Incidental Mutation 'R2679:Eogt'
ID |
250749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eogt
|
Ensembl Gene |
ENSMUSG00000035245 |
Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
Synonyms |
A130022J15Rik |
MMRRC Submission |
040432-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R2679 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97097761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 279
(T279I)
|
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: T279I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000061610 Gene: ENSMUSG00000035245 AA Change: T279I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
97% (67/69) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asic2 |
A |
G |
11: 81,042,780 (GRCm39) |
V171A |
probably benign |
Het |
Atf7ip |
A |
T |
6: 136,543,649 (GRCm39) |
I641L |
possibly damaging |
Het |
Atrn |
G |
A |
2: 130,803,595 (GRCm39) |
|
probably null |
Het |
Bpifb4 |
T |
C |
2: 153,790,544 (GRCm39) |
I145T |
probably damaging |
Het |
Bub3 |
A |
G |
7: 131,170,454 (GRCm39) |
|
probably null |
Het |
Catsperb |
T |
A |
12: 101,429,404 (GRCm39) |
D192E |
probably damaging |
Het |
Ccdc178 |
G |
A |
18: 21,944,613 (GRCm39) |
H849Y |
possibly damaging |
Het |
Cd101 |
G |
T |
3: 100,901,079 (GRCm39) |
Q998K |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,772,507 (GRCm39) |
M631L |
probably benign |
Het |
Cit |
T |
C |
5: 116,107,174 (GRCm39) |
V1102A |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,507,332 (GRCm39) |
T249M |
unknown |
Het |
Cpne6 |
A |
T |
14: 55,753,786 (GRCm39) |
I415F |
possibly damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,485,894 (GRCm39) |
I348V |
probably benign |
Het |
Defb28 |
T |
C |
2: 152,360,202 (GRCm39) |
S6P |
possibly damaging |
Het |
Dhrs7b |
A |
G |
11: 60,743,344 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,083,910 (GRCm39) |
|
probably null |
Het |
Egfem1 |
A |
G |
3: 29,724,825 (GRCm39) |
T476A |
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,396,279 (GRCm39) |
D397G |
probably damaging |
Het |
Fnip2 |
G |
A |
3: 79,388,233 (GRCm39) |
H833Y |
probably benign |
Het |
Gabrr2 |
A |
T |
4: 33,071,435 (GRCm39) |
T92S |
probably damaging |
Het |
Gm10110 |
T |
A |
14: 90,134,852 (GRCm39) |
|
noncoding transcript |
Het |
Gria2 |
A |
G |
3: 80,648,260 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,528,326 (GRCm39) |
T3274N |
possibly damaging |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,176,279 (GRCm39) |
K569E |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,372 (GRCm39) |
Y46C |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,959,136 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,880,745 (GRCm39) |
R552* |
probably null |
Het |
Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,577,846 (GRCm39) |
D2374E |
unknown |
Het |
Myl9 |
T |
A |
2: 156,622,426 (GRCm39) |
L70Q |
probably damaging |
Het |
Nebl |
C |
T |
2: 17,429,402 (GRCm39) |
S243N |
probably benign |
Het |
Nfat5 |
A |
G |
8: 108,071,546 (GRCm39) |
Y314C |
probably damaging |
Het |
Nr2f6 |
T |
A |
8: 71,827,380 (GRCm39) |
D307V |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,824,237 (GRCm39) |
S781P |
probably benign |
Het |
Nub1 |
C |
T |
5: 24,897,923 (GRCm39) |
T103I |
possibly damaging |
Het |
Or4b1d |
A |
T |
2: 89,968,889 (GRCm39) |
V198D |
possibly damaging |
Het |
Or51h5 |
T |
A |
7: 102,577,238 (GRCm39) |
Y134* |
probably null |
Het |
Pex5l |
A |
T |
3: 33,136,201 (GRCm39) |
M6K |
probably benign |
Het |
Pgm3 |
A |
C |
9: 86,451,374 (GRCm39) |
C93W |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,279,406 (GRCm39) |
S2971P |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,408,782 (GRCm39) |
L2423P |
probably damaging |
Het |
Prkce |
A |
G |
17: 86,483,654 (GRCm39) |
|
probably benign |
Het |
Ptbp3 |
A |
G |
4: 59,494,615 (GRCm39) |
|
probably benign |
Het |
Ptgis |
T |
A |
2: 167,050,113 (GRCm39) |
M339L |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,025,568 (GRCm39) |
|
probably benign |
Het |
Rab44 |
T |
A |
17: 29,363,451 (GRCm39) |
|
probably null |
Het |
Ric1 |
A |
G |
19: 29,581,430 (GRCm39) |
S1275G |
probably benign |
Het |
Rnf213 |
C |
A |
11: 119,350,764 (GRCm39) |
|
probably null |
Het |
Rtn4rl1 |
A |
T |
11: 75,156,552 (GRCm39) |
E328V |
probably benign |
Het |
Saraf |
C |
T |
8: 34,632,428 (GRCm39) |
T169I |
probably damaging |
Het |
Sbk2 |
T |
A |
7: 4,960,119 (GRCm39) |
|
probably null |
Het |
Setd1a |
T |
G |
7: 127,394,896 (GRCm39) |
|
probably benign |
Het |
Sit1 |
A |
G |
4: 43,483,157 (GRCm39) |
Y73H |
probably damaging |
Het |
Slc44a4 |
T |
C |
17: 35,142,399 (GRCm39) |
|
probably benign |
Het |
Spopfm1 |
A |
T |
3: 94,173,217 (GRCm39) |
Y75F |
probably damaging |
Het |
Tas2r125 |
A |
G |
6: 132,887,190 (GRCm39) |
T193A |
probably benign |
Het |
Tbc1d9b |
T |
A |
11: 50,052,528 (GRCm39) |
|
probably null |
Het |
Tcf7l1 |
G |
T |
6: 72,604,403 (GRCm39) |
H580Q |
probably benign |
Het |
Tead1 |
T |
G |
7: 112,456,053 (GRCm39) |
S115A |
probably damaging |
Het |
Top2b |
G |
A |
14: 16,413,947 (GRCm38) |
G29D |
probably damaging |
Het |
Trpv4 |
A |
T |
5: 114,773,613 (GRCm39) |
C250S |
probably damaging |
Het |
U2surp |
A |
C |
9: 95,358,285 (GRCm39) |
I655S |
possibly damaging |
Het |
Ube2a |
G |
A |
X: 36,138,360 (GRCm39) |
|
probably benign |
Het |
Ubl7 |
A |
G |
9: 57,821,882 (GRCm39) |
D77G |
probably damaging |
Het |
Vmn1r91 |
T |
C |
7: 19,835,983 (GRCm39) |
C301R |
probably damaging |
Het |
Vmn2r90 |
A |
T |
17: 17,933,131 (GRCm39) |
R230S |
possibly damaging |
Het |
Wdfy3 |
T |
A |
5: 102,017,902 (GRCm39) |
E2560V |
probably damaging |
Het |
Zfp273 |
C |
T |
13: 67,973,895 (GRCm39) |
A341V |
probably benign |
Het |
Zfp512 |
C |
T |
5: 31,622,798 (GRCm39) |
A33V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCATGAAGTCAGAGCGATG -3'
(R):5'- TATTCAACGGGGAGGATATGC -3'
Sequencing Primer
(F):5'- CCATGAAGTCAGAGCGATGGTAAC -3'
(R):5'- ATTCAACGGGGAGGATATGCATTTG -3'
|
Posted On |
2014-12-04 |