Incidental Mutation 'R6054:Oga'
| ID |
484344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oga
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
O-GlcNAcase |
| Synonyms |
4833427O07Rik, 5830447M11Rik, Mgea5, 2810009A20Rik, Hy5 |
| MMRRC Submission |
044222-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6054 (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 G
at 45764571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 190
(S190P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026243
AA Change: S190P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: S190P
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,653,729 (GRCm39) |
S93P |
unknown |
Het |
| Adam28 |
T |
A |
14: 68,879,601 (GRCm39) |
N149I |
probably benign |
Het |
| Adam4 |
A |
C |
12: 81,466,828 (GRCm39) |
F598V |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,151,136 (GRCm39) |
H33R |
possibly damaging |
Het |
| Apoh |
A |
G |
11: 108,286,801 (GRCm39) |
N75S |
probably damaging |
Het |
| Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,371,173 (GRCm39) |
D2225G |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 100,930,715 (GRCm39) |
P514L |
possibly damaging |
Het |
| Brd9 |
T |
A |
13: 74,088,860 (GRCm39) |
M195K |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 85,283,414 (GRCm39) |
S755A |
probably damaging |
Het |
| Ccdc85c |
T |
A |
12: 108,241,028 (GRCm39) |
H122L |
unknown |
Het |
| Ccs |
A |
T |
19: 4,875,893 (GRCm39) |
D192E |
probably benign |
Het |
| Cd3e |
G |
A |
9: 44,913,459 (GRCm39) |
T92M |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,314,279 (GRCm39) |
F1249L |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,515 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,668,859 (GRCm39) |
Y122H |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,083,748 (GRCm39) |
P570S |
possibly damaging |
Het |
| Dchs2 |
A |
T |
3: 83,253,543 (GRCm39) |
I2318L |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,660,219 (GRCm39) |
Y184N |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 49,990,453 (GRCm39) |
N297K |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,351,585 (GRCm39) |
G135S |
probably benign |
Het |
| Efhb |
C |
T |
17: 53,706,027 (GRCm39) |
V837I |
possibly damaging |
Het |
| Efs |
C |
T |
14: 55,158,614 (GRCm39) |
D15N |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,351,681 (GRCm39) |
T314I |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,663,474 (GRCm39) |
C69S |
unknown |
Het |
| Grxcr2 |
A |
G |
18: 42,119,743 (GRCm39) |
V199A |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,328,682 (GRCm39) |
E468G |
probably benign |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,759,217 (GRCm39) |
V125E |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,772,412 (GRCm39) |
T74S |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Leng8 |
C |
A |
7: 4,148,522 (GRCm39) |
|
probably null |
Het |
| Maml2 |
TCAGCAGCAGCAGCAGCAGC |
TCAGCAGCAGCAGCAGC |
9: 13,532,695 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,908,851 (GRCm39) |
H154R |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,347,636 (GRCm39) |
E777G |
probably benign |
Het |
| Miip |
A |
G |
4: 147,950,135 (GRCm39) |
S154P |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,649,251 (GRCm39) |
V985A |
probably benign |
Het |
| Nmrk2 |
G |
A |
10: 81,035,468 (GRCm39) |
R158W |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,039,505 (GRCm39) |
S180P |
probably damaging |
Het |
| Opa1 |
T |
G |
16: 29,433,952 (GRCm39) |
S596A |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,631 (GRCm39) |
M34I |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,531,033 (GRCm39) |
V139A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,073,857 (GRCm39) |
E496G |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,133 (GRCm39) |
V171G |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,339,003 (GRCm39) |
T68A |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,418,219 (GRCm39) |
Y1719C |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,490,727 (GRCm39) |
N412S |
probably benign |
Het |
| Rb1cc1 |
G |
T |
1: 6,320,058 (GRCm39) |
R1159L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,700,146 (GRCm39) |
S1548T |
probably benign |
Het |
| Rora |
A |
G |
9: 69,286,084 (GRCm39) |
I471M |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,535,877 (GRCm39) |
V266L |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,416,470 (GRCm39) |
D386N |
possibly damaging |
Het |
| Siglecf |
T |
A |
7: 43,004,430 (GRCm39) |
L253Q |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,464 (GRCm39) |
H204R |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,007,356 (GRCm39) |
T313A |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,038,304 (GRCm39) |
T578A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,450 (GRCm39) |
S597G |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,126 (GRCm39) |
H174L |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,436,975 (GRCm39) |
S281T |
probably benign |
Het |
| Wdr48 |
A |
G |
9: 119,736,843 (GRCm39) |
D22G |
probably damaging |
Het |
| Zfp408 |
C |
A |
2: 91,479,636 (GRCm39) |
V61L |
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,640,689 (GRCm39) |
A205T |
probably benign |
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 |
|
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'- GGACAGGATGCAATAGGTCC -3'
(R):5'- GCACCAGCTATATTAACTTAGAGTGG -3'
Sequencing Primer
(F):5'- ATGCAATAGGTCCAGCGC -3'
(R):5'- AGAGTGGTTGTCACTGAA -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation