Incidental Mutation 'R4639:Gsr'
| ID |
350831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsr
|
| Ensembl Gene |
ENSMUSG00000031584 |
| Gene Name |
glutathione reductase |
| Synonyms |
D8Ertd238e, Gr-1, Gr1 |
| MMRRC Submission |
041901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R4639 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
34143266-34188190 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34187284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 488
(I488M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033992]
|
| AlphaFold |
P47791 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033992
AA Change: I488M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584
AA Change: I488M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
43 |
368 |
1.2e-73 |
PFAM |
|
Pfam:Pyr_redox
|
211 |
292 |
1.7e-21 |
PFAM |
|
Pfam:Pyr_redox_dim
|
389 |
500 |
1.6e-38 |
PFAM |
|
| Meta Mutation Damage Score |
0.7384 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
PHENOTYPE: A homozygous mutation disrupting this gene between exon 1-2 results in a decreased retinal artery-to-vein ratio. Another small deletion of exons 2-5 has no phenotypic effect. Electrophoretic alleles designated a (C57BL/6, CE) vs. allele b (SJL, SWR) are known. [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 |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
A |
C |
12: 5,068,053 (GRCm39) |
H1017P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,813,317 (GRCm39) |
V943D |
probably benign |
Het |
| Babam1 |
C |
T |
8: 71,856,951 (GRCm39) |
A304V |
probably damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,220,413 (GRCm39) |
A584D |
probably damaging |
Het |
| Ddx21 |
A |
T |
10: 62,427,616 (GRCm39) |
L429* |
probably null |
Het |
| Dsp |
T |
C |
13: 38,380,760 (GRCm39) |
Y2502H |
probably damaging |
Het |
| Eaf1 |
G |
A |
14: 31,226,333 (GRCm39) |
D206N |
probably benign |
Het |
| Fam43b |
T |
A |
4: 138,123,278 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,044,889 (GRCm39) |
K34I |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,056,525 (GRCm39) |
Y191H |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm10479 |
A |
G |
12: 20,483,343 (GRCm39) |
T55A |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,232,377 (GRCm39) |
M517T |
possibly damaging |
Het |
| Naip1 |
C |
G |
13: 100,580,791 (GRCm39) |
G152A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,565,234 (GRCm39) |
T449I |
probably benign |
Het |
| Nin |
A |
G |
12: 70,085,375 (GRCm39) |
S1619P |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,175,969 (GRCm39) |
M1I |
probably null |
Het |
| Or5m9b |
A |
G |
2: 85,905,923 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,479,439 (GRCm39) |
T448A |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,519,930 (GRCm39) |
|
probably null |
Het |
| Pnp |
C |
T |
14: 51,188,380 (GRCm39) |
R207* |
probably null |
Het |
| Ppl |
A |
G |
16: 4,907,310 (GRCm39) |
V995A |
probably damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,276,406 (GRCm39) |
T33I |
probably damaging |
Het |
| Pramel20 |
C |
T |
4: 143,298,467 (GRCm39) |
R137C |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rgs16 |
G |
T |
1: 153,617,781 (GRCm39) |
C97F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,444,717 (GRCm39) |
D2254E |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,381,597 (GRCm39) |
M495V |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,082,724 (GRCm39) |
I1967V |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,800 (GRCm39) |
D13G |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,205,011 (GRCm39) |
I2V |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,638,410 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,505,279 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gsr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02471:Gsr
|
APN |
8 |
34,172,612 (GRCm39) |
splice site |
probably benign |
|
|
IGL02481:Gsr
|
APN |
8 |
34,175,569 (GRCm39) |
splice site |
probably benign |
|
|
IGL02941:Gsr
|
APN |
8 |
34,179,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03242:Gsr
|
APN |
8 |
34,175,627 (GRCm39) |
missense |
probably benign |
|
|
IGL03293:Gsr
|
APN |
8 |
34,185,024 (GRCm39) |
splice site |
probably benign |
|
|
R0208:Gsr
|
UTSW |
8 |
34,179,383 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0490:Gsr
|
UTSW |
8 |
34,161,540 (GRCm39) |
splice site |
probably benign |
|
|
R0492:Gsr
|
UTSW |
8 |
34,171,603 (GRCm39) |
splice site |
probably benign |
|
|
R0524:Gsr
|
UTSW |
8 |
34,159,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1104:Gsr
|
UTSW |
8 |
34,159,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Gsr
|
UTSW |
8 |
34,170,288 (GRCm39) |
splice site |
probably null |
|
|
R2507:Gsr
|
UTSW |
8 |
34,170,316 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2508:Gsr
|
UTSW |
8 |
34,170,316 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3726:Gsr
|
UTSW |
8 |
34,161,565 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4573:Gsr
|
UTSW |
8 |
34,183,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4623:Gsr
|
UTSW |
8 |
34,170,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4713:Gsr
|
UTSW |
8 |
34,170,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4717:Gsr
|
UTSW |
8 |
34,183,886 (GRCm39) |
nonsense |
probably null |
|
|
R4992:Gsr
|
UTSW |
8 |
34,183,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5099:Gsr
|
UTSW |
8 |
34,161,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Gsr
|
UTSW |
8 |
34,183,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7046:Gsr
|
UTSW |
8 |
34,185,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Gsr
|
UTSW |
8 |
34,159,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Gsr
|
UTSW |
8 |
34,183,936 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9362:Gsr
|
UTSW |
8 |
34,179,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCGTACTTACACTTACTTTGG -3'
(R):5'- ACTTGGAATGGGGCCAAAGC -3'
Sequencing Primer
(F):5'- GATATGGAGACCTGACGTCCCTAATC -3'
(R):5'- AGATACATAAGTTCTTCTGTGCGTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation