Incidental Mutation 'R6574:Gss'
ID |
523339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gss
|
Ensembl Gene |
ENSMUSG00000027610 |
Gene Name |
glutathione synthetase |
Synonyms |
GS-A/GS-B |
MMRRC Submission |
044698-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6574 (G1)
|
Quality Score |
143.008 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155405101-155434730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 155423931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 51
(T51K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122662
(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: T51K
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078630 Gene: ENSMUSG00000027610 AA Change: T51K
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: T9K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117266 Gene: ENSMUSG00000027610 AA Change: T9K
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 benign
Transcript: ENSMUST00000130881
|
SMART Domains |
Protein: ENSMUSP00000135319 Gene: ENSMUSG00000027610
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: ENSMUST00000153975
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155347
AA Change: T51K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122662 Gene: ENSMUSG00000027610 AA Change: T51K
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
A |
C |
3: 146,356,613 (GRCm39) |
D98E |
probably benign |
Het |
Ackr3 |
T |
C |
1: 90,141,790 (GRCm39) |
I83T |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
Ano1 |
A |
C |
7: 144,161,653 (GRCm39) |
|
probably null |
Het |
Arap1 |
T |
A |
7: 101,053,208 (GRCm39) |
I532N |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,991,153 (GRCm39) |
V1533A |
possibly damaging |
Het |
Ccdc83 |
T |
C |
7: 89,875,885 (GRCm39) |
S329G |
possibly damaging |
Het |
Ccno |
T |
A |
13: 113,124,719 (GRCm39) |
D96E |
probably benign |
Het |
Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
Degs1 |
T |
C |
1: 182,106,638 (GRCm39) |
Y207C |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,495,693 (GRCm39) |
|
probably null |
Het |
Dnah9 |
C |
T |
11: 66,059,107 (GRCm39) |
A63T |
probably benign |
Het |
Eif4e1b |
T |
C |
13: 54,932,711 (GRCm39) |
F100S |
probably damaging |
Het |
Eps8 |
A |
T |
6: 137,460,596 (GRCm39) |
Y722* |
probably null |
Het |
Etfa |
A |
T |
9: 55,402,910 (GRCm39) |
I96N |
probably damaging |
Het |
Flt4 |
A |
G |
11: 49,516,199 (GRCm39) |
T101A |
probably benign |
Het |
Gabra4 |
A |
G |
5: 71,781,268 (GRCm39) |
I381T |
probably benign |
Het |
Gria2 |
A |
G |
3: 80,596,603 (GRCm39) |
V821A |
probably damaging |
Het |
Igkv13-84 |
C |
A |
6: 68,916,977 (GRCm39) |
Y91* |
probably null |
Het |
Iqcb1 |
A |
T |
16: 36,691,863 (GRCm39) |
Q487H |
probably damaging |
Het |
Itga8 |
G |
A |
2: 12,234,972 (GRCm39) |
H429Y |
probably benign |
Het |
Myo1c |
T |
G |
11: 75,547,124 (GRCm39) |
|
probably benign |
Het |
Odad2 |
C |
A |
18: 7,129,394 (GRCm39) |
|
probably null |
Het |
Pcdhga5 |
T |
C |
18: 37,828,434 (GRCm39) |
L294P |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,558,134 (GRCm39) |
L271P |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,549,654 (GRCm39) |
D290G |
probably damaging |
Het |
Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,173,533 (GRCm39) |
D425G |
probably benign |
Het |
Ppp2r3d |
G |
A |
9: 101,071,584 (GRCm39) |
P678L |
probably benign |
Het |
Ptbp2 |
T |
G |
3: 119,541,596 (GRCm39) |
Q147P |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,724,692 (GRCm39) |
S15P |
possibly damaging |
Het |
Slc25a10 |
T |
C |
11: 120,387,903 (GRCm39) |
F199L |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,705,197 (GRCm39) |
N801S |
probably damaging |
Het |
Sucnr1 |
T |
C |
3: 59,994,020 (GRCm39) |
Y183H |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,063,086 (GRCm39) |
D520G |
possibly damaging |
Het |
Trgc3 |
G |
T |
13: 19,445,293 (GRCm39) |
R80S |
probably benign |
Het |
Trrap |
G |
T |
5: 144,752,360 (GRCm39) |
|
probably null |
Het |
Tubgcp5 |
C |
T |
7: 55,473,331 (GRCm39) |
P803L |
probably benign |
Het |
Ubash3a |
A |
T |
17: 31,451,370 (GRCm39) |
Q423L |
probably damaging |
Het |
Ucp1 |
G |
A |
8: 84,020,718 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
G |
T |
17: 18,476,421 (GRCm39) |
N425K |
probably damaging |
Het |
Vps52 |
A |
G |
17: 34,181,452 (GRCm39) |
M418V |
probably null |
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 |
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 |
|
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCACCAGGTTAACTTACACAG -3'
(R):5'- ACCTGAAGCTCCATTGTACCC -3'
Sequencing Primer
(F):5'- AATTCATGGCTCCCCAGC -3'
(R):5'- GAAGCTCCATTGTACCCTTGCTTG -3'
|
Posted On |
2018-06-22 |