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 transferase |
Synonyms |
A130022J15Rik |
MMRRC Submission |
040614-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R3176 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97108355 bp (GRCm39)
|
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: 87,233,495 (GRCm39) |
R1269H |
probably damaging |
Het |
Ace |
A |
G |
11: 105,867,528 (GRCm39) |
E164G |
probably null |
Het |
Als2 |
A |
T |
1: 59,209,167 (GRCm39) |
V1464E |
possibly damaging |
Het |
Atox1 |
A |
G |
11: 55,341,379 (GRCm39) |
L52P |
possibly damaging |
Het |
Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
Cdkn3 |
T |
C |
14: 47,008,934 (GRCm39) |
|
probably benign |
Het |
Ces2a |
A |
G |
8: 105,466,010 (GRCm39) |
|
probably benign |
Het |
Col16a1 |
A |
G |
4: 129,951,792 (GRCm39) |
K72E |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,429 (GRCm39) |
H36R |
probably benign |
Het |
Cyp4b1 |
T |
C |
4: 115,483,047 (GRCm39) |
N415D |
possibly damaging |
Het |
Dcp1a |
A |
G |
14: 30,227,499 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,418,436 (GRCm39) |
F25L |
probably benign |
Het |
Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
Dhx58 |
A |
G |
11: 100,587,805 (GRCm39) |
F584S |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,689,801 (GRCm39) |
T715A |
probably benign |
Het |
Dtx3l |
A |
G |
16: 35,752,543 (GRCm39) |
S688P |
probably benign |
Het |
Ern2 |
T |
C |
7: 121,780,187 (GRCm39) |
T164A |
possibly damaging |
Het |
Fam133b |
A |
T |
5: 3,608,522 (GRCm39) |
N84I |
probably damaging |
Het |
Fbxl21 |
T |
A |
13: 56,684,935 (GRCm39) |
Y346* |
probably null |
Het |
Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
Hao2 |
T |
C |
3: 98,787,644 (GRCm39) |
|
probably benign |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,537,377 (GRCm39) |
N1119S |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,816,905 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,682,063 (GRCm39) |
I207V |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lhfpl5 |
T |
C |
17: 28,798,920 (GRCm39) |
I143T |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,955,269 (GRCm39) |
K431E |
possibly damaging |
Het |
Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
Maml3 |
A |
T |
3: 51,764,351 (GRCm39) |
N204K |
possibly damaging |
Het |
Mmut |
A |
G |
17: 41,269,763 (GRCm39) |
|
probably null |
Het |
Mrpl19 |
T |
C |
6: 81,941,047 (GRCm39) |
S115G |
probably damaging |
Het |
Mthfd1l |
G |
C |
10: 4,098,025 (GRCm39) |
G954A |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,783,001 (GRCm39) |
I172V |
probably benign |
Het |
Naca |
T |
C |
10: 127,876,530 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,465,955 (GRCm39) |
|
probably benign |
Het |
Nfatc2 |
T |
C |
2: 168,348,914 (GRCm39) |
N638D |
possibly damaging |
Het |
Or52r1c |
C |
A |
7: 102,734,957 (GRCm39) |
D72E |
probably damaging |
Het |
Or8b49 |
T |
A |
9: 38,505,939 (GRCm39) |
C141S |
probably damaging |
Het |
Or9s27 |
A |
G |
1: 92,516,535 (GRCm39) |
N161S |
probably benign |
Het |
Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
Prcd |
A |
G |
11: 116,550,637 (GRCm39) |
E103G |
possibly damaging |
Het |
Prkx |
A |
T |
X: 76,814,881 (GRCm39) |
F260I |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,631,142 (GRCm39) |
|
probably null |
Het |
Rb1cc1 |
T |
A |
1: 6,319,590 (GRCm39) |
M1003K |
probably benign |
Het |
Scap |
A |
T |
9: 110,203,093 (GRCm39) |
M256L |
probably benign |
Het |
Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
possibly damaging |
Het |
Septin4 |
T |
C |
11: 87,458,070 (GRCm39) |
V148A |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Spata7 |
A |
G |
12: 98,603,857 (GRCm39) |
N75D |
possibly damaging |
Het |
Tmem120b |
T |
A |
5: 123,252,167 (GRCm39) |
I146N |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
Ube3a |
T |
A |
7: 58,926,267 (GRCm39) |
C348* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,149,166 (GRCm39) |
D1777E |
probably benign |
Het |
Unc79 |
C |
A |
12: 103,079,476 (GRCm39) |
D1880E |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
possibly damaging |
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 |
|
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 |
|
Posted On |
2017-05-11 |