Incidental Mutation 'R8550:Eogt'
| ID |
659821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
068515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R8550 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 97089033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 524
(H524Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054344]
[ENSMUST00000113387]
|
| AlphaFold |
Q8BYW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054344
AA Change: H524Q
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: H524Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:DUF563
|
245 |
472 |
1.3e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113387
|
| SMART Domains |
Protein: ENSMUSP00000109014
Gene: ENSMUSG00000035245
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,265,786 (GRCm39) |
K295* |
probably null |
Het |
| AB124611 |
A |
T |
9: 21,451,882 (GRCm39) |
D146V |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,942,599 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,593 (GRCm39) |
T449M |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| C1qc |
C |
T |
4: 136,617,587 (GRCm39) |
V170I |
possibly damaging |
Het |
| Ccl25 |
A |
G |
8: 4,377,890 (GRCm39) |
E50G |
possibly damaging |
Het |
| Clk1 |
A |
T |
1: 58,451,835 (GRCm39) |
Y427N |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,830,772 (GRCm39) |
C1707F |
probably damaging |
Het |
| Cyp4f17 |
G |
A |
17: 32,746,936 (GRCm39) |
V413I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,785,743 (GRCm39) |
W315R |
probably damaging |
Het |
| Degs1l |
A |
T |
1: 180,887,324 (GRCm39) |
D303V |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,290,652 (GRCm39) |
|
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,468,182 (GRCm39) |
A270T |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,240,654 (GRCm39) |
|
probably null |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,904 (GRCm39) |
S72R |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,803,064 (GRCm39) |
T7A |
probably damaging |
Het |
| Mapk8 |
A |
T |
14: 33,124,615 (GRCm39) |
I139N |
probably damaging |
Het |
| Metap1 |
G |
A |
3: 138,172,077 (GRCm39) |
A280V |
possibly damaging |
Het |
| Mrpl35 |
T |
C |
6: 71,793,259 (GRCm39) |
K131E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,188,924 (GRCm39) |
V802A |
probably benign |
Het |
| Nlrp3 |
T |
G |
11: 59,440,097 (GRCm39) |
V558G |
probably damaging |
Het |
| Nr3c1 |
A |
T |
18: 39,619,842 (GRCm39) |
N148K |
possibly damaging |
Het |
| Or3a1c |
A |
C |
11: 74,046,015 (GRCm39) |
I12L |
probably benign |
Het |
| Padi6 |
T |
C |
4: 140,460,014 (GRCm39) |
K359R |
probably benign |
Het |
| Rexo5 |
A |
G |
7: 119,400,568 (GRCm39) |
T118A |
probably benign |
Het |
| Serpine1 |
A |
G |
5: 137,092,352 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,306,205 (GRCm39) |
I485T |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,511,739 (GRCm39) |
L441F |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,014,774 (GRCm39) |
D418V |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,623,063 (GRCm39) |
V511A |
possibly damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,225 (GRCm39) |
T21A |
probably damaging |
Het |
| Tia1 |
A |
G |
6: 86,402,684 (GRCm39) |
M232V |
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,837,745 (GRCm39) |
T522A |
probably benign |
Het |
| Top2a |
A |
T |
11: 98,886,744 (GRCm39) |
D1336E |
probably benign |
Het |
| Trav3-1 |
A |
C |
14: 52,818,390 (GRCm39) |
R21S |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,689,329 (GRCm39) |
|
probably benign |
Het |
| Vmn1r119 |
A |
T |
7: 20,745,980 (GRCm39) |
V134D |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,400,320 (GRCm39) |
M262T |
probably benign |
Het |
|
| Other mutations in Eogt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Eogt
|
APN |
6 |
97,096,961 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01292:Eogt
|
APN |
6 |
97,120,988 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02332:Eogt
|
APN |
6 |
97,102,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02439:Eogt
|
APN |
6 |
97,120,934 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
disappointment
|
UTSW |
6 |
97,120,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
lovelorn
|
UTSW |
6 |
97,090,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mournful
|
UTSW |
6 |
97,095,915 (GRCm39) |
splice site |
probably null |
|
|
predawn
|
UTSW |
6 |
97,112,245 (GRCm39) |
splice site |
probably benign |
|
|
Underachiever
|
UTSW |
6 |
97,097,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0019:Eogt
|
UTSW |
6 |
97,111,234 (GRCm39) |
unclassified |
probably benign |
|
|
R0112:Eogt
|
UTSW |
6 |
97,112,245 (GRCm39) |
splice site |
probably benign |
|
|
R0325:Eogt
|
UTSW |
6 |
97,090,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0497:Eogt
|
UTSW |
6 |
97,112,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0730:Eogt
|
UTSW |
6 |
97,092,970 (GRCm39) |
nonsense |
probably null |
|
|
R1730:Eogt
|
UTSW |
6 |
97,090,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Eogt
|
UTSW |
6 |
97,090,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Eogt
|
UTSW |
6 |
97,108,337 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2279:Eogt
|
UTSW |
6 |
97,111,262 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2679:Eogt
|
UTSW |
6 |
97,097,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2993:Eogt
|
UTSW |
6 |
97,095,915 (GRCm39) |
splice site |
probably null |
|
|
R3176:Eogt
|
UTSW |
6 |
97,108,355 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3276:Eogt
|
UTSW |
6 |
97,108,355 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3876:Eogt
|
UTSW |
6 |
97,097,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3940:Eogt
|
UTSW |
6 |
97,090,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Eogt
|
UTSW |
6 |
97,111,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4704:Eogt
|
UTSW |
6 |
97,090,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4849:Eogt
|
UTSW |
6 |
97,093,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4867:Eogt
|
UTSW |
6 |
97,097,108 (GRCm39) |
intron |
probably benign |
|
|
R4905:Eogt
|
UTSW |
6 |
97,119,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5120:Eogt
|
UTSW |
6 |
97,111,276 (GRCm39) |
missense |
probably benign |
|
|
R5143:Eogt
|
UTSW |
6 |
97,102,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Eogt
|
UTSW |
6 |
97,092,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6351:Eogt
|
UTSW |
6 |
97,097,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Eogt
|
UTSW |
6 |
97,122,353 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6498:Eogt
|
UTSW |
6 |
97,112,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Eogt
|
UTSW |
6 |
97,111,343 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7114:Eogt
|
UTSW |
6 |
97,092,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Eogt
|
UTSW |
6 |
97,097,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Eogt
|
UTSW |
6 |
97,089,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Eogt
|
UTSW |
6 |
97,096,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7467:Eogt
|
UTSW |
6 |
97,119,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7526:Eogt
|
UTSW |
6 |
97,090,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Eogt
|
UTSW |
6 |
97,090,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Eogt
|
UTSW |
6 |
97,097,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7956:Eogt
|
UTSW |
6 |
97,120,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8021:Eogt
|
UTSW |
6 |
97,111,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8475:Eogt
|
UTSW |
6 |
97,122,327 (GRCm39) |
nonsense |
probably null |
|
|
R8508:Eogt
|
UTSW |
6 |
97,120,959 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8854:Eogt
|
UTSW |
6 |
97,108,359 (GRCm39) |
nonsense |
probably null |
|
|
R9149:Eogt
|
UTSW |
6 |
97,090,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Eogt
|
UTSW |
6 |
97,089,043 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9500:Eogt
|
UTSW |
6 |
97,096,992 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAAGACTTAGCATCTCCTGG -3'
(R):5'- TCTATAGAAAGACACACCCTTCGG -3'
Sequencing Primer
(F):5'- AAGGTGAGCACTCAGTTGGCTC -3'
(R):5'- GGTGACTCCGGGATTTTGTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation