Incidental Mutation 'R0842:Ggt6'
| ID |
77226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggt6
|
| Ensembl Gene |
ENSMUSG00000040471 |
| Gene Name |
gamma-glutamyltransferase 6 |
| Synonyms |
9030405D14Rik |
| MMRRC Submission |
039021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72326352-72329226 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 72328088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 158
(L158*)
|
| 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: L196*
|
| SMART Domains |
Protein: ENSMUSP00000075773
Gene: ENSMUSG00000040471
AA Change: L196*
| 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: L158*
|
| SMART Domains |
Protein: ENSMUSP00000098463
Gene: ENSMUSG00000040471
AA Change: L158*
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl8 |
C |
A |
9: 21,746,972 (GRCm39) |
Y53* |
probably null |
Het |
| Apbb1ip |
G |
A |
2: 22,757,678 (GRCm39) |
R432Q |
possibly damaging |
Het |
| Catsperb |
A |
T |
12: 101,429,307 (GRCm39) |
Q160L |
probably damaging |
Het |
| Cdhr18 |
G |
A |
14: 13,856,686 (GRCm38) |
S475L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,335,768 (GRCm39) |
Y410C |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,369,953 (GRCm39) |
G857S |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,125,400 (GRCm39) |
V1538E |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,540,833 (GRCm39) |
S2514P |
possibly damaging |
Het |
| Eme1 |
C |
T |
11: 94,541,700 (GRCm39) |
A41T |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fap |
A |
T |
2: 62,367,345 (GRCm39) |
W313R |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Herc2 |
A |
C |
7: 55,771,453 (GRCm39) |
I1072L |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,408,639 (GRCm39) |
N164S |
probably benign |
Het |
| Klrb1 |
A |
G |
6: 128,687,008 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
T |
A |
17: 68,793,957 (GRCm39) |
D320E |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,852,826 (GRCm39) |
Y2275* |
probably null |
Het |
| Map4k3 |
T |
C |
17: 80,913,412 (GRCm39) |
N611S |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,284 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
C |
13: 12,215,133 (GRCm39) |
Y864D |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,070,350 (GRCm39) |
A431V |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,778,350 (GRCm39) |
Q1369K |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,820,114 (GRCm39) |
D302V |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,649 (GRCm39) |
I176T |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,948,380 (GRCm39) |
T54I |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,616,574 (GRCm39) |
E281D |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,342 (GRCm39) |
D513G |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,263,382 (GRCm39) |
E83G |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,004,298 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,772 (GRCm39) |
L340P |
possibly damaging |
Het |
| Pou2af3 |
T |
C |
9: 51,183,668 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,796,355 (GRCm39) |
L364Q |
probably damaging |
Het |
| Rab1b |
A |
T |
19: 5,154,697 (GRCm39) |
I84N |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,638,087 (GRCm39) |
Y222C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,965,251 (GRCm39) |
V188A |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,426 (GRCm39) |
H107Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,575 (GRCm39) |
I335K |
possibly damaging |
Het |
| Thoc2l |
T |
A |
5: 104,667,066 (GRCm39) |
N529K |
possibly damaging |
Het |
| Thop1 |
C |
A |
10: 80,911,411 (GRCm39) |
T99K |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,235 (GRCm39) |
E429G |
possibly damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,488,465 (GRCm39) |
I645F |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,960 (GRCm39) |
R609S |
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 |
|
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'- GCCCTGAACCTCAGAGCTTCTAAC -3'
(R):5'- TATGGCAGAACAATGGACAGAGCCC -3'
Sequencing Primer
(F):5'- GCAAGACAGTGATTCTCTACCTG -3'
(R):5'- AATGGACAGAGCCCCTTTGTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation