Incidental Mutation 'R7851:Eogt'
| ID |
606931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
045904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R7851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97097162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 313
(E313D)
|
| 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: E313D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: E313D
| 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 |
|
| Meta Mutation Damage Score |
0.0786 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,300,838 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
A |
T |
11: 94,250,486 (GRCm39) |
L905* |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,687 (GRCm39) |
D401A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,799,444 (GRCm39) |
K918E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,468,034 (GRCm39) |
N1722S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,498,409 (GRCm39) |
I481V |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,650,279 (GRCm39) |
I756T |
possibly damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,062 (GRCm39) |
F49S |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
A |
G |
17: 43,135,363 (GRCm39) |
|
probably null |
Het |
| Cnn3 |
T |
A |
3: 121,250,992 (GRCm39) |
Y304N |
possibly damaging |
Het |
| Cnot2 |
G |
A |
10: 116,373,337 (GRCm39) |
S22L |
possibly damaging |
Het |
| Coq6 |
A |
T |
12: 84,418,929 (GRCm39) |
H311L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,137 (GRCm39) |
N350S |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,600 (GRCm39) |
N253K |
probably benign |
Het |
| Dok7 |
T |
A |
5: 35,214,280 (GRCm39) |
M1K |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,748,951 (GRCm39) |
S430P |
probably damaging |
Het |
| Gfod2 |
T |
A |
8: 106,454,762 (GRCm39) |
E39D |
probably benign |
Het |
| Gfral |
T |
C |
9: 76,112,737 (GRCm39) |
N65D |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,595 (GRCm39) |
L62* |
probably null |
Het |
| Gyg1 |
T |
G |
3: 20,176,911 (GRCm39) |
M360L |
probably benign |
Het |
| Hsp90ab1 |
A |
T |
17: 45,881,378 (GRCm39) |
S255T |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,734,497 (GRCm39) |
D143E |
probably benign |
Het |
| Ipp |
C |
T |
4: 116,372,672 (GRCm39) |
Q234* |
probably null |
Het |
| Ism1 |
A |
T |
2: 139,599,185 (GRCm39) |
D386V |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,354 (GRCm39) |
T436A |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,003,494 (GRCm39) |
I125S |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,190,508 (GRCm39) |
E1003V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,043,076 (GRCm39) |
I6785F |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,436,655 (GRCm39) |
T10I |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,827 (GRCm39) |
T284A |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,918,915 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,428 (GRCm39) |
Y123* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,789 (GRCm39) |
V333A |
probably benign |
Het |
| Or6c5c |
G |
T |
10: 129,299,429 (GRCm39) |
V295L |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,416,945 (GRCm39) |
T86S |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,264,236 (GRCm39) |
M168K |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,227,613 (GRCm39) |
L259P |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,855 (GRCm39) |
S1350G |
probably damaging |
Het |
| Prickle1 |
G |
A |
15: 93,398,440 (GRCm39) |
T796I |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,879,843 (GRCm39) |
I138M |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,732,482 (GRCm39) |
E958G |
probably benign |
Het |
| Rcn3 |
A |
T |
7: 44,736,236 (GRCm39) |
D157E |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,412,540 (GRCm39) |
S534P |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,862 (GRCm39) |
T3371A |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,446,828 (GRCm39) |
V1399D |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,489,147 (GRCm39) |
T185A |
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,894,954 (GRCm39) |
V607M |
probably damaging |
Het |
| Smurf2 |
T |
C |
11: 106,721,752 (GRCm39) |
Y581C |
probably damaging |
Het |
| Snx8 |
C |
A |
5: 140,343,914 (GRCm39) |
V101L |
probably damaging |
Het |
| Sp100 |
A |
T |
1: 85,634,647 (GRCm39) |
K180M |
probably benign |
Het |
| Spire2 |
T |
A |
8: 124,083,438 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
A |
G |
11: 116,576,764 (GRCm39) |
S86P |
probably benign |
Het |
| Sybu |
G |
A |
15: 44,609,852 (GRCm39) |
Q139* |
probably null |
Het |
| Tas2r114 |
T |
A |
6: 131,666,888 (GRCm39) |
I47F |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,747 (GRCm39) |
D19G |
probably benign |
Het |
| Terb2 |
T |
C |
2: 122,016,794 (GRCm39) |
F9L |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,307 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,255 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,014 (GRCm39) |
F1001S |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,539 (GRCm39) |
T99I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,853,398 (GRCm39) |
T33S |
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 |
|
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 |
|
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'- TGATGTTCAGCCTATGCAGC -3'
(R):5'- TGTGGTGTCTACCCTATGAAGG -3'
Sequencing Primer
(F):5'- GATGTTCAGCCTATGCAGCACATG -3'
(R):5'- CCTATGAAGGGTGCATACCTTGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation