Incidental Mutation 'IGL01783:Gss'
| ID |
154189 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gss
|
| Ensembl Gene |
ENSMUSG00000027610 |
| Gene Name |
glutathione synthetase |
| Synonyms |
GS-A/GS-B |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01783
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
155405101-155434730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155413479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 196
(Y196C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065973]
[ENSMUST00000079691]
[ENSMUST00000126322]
[ENSMUST00000130881]
|
| AlphaFold |
P51855 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065973
|
| SMART Domains |
Protein: ENSMUSP00000068776
Gene: ENSMUSG00000027605
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
108 |
575 |
4.8e-98 |
PFAM |
|
Pfam:AMP-binding_C
|
583 |
660 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079691
AA Change: Y265C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: Y265C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
12 |
472 |
6.7e-131 |
PFAM |
|
Pfam:GSH_synthase
|
204 |
302 |
2.5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126322
|
| SMART Domains |
Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
1 |
197 |
1.2e-63 |
PFAM |
|
Pfam:GSH_synthase
|
160 |
200 |
3.1e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130881
AA Change: Y196C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
AA Change: Y196C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
1 |
404 |
9.2e-130 |
PFAM |
|
Pfam:GSH_synthase
|
133 |
233 |
9e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153975
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175993
AA Change: Y36C
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation all die before E7.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,900 (GRCm39) |
Y166H |
possibly damaging |
Het |
| Abi3bp |
G |
A |
16: 56,353,332 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
T |
C |
3: 30,652,624 (GRCm39) |
T157A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,974,798 (GRCm39) |
K68R |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,568,282 (GRCm39) |
|
probably null |
Het |
| Ano6 |
T |
C |
15: 95,860,143 (GRCm39) |
I755T |
possibly damaging |
Het |
| Basp1 |
T |
C |
15: 25,364,953 (GRCm39) |
N15D |
unknown |
Het |
| Bod1l |
T |
C |
5: 41,966,055 (GRCm39) |
N2670S |
probably benign |
Het |
| Btbd3 |
T |
A |
2: 138,125,656 (GRCm39) |
I280N |
probably damaging |
Het |
| Cdh16 |
T |
A |
8: 105,344,488 (GRCm39) |
Y17F |
probably damaging |
Het |
| Clmp |
G |
T |
9: 40,693,703 (GRCm39) |
G307W |
possibly damaging |
Het |
| Clrn2 |
C |
A |
5: 45,617,503 (GRCm39) |
Q125K |
probably benign |
Het |
| Ctnna3 |
C |
T |
10: 63,656,248 (GRCm39) |
A276V |
possibly damaging |
Het |
| Dram2 |
A |
T |
3: 106,480,972 (GRCm39) |
T172S |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,118,822 (GRCm39) |
|
probably benign |
Het |
| Ezr |
T |
C |
17: 7,009,888 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,275,257 (GRCm39) |
D352E |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,198,743 (GRCm39) |
|
probably null |
Het |
| Gpr18 |
T |
A |
14: 122,149,789 (GRCm39) |
M79L |
probably benign |
Het |
| Gtpbp1 |
T |
C |
15: 79,600,398 (GRCm39) |
S444P |
probably damaging |
Het |
| Hecw1 |
C |
T |
13: 14,452,878 (GRCm39) |
R712K |
probably damaging |
Het |
| Helz2 |
T |
G |
2: 180,874,674 (GRCm39) |
D1940A |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,051 (GRCm39) |
V4166E |
possibly damaging |
Het |
| Klkb1 |
T |
C |
8: 45,729,428 (GRCm39) |
Y297C |
probably damaging |
Het |
| Krt75 |
T |
A |
15: 101,473,364 (GRCm39) |
I537F |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,202,584 (GRCm39) |
T1176S |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,818,745 (GRCm39) |
L413P |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or10ag57 |
G |
T |
2: 87,218,182 (GRCm39) |
L44F |
probably benign |
Het |
| Or4c11 |
T |
C |
2: 88,695,186 (GRCm39) |
L79P |
probably damaging |
Het |
| Or5t7 |
A |
G |
2: 86,507,425 (GRCm39) |
V84A |
probably benign |
Het |
| Piwil1 |
A |
G |
5: 128,820,890 (GRCm39) |
N272D |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 45,009,481 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
G |
19: 30,602,089 (GRCm39) |
V389A |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,611,767 (GRCm39) |
S344R |
probably damaging |
Het |
| Serpina3j |
T |
C |
12: 104,284,750 (GRCm39) |
L309P |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,708,688 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,759 (GRCm39) |
A205S |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,240,045 (GRCm39) |
Q235L |
possibly damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,305 (GRCm39) |
T159A |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,565,596 (GRCm39) |
P119T |
possibly damaging |
Het |
| Tmem59l |
T |
C |
8: 70,939,874 (GRCm39) |
T32A |
probably damaging |
Het |
| Trmt13 |
G |
A |
3: 116,376,561 (GRCm39) |
R277* |
probably null |
Het |
| Zfp316 |
A |
G |
5: 143,248,631 (GRCm39) |
F205S |
unknown |
Het |
| Zfp418 |
G |
T |
7: 7,184,448 (GRCm39) |
W137L |
possibly damaging |
Het |
| Zp3r |
A |
T |
1: 130,526,603 (GRCm39) |
V200D |
possibly damaging |
Het |
|
| Other mutations in Gss |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Gss
|
APN |
2 |
155,423,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01737:Gss
|
APN |
2 |
155,409,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02329:Gss
|
APN |
2 |
155,409,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02386:Gss
|
APN |
2 |
155,415,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02948:Gss
|
APN |
2 |
155,419,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Gss
|
UTSW |
2 |
155,420,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Gss
|
UTSW |
2 |
155,420,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:Gss
|
UTSW |
2 |
155,409,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0931:Gss
|
UTSW |
2 |
155,409,609 (GRCm39) |
intron |
probably benign |
|
|
R1396:Gss
|
UTSW |
2 |
155,409,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2896:Gss
|
UTSW |
2 |
155,406,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2986:Gss
|
UTSW |
2 |
155,429,363 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4852:Gss
|
UTSW |
2 |
155,406,785 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5148:Gss
|
UTSW |
2 |
155,415,029 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6017:Gss
|
UTSW |
2 |
155,429,385 (GRCm39) |
missense |
probably benign |
|
|
R6574:Gss
|
UTSW |
2 |
155,423,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Gss
|
UTSW |
2 |
155,409,732 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8274:Gss
|
UTSW |
2 |
155,429,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8510:Gss
|
UTSW |
2 |
155,409,744 (GRCm39) |
nonsense |
probably null |
|
|
R8801:Gss
|
UTSW |
2 |
155,406,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Gss
|
UTSW |
2 |
155,420,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9038:Gss
|
UTSW |
2 |
155,406,794 (GRCm39) |
missense |
|
|
|
| Posted On |
2014-02-04 |
Incidental Mutation