Incidental Mutation 'R8389:Omg'
| ID |
647292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Omg
|
| Ensembl Gene |
ENSMUSG00000049612 |
| Gene Name |
oligodendrocyte myelin glycoprotein |
| Synonyms |
|
| MMRRC Submission |
067754-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8389 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
79391808-79394908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79393001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 286
(M286L)
|
| 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: M286L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000132918
Gene: ENSMUSG00000049612
AA Change: M286L
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
C |
T |
1: 66,893,906 (GRCm39) |
G83E |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 26,993,136 (GRCm39) |
D722G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,756,322 (GRCm39) |
D25E |
|
Het |
| Akr1c21 |
C |
T |
13: 4,626,278 (GRCm39) |
R101W |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,957,132 (GRCm39) |
Y634H |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,851,301 (GRCm39) |
E820G |
probably damaging |
Het |
| Chad |
A |
G |
11: 94,458,718 (GRCm39) |
D289G |
probably benign |
Het |
| Col4a2 |
C |
A |
8: 11,498,132 (GRCm39) |
A1647E |
probably damaging |
Het |
| Dhx32 |
G |
T |
7: 133,326,935 (GRCm39) |
T522K |
possibly damaging |
Het |
| Eloa |
A |
G |
4: 135,733,622 (GRCm39) |
V707A |
probably benign |
Het |
| Fam219a |
A |
G |
4: 41,520,935 (GRCm39) |
S109P |
probably damaging |
Het |
| Ftl1 |
A |
T |
7: 45,108,651 (GRCm39) |
F36I |
probably benign |
Het |
| Furin |
C |
T |
7: 80,040,627 (GRCm39) |
R737Q |
probably benign |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gpt |
C |
T |
15: 76,583,242 (GRCm39) |
T393M |
probably damaging |
Het |
| Greb1l |
A |
T |
18: 10,529,613 (GRCm39) |
D865V |
probably benign |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
| Lcn11 |
A |
T |
2: 25,669,043 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,080,742 (GRCm39) |
V161D |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,584,194 (GRCm39) |
L318S |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,516 (GRCm39) |
T2821A |
possibly damaging |
Het |
| Mysm1 |
A |
G |
4: 94,853,849 (GRCm39) |
M250T |
probably benign |
Het |
| Nol12 |
A |
G |
15: 78,819,268 (GRCm39) |
K27E |
probably damaging |
Het |
| Or4c100 |
G |
A |
2: 88,355,931 (GRCm39) |
M1I |
probably null |
Het |
| Or8g32 |
A |
G |
9: 39,305,912 (GRCm39) |
K272R |
probably damaging |
Het |
| Pdyn |
A |
G |
2: 129,530,357 (GRCm39) |
L104P |
probably benign |
Het |
| Pira2 |
A |
C |
7: 3,846,888 (GRCm39) |
L218R |
probably damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,080,758 (GRCm39) |
M1L |
unknown |
Het |
| Pofut2 |
C |
T |
10: 77,101,785 (GRCm39) |
T274M |
probably benign |
Het |
| Pramel34 |
A |
T |
5: 93,785,587 (GRCm39) |
F231Y |
probably benign |
Het |
| Rbm12b1 |
C |
A |
4: 12,146,363 (GRCm39) |
D778E |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Tbc1d14 |
G |
A |
5: 36,687,792 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
A |
G |
5: 31,127,464 (GRCm39) |
K89E |
probably benign |
Het |
| Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,639,853 (GRCm39) |
V119A |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,401,168 (GRCm39) |
Y84N |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,327 (GRCm39) |
C354S |
probably damaging |
Het |
| Zfp69 |
G |
A |
4: 120,806,549 (GRCm39) |
T28I |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp959 |
T |
C |
17: 56,204,299 (GRCm39) |
V112A |
probably benign |
Het |
| Zfr2 |
T |
A |
10: 81,081,323 (GRCm39) |
W458R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATAGTTAGAGTTGCAGCTGCTG -3'
(R):5'- CATAATAACAGGTGGTCATGTGAC -3'
Sequencing Primer
(F):5'- CTGCTTCATGGGAATTGGTCATTTC -3'
(R):5'- AAGCCCATGTGATAGGGA -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation