Incidental Mutation 'R5594:Eogt'
| ID |
437691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
043146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R5594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97092996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 394
(T394S)
|
| 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: T394S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: T394S
| 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 |
0.0799 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
| 4931414P19Rik |
A |
G |
14: 54,822,441 (GRCm39) |
Y399H |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,035,688 (GRCm39) |
P644Q |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,412,946 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,062,880 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
T |
C |
9: 65,409,523 (GRCm39) |
N471S |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,000 (GRCm39) |
T1345A |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,233,614 (GRCm39) |
L820H |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,658,248 (GRCm39) |
V554A |
probably damaging |
Het |
| Birc7 |
G |
A |
2: 180,575,129 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
C |
T |
16: 44,936,626 (GRCm39) |
R684C |
probably benign |
Het |
| Cdc25b |
C |
A |
2: 131,033,538 (GRCm39) |
P159Q |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,841,252 (GRCm39) |
D647E |
probably benign |
Het |
| Chek2 |
G |
T |
5: 111,003,700 (GRCm39) |
|
probably null |
Het |
| Chil6 |
C |
T |
3: 106,301,745 (GRCm39) |
|
probably null |
Het |
| Cr2 |
A |
G |
1: 194,839,498 (GRCm39) |
I643T |
probably damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,418,773 (GRCm39) |
Q187K |
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,491,275 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,058,834 (GRCm39) |
T268A |
possibly damaging |
Het |
| Dnah17 |
G |
T |
11: 117,934,055 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,570,844 (GRCm39) |
Y2210C |
possibly damaging |
Het |
| Elmod3 |
G |
A |
6: 72,571,799 (GRCm39) |
|
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,968,317 (GRCm39) |
V182A |
possibly damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,223 (GRCm39) |
I315T |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,728,629 (GRCm39) |
N76S |
probably damaging |
Het |
| Gcc2 |
G |
T |
10: 58,123,064 (GRCm39) |
R1190M |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,301,546 (GRCm39) |
S450P |
probably damaging |
Het |
| Glg1 |
G |
A |
8: 111,914,513 (GRCm39) |
R424C |
probably damaging |
Het |
| Gm11543 |
T |
A |
11: 94,719,380 (GRCm39) |
|
noncoding transcript |
Het |
| Hhip |
G |
T |
8: 80,723,492 (GRCm39) |
D387E |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,984,566 (GRCm39) |
Y46* |
probably null |
Het |
| Hivep3 |
G |
T |
4: 119,980,245 (GRCm39) |
|
probably null |
Het |
| Kif13a |
T |
A |
13: 46,906,338 (GRCm39) |
E535V |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,734,554 (GRCm39) |
Y15H |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,933,982 (GRCm39) |
V3560E |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,593,755 (GRCm39) |
F613L |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,662,977 (GRCm39) |
V465M |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ms4a6c |
T |
A |
19: 11,455,537 (GRCm39) |
D115E |
probably benign |
Het |
| Msh6 |
A |
G |
17: 88,293,497 (GRCm39) |
T751A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,101,647 (GRCm39) |
T429S |
probably benign |
Het |
| Oplah |
A |
C |
15: 76,180,837 (GRCm39) |
*1289G |
probably null |
Het |
| Or14j7 |
T |
A |
17: 38,234,502 (GRCm39) |
M15K |
probably benign |
Het |
| Or7e166 |
T |
C |
9: 19,624,302 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,581 (GRCm39) |
T434S |
probably benign |
Het |
| Pign |
A |
G |
1: 105,574,594 (GRCm39) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,937,996 (GRCm39) |
I51F |
probably benign |
Het |
| Prrc2c |
C |
A |
1: 162,526,600 (GRCm39) |
V204F |
unknown |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,710 (GRCm39) |
S325P |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,636,444 (GRCm39) |
L116Q |
probably damaging |
Het |
| Rpl22 |
T |
A |
4: 152,410,259 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,560 (GRCm39) |
E1588G |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,110,735 (GRCm39) |
F577S |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,933,258 (GRCm39) |
D105E |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,489,240 (GRCm39) |
D215V |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,693,768 (GRCm39) |
P438T |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Stk19 |
C |
T |
17: 35,039,538 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,725,829 (GRCm39) |
I143T |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,067,339 (GRCm39) |
H2232R |
possibly damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,452 (GRCm39) |
T352A |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,066,579 (GRCm39) |
I358T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,202,863 (GRCm39) |
D392G |
possibly damaging |
Het |
| Vmn1r1 |
G |
A |
1: 181,984,972 (GRCm39) |
P231L |
probably damaging |
Het |
| Zfp330 |
A |
G |
8: 83,493,941 (GRCm39) |
W107R |
probably damaging |
Het |
| Zfp715 |
T |
A |
7: 42,949,116 (GRCm39) |
Q281H |
possibly damaging |
Het |
| Zfp9 |
T |
C |
6: 118,442,000 (GRCm39) |
T221A |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,007,420 (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 |
|
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'- ACTTGAGGCCTCTGTCATCC -3'
(R):5'- TACTGGTAACTTGCATGCGC -3'
Sequencing Primer
(F):5'- ATCCCTGTCTTGTTTAATGACTGAG -3'
(R):5'- CGCATGCATGAGTGTGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation