Incidental Mutation 'R9050:Oga'
| ID |
688327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oga
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
O-GlcNAcase |
| Synonyms |
4833427O07Rik, 5830447M11Rik, Mgea5, 2810009A20Rik, Hy5 |
| MMRRC Submission |
068876-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
45738698-45772274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45756354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 430
(T430A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026243
AA Change: T430A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: T430A
| 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: 99.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,208,605 (GRCm39) |
Y332H |
probably benign |
Het |
| Apoc3 |
A |
G |
9: 46,144,592 (GRCm39) |
F77L |
probably benign |
Het |
| Atp5f1c |
A |
T |
2: 10,069,049 (GRCm39) |
D99E |
probably damaging |
Het |
| Atxn3 |
A |
T |
12: 101,924,387 (GRCm39) |
|
probably benign |
Het |
| Calcoco1 |
A |
G |
15: 102,618,400 (GRCm39) |
V463A |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,248,617 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,883,133 (GRCm39) |
D1256G |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,738,687 (GRCm39) |
D2385E |
possibly damaging |
Het |
| Clec9a |
G |
C |
6: 129,396,561 (GRCm39) |
A170P |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,697,691 (GRCm39) |
G871S |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,635,099 (GRCm39) |
S159P |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,798,659 (GRCm39) |
F272L |
probably benign |
Het |
| Glp1r |
G |
A |
17: 31,137,892 (GRCm39) |
G108S |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
| Hps5 |
T |
C |
7: 46,422,607 (GRCm39) |
D574G |
probably benign |
Het |
| Il7 |
A |
G |
3: 7,669,170 (GRCm39) |
V22A |
possibly damaging |
Het |
| Kmt5c |
A |
G |
7: 4,745,281 (GRCm39) |
T91A |
probably benign |
Het |
| Mrpl39 |
A |
C |
16: 84,531,844 (GRCm39) |
|
probably benign |
Het |
| Mtr |
T |
C |
13: 12,231,748 (GRCm39) |
D652G |
probably null |
Het |
| Neb |
C |
T |
2: 52,079,901 (GRCm39) |
V5768M |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nicol1 |
G |
C |
5: 34,140,874 (GRCm39) |
A29P |
unknown |
Het |
| Nmrk1 |
T |
A |
19: 18,618,539 (GRCm39) |
M74K |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,870 (GRCm39) |
L58P |
unknown |
Het |
| Or1o4 |
A |
G |
17: 37,590,820 (GRCm39) |
Y164H |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,150 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
C |
11: 49,218,930 (GRCm39) |
S231P |
possibly damaging |
Het |
| Or5p62 |
A |
C |
7: 107,771,087 (GRCm39) |
L288W |
probably damaging |
Het |
| Pcdhb17 |
T |
G |
18: 37,620,286 (GRCm39) |
V692G |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,882,567 (GRCm39) |
V829A |
probably benign |
Het |
| Pramel24 |
A |
T |
4: 143,453,329 (GRCm39) |
T146S |
probably benign |
Het |
| Pth |
A |
G |
7: 112,985,043 (GRCm39) |
V110A |
probably benign |
Het |
| Rabggta |
T |
A |
14: 55,959,056 (GRCm39) |
Q37L |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,738 (GRCm39) |
T550A |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,906,161 (GRCm39) |
V785I |
possibly damaging |
Het |
| Sec24d |
T |
C |
3: 123,144,374 (GRCm39) |
V617A |
probably benign |
Het |
| Slc47a1 |
T |
C |
11: 61,235,160 (GRCm39) |
I558V |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,252,516 (GRCm39) |
M560L |
possibly damaging |
Het |
| Slfn9 |
G |
A |
11: 82,879,120 (GRCm39) |
T3I |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,294 (GRCm39) |
H35R |
probably damaging |
Het |
| Spats2 |
G |
T |
15: 99,110,010 (GRCm39) |
R469L |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
C |
T |
3: 146,144,512 (GRCm39) |
S592L |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,944,228 (GRCm39) |
T545A |
probably benign |
Het |
| Suz12 |
C |
T |
11: 79,913,023 (GRCm39) |
L379F |
probably damaging |
Het |
| Tbc1d24 |
C |
A |
17: 24,404,899 (GRCm39) |
V82L |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,898 (GRCm39) |
V82E |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,736,629 (GRCm39) |
I884T |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
| Togaram2 |
T |
C |
17: 72,007,878 (GRCm39) |
L401P |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,637,319 (GRCm39) |
N115K |
probably benign |
Het |
| Tubgcp4 |
G |
A |
2: 121,004,079 (GRCm39) |
S40N |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,833,021 (GRCm39) |
D157G |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,001,294 (GRCm39) |
F70Y |
probably damaging |
Het |
| Zfp791 |
T |
C |
8: 85,837,334 (GRCm39) |
I177V |
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 |
|
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 |
|
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'- TTTGGACTCAGCCATGCTCT -3'
(R):5'- GAGGGCAAGCATCCCAAAAT -3'
Sequencing Primer
(F):5'- CGCTTCAACAATCTCAGTTAGTATC -3'
(R):5'- GCATCCCAAAATACTCTAATAAGTCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation