Incidental Mutation 'R3684:Gls'
| ID |
269454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gls
|
| Ensembl Gene |
ENSMUSG00000026103 |
| Gene Name |
glutaminase |
| Synonyms |
B230365M23Rik |
| MMRRC Submission |
040682-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52202607-52272391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52205452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 447
(D447E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070968]
[ENSMUST00000114512]
[ENSMUST00000114513]
[ENSMUST00000189244]
|
| AlphaFold |
D3Z7P3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070968
|
| SMART Domains |
Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
2.5e-61 |
SMART |
|
Pfam:STAT_alpha
|
139 |
315 |
1.4e-56 |
PFAM |
|
Pfam:STAT_bind
|
317 |
566 |
4.2e-82 |
PFAM |
|
SH2
|
571 |
687 |
1.59e-1 |
SMART |
|
Pfam:STAT1_TAZ2bind
|
715 |
739 |
2.4e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114512
AA Change: D447E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110157
Gene: ENSMUSG00000026103
AA Change: D447E
| 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 damaging
Transcript: ENSMUST00000114513
AA Change: D630E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110158
Gene: ENSMUSG00000026103
AA Change: D630E
| 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: ENSMUST00000126221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138906
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156887
AA Change: D160E
|
| SMART Domains |
Protein: ENSMUSP00000116901
Gene: ENSMUSG00000026103
AA Change: D160E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glutaminase
|
5 |
66 |
3.1e-26 |
PFAM |
|
ANK
|
121 |
151 |
6.02e-4 |
SMART |
|
ANK
|
155 |
184 |
5.69e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189244
|
| SMART Domains |
Protein: ENSMUSP00000140482
Gene: ENSMUSG00000026104
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STAT_bind
|
13 |
61 |
2.6e-14 |
PFAM |
|
SH2
|
65 |
181 |
1.59e-1 |
SMART |
|
Pfam:STAT1_TAZ2bind
|
209 |
233 |
7.8e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
| Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
| Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
| Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
| Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
| Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
probably benign |
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 |
|
R3697:Gls
|
UTSW |
1 |
52,238,923 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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'- TAGTCATGTTCCACAATGACTAGG -3'
(R):5'- TCACACCAGTGTCTGAACTC -3'
Sequencing Primer
(F):5'- TCCACAATGACTAGGTAAGTAATGG -3'
(R):5'- ACCAGTGTCTGAACTCTAAGAAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation