Incidental Mutation 'IGL01737:Gss'
ID |
105736 |
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 # |
IGL01737
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
155405101-155434730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155409726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 77
(K77E)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065973]
[ENSMUST00000079691]
[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: K306E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078630 Gene: ENSMUSG00000027610 AA Change: K306E
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 |
possibly damaging
Transcript: ENSMUST00000130881
AA Change: K237E
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135319 Gene: ENSMUSG00000027610 AA Change: K237E
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: ENSMUST00000153975
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175993
AA Change: K77E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
G |
13: 104,526,643 (GRCm39) |
I524V |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,935,407 (GRCm39) |
M336K |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,990,783 (GRCm39) |
F763Y |
probably damaging |
Het |
Bdnf |
A |
G |
2: 109,554,100 (GRCm39) |
Y158C |
probably damaging |
Het |
Ccdc92 |
T |
C |
5: 124,912,920 (GRCm39) |
E203G |
probably damaging |
Het |
Cyp2j12 |
T |
C |
4: 96,010,895 (GRCm39) |
*72W |
probably null |
Het |
Def6 |
G |
T |
17: 28,442,701 (GRCm39) |
R288L |
possibly damaging |
Het |
Foxn1 |
T |
G |
11: 78,251,732 (GRCm39) |
S500R |
possibly damaging |
Het |
Habp2 |
G |
A |
19: 56,304,739 (GRCm39) |
G410D |
probably benign |
Het |
Krt36 |
A |
T |
11: 99,994,946 (GRCm39) |
C209S |
possibly damaging |
Het |
Mmrn1 |
T |
C |
6: 60,954,145 (GRCm39) |
F809L |
probably benign |
Het |
Mptx2 |
C |
A |
1: 173,102,408 (GRCm39) |
V94F |
probably damaging |
Het |
Myh4 |
G |
T |
11: 67,134,245 (GRCm39) |
|
probably benign |
Het |
N4bp2l1 |
G |
T |
5: 150,517,781 (GRCm39) |
H41N |
possibly damaging |
Het |
Ndnf |
T |
A |
6: 65,680,539 (GRCm39) |
S273T |
probably benign |
Het |
Nt5c1b |
A |
T |
12: 10,440,108 (GRCm39) |
Y624F |
possibly damaging |
Het |
Prss8 |
C |
T |
7: 127,525,752 (GRCm39) |
V256M |
probably damaging |
Het |
Ramp1 |
T |
C |
1: 91,150,821 (GRCm39) |
|
probably benign |
Het |
Sf3b2 |
A |
G |
19: 5,329,866 (GRCm39) |
|
probably benign |
Het |
Tfdp2 |
G |
A |
9: 96,182,465 (GRCm39) |
R235Q |
possibly damaging |
Het |
Tle1 |
C |
T |
4: 72,116,058 (GRCm39) |
|
probably benign |
Het |
Tmprss11e |
A |
G |
5: 86,867,593 (GRCm39) |
V159A |
probably damaging |
Het |
Trim12c |
A |
G |
7: 103,997,269 (GRCm39) |
C96R |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,244,931 (GRCm39) |
D1256G |
probably benign |
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 |
IGL01783:Gss
|
APN |
2 |
155,413,479 (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 |
2014-01-21 |