Incidental Mutation 'R5242:Oasl2'
| ID |
400902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oasl2
|
| Ensembl Gene |
ENSMUSG00000029561 |
| Gene Name |
2'-5' oligoadenylate synthetase-like 2 |
| Synonyms |
M1204, Mmu-OASL |
| MMRRC Submission |
042813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115034997-115050295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115043122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 298
(Q298L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031542]
[ENSMUST00000124716]
|
| AlphaFold |
Q9Z2F2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031542
AA Change: Q298L
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031542
Gene: ENSMUSG00000029561
AA Change: Q298L
| 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
AA Change: Q78L
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115070
Gene: ENSMUSG00000029561
AA Change: Q78L
| 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: ENSMUST00000129707
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201445
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,657,711 (GRCm39) |
V439A |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,483,157 (GRCm39) |
V390A |
probably damaging |
Het |
| Alox5 |
T |
C |
6: 116,437,927 (GRCm39) |
D20G |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,600,009 (GRCm39) |
F487I |
probably damaging |
Het |
| BC048679 |
G |
A |
7: 81,145,091 (GRCm39) |
T84M |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,039,373 (GRCm39) |
S191P |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,064,497 (GRCm39) |
V131A |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,423 (GRCm39) |
T425A |
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,158 (GRCm39) |
Y180H |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,448,440 (GRCm39) |
S231G |
probably benign |
Het |
| Diaph1 |
C |
T |
18: 37,984,688 (GRCm39) |
G1176R |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,864,484 (GRCm39) |
V2230L |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,176,676 (GRCm39) |
S152P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,805,109 (GRCm39) |
D1250E |
probably benign |
Het |
| G6pd2 |
A |
G |
5: 61,966,785 (GRCm39) |
I187V |
probably benign |
Het |
| Gm10113 |
T |
C |
13: 46,330,992 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxd1 |
A |
G |
2: 74,593,792 (GRCm39) |
D116G |
probably damaging |
Het |
| Igkv13-85 |
A |
T |
6: 68,907,544 (GRCm39) |
I19K |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,880,486 (GRCm39) |
V288M |
probably damaging |
Het |
| Ndrg2 |
A |
G |
14: 52,148,541 (GRCm39) |
|
probably null |
Het |
| Neurl3 |
G |
A |
1: 36,308,501 (GRCm39) |
Q104* |
probably null |
Het |
| Nudt16l1 |
C |
T |
16: 4,757,485 (GRCm39) |
R133W |
probably damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,848 (GRCm39) |
M84K |
possibly damaging |
Het |
| Or51a25 |
C |
T |
7: 102,373,483 (GRCm39) |
M71I |
probably benign |
Het |
| Pnma2 |
C |
A |
14: 67,153,746 (GRCm39) |
Q57K |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,382,181 (GRCm39) |
L172I |
probably benign |
Het |
| Rps7 |
T |
A |
12: 28,681,136 (GRCm39) |
E188D |
probably benign |
Het |
| Rrp1b |
T |
C |
17: 32,270,677 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina9 |
C |
A |
12: 103,974,644 (GRCm39) |
A170S |
probably benign |
Het |
| Shmt2 |
C |
T |
10: 127,354,789 (GRCm39) |
V299I |
probably benign |
Het |
| Siae |
C |
T |
9: 37,556,148 (GRCm39) |
P435S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,630,242 (GRCm39) |
S99P |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Stimate |
T |
A |
14: 30,547,793 (GRCm39) |
F36I |
probably damaging |
Het |
| Tas2r124 |
T |
C |
6: 132,732,503 (GRCm39) |
Y271H |
possibly damaging |
Het |
| Thsd7a |
A |
T |
6: 12,327,582 (GRCm39) |
I1430K |
probably damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,084 (GRCm39) |
K229R |
probably benign |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,360 (GRCm39) |
V84E |
possibly damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,434 (GRCm39) |
R110Q |
possibly damaging |
Het |
| Usp3 |
C |
T |
9: 66,434,432 (GRCm39) |
C283Y |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,309 (GRCm39) |
Y733* |
probably null |
Het |
| Wdr75 |
T |
A |
1: 45,856,487 (GRCm39) |
C503* |
probably null |
Het |
| Zfp764 |
T |
C |
7: 127,004,541 (GRCm39) |
M197V |
probably benign |
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 |
|
R3962:Oasl2
|
UTSW |
5 |
115,035,808 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CTGACCATCTACGCCTGGG -3'
(R):5'- GGTTGAACCACTCACAGACAGA -3'
Sequencing Primer
(F):5'- ACCATCTACGCCTGGGAGATG -3'
(R):5'- CAAAGAACTCCATGCTGGGTTTCG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation