Incidental Mutation 'R6950:Eogt'
| ID |
541209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eogt
|
| Ensembl Gene |
ENSMUSG00000035245 |
| Gene Name |
EGF domain specific O-linked N-acetylglucosamine transferase |
| Synonyms |
A130022J15Rik |
| MMRRC Submission |
045062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R6950 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97086985-97126143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97111343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 173
(F173L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054344]
[ENSMUST00000113387]
[ENSMUST00000136575]
|
| AlphaFold |
Q8BYW9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054344
AA Change: F173L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: F173L
| 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 |
probably benign
Transcript: ENSMUST00000136575
|
| SMART Domains |
Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3539 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,229,480 (GRCm39) |
V404D |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,036,184 (GRCm39) |
M159T |
possibly damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,598,080 (GRCm39) |
K674R |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,095,511 (GRCm38) |
P403H |
probably damaging |
Het |
| Cav3 |
C |
T |
6: 112,449,171 (GRCm39) |
T63I |
probably damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,898 (GRCm39) |
*368Q |
probably null |
Het |
| Cdh8 |
A |
T |
8: 99,757,395 (GRCm39) |
N734K |
probably benign |
Het |
| Ces5a |
G |
T |
8: 94,257,402 (GRCm39) |
N134K |
probably benign |
Het |
| Cisd3 |
T |
G |
11: 97,576,986 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
G |
17: 32,711,280 (GRCm39) |
C476G |
probably damaging |
Het |
| Dffb |
A |
T |
4: 154,054,549 (GRCm39) |
M180K |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,783,313 (GRCm39) |
E749G |
possibly damaging |
Het |
| Ephb1 |
T |
A |
9: 102,072,108 (GRCm39) |
T224S |
probably benign |
Het |
| Fam114a1 |
A |
T |
5: 65,137,322 (GRCm39) |
E88D |
possibly damaging |
Het |
| Fbn2 |
A |
C |
18: 58,168,993 (GRCm39) |
M2262R |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,816,332 (GRCm39) |
I4022V |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,574,257 (GRCm39) |
V1301A |
probably benign |
Het |
| Gch1 |
A |
T |
14: 47,426,723 (GRCm39) |
M1K |
probably null |
Het |
| Hes1 |
T |
C |
16: 29,886,089 (GRCm39) |
F231S |
probably damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,727 (GRCm39) |
T31A |
probably benign |
Het |
| Ifngr1 |
T |
A |
10: 19,483,041 (GRCm39) |
V265D |
probably damaging |
Het |
| Ifnl3 |
A |
T |
7: 28,222,432 (GRCm39) |
I58F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,937,605 (GRCm39) |
T561A |
probably benign |
Het |
| Igfbpl1 |
T |
A |
4: 45,815,494 (GRCm39) |
H214L |
probably damaging |
Het |
| Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,737,901 (GRCm39) |
|
probably benign |
Het |
| Lratd2 |
T |
C |
15: 60,695,563 (GRCm39) |
D61G |
probably benign |
Het |
| Lrrc36 |
G |
T |
8: 106,152,021 (GRCm39) |
|
probably null |
Het |
| Msl2 |
C |
T |
9: 100,979,174 (GRCm39) |
P516L |
possibly damaging |
Het |
| Naaladl1 |
A |
T |
19: 6,156,011 (GRCm39) |
I62F |
probably damaging |
Het |
| Neto2 |
G |
T |
8: 86,397,072 (GRCm39) |
P60Q |
probably damaging |
Het |
| Nipsnap3b |
A |
T |
4: 53,015,136 (GRCm39) |
H61L |
possibly damaging |
Het |
| Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
| Nutm1 |
T |
A |
2: 112,078,904 (GRCm39) |
T1004S |
probably benign |
Het |
| Or4a78 |
T |
A |
2: 89,497,895 (GRCm39) |
I112F |
probably benign |
Het |
| Or4z4 |
A |
G |
19: 12,076,754 (GRCm39) |
V83A |
probably benign |
Het |
| Or8c17 |
A |
T |
9: 38,179,842 (GRCm39) |
N3I |
probably damaging |
Het |
| Oxr1 |
C |
A |
15: 41,683,951 (GRCm39) |
A439E |
probably benign |
Het |
| Phf14 |
A |
T |
6: 12,006,854 (GRCm39) |
K835N |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,633,850 (GRCm39) |
V3518E |
probably damaging |
Het |
| Ptpru |
T |
A |
4: 131,503,663 (GRCm39) |
E1132D |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,567,206 (GRCm39) |
M1129K |
probably benign |
Het |
| Rgmb |
T |
C |
17: 16,028,048 (GRCm39) |
K224E |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,517,170 (GRCm39) |
I3318V |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,642,045 (GRCm39) |
Y338C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,576 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,693,514 (GRCm39) |
Y1789* |
probably null |
Het |
| Tgm7 |
T |
C |
2: 120,924,128 (GRCm39) |
E598G |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,657,092 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
A |
G |
5: 108,790,948 (GRCm39) |
N166S |
probably benign |
Het |
| Trp73 |
G |
T |
4: 154,146,510 (GRCm39) |
N368K |
probably benign |
Het |
| Trpc3 |
C |
T |
3: 36,692,739 (GRCm39) |
R751H |
probably damaging |
Het |
| Trpm4 |
C |
A |
7: 44,968,704 (GRCm39) |
A410S |
probably damaging |
Het |
| Ube2t |
T |
G |
1: 134,899,095 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
C |
T |
17: 23,529,137 (GRCm39) |
A322T |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,558,455 (GRCm39) |
R567H |
probably benign |
Het |
| Zfp119b |
T |
C |
17: 56,246,137 (GRCm39) |
K318E |
probably damaging |
Het |
| Zfp626 |
T |
G |
7: 27,518,339 (GRCm39) |
L440R |
probably damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,939 (GRCm39) |
S90P |
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 |
|
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'- CTGCACACATCAGGAAACTTT -3'
(R):5'- CTGTTGTAGGGCGCCTGTC -3'
Sequencing Primer
(F):5'- CAATTCCTAGCAACTACGTGGTGG -3'
(R):5'- ATTACCCTGGGTTACATGAGACC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation