Incidental Mutation 'IGL00583:Gls2'
ID |
4644 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gls2
|
Ensembl Gene |
ENSMUSG00000044005 |
Gene Name |
glutaminase 2 (liver, mitochondrial) |
Synonyms |
Lga, A330074B06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00583
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128030504-128045873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128040751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 340
(M340V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044776]
[ENSMUST00000143827]
[ENSMUST00000159440]
|
AlphaFold |
Q571F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044776
AA Change: M340V
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000047376 Gene: ENSMUSG00000044005 AA Change: M340V
Domain | Start | End | E-Value | Type |
Pfam:Glutaminase
|
177 |
463 |
1.1e-116 |
PFAM |
ANK
|
518 |
548 |
3.76e-5 |
SMART |
ANK
|
552 |
581 |
1.21e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132441
|
SMART Domains |
Protein: ENSMUSP00000115788 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
Pfam:Glutaminase
|
1 |
37 |
7.9e-9 |
PFAM |
ANK
|
92 |
122 |
3.76e-5 |
SMART |
ANK
|
126 |
155 |
1.21e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134104
|
SMART Domains |
Protein: ENSMUSP00000123436 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
PDB:4JKT|D
|
60 |
172 |
1e-48 |
PDB |
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135441
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143827
|
SMART Domains |
Protein: ENSMUSP00000119763 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
PDB:4JKT|D
|
67 |
135 |
5e-25 |
PDB |
low complexity region
|
170 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145591
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159440
|
SMART Domains |
Protein: ENSMUSP00000124239 Gene: ENSMUSG00000044005
Domain | Start | End | E-Value | Type |
PDB:4JKT|D
|
67 |
134 |
9e-25 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
C |
T |
13: 104,433,726 (GRCm39) |
Q52* |
probably null |
Het |
Ambp |
G |
T |
4: 63,072,255 (GRCm39) |
A13D |
possibly damaging |
Het |
Angptl3 |
A |
G |
4: 98,923,077 (GRCm39) |
T283A |
probably damaging |
Het |
Atp13a5 |
A |
T |
16: 29,094,205 (GRCm39) |
|
probably benign |
Het |
Borcs8 |
A |
G |
8: 70,597,757 (GRCm39) |
H93R |
probably benign |
Het |
Bzw1 |
T |
C |
1: 58,440,494 (GRCm39) |
|
probably benign |
Het |
Cd200 |
A |
C |
16: 45,217,472 (GRCm39) |
I73R |
probably damaging |
Het |
Coq8a |
T |
C |
1: 179,995,954 (GRCm39) |
D528G |
probably benign |
Het |
Edem1 |
T |
A |
6: 108,832,520 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
C |
T |
17: 44,396,088 (GRCm39) |
|
probably benign |
Het |
Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
Erich6 |
T |
C |
3: 58,544,464 (GRCm39) |
E41G |
unknown |
Het |
Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
Golph3l |
T |
C |
3: 95,496,414 (GRCm39) |
L46P |
possibly damaging |
Het |
Limch1 |
T |
C |
5: 67,111,022 (GRCm39) |
I83T |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,060,852 (GRCm39) |
I190M |
possibly damaging |
Het |
Mefv |
T |
A |
16: 3,533,936 (GRCm39) |
K112* |
probably null |
Het |
Oas1e |
T |
A |
5: 120,932,337 (GRCm39) |
E102V |
probably damaging |
Het |
Pde6a |
T |
C |
18: 61,390,339 (GRCm39) |
C521R |
probably damaging |
Het |
Pigw |
A |
G |
11: 84,768,714 (GRCm39) |
V205A |
possibly damaging |
Het |
Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
Shprh |
C |
T |
10: 11,063,764 (GRCm39) |
T1279I |
probably benign |
Het |
Slc11a2 |
T |
C |
15: 100,295,618 (GRCm39) |
E501G |
probably benign |
Het |
Sult2a3 |
T |
A |
7: 13,856,905 (GRCm39) |
Y5F |
probably benign |
Het |
Tll1 |
A |
G |
8: 64,658,326 (GRCm39) |
L31P |
probably benign |
Het |
Tubgcp3 |
G |
A |
8: 12,671,906 (GRCm39) |
Q779* |
probably null |
Het |
U2surp |
T |
A |
9: 95,343,577 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gls2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Gls2
|
APN |
10 |
128,036,840 (GRCm39) |
splice site |
probably null |
|
IGL01444:Gls2
|
APN |
10 |
128,037,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02746:Gls2
|
APN |
10 |
128,036,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Gls2
|
UTSW |
10 |
128,045,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R0024:Gls2
|
UTSW |
10 |
128,035,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Gls2
|
UTSW |
10 |
128,043,180 (GRCm39) |
missense |
probably benign |
|
R1179:Gls2
|
UTSW |
10 |
128,035,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R1227:Gls2
|
UTSW |
10 |
128,035,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R1421:Gls2
|
UTSW |
10 |
128,037,217 (GRCm39) |
nonsense |
probably null |
|
R1750:Gls2
|
UTSW |
10 |
128,037,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R1952:Gls2
|
UTSW |
10 |
128,045,231 (GRCm39) |
missense |
probably benign |
|
R2218:Gls2
|
UTSW |
10 |
128,040,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Gls2
|
UTSW |
10 |
128,043,479 (GRCm39) |
nonsense |
probably null |
|
R2382:Gls2
|
UTSW |
10 |
128,039,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4536:Gls2
|
UTSW |
10 |
128,036,806 (GRCm39) |
missense |
probably benign |
0.00 |
R5305:Gls2
|
UTSW |
10 |
128,040,578 (GRCm39) |
nonsense |
probably null |
|
R5435:Gls2
|
UTSW |
10 |
128,030,995 (GRCm39) |
intron |
probably benign |
|
R5767:Gls2
|
UTSW |
10 |
128,041,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Gls2
|
UTSW |
10 |
128,035,063 (GRCm39) |
missense |
probably benign |
|
R7767:Gls2
|
UTSW |
10 |
128,030,998 (GRCm39) |
missense |
unknown |
|
R8068:Gls2
|
UTSW |
10 |
128,030,983 (GRCm39) |
missense |
unknown |
|
R8084:Gls2
|
UTSW |
10 |
128,035,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Gls2
|
UTSW |
10 |
128,037,154 (GRCm39) |
missense |
probably benign |
0.00 |
R8872:Gls2
|
UTSW |
10 |
128,040,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-04-20 |