Incidental Mutation 'R4158:Oasl1'
| ID |
315621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oasl1
|
| Ensembl Gene |
ENSMUSG00000041827 |
| Gene Name |
2'-5' oligoadenylate synthetase-like 1 |
| Synonyms |
7530414C13Rik |
| MMRRC Submission |
041001-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
115061299-115075974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115075073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 378
(K378E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031540]
[ENSMUST00000112143]
|
| AlphaFold |
Q8VI94 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031540
AA Change: K378E
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031540
Gene: ENSMUSG00000041827
AA Change: K378E
| 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 |
possibly damaging
Transcript: ENSMUST00000112143
AA Change: K378E
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107771
Gene: ENSMUSG00000041827
AA Change: K378E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155394
|
| Meta Mutation Damage Score |
0.0817 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (38/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,103,854 (GRCm39) |
H597R |
probably damaging |
Het |
| Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
| Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,798,575 (GRCm39) |
E25G |
probably damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,990,145 (GRCm39) |
V1869A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
| Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,067,641 (GRCm39) |
L1173F |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
| Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,308,031 (GRCm39) |
T35A |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,986,220 (GRCm39) |
|
probably benign |
Het |
| Flcn |
T |
C |
11: 59,691,947 (GRCm39) |
N234S |
probably benign |
Het |
| Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
| Il22b |
T |
C |
10: 118,129,037 (GRCm39) |
T151A |
probably damaging |
Het |
| Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,807,303 (GRCm39) |
I345T |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
| Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
| Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,513,625 (GRCm39) |
N470S |
probably benign |
Het |
| Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
| Tex14 |
T |
G |
11: 87,407,595 (GRCm39) |
S900R |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,622,339 (GRCm39) |
H421Q |
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 |
|
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 |
|
R7766:Oasl1
|
UTSW |
5 |
115,075,169 (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'- GGCGTTCCCTAAACATTTGC -3'
(R):5'- TCACAAAGACCTGGATCTCAG -3'
Sequencing Primer
(F):5'- CCTAAACATTTGCTGCGGAG -3'
(R):5'- CTCAGGGGAGATGGTGTCCAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation