Incidental Mutation 'R3176:Eogt'
| ID |
475991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
040614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R3176 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
97110024-97149182 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97131394 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 229
(I229F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054344]
[ENSMUST00000113387]
[ENSMUST00000136575]
|
| AlphaFold |
Q8BYW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054344
AA Change: I229F
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: I229F
| 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: ENSMUST00000135187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136575
|
| SMART Domains |
Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3070 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (28/28) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
C |
T |
8: 86,506,866 (GRCm38) |
R1269H |
probably damaging |
Het |
| Ace |
A |
G |
11: 105,976,702 (GRCm38) |
E164G |
probably null |
Het |
| Als2 |
A |
T |
1: 59,170,008 (GRCm38) |
V1464E |
possibly damaging |
Het |
| Atox1 |
A |
G |
11: 55,450,553 (GRCm38) |
L52P |
possibly damaging |
Het |
| Btnl10 |
A |
G |
11: 58,922,390 (GRCm38) |
K282E |
probably benign |
Het |
| Cdkn3 |
T |
C |
14: 46,771,477 (GRCm38) |
|
probably benign |
Het |
| Ces2a |
A |
G |
8: 104,739,378 (GRCm38) |
|
probably benign |
Het |
| Col16a1 |
A |
G |
4: 130,057,999 (GRCm38) |
K72E |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,911,107 (GRCm38) |
R1565* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,786,230 (GRCm38) |
H36R |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,625,850 (GRCm38) |
N415D |
possibly damaging |
Het |
| Dcp1a |
A |
G |
14: 30,505,542 (GRCm38) |
|
probably benign |
Het |
| Dennd4a |
G |
T |
9: 64,888,993 (GRCm38) |
R767L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,561,239 (GRCm38) |
F25L |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,923,940 (GRCm38) |
T219A |
probably benign |
Het |
| Dhx58 |
A |
G |
11: 100,696,979 (GRCm38) |
F584S |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 131,088,071 (GRCm38) |
T715A |
probably benign |
Het |
| Dtx3l |
A |
G |
16: 35,932,173 (GRCm38) |
S688P |
probably benign |
Het |
| Ern2 |
T |
C |
7: 122,180,964 (GRCm38) |
T164A |
possibly damaging |
Het |
| Fam133b |
A |
T |
5: 3,558,522 (GRCm38) |
N84I |
probably damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,537,122 (GRCm38) |
Y346* |
probably null |
Het |
| Fcgbp |
C |
A |
7: 28,091,661 (GRCm38) |
H782Q |
probably damaging |
Het |
| Gm11492 |
T |
C |
11: 87,567,244 (GRCm38) |
V148A |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 41,288,380 (GRCm38) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,244,315 (GRCm38) |
T91A |
possibly damaging |
Het |
| Hao2 |
T |
C |
3: 98,880,328 (GRCm38) |
|
probably benign |
Het |
| Hsp90aa1 |
C |
A |
12: 110,695,681 (GRCm38) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,695,680 (GRCm38) |
M1L |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 128,190,981 (GRCm38) |
H651N |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,776,542 (GRCm38) |
D409G |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,609,639 (GRCm38) |
N1119S |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,987,840 (GRCm38) |
|
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,682,063 (GRCm38) |
I207V |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Lhfpl5 |
T |
C |
17: 28,579,946 (GRCm38) |
I143T |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 66,305,521 (GRCm38) |
K431E |
possibly damaging |
Het |
| Mag |
C |
T |
7: 30,901,648 (GRCm38) |
|
probably null |
Het |
| Maml3 |
A |
T |
3: 51,856,930 (GRCm38) |
N204K |
possibly damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,964,066 (GRCm38) |
S115G |
probably damaging |
Het |
| Mthfd1l |
G |
C |
10: 4,148,025 (GRCm38) |
G954A |
probably damaging |
Het |
| Mut |
A |
G |
17: 40,958,872 (GRCm38) |
|
probably null |
Het |
| Myo19 |
A |
G |
11: 84,892,175 (GRCm38) |
I172V |
probably benign |
Het |
| Naca |
T |
C |
10: 128,040,661 (GRCm38) |
|
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,636,887 (GRCm38) |
|
probably benign |
Het |
| Nfatc2 |
T |
C |
2: 168,506,994 (GRCm38) |
N638D |
possibly damaging |
Het |
| Olfr1412 |
A |
G |
1: 92,588,813 (GRCm38) |
N161S |
probably benign |
Het |
| Olfr584 |
C |
A |
7: 103,085,750 (GRCm38) |
D72E |
probably damaging |
Het |
| Olfr913 |
T |
A |
9: 38,594,643 (GRCm38) |
C141S |
probably damaging |
Het |
| Padi6 |
A |
G |
4: 140,735,389 (GRCm38) |
L307P |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,690,232 (GRCm38) |
S57F |
probably damaging |
Het |
| Prcd |
A |
G |
11: 116,659,811 (GRCm38) |
E103G |
possibly damaging |
Het |
| Prkx |
A |
T |
X: 77,771,275 (GRCm38) |
F260I |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,753,943 (GRCm38) |
|
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,249,366 (GRCm38) |
M1003K |
probably benign |
Het |
| Scap |
A |
T |
9: 110,374,025 (GRCm38) |
M256L |
probably benign |
Het |
| Sema4c |
C |
T |
1: 36,549,879 (GRCm38) |
R722H |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,996,601 (GRCm38) |
R171W |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,577,329 (GRCm38) |
F434C |
probably benign |
Het |
| Spata7 |
A |
G |
12: 98,637,598 (GRCm38) |
N75D |
possibly damaging |
Het |
| Tmem120b |
T |
A |
5: 123,114,104 (GRCm38) |
I146N |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,232 (GRCm38) |
F99L |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 59,276,519 (GRCm38) |
C348* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,421,855 (GRCm38) |
D1777E |
probably benign |
Het |
| Unc79 |
C |
A |
12: 103,113,217 (GRCm38) |
D1880E |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,276,759 (GRCm38) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 13,277,270 (GRCm38) |
T51A |
possibly damaging |
Het |
|
| Other mutations in Eogt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Eogt
|
APN |
6 |
97,120,000 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01292:Eogt
|
APN |
6 |
97,144,027 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02332:Eogt
|
APN |
6 |
97,125,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02439:Eogt
|
APN |
6 |
97,143,973 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
disappointment
|
UTSW |
6 |
97,143,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
lovelorn
|
UTSW |
6 |
97,113,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
mournful
|
UTSW |
6 |
97,118,954 (GRCm38) |
splice site |
probably null |
|
|
predawn
|
UTSW |
6 |
97,135,284 (GRCm38) |
splice site |
probably benign |
|
|
Underachiever
|
UTSW |
6 |
97,120,201 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0019:Eogt
|
UTSW |
6 |
97,134,273 (GRCm38) |
unclassified |
probably benign |
|
|
R0112:Eogt
|
UTSW |
6 |
97,135,284 (GRCm38) |
splice site |
probably benign |
|
|
R0325:Eogt
|
UTSW |
6 |
97,113,955 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0497:Eogt
|
UTSW |
6 |
97,135,233 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0730:Eogt
|
UTSW |
6 |
97,116,009 (GRCm38) |
nonsense |
probably null |
|
|
R1730:Eogt
|
UTSW |
6 |
97,113,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1783:Eogt
|
UTSW |
6 |
97,113,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2074:Eogt
|
UTSW |
6 |
97,131,376 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2279:Eogt
|
UTSW |
6 |
97,134,301 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2679:Eogt
|
UTSW |
6 |
97,120,800 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2993:Eogt
|
UTSW |
6 |
97,118,954 (GRCm38) |
splice site |
probably null |
|
|
R3276:Eogt
|
UTSW |
6 |
97,131,394 (GRCm38) |
missense |
probably benign |
0.21 |
|
R3876:Eogt
|
UTSW |
6 |
97,120,190 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3940:Eogt
|
UTSW |
6 |
97,113,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4613:Eogt
|
UTSW |
6 |
97,134,304 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4704:Eogt
|
UTSW |
6 |
97,113,852 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4849:Eogt
|
UTSW |
6 |
97,116,055 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4867:Eogt
|
UTSW |
6 |
97,120,147 (GRCm38) |
intron |
probably benign |
|
|
R4905:Eogt
|
UTSW |
6 |
97,142,831 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5120:Eogt
|
UTSW |
6 |
97,134,315 (GRCm38) |
missense |
probably benign |
|
|
R5143:Eogt
|
UTSW |
6 |
97,125,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5594:Eogt
|
UTSW |
6 |
97,116,035 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6351:Eogt
|
UTSW |
6 |
97,120,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6418:Eogt
|
UTSW |
6 |
97,145,392 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6498:Eogt
|
UTSW |
6 |
97,135,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6950:Eogt
|
UTSW |
6 |
97,134,382 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7114:Eogt
|
UTSW |
6 |
97,116,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7185:Eogt
|
UTSW |
6 |
97,120,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7221:Eogt
|
UTSW |
6 |
97,112,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7232:Eogt
|
UTSW |
6 |
97,119,983 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7467:Eogt
|
UTSW |
6 |
97,142,833 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7526:Eogt
|
UTSW |
6 |
97,113,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7672:Eogt
|
UTSW |
6 |
97,113,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7851:Eogt
|
UTSW |
6 |
97,120,201 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7956:Eogt
|
UTSW |
6 |
97,143,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8021:Eogt
|
UTSW |
6 |
97,134,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8475:Eogt
|
UTSW |
6 |
97,145,366 (GRCm38) |
nonsense |
probably null |
|
|
R8508:Eogt
|
UTSW |
6 |
97,143,998 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8550:Eogt
|
UTSW |
6 |
97,112,072 (GRCm38) |
missense |
probably benign |
0.20 |
|
R8854:Eogt
|
UTSW |
6 |
97,131,398 (GRCm38) |
nonsense |
probably null |
|
|
R9149:Eogt
|
UTSW |
6 |
97,113,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9258:Eogt
|
UTSW |
6 |
97,112,082 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9500:Eogt
|
UTSW |
6 |
97,120,031 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation