Incidental Mutation 'IGL00586:Oas1c'
ID |
5547 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oas1c
|
Ensembl Gene |
ENSMUSG00000001166 |
Gene Name |
2'-5' oligoadenylate synthetase 1C |
Synonyms |
Oasl5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00586
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
120938259-120950579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120946744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 29
(T29A)
|
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 benign
Transcript: ENSMUST00000117193
AA Change: T29A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112584 Gene: ENSMUSG00000001166 AA Change: T29A
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl5b |
T |
C |
2: 15,074,746 (GRCm39) |
S76P |
probably benign |
Het |
Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
Crp |
T |
C |
1: 172,526,568 (GRCm39) |
F218L |
probably benign |
Het |
Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
Gm6871 |
A |
T |
7: 41,195,845 (GRCm39) |
D297E |
possibly damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
Lmbrd2 |
G |
A |
15: 9,157,382 (GRCm39) |
V207M |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
Zfp120 |
T |
C |
2: 149,961,748 (GRCm39) |
I67V |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
Other mutations in Oas1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4164:Oas1c
|
UTSW |
5 |
120,946,204 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2012-04-20 |