Incidental Mutation 'R3697:Gls'
| ID |
269842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gls
|
| Ensembl Gene |
ENSMUSG00000026103 |
| Gene Name |
glutaminase |
| Synonyms |
B230365M23Rik |
| MMRRC Submission |
040691-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52202607-52272391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52238923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 364
(M364I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114510]
[ENSMUST00000114512]
[ENSMUST00000114513]
[ENSMUST00000155587]
|
| AlphaFold |
D3Z7P3 |
| PDB Structure |
Crystal structure of mouse Glutaminase C, ligand-free form [X-RAY DIFFRACTION]
Crystal structure of mouse Glutaminase C, phosphate-bound form [X-RAY DIFFRACTION]
Crystal structure of mouse Glutaminase C, L-glutamate-bound form [X-RAY DIFFRACTION]
Crystal structure of mouse Glutaminase C, BPTES-bound form [X-RAY DIFFRACTION]
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114509
|
| SMART Domains |
Protein: ENSMUSP00000110154
Gene: ENSMUSG00000026103
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glutaminase
|
18 |
208 |
2.9e-79 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114510
AA Change: M364I
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110155
Gene: ENSMUSG00000026103
AA Change: M364I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
110 |
N/A |
INTRINSIC |
|
Pfam:Glutaminase
|
249 |
535 |
3e-127 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114512
AA Change: M181I
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110157
Gene: ENSMUSG00000026103
AA Change: M181I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glutaminase
|
66 |
352 |
1.7e-125 |
PFAM |
|
ANK
|
407 |
437 |
3.9e-6 |
SMART |
|
ANK
|
441 |
470 |
3.6e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114513
AA Change: M364I
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110158
Gene: ENSMUSG00000026103
AA Change: M364I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
110 |
N/A |
INTRINSIC |
|
Pfam:Glutaminase
|
249 |
535 |
4.2e-123 |
PFAM |
|
ANK
|
590 |
620 |
6.02e-4 |
SMART |
|
ANK
|
624 |
653 |
5.69e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155587
AA Change: M35I
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115358
Gene: ENSMUSG00000026103
AA Change: M35I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glutaminase
|
1 |
206 |
2.4e-92 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations die within 1 day postnatally with abnormal respiratory function and goal-oriented behavior toward dam. Mice homozygous for another allele exhibit abnormal TNFA-stimulated astrocyte extracellular vesicle release. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,366,157 (GRCm39) |
D805G |
probably benign |
Het |
| Cnmd |
C |
A |
14: 79,875,421 (GRCm39) |
R333L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,518,958 (GRCm39) |
I79N |
unknown |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Gm16380 |
A |
G |
9: 53,791,736 (GRCm39) |
|
noncoding transcript |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,953,551 (GRCm39) |
T233A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lemd3 |
CCCTCCTCCTCCTCCTCCTCC |
CCCTCCTCCTCCTCCTCC |
10: 120,814,432 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 152,028,073 (GRCm39) |
N152S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,647,469 (GRCm39) |
F728L |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Nop56 |
C |
A |
2: 130,119,507 (GRCm39) |
N57K |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,165,646 (GRCm39) |
N197S |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,481 (GRCm39) |
C244S |
probably damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Rtp3 |
T |
A |
9: 110,816,262 (GRCm39) |
R96S |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,534,876 (GRCm39) |
K316* |
probably null |
Het |
| Sp6 |
C |
A |
11: 96,912,580 (GRCm39) |
P98T |
possibly damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,321 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vmn1r216 |
G |
A |
13: 23,283,849 (GRCm39) |
W177* |
probably null |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gls |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Gls
|
APN |
1 |
52,227,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01366:Gls
|
APN |
1 |
52,207,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01367:Gls
|
APN |
1 |
52,207,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01832:Gls
|
APN |
1 |
52,207,568 (GRCm39) |
splice site |
probably null |
|
|
IGL02045:Gls
|
APN |
1 |
52,258,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
LCD18:Gls
|
UTSW |
1 |
52,222,526 (GRCm39) |
intron |
probably benign |
|
|
R0268:Gls
|
UTSW |
1 |
52,271,853 (GRCm39) |
small deletion |
probably benign |
|
|
R0373:Gls
|
UTSW |
1 |
52,227,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Gls
|
UTSW |
1 |
52,251,534 (GRCm39) |
unclassified |
probably benign |
|
|
R1440:Gls
|
UTSW |
1 |
52,230,293 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1628:Gls
|
UTSW |
1 |
52,271,835 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3684:Gls
|
UTSW |
1 |
52,205,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Gls
|
UTSW |
1 |
52,208,071 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3824:Gls
|
UTSW |
1 |
52,272,147 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4062:Gls
|
UTSW |
1 |
52,235,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Gls
|
UTSW |
1 |
52,235,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4740:Gls
|
UTSW |
1 |
52,271,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Gls
|
UTSW |
1 |
52,239,104 (GRCm39) |
intron |
probably benign |
|
|
R5281:Gls
|
UTSW |
1 |
52,230,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Gls
|
UTSW |
1 |
52,235,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Gls
|
UTSW |
1 |
52,254,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6357:Gls
|
UTSW |
1 |
52,258,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6498:Gls
|
UTSW |
1 |
52,259,198 (GRCm39) |
missense |
probably benign |
|
|
R7187:Gls
|
UTSW |
1 |
52,259,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Gls
|
UTSW |
1 |
52,254,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7545:Gls
|
UTSW |
1 |
52,230,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7627:Gls
|
UTSW |
1 |
52,205,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7648:Gls
|
UTSW |
1 |
52,235,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7781:Gls
|
UTSW |
1 |
52,251,492 (GRCm39) |
nonsense |
probably null |
|
|
R7979:Gls
|
UTSW |
1 |
52,230,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8488:Gls
|
UTSW |
1 |
52,239,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9179:Gls
|
UTSW |
1 |
52,239,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Gls
|
UTSW |
1 |
52,207,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9550:Gls
|
UTSW |
1 |
52,251,373 (GRCm39) |
nonsense |
probably null |
|
|
R9667:Gls
|
UTSW |
1 |
52,230,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9721:Gls
|
UTSW |
1 |
52,251,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gls
|
UTSW |
1 |
52,253,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGTTCTAGGGCCTCACATATATG -3'
(R):5'- ACTGTGCAGTGCATTGATTCC -3'
Sequencing Primer
(F):5'- GTGTGTGTATGTGAATATGTGTTTAC -3'
(R):5'- ATGTATGTGTTAGCTTCGTTCTCAAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation