Incidental Mutation 'IGL01769:Isg20'
| ID |
153811 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
78563172-78570144 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78564129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 12
(C12Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038142]
[ENSMUST00000107425]
[ENSMUST00000118867]
[ENSMUST00000120331]
[ENSMUST00000121645]
[ENSMUST00000205981]
|
| AlphaFold |
Q9JL16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038142
AA Change: C12Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040080
Gene: ENSMUSG00000039236
AA Change: C12Y
| 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 |
probably damaging
Transcript: ENSMUST00000118867
AA Change: C12Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112480
Gene: ENSMUSG00000039236
AA Change: C12Y
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120331
AA Change: C12Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113255
Gene: ENSMUSG00000039236
AA Change: C12Y
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
6 |
171 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121645
AA Change: C12Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112621
Gene: ENSMUSG00000039236
AA Change: C12Y
| 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 damaging
Transcript: ENSMUST00000205981
AA Change: C12Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,959,215 (GRCm39) |
M162L |
probably benign |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,283 (GRCm39) |
T487S |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,171,030 (GRCm39) |
|
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,111,129 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,185,145 (GRCm39) |
T657I |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,264,806 (GRCm39) |
I204K |
probably damaging |
Het |
| Crim1 |
C |
A |
17: 78,620,664 (GRCm39) |
T368K |
probably benign |
Het |
| Csad |
C |
A |
15: 102,088,516 (GRCm39) |
V237L |
probably benign |
Het |
| Cyp39a1 |
T |
G |
17: 44,060,806 (GRCm39) |
H451Q |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,723,667 (GRCm39) |
E376G |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,842,008 (GRCm39) |
Y1331F |
possibly damaging |
Het |
| Dnajc11 |
A |
T |
4: 152,063,759 (GRCm39) |
I452L |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,962,810 (GRCm39) |
|
probably benign |
Het |
| Elovl2 |
A |
C |
13: 41,340,420 (GRCm39) |
V225G |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,522,072 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt4 |
C |
T |
11: 49,525,998 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,409,834 (GRCm39) |
V478A |
possibly damaging |
Het |
| H2-Q1 |
G |
A |
17: 35,542,505 (GRCm39) |
V317M |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Igkv3-5 |
G |
A |
6: 70,640,336 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Nat8f5 |
G |
A |
6: 85,794,859 (GRCm39) |
R34C |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,759,629 (GRCm39) |
V73A |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,319,932 (GRCm39) |
S454P |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,443,760 (GRCm38) |
E176V |
probably damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,063 (GRCm39) |
I303F |
possibly damaging |
Het |
| Slc25a24 |
G |
A |
3: 109,056,816 (GRCm39) |
E110K |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,839,527 (GRCm39) |
I377L |
probably benign |
Het |
| Smim19 |
T |
C |
8: 22,953,393 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
A |
G |
17: 3,477,565 (GRCm39) |
Y596C |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ubxn8 |
G |
A |
8: 34,119,406 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
C |
A |
17: 20,691,280 (GRCm39) |
M414I |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,377 (GRCm39) |
N467S |
probably damaging |
Het |
| Zfp456 |
T |
A |
13: 67,515,272 (GRCm39) |
T145S |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation