Incidental Mutation 'IGL01845:Oga'
| ID |
178177 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45738698-45772274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45756301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 447
(E447D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026243
AA Change: E447D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: E447D
| 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 |
|
| 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 |
|---|
| 1600012H06Rik |
T |
C |
17: 15,164,380 (GRCm39) |
L169P |
probably damaging |
Het |
| 4933405L10Rik |
C |
A |
8: 106,435,567 (GRCm39) |
A75E |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,090,297 (GRCm39) |
L384P |
probably damaging |
Het |
| Acox2 |
C |
A |
14: 8,251,617 (GRCm38) |
M293I |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,081,123 (GRCm39) |
S288G |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,934,137 (GRCm39) |
H127L |
possibly damaging |
Het |
| Arid2 |
T |
G |
15: 96,254,678 (GRCm39) |
F175V |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,532 (GRCm39) |
Q468* |
probably null |
Het |
| Ccdc93 |
T |
C |
1: 121,390,859 (GRCm39) |
I277T |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,825,586 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
C |
7: 126,578,725 (GRCm39) |
S145P |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,719,610 (GRCm39) |
N268S |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,366,129 (GRCm39) |
N814K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,293 (GRCm39) |
D2019G |
probably damaging |
Het |
| Corin |
C |
A |
5: 72,511,282 (GRCm39) |
G432C |
probably damaging |
Het |
| Crppa |
A |
G |
12: 36,597,918 (GRCm39) |
R350G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,432,403 (GRCm39) |
Q134* |
probably null |
Het |
| Dhh |
C |
A |
15: 98,795,864 (GRCm39) |
R97L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,449,315 (GRCm39) |
V4239A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,692 (GRCm39) |
I296V |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,359,306 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,367,815 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
A |
7: 127,711,644 (GRCm39) |
L753Q |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,590,922 (GRCm39) |
V430A |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,017,656 (GRCm39) |
V470A |
possibly damaging |
Het |
| Larp1b |
A |
T |
3: 40,924,960 (GRCm39) |
T146S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,028,728 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,418 (GRCm39) |
C137S |
possibly damaging |
Het |
| Morc3 |
A |
G |
16: 93,657,455 (GRCm39) |
Y393C |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,751 (GRCm39) |
M217K |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,696,191 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,083,860 (GRCm39) |
E1546G |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,716,675 (GRCm39) |
L622P |
possibly damaging |
Het |
| Or10q3 |
A |
G |
19: 11,847,888 (GRCm39) |
S231P |
probably benign |
Het |
| Or1e33 |
A |
G |
11: 73,738,298 (GRCm39) |
Y218H |
probably damaging |
Het |
| Or1j11 |
A |
C |
2: 36,312,105 (GRCm39) |
K232Q |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,343 (GRCm39) |
I220L |
possibly damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,929 (GRCm39) |
M2V |
probably benign |
Het |
| Phf20 |
C |
A |
2: 156,118,577 (GRCm39) |
S427* |
probably null |
Het |
| Pirt |
G |
A |
11: 66,816,794 (GRCm39) |
S35N |
probably damaging |
Het |
| Prss28 |
C |
A |
17: 25,529,011 (GRCm39) |
N117K |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,925,104 (GRCm39) |
C34R |
probably damaging |
Het |
| Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,474,514 (GRCm39) |
|
probably benign |
Het |
| Sh3bp2 |
T |
A |
5: 34,713,347 (GRCm39) |
L196Q |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,685,256 (GRCm39) |
D325Y |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,244,729 (GRCm39) |
V622A |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,249,016 (GRCm39) |
V284A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,251,733 (GRCm39) |
F609L |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,695,576 (GRCm39) |
|
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,163,177 (GRCm39) |
Y881* |
probably null |
Het |
| Ttc41 |
A |
T |
10: 86,612,488 (GRCm39) |
T1254S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,640,347 (GRCm39) |
D13754N |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,762 (GRCm39) |
F656L |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,382,709 (GRCm39) |
I478V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,379,116 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,737,414 (GRCm39) |
D258V |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation