Incidental Mutation 'R4164:Oas1c'
| ID |
321652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oas1c
|
| Ensembl Gene |
ENSMUSG00000001166 |
| Gene Name |
2'-5' oligoadenylate synthetase 1C |
| Synonyms |
Oasl5 |
| MMRRC Submission |
041638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120938259-120950579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120946204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 98
(E98G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086377]
[ENSMUST00000117193]
[ENSMUST00000125547]
[ENSMUST00000183291]
|
| AlphaFold |
Q924S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086377
|
| SMART Domains |
Protein: ENSMUSP00000083564
Gene: ENSMUSG00000029605
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
158 |
251 |
7.1e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117193
AA Change: E98G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112584
Gene: ENSMUSG00000001166
AA Change: E98G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
168 |
354 |
1.4e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130045
|
| SMART Domains |
Protein: ENSMUSP00000122510
Gene: ENSMUSG00000001166
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
89 |
146 |
3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182725
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183291
|
| SMART Domains |
Protein: ENSMUSP00000138088
Gene: ENSMUSG00000029605
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OAS1_C
|
158 |
345 |
3.4e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201006
|
| Meta Mutation Damage Score |
0.2093 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
89% (40/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
C |
T |
11: 69,780,863 (GRCm39) |
A164T |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,273 (GRCm39) |
D384G |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,781,681 (GRCm39) |
V666A |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,725,764 (GRCm39) |
N739K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,066,575 (GRCm39) |
W2598* |
probably null |
Het |
| Ell |
G |
T |
8: 71,034,223 (GRCm39) |
R30L |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Fer1l6 |
A |
C |
15: 58,431,087 (GRCm39) |
R247S |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi203 |
A |
T |
1: 173,756,029 (GRCm39) |
|
probably benign |
Het |
| Ighm |
T |
A |
12: 113,385,915 (GRCm39) |
E108V |
unknown |
Het |
| Il23r |
T |
A |
6: 67,400,647 (GRCm39) |
Q561L |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,436 (GRCm39) |
D703G |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,537,368 (GRCm39) |
Y1109F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,367,497 (GRCm39) |
Y1760N |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,038,617 (GRCm39) |
E950G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,787,119 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
C |
15: 55,472,917 (GRCm39) |
V627A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nipbl |
T |
C |
15: 8,368,418 (GRCm39) |
N1142S |
probably benign |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Or8a1b |
T |
G |
9: 37,622,994 (GRCm39) |
I194L |
probably benign |
Het |
| Otx1 |
A |
G |
11: 21,946,638 (GRCm39) |
|
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,981,098 (GRCm39) |
F85S |
possibly damaging |
Het |
| Rnf214 |
G |
A |
9: 45,783,210 (GRCm39) |
R184W |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,324,844 (GRCm39) |
N1328S |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,593,803 (GRCm39) |
|
probably benign |
Het |
| Smarcal1 |
A |
G |
1: 72,665,848 (GRCm39) |
|
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
| Sox5 |
T |
A |
6: 144,062,206 (GRCm39) |
R149W |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,084,545 (GRCm39) |
C11R |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,706,697 (GRCm39) |
H509L |
probably benign |
Het |
|
| Other mutations in Oas1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Oas1c
|
APN |
5 |
120,946,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01472:Oas1c
|
APN |
5 |
120,940,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01931:Oas1c
|
APN |
5 |
120,943,560 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02429:Oas1c
|
APN |
5 |
120,940,133 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02498:Oas1c
|
APN |
5 |
120,943,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02696:Oas1c
|
APN |
5 |
120,943,528 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02957:Oas1c
|
APN |
5 |
120,943,478 (GRCm39) |
nonsense |
probably null |
|
|
sandshrew
|
UTSW |
5 |
120,946,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0562:Oas1c
|
UTSW |
5 |
120,943,669 (GRCm39) |
splice site |
probably benign |
|
|
R1819:Oas1c
|
UTSW |
5 |
120,946,800 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1853:Oas1c
|
UTSW |
5 |
120,946,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Oas1c
|
UTSW |
5 |
120,941,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2248:Oas1c
|
UTSW |
5 |
120,940,926 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2258:Oas1c
|
UTSW |
5 |
120,941,082 (GRCm39) |
missense |
probably null |
1.00 |
|
R2570:Oas1c
|
UTSW |
5 |
120,943,503 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3965:Oas1c
|
UTSW |
5 |
120,946,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5146:Oas1c
|
UTSW |
5 |
120,940,159 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5875:Oas1c
|
UTSW |
5 |
120,943,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Oas1c
|
UTSW |
5 |
120,943,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7219:Oas1c
|
UTSW |
5 |
120,940,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Oas1c
|
UTSW |
5 |
120,943,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Oas1c
|
UTSW |
5 |
120,940,207 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7578:Oas1c
|
UTSW |
5 |
120,940,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Oas1c
|
UTSW |
5 |
120,939,107 (GRCm39) |
missense |
probably benign |
|
|
R8891:Oas1c
|
UTSW |
5 |
120,946,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9013:Oas1c
|
UTSW |
5 |
120,943,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Oas1c
|
UTSW |
5 |
120,946,202 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9588:Oas1c
|
UTSW |
5 |
120,946,202 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGACTTACATAGGACATCATAG -3'
(R):5'- ACATGGGTGAGCTCTCAGTG -3'
Sequencing Primer
(F):5'- CTTACATAGGACATCATAGGCTGGC -3'
(R):5'- AGTGGTGGACTCCTACTCTATTCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation