Incidental Mutation 'IGL01676:Oas1h'
| ID |
103634 |
| 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 # |
IGL01676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120999485-121011569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121009897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 324
(G324V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072476]
[ENSMUST00000086368]
[ENSMUST00000162096]
[ENSMUST00000171820]
|
| AlphaFold |
Q8VI97 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072476
AA Change: G324V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: G324V
| 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: ENSMUST00000086368
|
| SMART Domains |
Protein: ENSMUSP00000083555
Gene: ENSMUSG00000066861
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transf_2
|
38 |
139 |
1.6e-13 |
PFAM |
|
Pfam:OAS1_C
|
164 |
349 |
6.9e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162096
|
| SMART Domains |
Protein: ENSMUSP00000124597
Gene: ENSMUSG00000066861
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transf_2
|
42 |
138 |
1.1e-9 |
PFAM |
|
Pfam:OAS1_C
|
163 |
231 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171820
|
| SMART Domains |
Protein: ENSMUSP00000132033
Gene: ENSMUSG00000001168
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
T |
7: 119,307,866 (GRCm39) |
R334S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,825,613 (GRCm39) |
F1075L |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,029,402 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,969 (GRCm39) |
N223D |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,274,222 (GRCm39) |
R2228G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,288,196 (GRCm39) |
E1894G |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,447 (GRCm39) |
K110E |
probably damaging |
Het |
| Catsperz |
G |
T |
19: 6,902,421 (GRCm39) |
Y24* |
probably null |
Het |
| Clec9a |
T |
G |
6: 129,398,118 (GRCm39) |
S219A |
probably benign |
Het |
| Csrnp3 |
T |
A |
2: 65,779,336 (GRCm39) |
I16N |
probably damaging |
Het |
| Ddx19a |
A |
G |
8: 111,707,621 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
G |
A |
18: 37,989,241 (GRCm39) |
Q905* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,880,392 (GRCm39) |
M2743T |
possibly damaging |
Het |
| Ears2 |
A |
T |
7: 121,643,781 (GRCm39) |
D392E |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,070,865 (GRCm39) |
|
probably benign |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,323 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,432 (GRCm39) |
K1767R |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,236,756 (GRCm39) |
A1142T |
probably benign |
Het |
| Lpar6 |
A |
G |
14: 73,477,010 (GRCm39) |
N324D |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,933 (GRCm39) |
D237E |
possibly damaging |
Het |
| Pak1 |
T |
G |
7: 97,532,738 (GRCm39) |
D179E |
probably benign |
Het |
| Prop1 |
T |
A |
11: 50,842,956 (GRCm39) |
Q77L |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,501,231 (GRCm39) |
Y184* |
probably null |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Trim67 |
A |
T |
8: 125,541,899 (GRCm39) |
I366F |
possibly damaging |
Het |
| Vmn2r94 |
T |
G |
17: 18,477,272 (GRCm39) |
M380L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,133 (GRCm39) |
N397S |
probably damaging |
Het |
| Zfand3 |
T |
G |
17: 30,354,337 (GRCm39) |
S51R |
possibly damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,624 (GRCm39) |
S197G |
probably benign |
Het |
|
| Other mutations in Oas1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01890:Oas1h
|
APN |
5 |
121,000,852 (GRCm39) |
splice site |
probably null |
|
|
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 |
2014-01-21 |
Incidental Mutation