Incidental Mutation 'R2359:Ggt6'
ID |
247078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggt6
|
Ensembl Gene |
ENSMUSG00000040471 |
Gene Name |
gamma-glutamyltransferase 6 |
Synonyms |
9030405D14Rik |
MMRRC Submission |
040341-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2359 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
72326352-72329226 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72328377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 254
(L254F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098463
(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: L292F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000075773 Gene: ENSMUSG00000040471 AA Change: L292F
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: L254F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000098463 Gene: ENSMUSG00000040471 AA Change: L254F
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
95% (41/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam24 |
A |
G |
8: 41,133,984 (GRCm39) |
E484G |
possibly damaging |
Het |
Akr1c20 |
C |
T |
13: 4,573,276 (GRCm39) |
G13D |
probably damaging |
Het |
Alkbh3 |
T |
C |
2: 93,838,458 (GRCm39) |
T38A |
probably benign |
Het |
Anxa9 |
A |
C |
3: 95,210,062 (GRCm39) |
L99R |
probably damaging |
Het |
Arfgef2 |
A |
T |
2: 166,702,539 (GRCm39) |
Y826F |
probably damaging |
Het |
Arid2 |
G |
T |
15: 96,259,759 (GRCm39) |
L306F |
probably damaging |
Het |
Ccdc141 |
C |
T |
2: 77,000,746 (GRCm39) |
V29M |
probably damaging |
Het |
Cd55b |
A |
G |
1: 130,345,858 (GRCm39) |
S187P |
probably damaging |
Het |
Cep63 |
A |
C |
9: 102,471,763 (GRCm39) |
L526V |
possibly damaging |
Het |
Chtf8 |
G |
T |
8: 107,612,048 (GRCm39) |
|
probably null |
Het |
Clca4b |
T |
A |
3: 144,631,003 (GRCm39) |
S286C |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,481,873 (GRCm39) |
V1080A |
probably benign |
Het |
Csf2rb2 |
C |
T |
15: 78,176,976 (GRCm39) |
V165I |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,766,398 (GRCm39) |
V399E |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,951,599 (GRCm39) |
S659P |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,630,106 (GRCm39) |
S967P |
possibly damaging |
Het |
Efr3b |
G |
A |
12: 4,030,136 (GRCm39) |
|
probably benign |
Het |
Epha8 |
A |
G |
4: 136,673,343 (GRCm39) |
I147T |
probably damaging |
Het |
Fbxo48 |
G |
A |
11: 16,903,602 (GRCm39) |
W76* |
probably null |
Het |
Gm4204 |
T |
A |
1: 135,159,927 (GRCm39) |
|
noncoding transcript |
Het |
Golph3l |
A |
G |
3: 95,499,275 (GRCm39) |
|
probably null |
Het |
Gtf2h3 |
A |
G |
5: 124,728,939 (GRCm39) |
K166R |
probably damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,661,003 (GRCm39) |
|
probably null |
Het |
Hyi |
A |
G |
4: 118,217,538 (GRCm39) |
R79G |
probably benign |
Het |
Igbp1b |
G |
A |
6: 138,634,713 (GRCm39) |
P244S |
probably damaging |
Het |
Ipo8 |
G |
A |
6: 148,717,975 (GRCm39) |
|
probably benign |
Het |
Larp4b |
C |
A |
13: 9,208,199 (GRCm39) |
T391K |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,256,057 (GRCm39) |
V1133A |
probably benign |
Het |
Med13 |
C |
T |
11: 86,181,861 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,156,379 (GRCm39) |
|
probably benign |
Het |
Neurl1b |
T |
C |
17: 26,660,569 (GRCm39) |
F299L |
probably benign |
Het |
Nosip |
G |
A |
7: 44,723,450 (GRCm39) |
A39T |
possibly damaging |
Het |
Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
Ntn1 |
G |
A |
11: 68,276,438 (GRCm39) |
T170M |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,572,396 (GRCm39) |
L1079Q |
probably damaging |
Het |
Prxl2c |
A |
T |
13: 64,460,465 (GRCm39) |
C12S |
probably benign |
Het |
Rab30 |
A |
G |
7: 92,485,005 (GRCm39) |
D129G |
possibly damaging |
Het |
Rwdd2b |
C |
T |
16: 87,233,809 (GRCm39) |
S97N |
probably benign |
Het |
Slitrk3 |
T |
G |
3: 72,956,678 (GRCm39) |
D698A |
possibly damaging |
Het |
Smarcd2 |
T |
C |
11: 106,157,990 (GRCm39) |
M93V |
probably benign |
Het |
Tmprss4 |
A |
G |
9: 45,097,130 (GRCm39) |
V45A |
probably benign |
Het |
Vmn1r22 |
A |
T |
6: 57,877,974 (GRCm39) |
M1K |
probably null |
Het |
Vps13a |
A |
G |
19: 16,630,043 (GRCm39) |
|
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 |
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 |
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'- GGCTTTGAGGTAGATGCACC -3'
(R):5'- ACTGCTCACTGGGGTTTCAG -3'
Sequencing Primer
(F):5'- CTTTGAGGTAGATGCACCCCTGG -3'
(R):5'- CACTGGGGTTTCAGCAGTTTGC -3'
|
Posted On |
2014-10-30 |