Incidental Mutation 'IGL03034:Omg'
| ID |
408589 |
| 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 # |
IGL03034
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
79391808-79394908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79392947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 304
(T304S)
|
| 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: T304S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132918
Gene: ENSMUSG00000049612
AA Change: T304S
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
C |
T |
11: 81,780,908 (GRCm39) |
|
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,985,509 (GRCm39) |
T269A |
probably benign |
Het |
| Asgr2 |
G |
T |
11: 69,989,089 (GRCm39) |
G178W |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,946,320 (GRCm39) |
|
probably benign |
Het |
| Cnmd |
C |
T |
14: 79,879,368 (GRCm39) |
A257T |
probably benign |
Het |
| Cox7a1 |
A |
G |
7: 29,884,693 (GRCm39) |
|
probably benign |
Het |
| Cpox |
C |
T |
16: 58,495,718 (GRCm39) |
T345M |
probably damaging |
Het |
| Crisp1 |
T |
C |
17: 40,618,619 (GRCm39) |
T81A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,708,214 (GRCm39) |
R501* |
probably null |
Het |
| Dlx6 |
A |
C |
6: 6,863,807 (GRCm39) |
Q143P |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,269,348 (GRCm39) |
Y687F |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,709,894 (GRCm39) |
V228A |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
| Fbxo6 |
G |
A |
4: 148,230,579 (GRCm39) |
Q228* |
probably null |
Het |
| Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
| Kctd9 |
T |
A |
14: 67,971,728 (GRCm39) |
S268T |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,715,846 (GRCm39) |
V749M |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,938,809 (GRCm39) |
D94G |
probably damaging |
Het |
| Mllt10 |
T |
G |
2: 18,069,847 (GRCm39) |
M1R |
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,651,193 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,161,321 (GRCm39) |
I549N |
possibly damaging |
Het |
| Myocd |
T |
C |
11: 65,109,511 (GRCm39) |
T87A |
probably benign |
Het |
| Nr3c2 |
T |
G |
8: 77,914,267 (GRCm39) |
Y824* |
probably null |
Het |
| Or4b1 |
A |
G |
2: 89,980,177 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or52p2 |
G |
A |
7: 102,237,147 (GRCm39) |
H268Y |
probably benign |
Het |
| Or5an1b |
T |
C |
19: 12,300,018 (GRCm39) |
T58A |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,879,121 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,527 (GRCm39) |
I144F |
probably benign |
Het |
| Pde3a |
G |
A |
6: 141,438,126 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,469,252 (GRCm39) |
K129E |
probably damaging |
Het |
| Phka2 |
G |
T |
X: 159,360,546 (GRCm39) |
E858* |
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,815,081 (GRCm39) |
T548A |
possibly damaging |
Het |
| Prr14l |
G |
A |
5: 32,984,782 (GRCm39) |
A1571V |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 117,080,879 (GRCm39) |
|
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,103 (GRCm39) |
E107G |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,885,392 (GRCm39) |
D620G |
probably benign |
Het |
| Traf3ip2 |
A |
T |
10: 39,502,215 (GRCm39) |
K121I |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,945,640 (GRCm39) |
S734P |
probably damaging |
Het |
| Zfp953 |
C |
T |
13: 67,491,526 (GRCm39) |
C142Y |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,521,142 (GRCm39) |
C204S |
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 |
|
IGL01863:Omg
|
APN |
11 |
79,393,050 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation