Incidental Mutation 'R8172:Oga'
| ID |
634219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oga
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
O-GlcNAcase |
| Synonyms |
4833427O07Rik, 5830447M11Rik, Mgea5, 2810009A20Rik, Hy5 |
| MMRRC Submission |
067598-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
45738698-45772274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45765339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 156
(R156H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026243
AA Change: R156H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: R156H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
Pfam:NAGidase
|
62 |
361 |
2.5e-84 |
PFAM |
|
low complexity region
|
453 |
458 |
N/A |
INTRINSIC |
|
PDB:4BMH|A
|
700 |
915 |
1e-13 |
PDB |
|
SCOP:d1cjwa_
|
715 |
916 |
1e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
A |
16: 34,977,427 (GRCm39) |
L320Q |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,104,769 (GRCm39) |
L278F |
probably benign |
Het |
| Agfg2 |
C |
A |
5: 137,665,431 (GRCm39) |
R108L |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,324 (GRCm39) |
|
probably null |
Het |
| Ascl2 |
G |
T |
7: 142,522,336 (GRCm39) |
N37K |
possibly damaging |
Het |
| Baiap3 |
C |
A |
17: 25,463,096 (GRCm39) |
D1043Y |
probably damaging |
Het |
| Cby2 |
T |
A |
14: 75,829,241 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
T |
C |
5: 108,311,640 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
A |
7: 83,646,433 (GRCm39) |
D205V |
probably damaging |
Het |
| Cenpn |
G |
A |
8: 117,658,333 (GRCm39) |
G93D |
probably benign |
Het |
| Clpsl2 |
T |
A |
17: 28,768,556 (GRCm39) |
S23R |
possibly damaging |
Het |
| Cnot3 |
T |
A |
7: 3,661,724 (GRCm39) |
I672N |
possibly damaging |
Het |
| Crygs |
A |
G |
16: 22,625,292 (GRCm39) |
Y50H |
probably damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,968,874 (GRCm39) |
T403A |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Fam184b |
C |
T |
5: 45,741,709 (GRCm39) |
G174D |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,178,638 (GRCm39) |
D1474V |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,468 (GRCm39) |
D165E |
possibly damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,443 (GRCm39) |
F16I |
probably benign |
Het |
| Gpr176 |
G |
A |
2: 118,114,615 (GRCm39) |
T65I |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,996 (GRCm39) |
T206I |
probably null |
Het |
| Hadha |
C |
G |
5: 30,350,285 (GRCm39) |
A88P |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,485 (GRCm39) |
L245Q |
probably damaging |
Het |
| Hnrnph1 |
T |
C |
11: 50,270,732 (GRCm39) |
V113A |
probably damaging |
Het |
| Hsd3b7 |
G |
A |
7: 127,401,546 (GRCm39) |
V224M |
probably damaging |
Het |
| Igha |
T |
C |
12: 113,223,592 (GRCm39) |
D88G |
|
Het |
| Iqca1l |
T |
C |
5: 24,748,608 (GRCm39) |
M803V |
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,125,965 (GRCm39) |
K610R |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,383,284 (GRCm39) |
C474Y |
probably benign |
Het |
| Lrrc74a |
T |
A |
12: 86,788,530 (GRCm39) |
L170H |
probably damaging |
Het |
| Lyg2 |
T |
C |
1: 37,946,748 (GRCm39) |
T178A |
probably benign |
Het |
| Map2k2 |
T |
A |
10: 80,959,442 (GRCm39) |
|
probably null |
Het |
| Mast4 |
C |
T |
13: 103,089,633 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,216,529 (GRCm39) |
D8E |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,647,986 (GRCm39) |
Q157L |
probably damaging |
Het |
| Poc1b |
C |
A |
10: 98,980,338 (GRCm39) |
|
probably null |
Het |
| Proser1 |
T |
A |
3: 53,386,272 (GRCm39) |
V718E |
possibly damaging |
Het |
| Ptgr2 |
T |
A |
12: 84,360,783 (GRCm39) |
L351Q |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,068,275 (GRCm39) |
Y1754H |
probably benign |
Het |
| Scgb2b3 |
T |
C |
7: 31,058,476 (GRCm39) |
K109R |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,520,672 (GRCm39) |
H556L |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,191 (GRCm39) |
M1566K |
possibly damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,060,490 (GRCm39) |
L77* |
probably null |
Het |
| Stk31 |
T |
C |
6: 49,394,261 (GRCm39) |
F208L |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,801,933 (GRCm39) |
I189V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,404,682 (GRCm39) |
Y306N |
probably benign |
Het |
| Ttc21b |
T |
A |
2: 66,082,500 (GRCm39) |
Y33F |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,687,133 (GRCm39) |
L677* |
probably null |
Het |
|
| Other mutations in Oga |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Oga
|
APN |
19 |
45,753,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01845:Oga
|
APN |
19 |
45,756,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02039:Oga
|
APN |
19 |
45,762,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02428:Oga
|
APN |
19 |
45,753,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02581:Oga
|
APN |
19 |
45,740,630 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02971:Oga
|
APN |
19 |
45,750,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Oga
|
UTSW |
19 |
45,760,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Oga
|
UTSW |
19 |
45,771,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0863:Oga
|
UTSW |
19 |
45,771,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1127:Oga
|
UTSW |
19 |
45,740,594 (GRCm39) |
nonsense |
probably null |
|
|
R1501:Oga
|
UTSW |
19 |
45,767,079 (GRCm39) |
missense |
probably null |
1.00 |
|
R1514:Oga
|
UTSW |
19 |
45,765,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1586:Oga
|
UTSW |
19 |
45,765,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1716:Oga
|
UTSW |
19 |
45,740,613 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1755:Oga
|
UTSW |
19 |
45,746,845 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1774:Oga
|
UTSW |
19 |
45,765,423 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2152:Oga
|
UTSW |
19 |
45,746,461 (GRCm39) |
nonsense |
probably null |
|
|
R4403:Oga
|
UTSW |
19 |
45,767,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Oga
|
UTSW |
19 |
45,760,384 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4971:Oga
|
UTSW |
19 |
45,758,485 (GRCm39) |
splice site |
probably null |
|
|
R5377:Oga
|
UTSW |
19 |
45,746,461 (GRCm39) |
nonsense |
probably null |
|
|
R5571:Oga
|
UTSW |
19 |
45,765,445 (GRCm39) |
missense |
probably benign |
|
|
R5639:Oga
|
UTSW |
19 |
45,765,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Oga
|
UTSW |
19 |
45,765,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5776:Oga
|
UTSW |
19 |
45,760,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Oga
|
UTSW |
19 |
45,753,919 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6054:Oga
|
UTSW |
19 |
45,764,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Oga
|
UTSW |
19 |
45,760,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6410:Oga
|
UTSW |
19 |
45,764,484 (GRCm39) |
splice site |
probably null |
|
|
R6990:Oga
|
UTSW |
19 |
45,755,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Oga
|
UTSW |
19 |
45,771,605 (GRCm39) |
start gained |
probably benign |
|
|
R7340:Oga
|
UTSW |
19 |
45,755,895 (GRCm39) |
nonsense |
probably null |
|
|
R7437:Oga
|
UTSW |
19 |
45,767,046 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7490:Oga
|
UTSW |
19 |
45,755,886 (GRCm39) |
nonsense |
probably null |
|
|
R7741:Oga
|
UTSW |
19 |
45,764,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Oga
|
UTSW |
19 |
45,765,354 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8017:Oga
|
UTSW |
19 |
45,762,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Oga
|
UTSW |
19 |
45,762,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Oga
|
UTSW |
19 |
45,760,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8075:Oga
|
UTSW |
19 |
45,749,621 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8558:Oga
|
UTSW |
19 |
45,746,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9050:Oga
|
UTSW |
19 |
45,756,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Oga
|
UTSW |
19 |
45,771,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9404:Oga
|
UTSW |
19 |
45,743,096 (GRCm39) |
frame shift |
probably null |
|
|
R9562:Oga
|
UTSW |
19 |
45,743,096 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTATACAAGGCAGCAAATCAATGAG -3'
(R):5'- TGACTTCTTCCGTTACAAAGTAAAG -3'
Sequencing Primer
(F):5'- CAGTGGACTTCTGAATTCAAGGCC -3'
(R):5'- AAAGTTTGTTTTAGTGTTCCTGTTGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation