Incidental Mutation 'IGL01863:Omg'
ID |
178423 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Omg
|
Ensembl Gene |
ENSMUSG00000049612 |
Gene Name |
oligodendrocyte myelin glycoprotein |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
79391808-79394908 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79393050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 269
(M269I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071325]
[ENSMUST00000108251]
[ENSMUST00000164465]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071325
|
SMART Domains |
Protein: ENSMUSP00000071289 Gene: ENSMUSG00000020716
Domain | Start | End | E-Value | Type |
RasGAP
|
1189 |
1559 |
2.56e-151 |
SMART |
SEC14
|
1585 |
1737 |
2.36e-11 |
SMART |
low complexity region
|
2619 |
2629 |
N/A |
INTRINSIC |
low complexity region
|
2750 |
2763 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108251
|
SMART Domains |
Protein: ENSMUSP00000103886 Gene: ENSMUSG00000020716
Domain | Start | End | E-Value | Type |
RasGAP
|
1189 |
1538 |
1.23e-153 |
SMART |
SEC14
|
1564 |
1716 |
2.36e-11 |
SMART |
low complexity region
|
2598 |
2608 |
N/A |
INTRINSIC |
low complexity region
|
2729 |
2742 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164465
AA Change: M269I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132918 Gene: ENSMUSG00000049612 AA Change: M269I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
LRRNT
|
28 |
62 |
5.02e-10 |
SMART |
LRR
|
80 |
103 |
1.07e0 |
SMART |
LRR_TYP
|
148 |
171 |
1.18e-2 |
SMART |
LRR
|
172 |
192 |
2.33e2 |
SMART |
LRR_TYP
|
193 |
216 |
4.01e-5 |
SMART |
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit improved recovery from spinal cord injuries when on a mixed 129S4/SvJae C57BL/6 background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
Het |
|
Other mutations in Omg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00742:Omg
|
APN |
11 |
79,394,739 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL00850:Omg
|
APN |
11 |
79,393,540 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03034:Omg
|
APN |
11 |
79,392,947 (GRCm39) |
missense |
possibly damaging |
0.53 |
E0374:Omg
|
UTSW |
11 |
79,393,775 (GRCm39) |
missense |
probably benign |
0.16 |
R0125:Omg
|
UTSW |
11 |
79,393,679 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0413:Omg
|
UTSW |
11 |
79,393,661 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1636:Omg
|
UTSW |
11 |
79,393,166 (GRCm39) |
missense |
probably benign |
0.21 |
R1659:Omg
|
UTSW |
11 |
79,393,726 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1713:Omg
|
UTSW |
11 |
79,393,679 (GRCm39) |
missense |
probably benign |
0.03 |
R1882:Omg
|
UTSW |
11 |
79,392,545 (GRCm39) |
intron |
probably benign |
|
R3974:Omg
|
UTSW |
11 |
79,393,224 (GRCm39) |
missense |
probably benign |
|
R4668:Omg
|
UTSW |
11 |
79,393,249 (GRCm39) |
missense |
probably damaging |
0.98 |
R5560:Omg
|
UTSW |
11 |
79,392,584 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6230:Omg
|
UTSW |
11 |
79,393,784 (GRCm39) |
missense |
probably benign |
0.03 |
R6803:Omg
|
UTSW |
11 |
79,393,094 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6983:Omg
|
UTSW |
11 |
79,392,764 (GRCm39) |
missense |
probably benign |
0.00 |
R7557:Omg
|
UTSW |
11 |
79,393,679 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7719:Omg
|
UTSW |
11 |
79,393,059 (GRCm39) |
missense |
probably benign |
0.33 |
R8014:Omg
|
UTSW |
11 |
79,393,729 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8389:Omg
|
UTSW |
11 |
79,393,001 (GRCm39) |
missense |
probably benign |
0.01 |
R8425:Omg
|
UTSW |
11 |
79,392,826 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8891:Omg
|
UTSW |
11 |
79,393,829 (GRCm39) |
nonsense |
probably null |
|
R9203:Omg
|
UTSW |
11 |
79,393,051 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Omg
|
UTSW |
11 |
79,393,146 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Posted On |
2014-05-07 |