Incidental Mutation 'R4159:Oasl1'
| ID |
315654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oasl1
|
| Ensembl Gene |
ENSMUSG00000041827 |
| Gene Name |
2'-5' oligoadenylate synthetase-like 1 |
| Synonyms |
7530414C13Rik |
| MMRRC Submission |
041002-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4159 (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: 95.6%
|
| Validation Efficiency |
96% (45/47) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,466,806 (GRCm39) |
D605A |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,013,889 (GRCm39) |
H97R |
probably damaging |
Het |
| Amdhd1 |
A |
G |
10: 93,370,512 (GRCm39) |
Y109H |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,722,593 (GRCm39) |
N372S |
possibly damaging |
Het |
| Aoc2 |
G |
A |
11: 101,216,122 (GRCm39) |
M68I |
probably damaging |
Het |
| Aspscr1 |
G |
A |
11: 120,599,502 (GRCm39) |
A377T |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,985,232 (GRCm39) |
M854K |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cacnb1 |
G |
C |
11: 97,903,100 (GRCm39) |
C154W |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,781,924 (GRCm39) |
R27* |
probably null |
Het |
| Clnk |
C |
A |
5: 38,899,138 (GRCm39) |
|
probably benign |
Het |
| Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
| Fut8 |
T |
C |
12: 77,440,523 (GRCm39) |
L170P |
probably damaging |
Het |
| G3bp2 |
T |
C |
5: 92,212,260 (GRCm39) |
H217R |
probably benign |
Het |
| Gm19345 |
G |
A |
7: 19,588,886 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
| Met |
G |
T |
6: 17,562,271 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
T |
C |
15: 76,585,945 (GRCm39) |
L26P |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,970,407 (GRCm39) |
I510V |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,748,162 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slc15a5 |
G |
T |
6: 138,049,938 (GRCm39) |
T159K |
possibly damaging |
Het |
| Slc39a6 |
A |
G |
18: 24,730,885 (GRCm39) |
V362A |
possibly damaging |
Het |
| Spef2 |
A |
T |
15: 9,676,407 (GRCm39) |
D721E |
probably damaging |
Het |
| Sting1 |
A |
T |
18: 35,872,272 (GRCm39) |
Y77N |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,801,444 (GRCm39) |
N415D |
probably benign |
Het |
| Ube2d2a |
A |
T |
18: 35,903,577 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,036,512 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,088 (GRCm39) |
C368S |
probably damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,194,850 (GRCm39) |
Q23* |
probably null |
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 |
|
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'- AGGCGTTCCCTAAACATTTGC -3'
(R):5'- TTCACAAAGACCTGGATCTCAG -3'
Sequencing Primer
(F):5'- CCTAAACATTTGCTGCGGAG -3'
(R):5'- CTCAGGGGAGATGGTGTCCAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation