |
7: 44,937,592 (GRCm39) |
Q628* |
probably null |
Het |
| Smg6 |
T |
G |
11: 74,823,252 (GRCm39) |
I708S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
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 |
|
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 |
|
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'- AGAGGAAACTTGGGCTCTGTG -3'
(R):5'- TACTCAAGACTAGGCCTGGTG -3'
Sequencing Primer
(F):5'- ATTATCAGCCCGGCAGGTCAG -3'
(R):5'- ACTAGGCCTGGTGCTCAGATC -3'
|
| Posted On |
2017-01-31 |
Incidental Mutation