Incidental Mutation 'R6717:Ggt6'
ID |
529447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggt6
|
Ensembl Gene |
ENSMUSG00000040471 |
Gene Name |
gamma-glutamyltransferase 6 |
Synonyms |
9030405D14Rik |
MMRRC Submission |
044835-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6717 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
72326352-72329226 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 72328346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 244
(L244*)
|
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 |
probably null
Transcript: ENSMUST00000076443
AA Change: L282*
|
SMART Domains |
Protein: ENSMUSP00000075773 Gene: ENSMUSG00000040471 AA Change: L282*
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 null
Transcript: ENSMUST00000100903
AA Change: L244*
|
SMART Domains |
Protein: ENSMUSP00000098463 Gene: ENSMUSG00000040471 AA Change: L244*
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,153,946 (GRCm39) |
V621E |
probably damaging |
Het |
Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
Dhx9 |
A |
C |
1: 153,349,210 (GRCm39) |
|
probably null |
Het |
Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
Eif2b5 |
G |
T |
16: 20,324,033 (GRCm39) |
G459C |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,787,574 (GRCm39) |
V363A |
possibly damaging |
Het |
Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,452,317 (GRCm39) |
V432A |
probably benign |
Het |
Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
Slc2a8 |
A |
C |
2: 32,866,189 (GRCm39) |
M277R |
probably damaging |
Het |
Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
Tnk2 |
A |
G |
16: 32,489,687 (GRCm39) |
E322G |
probably damaging |
Het |
Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
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 |
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 |
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'- TAGATGCACCCCTGGCAAAC -3'
(R):5'- ACTGCTCACTGGGGTTTCAG -3'
Sequencing Primer
(F):5'- ACGCACTAGCCATCCAGGG -3'
(R):5'- AGCAGAGCTGGGTGTCCTG -3'
|
Posted On |
2018-08-01 |