Incidental Mutation 'IGL01444:Gls2'
ID |
84366 |
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 # |
IGL01444
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128030504-128045873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 128037216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 252
(N252K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044776]
[ENSMUST00000123291]
[ENSMUST00000143827]
[ENSMUST00000159440]
|
AlphaFold |
Q571F8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044776
AA Change: N252K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047376 Gene: ENSMUSG00000044005 AA Change: N252K
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: ENSMUST00000123291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123385
|
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: ENSMUST00000152928
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
A |
T |
3: 37,146,183 (GRCm39) |
N517I |
probably damaging |
Het |
Adam25 |
G |
A |
8: 41,207,958 (GRCm39) |
R408H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,470 (GRCm39) |
D251E |
probably benign |
Het |
Ang |
C |
A |
14: 51,339,124 (GRCm39) |
Y88* |
probably null |
Het |
Ankrd42 |
T |
C |
7: 92,259,793 (GRCm39) |
T327A |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,938,682 (GRCm39) |
D2696G |
probably damaging |
Het |
Chd3 |
G |
A |
11: 69,239,568 (GRCm39) |
T1717M |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,250,069 (GRCm39) |
M970L |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,350,706 (GRCm39) |
I121M |
possibly damaging |
Het |
Dnah11 |
G |
A |
12: 117,983,967 (GRCm39) |
S2506F |
possibly damaging |
Het |
Dscam |
T |
A |
16: 96,474,909 (GRCm39) |
I1218F |
possibly damaging |
Het |
Duox1 |
T |
C |
2: 122,170,571 (GRCm39) |
L1197P |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,941,288 (GRCm39) |
|
probably benign |
Het |
Exoc3 |
T |
C |
13: 74,355,054 (GRCm39) |
K49R |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,622,580 (GRCm39) |
T596S |
possibly damaging |
Het |
F13a1 |
C |
T |
13: 37,102,551 (GRCm39) |
G391R |
probably null |
Het |
Fat3 |
A |
T |
9: 15,910,144 (GRCm39) |
S1953T |
probably damaging |
Het |
Haus2 |
G |
A |
2: 120,446,423 (GRCm39) |
R115K |
probably benign |
Het |
Ift122 |
A |
G |
6: 115,861,340 (GRCm39) |
K262E |
probably benign |
Het |
Islr2 |
C |
T |
9: 58,105,661 (GRCm39) |
C533Y |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,274,060 (GRCm39) |
F3997I |
possibly damaging |
Het |
Nt5c1a |
C |
T |
4: 123,109,962 (GRCm39) |
R354W |
probably damaging |
Het |
Or6c206 |
T |
A |
10: 129,097,204 (GRCm39) |
C125S |
probably damaging |
Het |
Pcolce |
A |
T |
5: 137,605,738 (GRCm39) |
S200R |
probably damaging |
Het |
Plec |
A |
G |
15: 76,063,497 (GRCm39) |
V2213A |
possibly damaging |
Het |
Prmt3 |
T |
A |
7: 49,430,120 (GRCm39) |
D74E |
probably benign |
Het |
Ptk7 |
A |
G |
17: 46,876,313 (GRCm39) |
F1046S |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,311,122 (GRCm39) |
Y887H |
possibly damaging |
Het |
Sanbr |
T |
G |
11: 23,570,225 (GRCm39) |
|
probably benign |
Het |
Sez6l2 |
G |
A |
7: 126,561,055 (GRCm39) |
E447K |
possibly damaging |
Het |
Shld2 |
C |
A |
14: 33,959,514 (GRCm39) |
V823F |
probably damaging |
Het |
Snrnp70 |
C |
T |
7: 45,036,660 (GRCm39) |
|
probably null |
Het |
Timm10 |
T |
A |
2: 84,660,208 (GRCm39) |
V49E |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,067,386 (GRCm39) |
|
probably benign |
Het |
Usp20 |
T |
A |
2: 30,888,801 (GRCm39) |
M1K |
probably null |
Het |
Usp32 |
A |
C |
11: 84,949,990 (GRCm39) |
L223V |
probably damaging |
Het |
Zeb1 |
G |
T |
18: 5,767,906 (GRCm39) |
A806S |
probably damaging |
Het |
Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
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 |
|
IGL00583:Gls2
|
APN |
10 |
128,040,751 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
2013-11-11 |