Incidental Mutation 'IGL00959:Gss'
ID |
26968 |
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 # |
IGL00959
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
155405101-155434730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155423871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 2
(D2V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065973]
[ENSMUST00000079691]
[ENSMUST00000126322]
[ENSMUST00000130881]
[ENSMUST00000155347]
|
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: D71V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078630 Gene: ENSMUSG00000027610 AA Change: D71V
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 damaging
Transcript: ENSMUST00000126322
AA Change: D29V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117266 Gene: ENSMUSG00000027610 AA Change: D29V
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: D2V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135319 Gene: ENSMUSG00000027610 AA Change: D2V
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: ENSMUST00000137305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153975
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155347
AA Change: D71V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122662 Gene: ENSMUSG00000027610 AA Change: D71V
Domain | Start | End | E-Value | Type |
Pfam:GSH_synth_ATP
|
5 |
179 |
1.8e-64 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176415
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157008
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
Bmpr2 |
A |
T |
1: 59,854,474 (GRCm39) |
I108F |
possibly damaging |
Het |
Cflar |
G |
A |
1: 58,768,321 (GRCm39) |
|
probably null |
Het |
Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
T |
14: 65,314,361 (GRCm39) |
V274I |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,419,739 (GRCm39) |
D548N |
probably damaging |
Het |
Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,454,887 (GRCm39) |
|
probably null |
Het |
Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
Slc28a1 |
T |
C |
7: 80,818,816 (GRCm39) |
|
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,988,634 (GRCm39) |
Y42C |
probably damaging |
Het |
Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
probably damaging |
Het |
|
Other mutations in Gss |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01737:Gss
|
APN |
2 |
155,409,726 (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 |
2013-04-17 |