Incidental Mutation 'R5148:Gss'
| ID |
395188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gss
|
| Ensembl Gene |
ENSMUSG00000027610 |
| Gene Name |
glutathione synthetase |
| Synonyms |
GS-A/GS-B |
| MMRRC Submission |
043262-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155563181-155592810 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 155573109 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 225
(N225K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078630
(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 |
possibly damaging
Transcript: ENSMUST00000079691
AA Change: N225K
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078630
Gene: ENSMUSG00000027610
AA Change: N225K
| 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
AA Change: N183K
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117266
Gene: ENSMUSG00000027610
AA Change: N183K
| 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 |
possibly damaging
Transcript: ENSMUST00000130881
AA Change: N156K
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135319
Gene: ENSMUSG00000027610
AA Change: N156K
| 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 |
probably benign
Transcript: ENSMUST00000155347
|
| SMART Domains |
Protein: ENSMUSP00000122662
Gene: ENSMUSG00000027610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GSH_synth_ATP
|
5 |
179 |
1.8e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157008
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176415
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
T |
3: 127,025,636 (GRCm38) |
|
probably null |
Het |
| Atf7 |
A |
G |
15: 102,547,173 (GRCm38) |
M252T |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,387,545 (GRCm38) |
D1027Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,265,983 (GRCm38) |
V667A |
probably benign |
Het |
| Cntf |
T |
C |
19: 12,764,004 (GRCm38) |
E164G |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,528,244 (GRCm38) |
|
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,457,823 (GRCm38) |
|
probably benign |
Het |
| Gm12790 |
C |
T |
4: 101,968,071 (GRCm38) |
V49I |
possibly damaging |
Het |
| Gm5444 |
C |
T |
13: 4,834,315 (GRCm38) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
T |
2: 132,534,190 (GRCm38) |
Y574* |
probably null |
Het |
| Il17rc |
G |
T |
6: 113,482,997 (GRCm38) |
A635S |
probably benign |
Het |
| Lhfpl5 |
T |
A |
17: 28,579,968 (GRCm38) |
D150E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,669,198 (GRCm38) |
L351I |
probably benign |
Het |
| Lrrc40 |
T |
G |
3: 158,054,569 (GRCm38) |
|
probably null |
Het |
| Ly6f |
A |
G |
15: 75,271,797 (GRCm38) |
T118A |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 16,142,226 (GRCm38) |
N1960D |
unknown |
Het |
| Map3k14 |
T |
C |
11: 103,239,332 (GRCm38) |
H253R |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,689,084 (GRCm38) |
L1025P |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 94,476,693 (GRCm38) |
G474W |
probably damaging |
Het |
| Olfr1162 |
G |
A |
2: 88,050,393 (GRCm38) |
T77I |
probably benign |
Het |
| Olfr1487 |
C |
A |
19: 13,619,510 (GRCm38) |
S116* |
probably null |
Het |
| Olfr894 |
T |
C |
9: 38,219,021 (GRCm38) |
I66T |
probably benign |
Het |
| Olr1 |
G |
T |
6: 129,493,609 (GRCm38) |
D198E |
probably benign |
Het |
| Pafah1b1 |
A |
T |
11: 74,684,452 (GRCm38) |
S209T |
probably damaging |
Het |
| Phf14 |
A |
T |
6: 11,961,642 (GRCm38) |
Y426F |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,704,158 (GRCm38) |
V855A |
probably benign |
Het |
| Pira2 |
T |
G |
7: 3,844,593 (GRCm38) |
R32S |
possibly damaging |
Het |
| Pnldc1 |
T |
C |
17: 12,892,789 (GRCm38) |
I344V |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,320,907 (GRCm38) |
V93A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,492,232 (GRCm38) |
L186F |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,158,987 (GRCm38) |
C303W |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 117,663,603 (GRCm38) |
N100Y |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,986,244 (GRCm38) |
L96Q |
probably damaging |
Het |
| Slc12a8 |
G |
A |
16: 33,624,918 (GRCm38) |
R448H |
probably benign |
Het |
| Snrpd1 |
T |
A |
18: 10,626,892 (GRCm38) |
V53E |
probably benign |
Het |
| Ssbp1 |
T |
C |
6: 40,477,949 (GRCm38) |
V114A |
possibly damaging |
Het |
| T |
A |
G |
17: 8,436,205 (GRCm38) |
E47G |
probably damaging |
Het |
| Tmem156 |
T |
C |
5: 65,073,768 (GRCm38) |
K189R |
probably benign |
Het |
| Trim47 |
G |
T |
11: 116,107,852 (GRCm38) |
Q314K |
possibly damaging |
Het |
| Vmn2r3 |
G |
T |
3: 64,278,826 (GRCm38) |
P146Q |
probably damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,556,594 (GRCm38) |
V273G |
probably damaging |
Het |
| Wrnip1 |
G |
T |
13: 32,806,856 (GRCm38) |
R366L |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,536,900 (GRCm38) |
H94L |
possibly damaging |
Het |
|
| Other mutations in Gss |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Gss
|
APN |
2 |
155,581,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01737:Gss
|
APN |
2 |
155,567,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01783:Gss
|
APN |
2 |
155,571,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02329:Gss
|
APN |
2 |
155,567,853 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02386:Gss
|
APN |
2 |
155,573,170 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02948:Gss
|
APN |
2 |
155,577,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Gss
|
UTSW |
2 |
155,578,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0230:Gss
|
UTSW |
2 |
155,578,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0446:Gss
|
UTSW |
2 |
155,567,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0931:Gss
|
UTSW |
2 |
155,567,689 (GRCm38) |
intron |
probably benign |
|
|
R1396:Gss
|
UTSW |
2 |
155,567,721 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2896:Gss
|
UTSW |
2 |
155,564,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2986:Gss
|
UTSW |
2 |
155,587,443 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4852:Gss
|
UTSW |
2 |
155,564,865 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6017:Gss
|
UTSW |
2 |
155,587,465 (GRCm38) |
missense |
probably benign |
|
|
R6574:Gss
|
UTSW |
2 |
155,582,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6868:Gss
|
UTSW |
2 |
155,567,812 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8274:Gss
|
UTSW |
2 |
155,587,504 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8510:Gss
|
UTSW |
2 |
155,567,824 (GRCm38) |
nonsense |
probably null |
|
|
R8801:Gss
|
UTSW |
2 |
155,564,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8903:Gss
|
UTSW |
2 |
155,578,359 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9038:Gss
|
UTSW |
2 |
155,564,874 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCTCTTAATCCAGCTGTC -3'
(R):5'- GCCAGCAGGACTACTTGAGAAG -3'
Sequencing Primer
(F):5'- GGGGATGCTTACATAAACAGCCTTC -3'
(R):5'- GACTACTTGAGAAGCTGTGTTCTCAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation