Incidental Mutation 'R7766:Oasl1'
| ID |
598233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oasl1
|
| Ensembl Gene |
ENSMUSG00000041827 |
| Gene Name |
2'-5' oligoadenylate synthetase-like 1 |
| Synonyms |
7530414C13Rik |
| MMRRC Submission |
045822-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
115061299-115075974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115075169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 410
(A410S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031540]
[ENSMUST00000112143]
|
| AlphaFold |
Q8VI94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031540
AA Change: A410S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031540
Gene: ENSMUSG00000041827
AA Change: A410S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
Pfam:OAS1_C
|
162 |
348 |
8e-76 |
PFAM |
|
UBQ
|
350 |
425 |
1.58e0 |
SMART |
|
UBQ
|
430 |
501 |
2.22e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112143
AA Change: A410S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107771
Gene: ENSMUSG00000041827
AA Change: A410S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
Pfam:OAS1_C
|
163 |
346 |
1.9e-79 |
PFAM |
|
UBQ
|
350 |
425 |
1.58e0 |
SMART |
|
UBQ
|
430 |
501 |
2.22e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
PHENOTYPE: Mice with a deletion of this gene have increased expression of type I interferon and show increased resistance to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,615,300 (GRCm39) |
F58S |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,331,540 (GRCm39) |
M1309K |
probably benign |
Het |
| Ascc1 |
A |
T |
10: 59,840,641 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccdc85b |
A |
T |
19: 5,506,880 (GRCm39) |
S182R |
probably damaging |
Het |
| Cnpy3 |
G |
T |
17: 47,048,161 (GRCm39) |
Q185K |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,827 (GRCm39) |
Y25H |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,592,101 (GRCm39) |
F725I |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,167,782 (GRCm39) |
F1022L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,725 (GRCm39) |
L63P |
probably benign |
Het |
| Egr4 |
C |
T |
6: 85,489,181 (GRCm39) |
G293D |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,727 (GRCm39) |
F98I |
possibly damaging |
Het |
| Gfm2 |
C |
T |
13: 97,286,908 (GRCm39) |
S169F |
probably damaging |
Het |
| Hexim2 |
C |
G |
11: 103,029,838 (GRCm39) |
P297A |
probably benign |
Het |
| Hnrnpab |
G |
A |
11: 51,492,293 (GRCm39) |
T314I |
unknown |
Het |
| Ift88 |
T |
C |
14: 57,685,111 (GRCm39) |
F309S |
possibly damaging |
Het |
| Ins2 |
T |
A |
7: 142,232,494 (GRCm39) |
T97S |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,990,427 (GRCm39) |
I905V |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,094 (GRCm39) |
Y720C |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
T |
A |
6: 126,716,682 (GRCm39) |
D69V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,496,846 (GRCm39) |
C588R |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,766,042 (GRCm39) |
T175S |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,357,397 (GRCm39) |
M125K |
probably benign |
Het |
| Ms4a4b |
A |
C |
19: 11,427,352 (GRCm39) |
M24L |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,249,155 (GRCm39) |
S1292R |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,556,052 (GRCm39) |
D923G |
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,326,333 (GRCm39) |
I2425M |
probably benign |
Het |
| Or52d1 |
T |
A |
7: 103,756,201 (GRCm39) |
C238* |
probably null |
Het |
| Or5p80 |
C |
T |
7: 108,229,583 (GRCm39) |
S128F |
probably benign |
Het |
| Or9g4b |
T |
A |
2: 85,616,002 (GRCm39) |
I49N |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,458,286 (GRCm39) |
K507E |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,465,743 (GRCm39) |
N159S |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,809 (GRCm39) |
K445E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,474 (GRCm39) |
S1028P |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,107 (GRCm39) |
S30G |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,809 (GRCm39) |
I45F |
probably damaging |
Het |
| Slc17a6 |
A |
T |
7: 51,318,914 (GRCm39) |
I519F |
probably benign |
Het |
| Tacc2 |
C |
T |
7: 130,345,328 (GRCm39) |
H2582Y |
probably damaging |
Het |
| Tmem176a |
A |
T |
6: 48,821,116 (GRCm39) |
|
probably null |
Het |
| Tnr |
A |
T |
1: 159,715,880 (GRCm39) |
T881S |
probably benign |
Het |
| Trp63 |
A |
T |
16: 25,686,969 (GRCm39) |
R394S |
probably damaging |
Het |
| Tsga8 |
A |
G |
X: 82,530,704 (GRCm39) |
L135P |
unknown |
Het |
| Ttn |
T |
C |
2: 76,645,042 (GRCm39) |
T12938A |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,149,061 (GRCm39) |
D104V |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,947,183 (GRCm39) |
S835P |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,219 (GRCm39) |
V609E |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,084 (GRCm39) |
S168G |
probably benign |
Het |
|
| Other mutations in Oasl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Oasl1
|
APN |
5 |
115,075,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02061:Oasl1
|
APN |
5 |
115,061,651 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02888:Oasl1
|
APN |
5 |
115,075,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03230:Oasl1
|
APN |
5 |
115,075,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ammonite
|
UTSW |
5 |
115,074,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dreadnaught
|
UTSW |
5 |
115,074,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
nautilus
|
UTSW |
5 |
115,075,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
spirogyra
|
UTSW |
5 |
115,075,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03048:Oasl1
|
UTSW |
5 |
115,075,400 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1510:Oasl1
|
UTSW |
5 |
115,066,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1680:Oasl1
|
UTSW |
5 |
115,074,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Oasl1
|
UTSW |
5 |
115,061,528 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2090:Oasl1
|
UTSW |
5 |
115,073,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Oasl1
|
UTSW |
5 |
115,070,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3978:Oasl1
|
UTSW |
5 |
115,070,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Oasl1
|
UTSW |
5 |
115,070,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4158:Oasl1
|
UTSW |
5 |
115,075,073 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4159:Oasl1
|
UTSW |
5 |
115,075,073 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4160:Oasl1
|
UTSW |
5 |
115,075,073 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4161:Oasl1
|
UTSW |
5 |
115,075,073 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4797:Oasl1
|
UTSW |
5 |
115,066,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5354:Oasl1
|
UTSW |
5 |
115,075,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Oasl1
|
UTSW |
5 |
115,074,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5820:Oasl1
|
UTSW |
5 |
115,075,037 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5919:Oasl1
|
UTSW |
5 |
115,066,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Oasl1
|
UTSW |
5 |
115,075,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Oasl1
|
UTSW |
5 |
115,073,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Oasl1
|
UTSW |
5 |
115,067,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Oasl1
|
UTSW |
5 |
115,074,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Oasl1
|
UTSW |
5 |
115,066,220 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8358:Oasl1
|
UTSW |
5 |
115,075,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Oasl1
|
UTSW |
5 |
115,066,331 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9695:Oasl1
|
UTSW |
5 |
115,074,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Oasl1
|
UTSW |
5 |
115,070,804 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATCCAGGTGACCGTGCAG -3'
(R):5'- TTTAAAGTCAAACCAGTCCTCCAGG -3'
Sequencing Primer
(F):5'- TGACCGTGCAGGAGTGG -3'
(R):5'- AGGATGTGGCCCTGGAACTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation