Incidental Mutation 'R0931:Gss'
| ID |
80859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gss
|
| Ensembl Gene |
ENSMUSG00000027610 |
| Gene Name |
glutathione synthetase |
| Synonyms |
GS-A/GS-B |
| MMRRC Submission |
039075-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155405101-155434730 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 155409609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029135]
[ENSMUST00000065973]
[ENSMUST00000079691]
[ENSMUST00000130881]
|
| AlphaFold |
P51855 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029135
|
| SMART Domains |
Protein: ENSMUSP00000029135
Gene: ENSMUSG00000027605
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
108 |
575 |
1.9e-96 |
PFAM |
|
Pfam:AMP-binding_C
|
583 |
661 |
2.4e-21 |
PFAM |
|
| 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 benign
Transcript: ENSMUST00000079691
|
| SMART Domains |
Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
| 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: 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: ENSMUST00000140860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153975
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175993
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,168,084 (GRCm39) |
A476T |
probably benign |
Het |
| Ajm1 |
T |
C |
2: 25,468,501 (GRCm39) |
E470G |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,339 (GRCm39) |
S118P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,728,041 (GRCm39) |
T85A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,566,530 (GRCm39) |
L824P |
probably damaging |
Het |
| Ccr1 |
C |
A |
9: 123,763,827 (GRCm39) |
K234N |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,235,757 (GRCm39) |
R203G |
probably damaging |
Het |
| Col8a1 |
A |
G |
16: 57,448,931 (GRCm39) |
I193T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,552,070 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
T |
C |
9: 54,675,717 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cspp1 |
A |
T |
1: 10,174,511 (GRCm39) |
R655W |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,287,818 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,772 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,771,921 (GRCm39) |
S583P |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,921,676 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,550 (GRCm39) |
S552P |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,543,751 (GRCm39) |
|
probably benign |
Het |
| Hdhd3 |
G |
A |
4: 62,417,757 (GRCm39) |
R140* |
probably null |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,142 (GRCm39) |
S360G |
possibly damaging |
Het |
| Klk1b4 |
T |
C |
7: 43,860,480 (GRCm39) |
L166P |
probably damaging |
Het |
| Klri1 |
A |
T |
6: 129,674,381 (GRCm39) |
|
probably benign |
Het |
| Mettl27 |
T |
C |
5: 134,963,285 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,675,354 (GRCm39) |
H193L |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,115 (GRCm39) |
|
probably benign |
Het |
| Or10ac1 |
C |
A |
6: 42,515,020 (GRCm39) |
R312L |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,736 (GRCm39) |
Y62* |
probably null |
Het |
| Papolg |
A |
G |
11: 23,832,257 (GRCm39) |
I177T |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,238 (GRCm39) |
V220A |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,341 (GRCm39) |
L234P |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,434,457 (GRCm39) |
M610K |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,484,047 (GRCm39) |
F3930S |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,440,944 (GRCm39) |
V997I |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,660,945 (GRCm39) |
|
probably benign |
Het |
| Ssu2 |
C |
A |
6: 112,361,359 (GRCm39) |
L32F |
probably damaging |
Het |
| Taar1 |
A |
T |
10: 23,797,181 (GRCm39) |
N293I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,611,846 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,325 (GRCm39) |
M389V |
possibly damaging |
Het |
| Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
| Zfp324 |
A |
G |
7: 12,700,185 (GRCm39) |
I15V |
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 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATCACCATTGCTGAGGGAGTTG -3'
(R):5'- TGCCAAGTGTCCAGACATTGCC -3'
Sequencing Primer
(F):5'- gctcttaccttgatgataatggatg -3'
(R):5'- GTGTCCAGACATTGCCATACAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation