Incidental Mutation 'IGL00850:Omg'
| ID |
12862 |
| 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 # |
IGL00850
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
79391808-79394908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79393540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 106
(N106S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000164465
AA Change: N106S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132918
Gene: ENSMUSG00000049612
AA Change: N106S
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand1 |
C |
A |
10: 119,047,040 (GRCm39) |
V817L |
probably benign |
Het |
| Cdc16 |
T |
G |
8: 13,817,575 (GRCm39) |
Y295* |
probably null |
Het |
| Cdk12 |
T |
A |
11: 98,113,491 (GRCm39) |
N758K |
unknown |
Het |
| Cep295 |
A |
G |
9: 15,234,148 (GRCm39) |
L2216S |
probably benign |
Het |
| Chpf2 |
A |
G |
5: 24,797,259 (GRCm39) |
E735G |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,683,848 (GRCm39) |
T432A |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,295,246 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
G |
13: 25,051,157 (GRCm39) |
D464E |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,345,705 (GRCm39) |
A7622S |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,859,949 (GRCm39) |
I127N |
probably damaging |
Het |
| Fem1a |
A |
G |
17: 56,565,355 (GRCm39) |
I483V |
possibly damaging |
Het |
| Gcc2 |
C |
A |
10: 58,094,070 (GRCm39) |
D51E |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,088 (GRCm39) |
S178P |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,583,379 (GRCm39) |
Q161R |
probably damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,611,436 (GRCm39) |
|
probably benign |
Het |
| Myh3 |
T |
C |
11: 66,981,681 (GRCm39) |
Y757H |
probably damaging |
Het |
| Myo1h |
A |
C |
5: 114,453,132 (GRCm39) |
|
probably benign |
Het |
| Nudt13 |
T |
A |
14: 20,356,418 (GRCm39) |
S114R |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,809,576 (GRCm39) |
V1163A |
probably damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,918,292 (GRCm39) |
Y350* |
probably null |
Het |
| Prr29 |
C |
A |
11: 106,266,033 (GRCm39) |
T32K |
possibly damaging |
Het |
| Psd4 |
C |
T |
2: 24,284,298 (GRCm39) |
A54V |
probably benign |
Het |
| Scd3 |
A |
G |
19: 44,224,247 (GRCm39) |
H160R |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,098,924 (GRCm39) |
L1387P |
probably damaging |
Het |
| Stk35 |
A |
G |
2: 129,643,912 (GRCm39) |
T299A |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 130,092,814 (GRCm39) |
S1238N |
probably benign |
Het |
| Utp11 |
T |
C |
4: 124,576,250 (GRCm39) |
K131R |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
| Zan |
T |
C |
5: 137,462,375 (GRCm39) |
T935A |
unknown |
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 |
|
|
IGL01863:Omg
|
APN |
11 |
79,393,050 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation