Incidental Mutation 'IGL01890:Oas1h'
ID |
179229 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oas1h
|
Ensembl Gene |
ENSMUSG00000001168 |
Gene Name |
2'-5' oligoadenylate synthetase 1H |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL01890
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
120999485-121011569 bp(+) (GRCm39) |
Type of Mutation |
splice site (4803 bp from exon) |
DNA Base Change (assembly) |
A to G
at 121000852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057814]
[ENSMUST00000072476]
[ENSMUST00000171820]
|
AlphaFold |
Q8VI97 |
Predicted Effect |
probably null
Transcript: ENSMUST00000057814
|
SMART Domains |
Protein: ENSMUSP00000056993 Gene: ENSMUSG00000053765
Domain | Start | End | E-Value | Type |
Pfam:OAS1_C
|
169 |
353 |
4.6e-81 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072476
AA Change: E154G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072297 Gene: ENSMUSG00000001168 AA Change: E154G
Domain | Start | End | E-Value | Type |
Pfam:NTP_transf_2
|
45 |
146 |
1.6e-9 |
PFAM |
Pfam:OAS1_C
|
175 |
361 |
2.3e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123431
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171820
AA Change: E154G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132033 Gene: ENSMUSG00000001168 AA Change: E154G
Domain | Start | End | E-Value | Type |
Pfam:NTP_transf_2
|
46 |
157 |
1.6e-7 |
PFAM |
Pfam:OAS1_C
|
174 |
236 |
1e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
T |
12: 80,231,642 (GRCm39) |
V265E |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,480,389 (GRCm39) |
I865V |
probably benign |
Het |
Car5a |
G |
A |
8: 122,650,349 (GRCm39) |
A182V |
probably benign |
Het |
Ccdc47 |
A |
G |
11: 106,096,277 (GRCm39) |
V249A |
probably damaging |
Het |
Cyb561d2 |
A |
G |
9: 107,418,722 (GRCm39) |
V34A |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,676,149 (GRCm39) |
|
probably benign |
Het |
Entpd6 |
G |
A |
2: 150,612,612 (GRCm39) |
D445N |
possibly damaging |
Het |
Fastkd2 |
A |
G |
1: 63,771,320 (GRCm39) |
I225M |
probably benign |
Het |
Flcn |
A |
G |
11: 59,685,996 (GRCm39) |
V424A |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gpn3 |
A |
G |
5: 122,519,328 (GRCm39) |
M176V |
probably benign |
Het |
Igkv12-38 |
C |
T |
6: 69,920,389 (GRCm39) |
C43Y |
probably damaging |
Het |
Rexo1 |
A |
T |
10: 80,378,845 (GRCm39) |
Y1064N |
possibly damaging |
Het |
Skint1 |
G |
A |
4: 111,867,878 (GRCm39) |
G2R |
probably damaging |
Het |
Slc4a9 |
G |
A |
18: 36,662,760 (GRCm39) |
A172T |
possibly damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,146 (GRCm39) |
S727P |
probably damaging |
Het |
Tmem131 |
A |
T |
1: 36,862,237 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
G |
T |
19: 22,689,083 (GRCm39) |
R4L |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,786,880 (GRCm39) |
V879E |
possibly damaging |
Het |
Vmn1r194 |
A |
T |
13: 22,428,776 (GRCm39) |
Y131F |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r95 |
T |
A |
17: 18,671,737 (GRCm39) |
N491K |
probably damaging |
Het |
|
Other mutations in Oas1h |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01676:Oas1h
|
APN |
5 |
121,009,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02745:Oas1h
|
APN |
5 |
120,999,542 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02888:Oas1h
|
APN |
5 |
120,999,610 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02970:Oas1h
|
APN |
5 |
120,999,698 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0125:Oas1h
|
UTSW |
5 |
121,000,626 (GRCm39) |
nonsense |
probably null |
|
R1261:Oas1h
|
UTSW |
5 |
121,009,930 (GRCm39) |
missense |
probably benign |
0.01 |
R1506:Oas1h
|
UTSW |
5 |
121,009,951 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1565:Oas1h
|
UTSW |
5 |
121,000,663 (GRCm39) |
missense |
probably damaging |
0.97 |
R1696:Oas1h
|
UTSW |
5 |
121,000,885 (GRCm39) |
critical splice donor site |
probably null |
|
R1750:Oas1h
|
UTSW |
5 |
121,009,840 (GRCm39) |
splice site |
probably null |
|
R3116:Oas1h
|
UTSW |
5 |
120,999,679 (GRCm39) |
nonsense |
probably null |
|
R4814:Oas1h
|
UTSW |
5 |
121,000,728 (GRCm39) |
missense |
probably damaging |
0.99 |
R4906:Oas1h
|
UTSW |
5 |
121,005,172 (GRCm39) |
nonsense |
probably null |
|
R4944:Oas1h
|
UTSW |
5 |
121,000,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Oas1h
|
UTSW |
5 |
121,009,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R5160:Oas1h
|
UTSW |
5 |
121,009,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Oas1h
|
UTSW |
5 |
121,009,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R5903:Oas1h
|
UTSW |
5 |
121,009,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R6014:Oas1h
|
UTSW |
5 |
121,005,229 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7062:Oas1h
|
UTSW |
5 |
120,999,528 (GRCm39) |
unclassified |
probably benign |
|
R7966:Oas1h
|
UTSW |
5 |
121,009,962 (GRCm39) |
missense |
probably damaging |
0.97 |
R7975:Oas1h
|
UTSW |
5 |
121,009,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Oas1h
|
UTSW |
5 |
121,005,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777-TAIL:Oas1h
|
UTSW |
5 |
121,005,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R8951:Oas1h
|
UTSW |
5 |
121,000,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Oas1h
|
UTSW |
5 |
121,005,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9748:Oas1h
|
UTSW |
5 |
121,005,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-05-07 |