Incidental Mutation 'R3438:Oas1e'
ID |
267275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oas1e
|
Ensembl Gene |
ENSMUSG00000066867 |
Gene Name |
2'-5' oligoadenylate synthetase 1E |
Synonyms |
2'-5' oligoadenylate synthetase-like 7 |
MMRRC Submission |
040656-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R3438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120924377-120933595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120933475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 30
(E30G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100785]
[ENSMUST00000117193]
[ENSMUST00000200786]
[ENSMUST00000201172]
|
AlphaFold |
A0A0J9YV76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100785
AA Change: E30G
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000098348 Gene: ENSMUSG00000066867 AA Change: E30G
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
168 |
353 |
4.3e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117193
|
SMART Domains |
Protein: ENSMUSP00000112584 Gene: ENSMUSG00000001166
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
168 |
354 |
1.4e-76 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200786
AA Change: E30G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144442 Gene: ENSMUSG00000066867 AA Change: E30G
Domain | Start | End | E-Value | Type |
PDB:1PX5|B
|
4 |
60 |
4e-14 |
PDB |
low complexity region
|
82 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201006
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201172
AA Change: E30G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144529 Gene: ENSMUSG00000066867 AA Change: E30G
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
168 |
353 |
2.7e-71 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,575,673 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Ampd3 |
T |
C |
7: 110,402,433 (GRCm39) |
I479T |
probably damaging |
Het |
Aoah |
G |
A |
13: 21,101,242 (GRCm39) |
R254K |
probably benign |
Het |
Appbp2 |
T |
C |
11: 85,088,966 (GRCm39) |
E358G |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,752,991 (GRCm39) |
S2294P |
possibly damaging |
Het |
Cux1 |
T |
C |
5: 136,340,414 (GRCm39) |
E632G |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,272,769 (GRCm39) |
N148S |
probably damaging |
Het |
Dgkz |
A |
T |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
Dlgap1 |
A |
T |
17: 70,823,356 (GRCm39) |
S114C |
probably damaging |
Het |
Dmtn |
T |
A |
14: 70,850,156 (GRCm39) |
I263F |
probably damaging |
Het |
Gigyf2 |
C |
A |
1: 87,368,302 (GRCm39) |
H1029N |
probably damaging |
Het |
Gm10770 |
T |
A |
2: 150,021,469 (GRCm39) |
|
probably null |
Het |
Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,102,161 (GRCm39) |
D1479G |
probably benign |
Het |
Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
Lhx4 |
T |
A |
1: 155,578,230 (GRCm39) |
D304V |
probably benign |
Het |
Mybl1 |
G |
T |
1: 9,757,870 (GRCm39) |
T143K |
probably damaging |
Het |
Notch3 |
C |
T |
17: 32,372,564 (GRCm39) |
C630Y |
probably damaging |
Het |
Or4c114 |
T |
C |
2: 88,904,707 (GRCm39) |
I243V |
probably benign |
Het |
Or8b55 |
T |
G |
9: 38,727,512 (GRCm39) |
F238V |
probably damaging |
Het |
Or9e1 |
G |
T |
11: 58,732,698 (GRCm39) |
G253* |
probably null |
Het |
Otoa |
A |
G |
7: 120,759,566 (GRCm39) |
E1056G |
possibly damaging |
Het |
Plin4 |
A |
G |
17: 56,414,193 (GRCm39) |
V144A |
probably benign |
Het |
Sec16b |
T |
C |
1: 157,384,328 (GRCm39) |
|
probably benign |
Het |
Stk31 |
A |
G |
6: 49,414,455 (GRCm39) |
S485G |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,748,401 (GRCm39) |
P511L |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,357,062 (GRCm39) |
D309G |
probably damaging |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
Vsx2 |
A |
T |
12: 84,616,985 (GRCm39) |
Q90L |
probably damaging |
Het |
|
Other mutations in Oas1e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00583:Oas1e
|
APN |
5 |
120,932,337 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02072:Oas1e
|
APN |
5 |
120,929,846 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02652:Oas1e
|
APN |
5 |
120,933,470 (GRCm39) |
missense |
probably damaging |
0.99 |
R0049:Oas1e
|
UTSW |
5 |
120,933,395 (GRCm39) |
missense |
probably benign |
0.01 |
R0242:Oas1e
|
UTSW |
5 |
120,929,839 (GRCm39) |
splice site |
probably benign |
|
R0325:Oas1e
|
UTSW |
5 |
120,933,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R1528:Oas1e
|
UTSW |
5 |
120,926,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R3790:Oas1e
|
UTSW |
5 |
120,933,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R3963:Oas1e
|
UTSW |
5 |
120,932,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4811:Oas1e
|
UTSW |
5 |
120,933,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R5095:Oas1e
|
UTSW |
5 |
120,932,329 (GRCm39) |
nonsense |
probably null |
|
R5327:Oas1e
|
UTSW |
5 |
120,930,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R5860:Oas1e
|
UTSW |
5 |
120,930,015 (GRCm39) |
missense |
probably benign |
0.13 |
R5909:Oas1e
|
UTSW |
5 |
120,926,972 (GRCm39) |
missense |
probably damaging |
0.98 |
R6503:Oas1e
|
UTSW |
5 |
120,926,042 (GRCm39) |
missense |
probably benign |
0.39 |
R7167:Oas1e
|
UTSW |
5 |
120,933,487 (GRCm39) |
missense |
probably benign |
0.35 |
R7515:Oas1e
|
UTSW |
5 |
120,929,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R7563:Oas1e
|
UTSW |
5 |
120,927,021 (GRCm39) |
missense |
probably benign |
0.00 |
R8114:Oas1e
|
UTSW |
5 |
120,924,708 (GRCm39) |
missense |
unknown |
|
R8133:Oas1e
|
UTSW |
5 |
120,926,060 (GRCm39) |
missense |
probably benign |
0.00 |
R8351:Oas1e
|
UTSW |
5 |
120,925,008 (GRCm39) |
splice site |
probably null |
|
R8710:Oas1e
|
UTSW |
5 |
120,930,027 (GRCm39) |
nonsense |
probably null |
|
R9667:Oas1e
|
UTSW |
5 |
120,932,347 (GRCm39) |
missense |
probably benign |
0.28 |
RF020:Oas1e
|
UTSW |
5 |
120,932,383 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTACATGAGGACACTGGGC -3'
(R):5'- AGAGGTCTGATCTGCATAGCCC -3'
Sequencing Primer
(F):5'- GCACAGAGCAGGTAGGTAACTCAC -3'
(R):5'- ATCTGCATAGCCCCGCCC -3'
|
Posted On |
2015-02-18 |