Incidental Mutation 'R8019:Oga'
| ID |
617302 |
| 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 # |
R8019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
45738698-45772274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45762107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 249
(W249R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026243
AA Change: W249R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: W249R
| 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: 99.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110065P20Rik |
G |
T |
4: 124,744,469 (GRCm39) |
A51E |
unknown |
Het |
| A2ml1 |
C |
T |
6: 128,558,410 (GRCm39) |
|
probably null |
Het |
| Aimp2 |
G |
A |
5: 143,846,412 (GRCm39) |
A41V |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Bnc2 |
A |
G |
4: 84,329,662 (GRCm39) |
L118P |
|
Het |
| Ccdc18 |
T |
A |
5: 108,376,511 (GRCm39) |
Y1317* |
probably null |
Het |
| Ccdc93 |
C |
T |
1: 121,375,993 (GRCm39) |
T168M |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,614,828 (GRCm39) |
D1292Y |
possibly damaging |
Het |
| Cdh24 |
G |
T |
14: 54,876,089 (GRCm39) |
N184K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cspg4b |
T |
A |
13: 113,456,157 (GRCm39) |
S734R |
|
Het |
| Efemp2 |
T |
A |
19: 5,527,708 (GRCm39) |
C181* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,734,174 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,739,920 (GRCm39) |
V49M |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,284,752 (GRCm39) |
C611Y |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
T |
G |
14: 118,504,951 (GRCm39) |
Y128D |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,698,762 (GRCm39) |
N278I |
probably benign |
Het |
| Hace1 |
C |
T |
10: 45,514,478 (GRCm39) |
T199M |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,321,098 (GRCm39) |
V44A |
|
Het |
| Homez |
A |
C |
14: 55,095,689 (GRCm39) |
D6E |
probably benign |
Het |
| Ighv5-12 |
A |
T |
12: 113,665,792 (GRCm39) |
M102K |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,265,023 (GRCm39) |
T643A |
probably benign |
Het |
| Kif17 |
G |
A |
4: 138,023,536 (GRCm39) |
R927Q |
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,828,722 (GRCm39) |
I381F |
probably damaging |
Het |
| Krt6a |
A |
G |
15: 101,602,304 (GRCm39) |
V127A |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Mtfr2 |
A |
T |
10: 20,229,900 (GRCm39) |
N153Y |
probably damaging |
Het |
| Npas3 |
G |
A |
12: 54,091,462 (GRCm39) |
V339I |
probably damaging |
Het |
| Nsun2 |
C |
T |
13: 69,775,764 (GRCm39) |
R438C |
probably damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,595 (GRCm39) |
I114F |
possibly damaging |
Het |
| Or4k47 |
A |
C |
2: 111,452,412 (GRCm39) |
D2E |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,577,392 (GRCm39) |
M284K |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,122 (GRCm39) |
R2338G |
probably damaging |
Het |
| Pgm1 |
A |
G |
4: 99,843,875 (GRCm39) |
M553V |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,511,703 (GRCm39) |
I340T |
probably damaging |
Het |
| Qprt |
C |
A |
7: 126,707,996 (GRCm39) |
R145L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,528,829 (GRCm39) |
D329G |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,431,255 (GRCm39) |
T583M |
|
Het |
| Slc12a7 |
T |
C |
13: 73,947,839 (GRCm39) |
I652T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,723,329 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,055,095 (GRCm39) |
I320T |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,466,917 (GRCm39) |
Y524H |
probably damaging |
Het |
| Slc6a20a |
T |
A |
9: 123,493,639 (GRCm39) |
S81C |
probably damaging |
Het |
| Srf |
G |
T |
17: 46,866,748 (GRCm39) |
P3T |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,299,465 (GRCm39) |
M828T |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,651,925 (GRCm39) |
V406A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,146,637 (GRCm39) |
P335Q |
probably damaging |
Het |
| Svs5 |
T |
A |
2: 164,175,341 (GRCm39) |
S64R |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,928,013 (GRCm39) |
V130A |
possibly damaging |
Het |
| Tbrg4 |
C |
T |
11: 6,568,517 (GRCm39) |
V421M |
probably damaging |
Het |
| Tbx4 |
G |
T |
11: 85,804,986 (GRCm39) |
K358N |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,353,248 (GRCm39) |
T384S |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,248 (GRCm39) |
H261Q |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,095 (GRCm39) |
C372* |
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 |
|
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'- GTGACACAGCTAAATAGAGTTGC -3'
(R):5'- ATACAGAGCCCTTTGTTGTTTG -3'
Sequencing Primer
(F):5'- CTAAATAGAGTTGCCAGATGCCCTG -3'
(R):5'- AGCACTGCAGTCCTGATT -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation