Incidental Mutation 'R8475:Eogt'
| ID |
657224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
067919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R8475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 97122327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 35
(Y35*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054344]
[ENSMUST00000113387]
[ENSMUST00000136575]
[ENSMUST00000142116]
[ENSMUST00000142553]
[ENSMUST00000204331]
|
| AlphaFold |
Q8BYW9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054344
AA Change: Y35*
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: Y35*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:DUF563
|
245 |
472 |
1.3e-31 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113387
|
| SMART Domains |
Protein: ENSMUSP00000109014
Gene: ENSMUSG00000035245
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136575
AA Change: Y35*
|
| SMART Domains |
Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245
AA Change: Y35*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142116
AA Change: Y35*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142553
AA Change: Y35*
|
| SMART Domains |
Protein: ENSMUSP00000115101
Gene: ENSMUSG00000035245
AA Change: Y35*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204331
AA Change: Y35*
|
| SMART Domains |
Protein: ENSMUSP00000145303
Gene: ENSMUSG00000035245
AA Change: Y35*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9707 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Adamts14 |
T |
C |
10: 61,038,666 (GRCm39) |
E945G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,871,976 (GRCm39) |
V958A |
probably benign |
Het |
| Adh6a |
T |
C |
3: 138,030,979 (GRCm39) |
I156T |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,624,863 (GRCm39) |
V201A |
possibly damaging |
Het |
| Als2cl |
C |
G |
9: 110,715,484 (GRCm39) |
A182G |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,241,819 (GRCm39) |
L295Q |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,448,664 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
G |
A |
2: 104,552,314 (GRCm39) |
R498C |
probably benign |
Het |
| Epb41l1 |
T |
G |
2: 156,364,150 (GRCm39) |
S886R |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,293,456 (GRCm39) |
D407E |
probably damaging |
Het |
| Gngt1 |
C |
A |
6: 3,994,262 (GRCm39) |
D13E |
probably benign |
Het |
| Grxcr1 |
T |
C |
5: 68,323,484 (GRCm39) |
L254P |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,327 (GRCm39) |
D290G |
probably damaging |
Het |
| Klf16 |
A |
G |
10: 80,412,719 (GRCm39) |
S106P |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,204 (GRCm39) |
D264G |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,977,369 (GRCm39) |
V1937M |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,862 (GRCm39) |
K118N |
probably benign |
Het |
| Manba |
G |
A |
3: 135,217,573 (GRCm39) |
V130I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,164 (GRCm39) |
S527G |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,271,281 (GRCm39) |
V656L |
probably damaging |
Het |
| Mrpl10 |
A |
T |
11: 96,938,261 (GRCm39) |
N137I |
probably benign |
Het |
| Mtfmt |
C |
A |
9: 65,359,469 (GRCm39) |
N381K |
probably benign |
Het |
| Myo18b |
A |
T |
5: 113,021,422 (GRCm39) |
Y546* |
probably null |
Het |
| Nectin4 |
C |
T |
1: 171,212,280 (GRCm39) |
R293* |
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,799,776 (GRCm39) |
S136P |
possibly damaging |
Het |
| Or14c39 |
A |
C |
7: 86,344,361 (GRCm39) |
R232S |
probably benign |
Het |
| Or1q1 |
G |
A |
2: 36,887,066 (GRCm39) |
M81I |
probably damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,586 (GRCm39) |
M37V |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,214,066 (GRCm39) |
M213V |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,536 (GRCm39) |
L27P |
probably damaging |
Het |
| Oxnad1 |
A |
G |
14: 31,823,250 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
G |
16: 13,425,113 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
T |
C |
18: 37,154,136 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pfkfb2 |
G |
C |
1: 130,624,816 (GRCm39) |
Q515E |
probably benign |
Het |
| Pjvk |
T |
C |
2: 76,480,901 (GRCm39) |
F40L |
probably benign |
Het |
| Pygo2 |
A |
G |
3: 89,340,697 (GRCm39) |
Y328C |
probably damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,681,965 (GRCm39) |
K215Q |
probably damaging |
Het |
| Sephs1 |
T |
A |
2: 4,893,821 (GRCm39) |
|
probably null |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,566,107 (GRCm39) |
Y123H |
probably damaging |
Het |
| Tbx21 |
A |
T |
11: 96,990,808 (GRCm39) |
V290D |
possibly damaging |
Het |
| Tep1 |
C |
A |
14: 51,078,712 (GRCm39) |
G1514W |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,073 (GRCm39) |
M98T |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,150,455 (GRCm39) |
N474S |
probably benign |
Het |
| Zpbp |
T |
C |
11: 11,365,203 (GRCm39) |
K215E |
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 |
|
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 |
|
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'- ATGCCATCATTGTCTCTGTGTG -3'
(R):5'- TTCAAACTCTATGTCCTAAAGGGAG -3'
Sequencing Primer
(F):5'- GCCATCATTGTCTCTGTGTGCTAAC -3'
(R):5'- CTGGAACTCATTCTGTAGACCAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation