Incidental Mutation 'IGL02059:Gclc'
| ID |
185346 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gclc
|
| Ensembl Gene |
ENSMUSG00000032350 |
| Gene Name |
glutamate-cysteine ligase, catalytic subunit |
| Synonyms |
D9Wsu168e, gamma GCS-HS, Glclc, GLCL-H |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02059
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
77661817-77701767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 77695098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 403
(S403A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034905]
|
| AlphaFold |
P97494 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034905
AA Change: S403A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034905
Gene: ENSMUSG00000032350
AA Change: S403A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCS
|
236 |
608 |
1.3e-185 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous mutant mice are embryonic lethal. One model shows lethality before E13 while another shows lethality between E7.5-E8.5. In this second model, embryos are arrested at the egg cylinder stage, fail to gastrulate, do not form mesoderm, and exhibitincreased apoptosis. [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 |
|---|
| Abca9 |
A |
C |
11: 110,051,220 (GRCm39) |
|
probably benign |
Het |
| Anks1 |
A |
G |
17: 28,227,020 (GRCm39) |
M558V |
possibly damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,611,977 (GRCm39) |
|
probably benign |
Het |
| Atad3a |
G |
A |
4: 155,839,207 (GRCm39) |
|
probably benign |
Het |
| Bhmt2 |
A |
G |
13: 93,803,171 (GRCm39) |
Y121H |
probably benign |
Het |
| Cbx5 |
A |
G |
15: 103,108,192 (GRCm39) |
V151A |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,927,320 (GRCm39) |
I231N |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,925,920 (GRCm39) |
C168* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,963,784 (GRCm39) |
I1723N |
probably damaging |
Het |
| Epb42 |
G |
A |
2: 120,855,188 (GRCm39) |
P466S |
probably damaging |
Het |
| Fem1b |
C |
T |
9: 62,703,446 (GRCm39) |
V605I |
possibly damaging |
Het |
| Gpr135 |
A |
T |
12: 72,116,858 (GRCm39) |
V303D |
possibly damaging |
Het |
| Gprin3 |
C |
A |
6: 59,332,310 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
T |
A |
16: 87,852,937 (GRCm39) |
Q82L |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,354,891 (GRCm39) |
N118D |
probably benign |
Het |
| Hdac9 |
A |
G |
12: 34,481,967 (GRCm39) |
V146A |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,160,621 (GRCm39) |
F763L |
probably benign |
Het |
| Impg2 |
C |
T |
16: 56,080,335 (GRCm39) |
S713L |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,347,872 (GRCm39) |
M748K |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,075,565 (GRCm39) |
Q359R |
probably benign |
Het |
| Mtmr4 |
A |
G |
11: 87,491,950 (GRCm39) |
N206S |
possibly damaging |
Het |
| Nos3 |
T |
C |
5: 24,573,996 (GRCm39) |
I227T |
probably damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,310 (GRCm39) |
I215V |
probably benign |
Het |
| Pde1a |
A |
T |
2: 79,727,421 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,799,781 (GRCm39) |
D665E |
probably damaging |
Het |
| Prickle4 |
G |
T |
17: 48,001,174 (GRCm39) |
L131M |
probably damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,499,348 (GRCm39) |
Y39N |
probably benign |
Het |
| Slco6d1 |
T |
C |
1: 98,374,531 (GRCm39) |
V350A |
possibly damaging |
Het |
| Srsf7 |
T |
A |
17: 80,510,121 (GRCm39) |
S209C |
probably null |
Het |
| Syde2 |
C |
T |
3: 145,707,927 (GRCm39) |
A622V |
possibly damaging |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,403 (GRCm39) |
S70T |
possibly damaging |
Het |
| Vmn2r39 |
T |
C |
7: 9,026,643 (GRCm39) |
I453V |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,978,862 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
G |
T |
18: 5,766,892 (GRCm39) |
V468F |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,316,933 (GRCm39) |
V493D |
probably damaging |
Het |
|
| Other mutations in Gclc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02026:Gclc
|
APN |
9 |
77,699,342 (GRCm39) |
missense |
probably benign |
|
|
R0671:Gclc
|
UTSW |
9 |
77,694,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Gclc
|
UTSW |
9 |
77,688,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1469:Gclc
|
UTSW |
9 |
77,688,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1700:Gclc
|
UTSW |
9 |
77,683,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3120:Gclc
|
UTSW |
9 |
77,688,552 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3830:Gclc
|
UTSW |
9 |
77,699,242 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6747:Gclc
|
UTSW |
9 |
77,695,527 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7028:Gclc
|
UTSW |
9 |
77,695,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Gclc
|
UTSW |
9 |
77,694,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Gclc
|
UTSW |
9 |
77,692,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7329:Gclc
|
UTSW |
9 |
77,683,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Gclc
|
UTSW |
9 |
77,662,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Gclc
|
UTSW |
9 |
77,695,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Gclc
|
UTSW |
9 |
77,688,649 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Gclc
|
UTSW |
9 |
77,694,021 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-05-07 |
Incidental Mutation