Incidental Mutation 'R3962:Oasl2'
ID |
312122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oasl2
|
Ensembl Gene |
ENSMUSG00000029561 |
Gene Name |
2'-5' oligoadenylate synthetase-like 2 |
Synonyms |
M1204, Mmu-OASL |
MMRRC Submission |
040837-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3962 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
115034997-115050295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115035808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 28
(D28G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031542]
[ENSMUST00000124716]
[ENSMUST00000146072]
[ENSMUST00000150361]
|
AlphaFold |
Q9Z2F2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031542
AA Change: D28G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031542 Gene: ENSMUSG00000029561 AA Change: D28G
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
Pfam:OAS1_C
|
169 |
351 |
8.4e-77 |
PFAM |
SCOP:d1euvb_
|
355 |
427 |
4e-4 |
SMART |
Blast:UBQ
|
355 |
430 |
9e-30 |
BLAST |
UBQ
|
435 |
506 |
8.88e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124716
|
SMART Domains |
Protein: ENSMUSP00000115070 Gene: ENSMUSG00000029561
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
1 |
131 |
1.2e-48 |
PFAM |
SCOP:d1euvb_
|
135 |
207 |
6e-5 |
SMART |
Blast:UBQ
|
135 |
210 |
9e-32 |
BLAST |
Blast:UBQ
|
215 |
240 |
5e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137828
|
Predicted Effect |
unknown
Transcript: ENSMUST00000144064
AA Change: D2G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146072
AA Change: D28G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000117795 Gene: ENSMUSG00000029561 AA Change: D28G
Domain | Start | End | E-Value | Type |
PDB:1PX5|B
|
6 |
101 |
4e-10 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150361
AA Change: D28G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000119042 Gene: ENSMUSG00000029561 AA Change: D28G
Domain | Start | End | E-Value | Type |
PDB:1PX5|B
|
6 |
140 |
3e-13 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201919
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201445
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
probably damaging |
Het |
|
Other mutations in Oasl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02054:Oasl2
|
APN |
5 |
115,035,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02649:Oasl2
|
APN |
5 |
115,035,753 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Oasl2
|
APN |
5 |
115,035,852 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03153:Oasl2
|
APN |
5 |
115,039,393 (GRCm39) |
missense |
probably benign |
0.02 |
R0179:Oasl2
|
UTSW |
5 |
115,048,973 (GRCm39) |
missense |
probably benign |
|
R1318:Oasl2
|
UTSW |
5 |
115,039,442 (GRCm39) |
missense |
probably benign |
0.01 |
R1831:Oasl2
|
UTSW |
5 |
115,039,367 (GRCm39) |
missense |
probably benign |
0.00 |
R1941:Oasl2
|
UTSW |
5 |
115,049,423 (GRCm39) |
utr 3 prime |
probably benign |
|
R2068:Oasl2
|
UTSW |
5 |
115,049,298 (GRCm39) |
missense |
probably benign |
0.01 |
R2104:Oasl2
|
UTSW |
5 |
115,049,063 (GRCm39) |
nonsense |
probably null |
|
R2170:Oasl2
|
UTSW |
5 |
115,044,861 (GRCm39) |
missense |
probably damaging |
0.99 |
R2437:Oasl2
|
UTSW |
5 |
115,049,357 (GRCm39) |
missense |
probably benign |
|
R2882:Oasl2
|
UTSW |
5 |
115,049,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R3960:Oasl2
|
UTSW |
5 |
115,043,098 (GRCm39) |
missense |
probably benign |
0.03 |
R4609:Oasl2
|
UTSW |
5 |
115,037,857 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4761:Oasl2
|
UTSW |
5 |
115,037,836 (GRCm39) |
missense |
probably benign |
0.00 |
R5242:Oasl2
|
UTSW |
5 |
115,043,122 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5691:Oasl2
|
UTSW |
5 |
115,037,828 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6594:Oasl2
|
UTSW |
5 |
115,044,836 (GRCm39) |
missense |
probably benign |
0.30 |
R7053:Oasl2
|
UTSW |
5 |
115,049,291 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7062:Oasl2
|
UTSW |
5 |
115,049,152 (GRCm39) |
nonsense |
probably null |
|
R7688:Oasl2
|
UTSW |
5 |
115,035,909 (GRCm39) |
missense |
probably benign |
0.01 |
R7753:Oasl2
|
UTSW |
5 |
115,043,118 (GRCm39) |
missense |
probably benign |
|
R8026:Oasl2
|
UTSW |
5 |
115,040,329 (GRCm39) |
unclassified |
probably benign |
|
R8160:Oasl2
|
UTSW |
5 |
115,039,347 (GRCm39) |
unclassified |
probably benign |
|
R8479:Oasl2
|
UTSW |
5 |
115,035,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R9429:Oasl2
|
UTSW |
5 |
115,043,040 (GRCm39) |
missense |
probably benign |
|
R9585:Oasl2
|
UTSW |
5 |
115,035,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCAGTTTCTCCAAGGAGGG -3'
(R):5'- ATGGCCCACCTCTCAAGTTC -3'
Sequencing Primer
(F):5'- AGGGGCAGAGCGCTTTTC -3'
(R):5'- GTTCACAAGCCCCACAGG -3'
|
Posted On |
2015-04-29 |