Incidental Mutation 'R8358:Oasl1'
ID |
645860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oasl1
|
Ensembl Gene |
ENSMUSG00000041827 |
Gene Name |
2'-5' oligoadenylate synthetase-like 1 |
Synonyms |
7530414C13Rik |
MMRRC Submission |
067871-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8358 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
115061299-115075974 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115075465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 508
(F508L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031538]
[ENSMUST00000031540]
[ENSMUST00000112143]
|
AlphaFold |
Q8VI94 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031538
|
SMART Domains |
Protein: ENSMUSP00000031538 Gene: ENSMUSG00000029559
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
low complexity region
|
40 |
52 |
N/A |
INTRINSIC |
low complexity region
|
150 |
158 |
N/A |
INTRINSIC |
low complexity region
|
182 |
206 |
N/A |
INTRINSIC |
low complexity region
|
229 |
237 |
N/A |
INTRINSIC |
low complexity region
|
240 |
255 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031540
AA Change: F508L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000031540 Gene: ENSMUSG00000041827 AA Change: F508L
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 benign
Transcript: ENSMUST00000112143
AA Change: F508L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107771 Gene: ENSMUSG00000041827 AA Change: F508L
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 |
probably benign
Transcript: ENSMUST00000131427
|
Meta Mutation Damage Score |
0.0706 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (49/49) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,367,796 (GRCm39) |
S52P |
possibly damaging |
Het |
Adamts19 |
G |
T |
18: 59,181,881 (GRCm39) |
G1107C |
probably damaging |
Het |
Afap1 |
A |
T |
5: 36,131,830 (GRCm39) |
T386S |
probably benign |
Het |
Alg12 |
T |
C |
15: 88,695,503 (GRCm39) |
Y331C |
probably null |
Het |
Aste1 |
T |
A |
9: 105,274,255 (GRCm39) |
I165N |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,805 (GRCm39) |
I118T |
probably damaging |
Het |
AW551984 |
A |
G |
9: 39,510,651 (GRCm39) |
V228A |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,816,668 (GRCm39) |
Y357C |
possibly damaging |
Het |
Cacul1 |
T |
A |
19: 60,551,673 (GRCm39) |
H183L |
possibly damaging |
Het |
Casp16 |
T |
A |
17: 23,772,348 (GRCm39) |
I39F |
probably damaging |
Het |
Chd7 |
G |
T |
4: 8,839,529 (GRCm39) |
C1355F |
probably damaging |
Het |
Csnk1a1 |
A |
G |
18: 61,713,610 (GRCm39) |
|
probably null |
Het |
Ctif |
G |
A |
18: 75,698,115 (GRCm39) |
H182Y |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,329,971 (GRCm39) |
V2637I |
probably benign |
Het |
Dlx1 |
T |
A |
2: 71,360,652 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,376,457 (GRCm39) |
N1414S |
possibly damaging |
Het |
Erich6 |
A |
T |
3: 58,544,449 (GRCm39) |
L46* |
probably null |
Het |
Fcho2 |
G |
A |
13: 98,862,282 (GRCm39) |
R804* |
probably null |
Het |
Gas7 |
T |
A |
11: 67,543,734 (GRCm39) |
I114N |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,929 (GRCm39) |
T376A |
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,328,229 (GRCm39) |
M85V |
probably benign |
Het |
Klk1b16 |
T |
A |
7: 43,790,185 (GRCm39) |
C152S |
probably damaging |
Het |
Lrrc31 |
G |
A |
3: 30,753,932 (GRCm39) |
|
probably benign |
Het |
Magt1 |
C |
T |
X: 105,040,501 (GRCm39) |
A100T |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,301,855 (GRCm39) |
K1060E |
possibly damaging |
Het |
Nif3l1 |
A |
T |
1: 58,491,288 (GRCm39) |
T213S |
probably benign |
Het |
Or10ak8 |
A |
T |
4: 118,773,723 (GRCm39) |
*314R |
probably null |
Het |
Or2a25 |
T |
C |
6: 42,888,976 (GRCm39) |
V173A |
possibly damaging |
Het |
Or4a80 |
C |
T |
2: 89,582,423 (GRCm39) |
V250I |
probably benign |
Het |
Or5b122 |
T |
C |
19: 13,562,764 (GRCm39) |
L32P |
probably damaging |
Het |
Psg23 |
T |
C |
7: 18,348,522 (GRCm39) |
D95G |
probably benign |
Het |
Ptprr |
T |
C |
10: 115,884,180 (GRCm39) |
I79T |
probably benign |
Het |
Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
Rhbg |
T |
A |
3: 88,152,525 (GRCm39) |
N340Y |
probably damaging |
Het |
Sash1 |
C |
A |
10: 8,605,745 (GRCm39) |
V882L |
probably benign |
Het |
Sharpin |
C |
T |
15: 76,232,197 (GRCm39) |
V220I |
probably damaging |
Het |
Slc22a22 |
T |
A |
15: 57,108,243 (GRCm39) |
D524V |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,780,860 (GRCm39) |
Y362H |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,530,359 (GRCm39) |
D687E |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,208,411 (GRCm39) |
S127P |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,910,739 (GRCm39) |
I1213V |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,074,080 (GRCm39) |
Y813* |
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,155,837 (GRCm39) |
M131T |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,208,634 (GRCm39) |
V296F |
probably benign |
Het |
Trim45 |
T |
C |
3: 100,834,634 (GRCm39) |
V439A |
probably damaging |
Het |
Trim54 |
A |
G |
5: 31,294,338 (GRCm39) |
T325A |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,908,770 (GRCm39) |
E577G |
possibly damaging |
Het |
Uts2r |
T |
A |
11: 121,051,345 (GRCm39) |
Y70N |
probably damaging |
Het |
Vmn1r72 |
T |
G |
7: 11,404,310 (GRCm39) |
D46A |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,240,198 (GRCm39) |
V577A |
probably benign |
Het |
Zfp987 |
T |
G |
4: 146,061,343 (GRCm39) |
H258Q |
probably damaging |
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 |
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 |
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'- TCCTGAACCTGAAGCAGCAG -3'
(R):5'- GACACAGTCTTGACAGTGAGGC -3'
Sequencing Primer
(F):5'- CTGAACCTGAAGCAGCAGATAGAAG -3'
(R):5'- GGGACTGCAGAATTCCATTGTCAC -3'
|
Posted On |
2020-09-02 |