Incidental Mutation 'R7114:Eogt'
ID |
551678 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eogt
|
Ensembl Gene |
ENSMUSG00000035245 |
Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
Synonyms |
A130022J15Rik |
MMRRC Submission |
045244-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R7114 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97092965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 404
(Y404C)
|
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: Y404C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061610 Gene: ENSMUSG00000035245 AA Change: Y404C
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (59/60) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,900,445 (GRCm39) |
A1291T |
probably benign |
Het |
Anks1b |
G |
A |
10: 90,143,560 (GRCm39) |
R523Q |
probably damaging |
Het |
Arhgap12 |
T |
A |
18: 6,028,056 (GRCm39) |
I690F |
probably damaging |
Het |
Caln1 |
T |
C |
5: 130,868,124 (GRCm39) |
V220A |
possibly damaging |
Het |
Cd79b |
T |
A |
11: 106,202,713 (GRCm39) |
T263S |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,379,220 (GRCm39) |
K67N |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
Col25a1 |
A |
G |
3: 130,389,324 (GRCm39) |
I636V |
probably benign |
Het |
Col9a3 |
C |
T |
2: 180,245,590 (GRCm39) |
P154S |
unknown |
Het |
Cyp3a11 |
T |
A |
5: 145,795,593 (GRCm39) |
M453L |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Eno1b |
T |
C |
18: 48,180,560 (GRCm39) |
V246A |
possibly damaging |
Het |
Ephx3 |
T |
A |
17: 32,404,006 (GRCm39) |
E380V |
possibly damaging |
Het |
Fancl |
T |
C |
11: 26,357,615 (GRCm39) |
L114P |
probably damaging |
Het |
Flad1 |
C |
T |
3: 89,314,837 (GRCm39) |
G287S |
probably benign |
Het |
Gcm1 |
G |
T |
9: 77,967,061 (GRCm39) |
K93N |
probably damaging |
Het |
Golga3 |
T |
A |
5: 110,350,578 (GRCm39) |
D704E |
probably benign |
Het |
Grb14 |
A |
C |
2: 64,747,197 (GRCm39) |
I451S |
probably damaging |
Het |
Gtf3c3 |
T |
C |
1: 54,462,666 (GRCm39) |
N366D |
probably benign |
Het |
Hecw1 |
A |
T |
13: 14,486,356 (GRCm39) |
H376Q |
probably benign |
Het |
Helb |
A |
T |
10: 119,941,161 (GRCm39) |
V509E |
probably benign |
Het |
Hephl1 |
C |
T |
9: 14,981,111 (GRCm39) |
E774K |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,229,622 (GRCm39) |
E685G |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,894,519 (GRCm39) |
T2016A |
probably benign |
Het |
Igkv5-43 |
T |
G |
6: 69,800,515 (GRCm39) |
Q57H |
probably damaging |
Het |
Lamc3 |
T |
A |
2: 31,820,657 (GRCm39) |
V1224E |
probably damaging |
Het |
Lgals3bp |
C |
T |
11: 118,284,309 (GRCm39) |
W423* |
probably null |
Het |
Mcm9 |
G |
A |
10: 53,414,669 (GRCm39) |
T137I |
possibly damaging |
Het |
Mdga1 |
C |
A |
17: 30,061,816 (GRCm39) |
|
probably null |
Het |
Mocos |
C |
T |
18: 24,799,572 (GRCm39) |
P269S |
probably damaging |
Het |
Naa40 |
A |
G |
19: 7,207,322 (GRCm39) |
V134A |
probably damaging |
Het |
Neb |
G |
A |
2: 52,082,571 (GRCm39) |
L5680F |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,492,099 (GRCm39) |
V137A |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,642,112 (GRCm39) |
I784V |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,915,256 (GRCm39) |
S1147P |
possibly damaging |
Het |
Or10x4 |
A |
T |
1: 174,218,805 (GRCm39) |
M57L |
probably damaging |
Het |
Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
Plcb4 |
T |
A |
2: 135,824,043 (GRCm39) |
|
probably null |
Het |
Pomt1 |
C |
T |
2: 32,143,848 (GRCm39) |
T671I |
probably benign |
Het |
Pomt2 |
G |
T |
12: 87,157,150 (GRCm39) |
P723H |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,394,181 (GRCm39) |
Y1741* |
probably null |
Het |
Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
Slc36a4 |
T |
C |
9: 15,633,250 (GRCm39) |
F95L |
probably benign |
Het |
Smn1 |
C |
T |
13: 100,267,648 (GRCm39) |
P225S |
probably benign |
Het |
Snrpa |
A |
T |
7: 26,891,174 (GRCm39) |
I99N |
probably benign |
Het |
Tgm5 |
G |
T |
2: 120,878,977 (GRCm39) |
Y588* |
probably null |
Het |
Tmeff2 |
T |
A |
1: 51,224,404 (GRCm39) |
|
probably null |
Het |
Tmem120b |
T |
C |
5: 123,254,741 (GRCm39) |
F314S |
probably damaging |
Het |
Trim43b |
C |
T |
9: 88,967,661 (GRCm39) |
R325H |
probably benign |
Het |
Vmn1r26 |
C |
T |
6: 57,985,755 (GRCm39) |
A145T |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,693,531 (GRCm39) |
|
probably null |
Het |
Wnt5a |
C |
A |
14: 28,244,713 (GRCm39) |
T320K |
probably damaging |
Het |
Wrn |
AGCAGGTAATACATACCG |
AG |
8: 33,775,149 (GRCm39) |
|
probably null |
Het |
Zfp398 |
T |
C |
6: 47,842,910 (GRCm39) |
S321P |
probably benign |
Het |
Zfp959 |
T |
A |
17: 56,205,501 (GRCm39) |
C513S |
possibly damaging |
Het |
Zfr2 |
A |
G |
10: 81,080,559 (GRCm39) |
D411G |
probably damaging |
Het |
Zkscan5 |
T |
A |
5: 145,147,988 (GRCm39) |
|
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 |
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'- GGAGACCTCAGAAAGCTCAC -3'
(R):5'- AATACTGGTAACTTGCATGCGC -3'
Sequencing Primer
(F):5'- CCAGCTCCCCTGAACTTGAG -3'
(R):5'- CGCATGCATGAGTGTGC -3'
|
Posted On |
2019-05-15 |