Incidental Mutation 'RF006:Oas3'
| ID |
602817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oas3
|
| Ensembl Gene |
ENSMUSG00000032661 |
| Gene Name |
2'-5' oligoadenylate synthetase 3 |
| Synonyms |
Oasl10, 2'-5' oligoadenylate synthetase-like 10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
RF006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120891163-120915726 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120912165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 75
(E75G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044833]
|
| AlphaFold |
Q8VI93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044833
AA Change: E75G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035588
Gene: ENSMUSG00000032661
AA Change: E75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
159 |
341 |
6.3e-83 |
PFAM |
|
Pfam:OAS1_C
|
610 |
795 |
3.1e-78 |
PFAM |
|
Pfam:NTP_transf_2
|
831 |
920 |
4.5e-11 |
PFAM |
|
Pfam:OAS1_C
|
954 |
1136 |
9e-85 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd7 |
GTT |
GT |
2: 3,341,736 (GRCm39) |
|
probably null |
Het |
| Acp7 |
A |
T |
7: 28,314,204 (GRCm39) |
N330K |
possibly damaging |
Het |
| Adam25 |
A |
T |
8: 41,208,834 (GRCm39) |
H700L |
probably benign |
Het |
| Alg9 |
GGGTGG |
GGGTGGTGG |
9: 50,686,717 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,362,070 (GRCm39) |
V689E |
probably benign |
Het |
| Atxn2l |
A |
G |
7: 126,095,063 (GRCm39) |
V533A |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,542,238 (GRCm39) |
|
probably null |
Het |
| Ccdc121 |
C |
T |
5: 31,644,894 (GRCm39) |
Q216* |
probably null |
Het |
| Ccdc13 |
T |
C |
9: 121,643,273 (GRCm39) |
K376R |
probably damaging |
Het |
| Ccdc170 |
C |
CCAA |
10: 4,511,030 (GRCm39) |
|
probably benign |
Het |
| Cdh9 |
G |
C |
15: 16,855,916 (GRCm39) |
R652P |
probably damaging |
Het |
| Cenpf |
A |
C |
1: 189,389,583 (GRCm39) |
C1416W |
probably damaging |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,671 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
TGTGACAGACACACTGCCCAGGGAAG |
TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG |
9: 86,922,478 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGA |
CCCAGGGATGTGAGAGACACGCTGGCCAGGGA |
9: 86,922,494 (GRCm39) |
|
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,419,441 (GRCm39) |
I744T |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,029,832 (GRCm39) |
R491Q |
probably benign |
Het |
| Eif4a2 |
A |
T |
16: 22,929,028 (GRCm39) |
M188L |
possibly damaging |
Het |
| Esf1 |
CTCCTCTTC |
CTC |
2: 140,006,294 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,913 (GRCm39) |
I2030V |
probably benign |
Het |
| Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,717,183 (GRCm39) |
V195E |
possibly damaging |
Het |
| Gm17402 |
TCCTCCTCC |
TCCTCCTCCCCCTCCTCC |
3: 67,272,892 (GRCm39) |
|
probably benign |
Het |
| Gm17604 |
CTCTCTTTC |
CTC |
X: 163,786,814 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,128 (GRCm39) |
|
probably benign |
Het |
| Gnpnat1 |
T |
A |
14: 45,620,900 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
A |
C |
1: 37,427,908 (GRCm39) |
N651T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,788,768 (GRCm39) |
F81L |
possibly damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,137,809 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
CTCCTC |
CTCCTCATCCTC |
7: 30,285,802 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGCTGTGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,439,566 (GRCm39) |
S405P |
probably damaging |
Het |
| Net1 |
T |
C |
13: 3,937,406 (GRCm39) |
T245A |
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,580,332 (GRCm39) |
T203A |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,242,110 (GRCm39) |
D1491E |
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,366,634 (GRCm39) |
T704K |
probably benign |
Het |
| Pkhd1l1 |
TT |
TTTTTTTTTGT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
A |
T |
9: 92,234,702 (GRCm39) |
I146F |
possibly damaging |
Het |
| Ppp1r8 |
TCTCTCAC |
TC |
4: 132,557,928 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,340,600 (GRCm39) |
I157F |
probably benign |
Het |
| Pramel34 |
A |
T |
5: 93,784,562 (GRCm39) |
C301S |
probably benign |
Het |
| Rspo4 |
C |
T |
2: 151,709,797 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
T |
C |
11: 29,656,919 (GRCm39) |
S358P |
possibly damaging |
Het |
| Siglecg |
T |
A |
7: 43,058,288 (GRCm39) |
Y58* |
probably null |
Het |
| Slc4a1 |
C |
T |
11: 102,247,542 (GRCm39) |
|
probably null |
Het |
| Slc9b1 |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
3: 135,063,303 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,442,276 (GRCm39) |
D64E |
probably benign |
Het |
| Spaca1 |
CTCGC |
CTCGCTATCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
A |
G |
17: 24,031,562 (GRCm39) |
S236G |
unknown |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Strn |
TGCTCCCTTACCCCAGTC |
TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC |
17: 78,984,700 (GRCm39) |
|
probably null |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,038 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
A |
T |
8: 66,965,504 (GRCm39) |
E354V |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,796,959 (GRCm39) |
T94A |
probably benign |
Het |
| Usp40 |
A |
C |
1: 87,894,917 (GRCm39) |
S868A |
possibly damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,783,378 (GRCm39) |
C526Y |
probably damaging |
Het |
| Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Oas3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Oas3
|
APN |
5 |
120,915,507 (GRCm39) |
splice site |
probably benign |
|
|
IGL01095:Oas3
|
APN |
5 |
120,910,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Oas3
|
APN |
5 |
120,904,193 (GRCm39) |
nonsense |
probably null |
|
|
IGL02006:Oas3
|
APN |
5 |
120,907,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02811:Oas3
|
APN |
5 |
120,902,387 (GRCm39) |
missense |
unknown |
|
|
IGL03194:Oas3
|
APN |
5 |
120,897,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Oas3
|
UTSW |
5 |
120,896,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Oas3
|
UTSW |
5 |
120,894,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Oas3
|
UTSW |
5 |
120,894,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Oas3
|
UTSW |
5 |
120,894,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:Oas3
|
UTSW |
5 |
120,894,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Oas3
|
UTSW |
5 |
120,904,209 (GRCm39) |
missense |
unknown |
|
|
R0592:Oas3
|
UTSW |
5 |
120,909,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Oas3
|
UTSW |
5 |
120,907,128 (GRCm39) |
missense |
unknown |
|
|
R1354:Oas3
|
UTSW |
5 |
120,908,065 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1642:Oas3
|
UTSW |
5 |
120,915,639 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1681:Oas3
|
UTSW |
5 |
120,907,973 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1844:Oas3
|
UTSW |
5 |
120,898,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1981:Oas3
|
UTSW |
5 |
120,899,900 (GRCm39) |
splice site |
probably benign |
|
|
R2443:Oas3
|
UTSW |
5 |
120,915,553 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2902:Oas3
|
UTSW |
5 |
120,896,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3034:Oas3
|
UTSW |
5 |
120,909,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Oas3
|
UTSW |
5 |
120,909,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4692:Oas3
|
UTSW |
5 |
120,907,420 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4723:Oas3
|
UTSW |
5 |
120,904,321 (GRCm39) |
missense |
unknown |
|
|
R4812:Oas3
|
UTSW |
5 |
120,899,212 (GRCm39) |
unclassified |
probably benign |
|
|
R5288:Oas3
|
UTSW |
5 |
120,895,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5343:Oas3
|
UTSW |
5 |
120,894,303 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5494:Oas3
|
UTSW |
5 |
120,899,709 (GRCm39) |
missense |
unknown |
|
|
R5688:Oas3
|
UTSW |
5 |
120,896,867 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5894:Oas3
|
UTSW |
5 |
120,895,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Oas3
|
UTSW |
5 |
120,908,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Oas3
|
UTSW |
5 |
120,907,384 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6037:Oas3
|
UTSW |
5 |
120,907,384 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6066:Oas3
|
UTSW |
5 |
120,910,989 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6104:Oas3
|
UTSW |
5 |
120,899,758 (GRCm39) |
missense |
unknown |
|
|
R6134:Oas3
|
UTSW |
5 |
120,907,113 (GRCm39) |
missense |
unknown |
|
|
R6255:Oas3
|
UTSW |
5 |
120,909,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6257:Oas3
|
UTSW |
5 |
120,899,200 (GRCm39) |
unclassified |
probably benign |
|
|
R6776:Oas3
|
UTSW |
5 |
120,896,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Oas3
|
UTSW |
5 |
120,895,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8137:Oas3
|
UTSW |
5 |
120,915,565 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8967:Oas3
|
UTSW |
5 |
120,896,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9124:Oas3
|
UTSW |
5 |
120,912,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Oas3
|
UTSW |
5 |
120,892,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:Oas3
|
UTSW |
5 |
120,904,230 (GRCm39) |
missense |
unknown |
|
|
R9745:Oas3
|
UTSW |
5 |
120,899,284 (GRCm39) |
missense |
unknown |
|
|
X0024:Oas3
|
UTSW |
5 |
120,899,793 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACGAAACTGTAAGATCCTGG -3'
(R):5'- TTTCTCCAAGCTCAAGCCCG -3'
Sequencing Primer
(F):5'- GTAAGATCCTGGACGCCTTTGAC -3'
(R):5'- ACGCTGGTTCTACCTGGTGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation