Incidental Mutation 'R3940:Eogt'
| ID |
307408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
040922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R3940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97090875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 421
(I421M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054344]
[ENSMUST00000113387]
|
| AlphaFold |
Q8BYW9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054344
AA Change: I421M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: I421M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135187
|
| Meta Mutation Damage Score |
0.2343 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (35/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
| Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,789,192 (GRCm39) |
C260R |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,240,996 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
| Casq1 |
A |
G |
1: 172,047,103 (GRCm39) |
V52A |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
| Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
C |
T |
6: 126,510,614 (GRCm39) |
V505I |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,275 (GRCm39) |
D269V |
possibly damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
| Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
| S100a10 |
A |
G |
3: 93,468,383 (GRCm39) |
E38G |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,560,983 (GRCm39) |
I483F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
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 |
|
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 |
|
R8550:Eogt
|
UTSW |
6 |
97,089,033 (GRCm39) |
missense |
probably benign |
0.20 |
|
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'- AGACCTCAGACCTTTTAGCTCTAGG -3'
(R):5'- TGCCTTCAAGTTTTCATGGCAG -3'
Sequencing Primer
(F):5'- ACCATGGTGTCGCTTGAC -3'
(R):5'- CAAGTTTTCATGGCAGTGCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation