Incidental Mutation 'R2992:Isg20'
| ID |
257936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isg20
|
| Ensembl Gene |
ENSMUSG00000039236 |
| Gene Name |
interferon-stimulated protein |
| Synonyms |
DnaQl, HEM45, 20kDa, 2010107M23Rik, 1600023I01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2992 (G1)
|
| Quality Score |
170 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78563172-78570144 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78569632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 201
(A201V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038142]
[ENSMUST00000118867]
[ENSMUST00000120331]
[ENSMUST00000121645]
[ENSMUST00000205981]
|
| AlphaFold |
Q9JL16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038142
|
| SMART Domains |
Protein: ENSMUSP00000040080
Gene: ENSMUSG00000039236
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118867
|
| SMART Domains |
Protein: ENSMUSP00000112480
Gene: ENSMUSG00000039236
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120331
|
| SMART Domains |
Protein: ENSMUSP00000113255
Gene: ENSMUSG00000039236
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121645
AA Change: A201V
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112621
Gene: ENSMUSG00000039236
AA Change: A201V
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
176 |
8.25e-29 |
SMART |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206812
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Baat |
A |
T |
4: 49,499,675 (GRCm39) |
Y210* |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,244,043 (GRCm39) |
K1471I |
probably damaging |
Het |
| Cpne4 |
A |
T |
9: 104,899,564 (GRCm39) |
I416F |
probably damaging |
Het |
| Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
| Kdm6b |
ACTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTG |
11: 69,297,133 (GRCm39) |
|
probably benign |
Het |
| Mmp16 |
G |
T |
4: 18,011,657 (GRCm39) |
G191C |
probably damaging |
Het |
| Or51aa5 |
C |
T |
7: 103,166,977 (GRCm39) |
V205M |
probably damaging |
Het |
| Or6c2b |
C |
A |
10: 128,947,404 (GRCm39) |
E297* |
probably null |
Het |
| Or9m2 |
T |
C |
2: 87,821,121 (GRCm39) |
V222A |
probably benign |
Het |
| Patl2 |
T |
C |
2: 121,956,235 (GRCm39) |
S210G |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,222,396 (GRCm39) |
I994T |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,772 (GRCm39) |
S100P |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,155,190 (GRCm39) |
L418P |
probably damaging |
Het |
| Spink5 |
A |
C |
18: 44,129,696 (GRCm39) |
E429A |
probably damaging |
Het |
|
| Other mutations in Isg20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Isg20
|
APN |
7 |
78,566,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Isg20
|
APN |
7 |
78,569,836 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01680:Isg20
|
APN |
7 |
78,566,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01769:Isg20
|
APN |
7 |
78,564,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Isg20
|
UTSW |
7 |
78,566,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Isg20
|
UTSW |
7 |
78,566,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Isg20
|
UTSW |
7 |
78,564,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Isg20
|
UTSW |
7 |
78,564,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0400:Isg20
|
UTSW |
7 |
78,566,473 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1562:Isg20
|
UTSW |
7 |
78,569,891 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1610:Isg20
|
UTSW |
7 |
78,564,257 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1894:Isg20
|
UTSW |
7 |
78,569,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2033:Isg20
|
UTSW |
7 |
78,566,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3159:Isg20
|
UTSW |
7 |
78,564,201 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4678:Isg20
|
UTSW |
7 |
78,564,076 (GRCm39) |
unclassified |
probably benign |
|
|
R5787:Isg20
|
UTSW |
7 |
78,569,558 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7834:Isg20
|
UTSW |
7 |
78,569,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8554:Isg20
|
UTSW |
7 |
78,566,425 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9046:Isg20
|
UTSW |
7 |
78,569,823 (GRCm39) |
nonsense |
probably null |
|
|
R9052:Isg20
|
UTSW |
7 |
78,566,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Isg20
|
UTSW |
7 |
78,569,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTTCTGTTTTAGCGCC -3'
(R):5'- GCATCTTCCACAGAGCAGTG -3'
Sequencing Primer
(F):5'- GTGTTTCCCAGGTCCTGC -3'
(R):5'- CACAGAGCAGTGGCCCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation