Incidental Mutation 'R7185:Eogt'
| ID |
559236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
045237-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R7185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97097139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 321
(R321H)
|
| 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: R321H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: R321H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
A |
11: 117,725,599 (GRCm39) |
D95E |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,708,535 (GRCm39) |
E330G |
probably damaging |
Het |
| B3gat2 |
A |
C |
1: 23,802,272 (GRCm39) |
D186A |
probably damaging |
Het |
| Baz1a |
G |
A |
12: 55,022,093 (GRCm39) |
T63M |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,779 (GRCm39) |
M219K |
probably benign |
Het |
| Cd200r1 |
A |
G |
16: 44,609,975 (GRCm39) |
T65A |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,087,676 (GRCm39) |
E494G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,686 (GRCm39) |
L2198P |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,449,739 (GRCm39) |
D117E |
probably damaging |
Het |
| Ddr2 |
C |
A |
1: 169,814,623 (GRCm39) |
V607L |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,729,687 (GRCm39) |
Y763C |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,849,857 (GRCm39) |
T93S |
probably benign |
Het |
| Fam174c |
G |
A |
10: 80,008,963 (GRCm39) |
G55E |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,784,635 (GRCm39) |
S873P |
probably damaging |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm8247 |
A |
G |
14: 44,823,859 (GRCm39) |
I182V |
|
Het |
| Gpatch2 |
T |
C |
1: 186,958,394 (GRCm39) |
S250P |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,244,859 (GRCm39) |
D183G |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,665,138 (GRCm39) |
V433A |
probably damaging |
Het |
| Igkv8-30 |
C |
A |
6: 70,094,590 (GRCm39) |
Q4H |
probably benign |
Het |
| Igkv8-30 |
T |
G |
6: 70,094,591 (GRCm39) |
Q4P |
probably damaging |
Het |
| Kcnj5 |
T |
G |
9: 32,233,472 (GRCm39) |
N281T |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,624,855 (GRCm39) |
E350G |
possibly damaging |
Het |
| Layn |
T |
C |
9: 50,985,173 (GRCm39) |
T128A |
possibly damaging |
Het |
| Liph |
T |
C |
16: 21,814,089 (GRCm39) |
M11V |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,691,524 (GRCm39) |
|
probably null |
Het |
| Mcrip1 |
A |
C |
11: 120,435,505 (GRCm39) |
|
probably null |
Het |
| Myh1 |
G |
A |
11: 67,098,285 (GRCm39) |
E486K |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,398,746 (GRCm39) |
K612R |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,846,621 (GRCm38) |
K245E |
probably benign |
Het |
| Nipal1 |
T |
A |
5: 72,824,198 (GRCm39) |
S181T |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,862,053 (GRCm39) |
L192R |
probably damaging |
Het |
| Nol7 |
G |
A |
13: 43,560,307 (GRCm39) |
|
probably null |
Het |
| Oas1b |
G |
A |
5: 120,955,837 (GRCm39) |
R205H |
not run |
Het |
| Or13j1 |
A |
G |
4: 43,706,082 (GRCm39) |
I162T |
possibly damaging |
Het |
| Or4f56 |
T |
G |
2: 111,704,167 (GRCm39) |
E11A |
possibly damaging |
Het |
| Or5w15 |
A |
G |
2: 87,568,489 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,701 (GRCm39) |
S470P |
probably benign |
Het |
| Pdzk1ip1 |
A |
T |
4: 114,946,305 (GRCm39) |
H55L |
possibly damaging |
Het |
| Pibf1 |
T |
A |
14: 99,344,752 (GRCm39) |
M124K |
possibly damaging |
Het |
| Prr36 |
C |
T |
8: 4,266,458 (GRCm39) |
G31R |
probably damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,814,079 (GRCm39) |
A660D |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,718 (GRCm39) |
V166A |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,308,607 (GRCm39) |
Y164F |
probably damaging |
Het |
| Rest |
C |
A |
5: 77,430,331 (GRCm39) |
H917N |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,425,073 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,315,024 (GRCm39) |
C955R |
|
Het |
| Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
| Sec11c |
T |
A |
18: 65,947,963 (GRCm39) |
D134E |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spo11 |
T |
A |
2: 172,823,985 (GRCm39) |
|
probably null |
Het |
| Srd5a3 |
T |
C |
5: 76,301,419 (GRCm39) |
I216T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,864 (GRCm39) |
N296S |
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,984,643 (GRCm39) |
D259G |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,657,873 (GRCm39) |
S300N |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,087,396 (GRCm39) |
T15S |
probably benign |
Het |
| Uts2r |
T |
C |
11: 121,051,706 (GRCm39) |
V190A |
probably benign |
Het |
| Vmn2r77 |
A |
C |
7: 86,451,035 (GRCm39) |
D307A |
probably benign |
Het |
| Xpa |
G |
T |
4: 46,183,078 (GRCm39) |
T237K |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,946,502 (GRCm39) |
C108S |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,735,164 (GRCm39) |
|
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,808,974 (GRCm39) |
D962E |
probably damaging |
Het |
| Zfp60 |
A |
G |
7: 27,437,830 (GRCm39) |
T46A |
probably damaging |
Het |
| Zfy1 |
G |
A |
Y: 725,464 (GRCm39) |
S767L |
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 |
|
|
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 |
|
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'- GATGTTCAGCCTATGCAGCAC -3'
(R):5'- GCTGTGGTGTCTACCCTATG -3'
Sequencing Primer
(F):5'- CACATGCTGGGAGAAGGCTC -3'
(R):5'- CCTATGAAGGGTGCATACCTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation