Incidental Mutation 'R1261:Oas1h'
| ID |
151600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oas1h
|
| Ensembl Gene |
ENSMUSG00000001168 |
| Gene Name |
2'-5' oligoadenylate synthetase 1H |
| Synonyms |
|
| MMRRC Submission |
039328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1261 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120999485-121011569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121009930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 335
(E335G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072476]
[ENSMUST00000086368]
[ENSMUST00000162096]
[ENSMUST00000171820]
|
| AlphaFold |
Q8VI97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072476
AA Change: E335G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000072297
Gene: ENSMUSG00000001168
AA Change: E335G
| 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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,912,470 (GRCm39) |
V114A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,866,624 (GRCm39) |
E171G |
possibly damaging |
Het |
| Arsi |
A |
G |
18: 61,049,743 (GRCm39) |
T209A |
probably damaging |
Het |
| Bmp3 |
A |
T |
5: 99,027,785 (GRCm39) |
R468S |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,367,293 (GRCm39) |
V43E |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cul9 |
G |
T |
17: 46,836,708 (GRCm39) |
L1106M |
probably damaging |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
T |
10: 24,650,832 (GRCm39) |
V768E |
probably damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,494,714 (GRCm39) |
S66P |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,069,998 (GRCm39) |
D6G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,463,003 (GRCm39) |
K453R |
probably benign |
Het |
| Nipsnap3b |
G |
T |
4: 53,015,166 (GRCm39) |
G71V |
probably damaging |
Het |
| Or5g25 |
A |
C |
2: 85,478,143 (GRCm39) |
I174S |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Slc10a1 |
T |
A |
12: 81,014,604 (GRCm39) |
M39L |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,382,599 (GRCm39) |
R79Q |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,668,501 (GRCm39) |
T1008A |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,457,239 (GRCm39) |
D140G |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTCCTGACCCCGTGTTTAATC -3'
(R):5'- GCAGTTTACAAGCAGCTTGCCTTC -3'
Sequencing Primer
(F):5'- tgccccaggacacacag -3'
(R):5'- AGCTTGCCTTCACAGAAGTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation