Incidental Mutation 'R4971:Oga'
| ID |
384481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oga
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
O-GlcNAcase |
| Synonyms |
4833427O07Rik, 5830447M11Rik, Mgea5, 2810009A20Rik, Hy5 |
| MMRRC Submission |
042566-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4971 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
45738698-45772274 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 45758485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026243
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,524,190 (GRCm39) |
F1147L |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,006 (GRCm39) |
S1373P |
probably damaging |
Het |
| Abca9 |
A |
T |
11: 110,042,874 (GRCm39) |
S392T |
probably benign |
Het |
| Abcd2 |
T |
C |
15: 91,047,313 (GRCm39) |
D580G |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,882 (GRCm39) |
L314H |
probably damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,255,168 (GRCm39) |
F746L |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,901,995 (GRCm39) |
V68A |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 96,448,254 (GRCm39) |
F2266S |
probably damaging |
Het |
| Colq |
T |
C |
14: 31,267,034 (GRCm39) |
R159G |
probably damaging |
Het |
| Ctse |
A |
T |
1: 131,592,130 (GRCm39) |
D152V |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,970,045 (GRCm39) |
M1011I |
probably benign |
Het |
| Cyb5r4 |
G |
T |
9: 86,939,224 (GRCm39) |
V336L |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,131,949 (GRCm39) |
H1619Q |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,818,986 (GRCm39) |
K216E |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,755 (GRCm39) |
H1410L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,446,604 (GRCm39) |
Y2388C |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,816,222 (GRCm39) |
T3985M |
probably benign |
Het |
| Gak |
T |
C |
5: 108,744,672 (GRCm39) |
Y535C |
probably damaging |
Het |
| Gzmc |
G |
T |
14: 56,469,826 (GRCm39) |
P158Q |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,572,607 (GRCm39) |
Y135H |
probably benign |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Ing4 |
A |
T |
6: 125,020,961 (GRCm39) |
M28L |
probably benign |
Het |
| Irs3 |
T |
A |
5: 137,642,754 (GRCm39) |
D228V |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,555,836 (GRCm39) |
I301N |
probably damaging |
Het |
| Kif13b |
T |
A |
14: 64,995,011 (GRCm39) |
M921K |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,515,870 (GRCm39) |
S2658P |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,468,382 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
C |
T |
12: 69,899,493 (GRCm39) |
V53I |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,739,827 (GRCm39) |
S3694P |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,548,749 (GRCm39) |
V1038A |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,370,015 (GRCm39) |
V3185A |
possibly damaging |
Het |
| Mup5 |
T |
A |
4: 61,751,297 (GRCm39) |
N117I |
probably benign |
Het |
| Myo19 |
T |
A |
11: 84,783,023 (GRCm39) |
M179K |
probably damaging |
Het |
| Myo1c |
A |
G |
11: 75,562,414 (GRCm39) |
Y902C |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,335,469 (GRCm39) |
I977K |
probably damaging |
Het |
| Nos1 |
T |
C |
5: 118,081,899 (GRCm39) |
V1240A |
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,619,930 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4c107 |
A |
T |
2: 88,788,863 (GRCm39) |
N18Y |
probably damaging |
Het |
| Pdlim2 |
A |
G |
14: 70,405,208 (GRCm39) |
V219A |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,805 (GRCm39) |
M355L |
probably benign |
Het |
| Polr1g |
T |
C |
7: 19,091,487 (GRCm39) |
N207D |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,549,128 (GRCm39) |
|
probably null |
Het |
| Rbfox1 |
C |
T |
16: 7,111,952 (GRCm39) |
R173C |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,676,427 (GRCm39) |
V125D |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,227,097 (GRCm39) |
|
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,124,300 (GRCm39) |
I154K |
probably damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,837,978 (GRCm39) |
R129C |
probably damaging |
Het |
| Setbp1 |
A |
G |
18: 78,901,382 (GRCm39) |
S762P |
probably benign |
Het |
| Slc13a3 |
A |
G |
2: 165,290,619 (GRCm39) |
I67T |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,100,923 (GRCm39) |
M689K |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,884,667 (GRCm39) |
Y1517C |
probably damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,849 (GRCm39) |
N109K |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,797 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
T |
5: 102,096,838 (GRCm39) |
L320* |
probably null |
Het |
| Zfp456 |
T |
C |
13: 67,514,995 (GRCm39) |
E237G |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,826,147 (GRCm39) |
E103G |
possibly 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 |
|
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 |
|
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'- GGCCAATCTGGAATACATGAAACC -3'
(R):5'- TCACAGCTGACAGTGAAGACAG -3'
Sequencing Primer
(F):5'- AGTCCCAAGGTGGACAGTTTC -3'
(R):5'- CTGACAGTGAAGACAGTACTGTATC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation