Incidental Mutation 'R3159:Isg20'
| ID |
258060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isg20
|
| Ensembl Gene |
ENSMUSG00000039236 |
| Gene Name |
interferon-stimulated protein |
| Synonyms |
DnaQl, HEM45, 20kDa, 2010107M23Rik, 1600023I01Rik |
| MMRRC Submission |
040610-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
78563172-78570144 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78564201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 36
(A36E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038142]
[ENSMUST00000107425]
[ENSMUST00000118867]
[ENSMUST00000120331]
[ENSMUST00000121645]
[ENSMUST00000205981]
|
| AlphaFold |
Q9JL16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038142
AA Change: A36E
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040080
Gene: ENSMUSG00000039236
AA Change: A36E
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107425
|
| SMART Domains |
Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
EXOIII
|
108 |
274 |
2.04e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118867
AA Change: A36E
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112480
Gene: ENSMUSG00000039236
AA Change: A36E
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120331
AA Change: A36E
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113255
Gene: ENSMUSG00000039236
AA Change: A36E
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121645
AA Change: A36E
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112621
Gene: ENSMUSG00000039236
AA Change: A36E
| 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: ENSMUST00000123824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205981
AA Change: A36E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
C |
3: 37,013,564 (GRCm39) |
V1931A |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cdk15 |
T |
C |
1: 59,340,440 (GRCm39) |
I313T |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,909 (GRCm39) |
V464A |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,155 (GRCm39) |
I178V |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,802,355 (GRCm39) |
V110I |
probably damaging |
Het |
| Hsd17b2 |
A |
C |
8: 118,485,491 (GRCm39) |
D318A |
probably damaging |
Het |
| Ighv8-6 |
A |
G |
12: 115,129,508 (GRCm39) |
S83P |
probably damaging |
Het |
| Jade3 |
A |
G |
X: 20,345,783 (GRCm39) |
K54E |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,640,584 (GRCm39) |
Y505N |
probably damaging |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,506,855 (GRCm39) |
I274T |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,250 (GRCm39) |
T627I |
probably damaging |
Het |
| Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,105 (GRCm39) |
V33D |
possibly damaging |
Het |
| Rfx6 |
A |
T |
10: 51,602,816 (GRCm39) |
R778W |
probably damaging |
Het |
| Sav1 |
A |
T |
12: 70,031,326 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,635,611 (GRCm39) |
N328K |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,592,812 (GRCm39) |
Y1214H |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,105,760 (GRCm39) |
W332R |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trav4-4-dv10 |
A |
T |
14: 53,921,559 (GRCm39) |
K86* |
probably null |
Het |
| Zfp667 |
T |
C |
7: 6,308,999 (GRCm39) |
C556R |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,900,686 (GRCm39) |
I713T |
probably benign |
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 |
|
R2992:Isg20
|
UTSW |
7 |
78,569,632 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- TGGTTCTTGACTGACAGCC -3'
(R):5'- TTCCTCATGGGAGAGTCACAG -3'
Sequencing Primer
(F):5'- TTGACTGACAGCCTGGCTC -3'
(R):5'- TCATGGGAGAGTCACAGACCAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation