Incidental Mutation 'R8066:Oga'
| ID |
620036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oga
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
O-GlcNAcase |
| Synonyms |
4833427O07Rik, 5830447M11Rik, Mgea5, 2810009A20Rik, Hy5 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
45738698-45772274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45760291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 289
(K289R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026243
AA Change: K289R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: K289R
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,780,689 (GRCm39) |
V177A |
probably benign |
Het |
| Acsm2 |
C |
A |
7: 119,190,548 (GRCm39) |
T517K |
probably damaging |
Het |
| Adam29 |
T |
G |
8: 56,325,703 (GRCm39) |
L250F |
probably benign |
Het |
| Ankrd37 |
T |
C |
8: 46,450,726 (GRCm39) |
D135G |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,980 (GRCm39) |
T572A |
possibly damaging |
Het |
| Aspa |
T |
C |
11: 73,204,372 (GRCm39) |
K199E |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,212,338 (GRCm39) |
I13K |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,361,283 (GRCm39) |
D446G |
unknown |
Het |
| Bcar3 |
A |
T |
3: 122,318,573 (GRCm39) |
I654F |
probably damaging |
Het |
| Ccdc188 |
A |
T |
16: 18,037,058 (GRCm39) |
N210Y |
probably damaging |
Het |
| Ccdc25 |
A |
T |
14: 66,083,751 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ccn5 |
G |
T |
2: 163,670,862 (GRCm39) |
C123F |
probably damaging |
Het |
| Cdc37 |
C |
T |
9: 21,054,437 (GRCm39) |
E63K |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,758,042 (GRCm39) |
L150H |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,452,628 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,633,104 (GRCm39) |
Y117* |
probably null |
Het |
| Cyp4f37 |
C |
A |
17: 32,854,047 (GRCm39) |
R499S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,277 (GRCm39) |
Y261C |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,030,679 (GRCm39) |
C468S |
unknown |
Het |
| Gart |
T |
C |
16: 91,436,335 (GRCm39) |
N141D |
probably benign |
Het |
| Get4 |
G |
A |
5: 139,249,293 (GRCm39) |
V126M |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,263 (GRCm39) |
S370G |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,230,812 (GRCm39) |
K162R |
probably benign |
Het |
| Grpel1 |
A |
G |
5: 36,626,889 (GRCm39) |
D57G |
probably benign |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,361,744 (GRCm39) |
L1149P |
probably benign |
Het |
| Lmbrd2 |
G |
A |
15: 9,172,172 (GRCm39) |
R322Q |
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,426 (GRCm39) |
L74P |
possibly damaging |
Het |
| Mcam |
G |
T |
9: 44,052,257 (GRCm39) |
K589N |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,342,562 (GRCm39) |
L813Q |
possibly damaging |
Het |
| Or10h1 |
T |
C |
17: 33,418,126 (GRCm39) |
F35L |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,014 (GRCm39) |
C197S |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,978,761 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,435 (GRCm39) |
I164L |
probably benign |
Het |
| Pck2 |
C |
A |
14: 55,781,858 (GRCm39) |
P251H |
probably benign |
Het |
| Phip |
A |
T |
9: 82,757,351 (GRCm39) |
I1607K |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,658,168 (GRCm39) |
T220A |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,618,478 (GRCm39) |
Q686* |
probably null |
Het |
| Pnpla2 |
A |
G |
7: 141,039,581 (GRCm39) |
*487W |
probably null |
Het |
| Prdm14 |
C |
A |
1: 13,184,540 (GRCm39) |
G544C |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,452,218 (GRCm39) |
E45G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,851,698 (GRCm39) |
D249G |
probably benign |
Het |
| Pstpip1 |
A |
G |
9: 56,033,913 (GRCm39) |
I296V |
probably benign |
Het |
| S1pr3 |
T |
A |
13: 51,573,955 (GRCm39) |
*379R |
probably null |
Het |
| Smc3 |
G |
A |
19: 53,603,576 (GRCm39) |
R57H |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,971,929 (GRCm39) |
Q421K |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,139,484 (GRCm39) |
H1268Q |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,120,804 (GRCm39) |
R155C |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,113,650 (GRCm39) |
V999A |
probably benign |
Het |
| Tchp |
T |
A |
5: 114,847,472 (GRCm39) |
L97Q |
probably benign |
Het |
| Tex46 |
G |
A |
4: 136,340,265 (GRCm39) |
V117M |
probably benign |
Het |
| Tnnc2 |
T |
A |
2: 164,619,661 (GRCm39) |
I102F |
possibly damaging |
Het |
| Trbv5 |
T |
A |
6: 41,039,326 (GRCm39) |
C12S |
probably damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,867 (GRCm39) |
T258S |
possibly damaging |
Het |
| Uba3 |
T |
A |
6: 97,178,882 (GRCm39) |
N87I |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,315 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,565 (GRCm39) |
Y218* |
probably null |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,419 (GRCm39) |
M157V |
probably benign |
Het |
| Vps53 |
T |
C |
11: 76,027,133 (GRCm39) |
E127G |
probably damaging |
Het |
| Vsig10 |
G |
T |
5: 117,489,849 (GRCm39) |
E538D |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,796,095 (GRCm39) |
H188Q |
probably damaging |
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 |
|
R8075:Oga
|
UTSW |
19 |
45,749,621 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8172:Oga
|
UTSW |
19 |
45,765,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ACAAAGGCTGTACTGAGACAC -3'
(R):5'- CCCTGCTGTAGTGTATTTTAAGAAC -3'
Sequencing Primer
(F):5'- TGGGTCCACCACGGTACTTAC -3'
(R):5'- TTAAGAACCGTGTAGAAAGTTTCG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation