Incidental Mutation 'R5776:Oga'
| ID |
446734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oga
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
O-GlcNAcase |
| Synonyms |
4833427O07Rik, 5830447M11Rik, Mgea5, 2810009A20Rik, Hy5 |
| MMRRC Submission |
043375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5776 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
45738698-45772274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45760363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 265
(E265G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026243
AA Change: E265G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: E265G
| 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 |
|
| Meta Mutation Damage Score |
0.4219 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
98% (64/65) |
| 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 |
|---|
| Aass |
A |
T |
6: 23,107,649 (GRCm39) |
M378K |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,514,132 (GRCm39) |
V857A |
probably benign |
Het |
| Abca9 |
C |
T |
11: 109,998,286 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
C |
5: 8,177,361 (GRCm39) |
K583E |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,186 (GRCm39) |
F80L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,056,149 (GRCm39) |
I1511F |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,665 (GRCm39) |
E1811G |
possibly damaging |
Het |
| Cfh |
C |
A |
1: 140,071,761 (GRCm39) |
R291I |
possibly damaging |
Het |
| Col1a1 |
C |
T |
11: 94,840,550 (GRCm39) |
S1114F |
unknown |
Het |
| Ctsj |
T |
C |
13: 61,150,956 (GRCm39) |
D168G |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,945,534 (GRCm39) |
D79G |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,083 (GRCm39) |
N629S |
possibly damaging |
Het |
| Fbxo9 |
T |
C |
9: 78,002,469 (GRCm39) |
E204G |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,778 (GRCm39) |
V9L |
possibly damaging |
Het |
| Gfer |
G |
T |
17: 24,915,027 (GRCm39) |
S5R |
probably benign |
Het |
| Gm15931 |
A |
T |
7: 4,284,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
T |
A |
5: 146,105,691 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,344,828 (GRCm39) |
N234K |
possibly damaging |
Het |
| Hcn3 |
C |
T |
3: 89,055,412 (GRCm39) |
A612T |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,810,897 (GRCm39) |
E1679D |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,405 (GRCm39) |
L285P |
probably damaging |
Het |
| Igsf3 |
G |
A |
3: 101,332,796 (GRCm39) |
V25I |
probably benign |
Het |
| Jade1 |
A |
G |
3: 41,568,227 (GRCm39) |
H765R |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,963 (GRCm39) |
D25G |
unknown |
Het |
| Klhl3 |
A |
G |
13: 58,152,998 (GRCm39) |
S586P |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,569,072 (GRCm39) |
D582G |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,431,765 (GRCm39) |
C835Y |
probably damaging |
Het |
| Naa15 |
A |
C |
3: 51,367,447 (GRCm39) |
D490A |
probably damaging |
Het |
| Nab2 |
T |
A |
10: 127,500,198 (GRCm39) |
Y298F |
probably damaging |
Het |
| Nipsnap1 |
T |
A |
11: 4,838,919 (GRCm39) |
M115K |
probably benign |
Het |
| Nlrp5-ps |
T |
C |
7: 14,326,649 (GRCm39) |
|
noncoding transcript |
Het |
| Nol4l |
T |
G |
2: 153,259,741 (GRCm39) |
Q211P |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,246 (GRCm39) |
M97K |
probably damaging |
Het |
| Or6k14 |
A |
T |
1: 173,927,339 (GRCm39) |
H105L |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,409 (GRCm39) |
K2970E |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,983 (GRCm39) |
T683A |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,362,454 (GRCm39) |
D282G |
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,576,901 (GRCm39) |
S10P |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,529,315 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,268,325 (GRCm39) |
V935A |
possibly damaging |
Het |
| Reg4 |
T |
A |
3: 98,140,344 (GRCm39) |
D108E |
possibly damaging |
Het |
| Saraf |
T |
A |
8: 34,632,604 (GRCm39) |
Y228N |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,984,137 (GRCm39) |
S357P |
probably damaging |
Het |
| Sec22b |
A |
T |
3: 97,821,884 (GRCm39) |
N139Y |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,398,823 (GRCm39) |
I1037F |
probably damaging |
Het |
| Skint5 |
A |
C |
4: 113,620,700 (GRCm39) |
S671R |
unknown |
Het |
| Slc38a3 |
C |
A |
9: 107,535,948 (GRCm39) |
E62* |
probably null |
Het |
| Slfn14 |
C |
T |
11: 83,174,425 (GRCm39) |
E189K |
probably damaging |
Het |
| Sox21 |
A |
G |
14: 118,472,656 (GRCm39) |
L131P |
probably damaging |
Het |
| Stip1 |
A |
G |
19: 6,999,393 (GRCm39) |
|
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Susd1 |
T |
C |
4: 59,315,363 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,005,689 (GRCm39) |
D498E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,165,532 (GRCm39) |
E1053K |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,692,211 (GRCm39) |
D103G |
probably damaging |
Het |
| Txndc15 |
A |
G |
13: 55,865,920 (GRCm39) |
E128G |
probably benign |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,673 (GRCm39) |
W306R |
probably damaging |
Het |
| Yjefn3 |
A |
T |
8: 70,342,121 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp641 |
T |
C |
15: 98,186,891 (GRCm39) |
D244G |
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 |
|
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 |
|
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'- GCAAGGGTGTGTATGGCAAC -3'
(R):5'- TTGAATGCTTGGCTGAATGTACATC -3'
Sequencing Primer
(F):5'- TTGTAGGGACCCAGAAAC -3'
(R):5'- GGGATTGAACTCAGCTTGTCAACC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation