Incidental Mutation 'R2193:Oas1f'
| ID |
238261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oas1f
|
| Ensembl Gene |
ENSMUSG00000053765 |
| Gene Name |
2'-5' oligoadenylate synthetase 1F |
| Synonyms |
|
| MMRRC Submission |
040195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120985432-120996049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 120989648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 196
(T196P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057814]
|
| AlphaFold |
Q14AZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057814
AA Change: T196P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056993
Gene: ENSMUSG00000053765
AA Change: T196P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
169 |
353 |
4.6e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175198
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
T |
C |
7: 43,902,993 (GRCm39) |
R289G |
probably benign |
Het |
| Bfar |
A |
G |
16: 13,515,335 (GRCm39) |
N183D |
probably benign |
Het |
| Cdca3 |
A |
G |
6: 124,808,409 (GRCm39) |
T69A |
probably damaging |
Het |
| Ces1b |
A |
T |
8: 93,806,505 (GRCm39) |
C14S |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,382,221 (GRCm39) |
I456F |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dcpp2 |
A |
C |
17: 24,119,393 (GRCm39) |
D69A |
probably damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,793,431 (GRCm39) |
I475N |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,115,623 (GRCm39) |
M1592L |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,596,532 (GRCm39) |
Q792R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,252,747 (GRCm39) |
I440V |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,671,994 (GRCm39) |
S31P |
probably damaging |
Het |
| Isoc2b |
T |
C |
7: 4,853,823 (GRCm39) |
H117R |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,536,406 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
G |
A |
16: 87,224,535 (GRCm39) |
S63F |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocln |
T |
C |
13: 100,676,412 (GRCm39) |
D27G |
probably damaging |
Het |
| Or2av9 |
A |
T |
11: 58,380,732 (GRCm39) |
M283K |
probably damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,770 (GRCm39) |
H137R |
possibly damaging |
Het |
| Rasgrf2 |
A |
C |
13: 92,160,221 (GRCm39) |
|
probably null |
Het |
| Sars2 |
G |
T |
7: 28,448,422 (GRCm39) |
V268L |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,024,761 (GRCm39) |
S1040R |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,979,404 (GRCm39) |
Y39N |
probably damaging |
Het |
|
| Other mutations in Oas1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02398:Oas1f
|
APN |
5 |
120,989,568 (GRCm39) |
missense |
probably benign |
|
|
R0378:Oas1f
|
UTSW |
5 |
120,994,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1414:Oas1f
|
UTSW |
5 |
120,989,522 (GRCm39) |
intron |
probably benign |
|
|
R1826:Oas1f
|
UTSW |
5 |
120,993,652 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1848:Oas1f
|
UTSW |
5 |
120,993,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Oas1f
|
UTSW |
5 |
120,993,648 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1960:Oas1f
|
UTSW |
5 |
120,994,502 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4622:Oas1f
|
UTSW |
5 |
120,986,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4758:Oas1f
|
UTSW |
5 |
120,985,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5882:Oas1f
|
UTSW |
5 |
120,986,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6515:Oas1f
|
UTSW |
5 |
120,986,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Oas1f
|
UTSW |
5 |
120,986,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7980:Oas1f
|
UTSW |
5 |
120,989,538 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8048:Oas1f
|
UTSW |
5 |
120,986,479 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8048:Oas1f
|
UTSW |
5 |
120,985,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Oas1f
|
UTSW |
5 |
120,989,556 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9376:Oas1f
|
UTSW |
5 |
120,986,243 (GRCm39) |
nonsense |
probably null |
|
|
R9453:Oas1f
|
UTSW |
5 |
120,993,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9777:Oas1f
|
UTSW |
5 |
120,994,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGAGAGTGACTGTGACCCTAG -3'
(R):5'- CGCTCTTGGTCATGTGATAAAGC -3'
Sequencing Primer
(F):5'- TGACTGTGACCCTAGAGAGAAG -3'
(R):5'- GGTCATGTGATAAAGCTATCATGTCC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation