Incidental Mutation 'IGL00911:Eogt'
| ID |
27599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
IGL00911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97096961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 349
(V349E)
|
| 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: V349E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: V349E
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
| Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,100,094 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,727,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
| Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
| Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,617,338 (GRCm39) |
Y367H |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
| Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
| Pcgf1 |
G |
A |
6: 83,057,606 (GRCm39) |
G92S |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,169 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
| Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
| Poll |
G |
T |
19: 45,542,040 (GRCm39) |
T422K |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,113,106 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
| Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
Het |
|
| Other mutations in Eogt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation