Incidental Mutation 'IGL02332:Eogt'
| ID |
288739 |
| 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: 0.188)
|
| Stock # |
IGL02332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 97102566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 249
(H249P)
|
| 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: H249P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: H249P
| 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
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B24Rik |
A |
G |
3: 48,563,323 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
A |
T |
11: 9,241,482 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,775 (GRCm39) |
I560F |
probably damaging |
Het |
| Bivm |
T |
C |
1: 44,167,880 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
C |
A |
4: 68,823,121 (GRCm39) |
R24L |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,761,829 (GRCm39) |
Y562H |
probably damaging |
Het |
| Cr2 |
C |
A |
1: 194,842,630 (GRCm39) |
Q256H |
probably benign |
Het |
| Dhcr7 |
A |
T |
7: 143,396,865 (GRCm39) |
N119I |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,150,978 (GRCm39) |
Y169N |
probably damaging |
Het |
| Dmbt1 |
C |
T |
7: 130,668,343 (GRCm39) |
|
probably benign |
Het |
| Ermard |
A |
C |
17: 15,210,807 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
C |
6: 33,226,175 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
G |
T |
11: 69,540,664 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
G |
T |
16: 4,836,817 (GRCm39) |
T443N |
probably damaging |
Het |
| Gm14137 |
T |
G |
2: 119,005,807 (GRCm39) |
L122R |
probably damaging |
Het |
| Gm4845 |
C |
A |
1: 141,184,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8258 |
A |
G |
5: 104,923,768 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
G |
A |
3: 63,897,990 (GRCm39) |
R258H |
probably benign |
Het |
| Itga6 |
T |
G |
2: 71,668,717 (GRCm39) |
L552R |
possibly damaging |
Het |
| Itgam |
T |
A |
7: 127,684,846 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
G |
T |
16: 33,740,500 (GRCm39) |
E224* |
probably null |
Het |
| Itih4 |
C |
A |
14: 30,609,817 (GRCm39) |
A49D |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,328,040 (GRCm39) |
N64K |
probably damaging |
Het |
| Moap1 |
T |
C |
12: 102,709,066 (GRCm39) |
Y161C |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,785,025 (GRCm39) |
G228* |
probably null |
Het |
| Myo1g |
T |
C |
11: 6,470,766 (GRCm39) |
D30G |
possibly damaging |
Het |
| Ndn |
T |
A |
7: 61,998,573 (GRCm39) |
C140S |
probably damaging |
Het |
| Nek5 |
G |
T |
8: 22,585,277 (GRCm39) |
Q367K |
probably benign |
Het |
| Nrdc |
A |
T |
4: 108,858,185 (GRCm39) |
R52S |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,634,571 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,127 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,556 (GRCm39) |
D3G |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,409 (GRCm39) |
L200Q |
probably damaging |
Het |
| P2rx2 |
T |
C |
5: 110,489,671 (GRCm39) |
S116G |
probably benign |
Het |
| Pcdhb13 |
G |
A |
18: 37,576,635 (GRCm39) |
V338M |
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,466,982 (GRCm39) |
Y70* |
probably null |
Het |
| Ppm1e |
T |
C |
11: 87,122,568 (GRCm39) |
H463R |
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,731,951 (GRCm39) |
C134S |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,057,602 (GRCm39) |
F180L |
possibly damaging |
Het |
| Pxn |
A |
G |
5: 115,682,985 (GRCm39) |
S96G |
probably benign |
Het |
| Rasa4 |
G |
T |
5: 136,124,453 (GRCm39) |
Q167H |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,757,640 (GRCm39) |
I43V |
possibly damaging |
Het |
| Sez6 |
C |
T |
11: 77,845,568 (GRCm39) |
|
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,722,880 (GRCm39) |
D473E |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,842,885 (GRCm39) |
D68G |
probably damaging |
Het |
| Syt13 |
T |
C |
2: 92,771,149 (GRCm39) |
F79L |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,475 (GRCm39) |
M197K |
probably benign |
Het |
| Tbrg4 |
A |
G |
11: 6,568,492 (GRCm39) |
V429A |
probably damaging |
Het |
| Tuft1 |
A |
C |
3: 94,523,075 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,937 (GRCm39) |
T80A |
probably damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,291 (GRCm39) |
N406S |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,868,510 (GRCm39) |
W188R |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,807,335 (GRCm39) |
S2738A |
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 |
|
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 |
2015-04-16 |
Incidental Mutation