Incidental Mutation 'R4161:Oasl1'
| ID |
321519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oasl1
|
| Ensembl Gene |
ENSMUSG00000041827 |
| Gene Name |
2'-5' oligoadenylate synthetase-like 1 |
| Synonyms |
7530414C13Rik |
| MMRRC Submission |
041004-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4161 (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: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (39/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
A |
G |
9: 121,738,588 (GRCm39) |
Y321C |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,919,728 (GRCm39) |
S163P |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,382,234 (GRCm39) |
M70T |
probably benign |
Het |
| Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,281 (GRCm39) |
I339N |
probably damaging |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cxcl2 |
A |
T |
5: 91,051,881 (GRCm39) |
|
probably null |
Het |
| Exosc3 |
T |
C |
4: 45,320,619 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,348,853 (GRCm39) |
K86N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,489,824 (GRCm39) |
A3579T |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,996,958 (GRCm39) |
V1726I |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
| Hmgcll1 |
A |
T |
9: 75,982,198 (GRCm39) |
|
probably benign |
Het |
| Igkv3-12 |
T |
A |
6: 70,495,542 (GRCm39) |
V23E |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,402,919 (GRCm39) |
C95R |
possibly damaging |
Het |
| Kif16b |
G |
A |
2: 142,549,324 (GRCm39) |
H1064Y |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
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 |
| Plec |
T |
C |
15: 76,063,851 (GRCm39) |
E2141G |
possibly damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,724 (GRCm39) |
S395P |
probably damaging |
Het |
| Prss12 |
A |
T |
3: 123,279,176 (GRCm39) |
K418* |
probably null |
Het |
| Rtn3 |
G |
A |
19: 7,460,444 (GRCm39) |
A2V |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,281,898 (GRCm39) |
T452A |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
| Spred3 |
A |
G |
7: 28,861,210 (GRCm39) |
L323P |
probably damaging |
Het |
| Srprb |
A |
G |
9: 103,078,529 (GRCm39) |
F67S |
possibly damaging |
Het |
| Tk2 |
T |
C |
8: 104,965,465 (GRCm39) |
S101G |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,658,751 (GRCm39) |
L1135P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Usp38 |
C |
T |
8: 81,719,967 (GRCm39) |
A421T |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,833,277 (GRCm39) |
N3058K |
probably damaging |
Het |
| Vmn1r221 |
G |
A |
13: 23,402,176 (GRCm39) |
|
noncoding transcript |
Het |
| Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,356 (GRCm39) |
S707P |
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 |
|
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'- TCACAAAGACCTGGATCTCAG -3'
Sequencing Primer
(F):5'- CCTAAACATTTGCTGCGGAG -3'
(R):5'- CTCAGGGGAGATGGTGTCCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation