Incidental Mutation 'P4717OSA:Olig1'
ID |
44010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olig1
|
Ensembl Gene |
ENSMUSG00000046160 |
Gene Name |
oligodendrocyte transcription factor 1 |
Synonyms |
bHLHe21, Olg-1, Bhlhb6 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.371)
|
Stock # |
P4717OSA (G1)
of strain
634
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
16 |
Chromosomal Location |
91066660-91068821 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91066877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 38
(Y38F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056882]
|
AlphaFold |
Q9JKN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056882
AA Change: Y38F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000061408 Gene: ENSMUSG00000046160 AA Change: Y38F
Domain | Start | End | E-Value | Type |
low complexity region
|
88 |
94 |
N/A |
INTRINSIC |
HLH
|
100 |
159 |
2.75e-12 |
SMART |
low complexity region
|
160 |
196 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232074
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232580
|
Meta Mutation Damage Score |
0.1287 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
100% (27/27) |
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in impaired maturation of oligodendrocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
Acsm5 |
A |
T |
7: 119,131,195 (GRCm39) |
E204D |
probably benign |
Het |
Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
Bbof1 |
G |
A |
12: 84,473,734 (GRCm39) |
A355T |
probably damaging |
Het |
Capn10 |
G |
T |
1: 92,867,116 (GRCm39) |
Q115H |
probably damaging |
Het |
Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
Gbp2 |
T |
C |
3: 142,336,357 (GRCm39) |
F236L |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,677,317 (GRCm39) |
I527T |
probably damaging |
Het |
Hhla1 |
A |
G |
15: 65,795,850 (GRCm39) |
L452P |
probably damaging |
Het |
Mcoln3 |
T |
G |
3: 145,830,504 (GRCm39) |
V78G |
probably damaging |
Het |
Mylk |
T |
A |
16: 34,797,483 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
A |
9: 48,237,677 (GRCm39) |
M193L |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,386,895 (GRCm39) |
V1256A |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,391,643 (GRCm39) |
I1570F |
probably damaging |
Het |
Prss12 |
T |
C |
3: 123,241,267 (GRCm39) |
Y154H |
probably damaging |
Het |
Rbp3 |
A |
G |
14: 33,677,456 (GRCm39) |
D468G |
probably damaging |
Het |
Relt |
G |
A |
7: 100,496,788 (GRCm39) |
R360C |
probably damaging |
Het |
Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
Trhr |
C |
A |
15: 44,060,831 (GRCm39) |
T117K |
probably damaging |
Het |
Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
|
Other mutations in Olig1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02390:Olig1
|
APN |
16 |
91,067,041 (GRCm39) |
missense |
probably damaging |
0.98 |
R0368:Olig1
|
UTSW |
16 |
91,067,540 (GRCm39) |
missense |
probably damaging |
0.99 |
R8826:Olig1
|
UTSW |
16 |
91,067,027 (GRCm39) |
missense |
probably benign |
0.43 |
R8871:Olig1
|
UTSW |
16 |
91,067,545 (GRCm39) |
makesense |
probably null |
|
R9216:Olig1
|
UTSW |
16 |
91,066,915 (GRCm39) |
missense |
probably benign |
|
Z1177:Olig1
|
UTSW |
16 |
91,067,359 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1177:Olig1
|
UTSW |
16 |
91,067,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGCCGGGTTTAAAGGTGTCAG -3'
(R):5'- AGTAGGGTAGGATAACTTCGCGCAG -3'
Sequencing Primer
(F):5'- GAGGGCGATCTGCCGAC -3'
(R):5'- GCCAAGTTCAGGTCCTGC -3'
|
Posted On |
2013-05-31 |