Incidental Mutation 'IGL00565:Ifi203'
ID |
7318 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ifi203
|
Ensembl Gene |
ENSMUSG00000039997 |
Gene Name |
interferon activated gene 203 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL00565
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 173765306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042228]
[ENSMUST00000081216]
[ENSMUST00000111210]
[ENSMUST00000123708]
[ENSMUST00000129829]
[ENSMUST00000156895]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000042228
|
SMART Domains |
Protein: ENSMUSP00000042071 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
Pfam:HIN
|
251 |
418 |
1.5e-77 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000081216
|
SMART Domains |
Protein: ENSMUSP00000079976 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
174 |
183 |
N/A |
INTRINSIC |
Pfam:HIN
|
203 |
370 |
1.3e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111210
|
SMART Domains |
Protein: ENSMUSP00000106841 Gene: ENSMUSG00000090272
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
83 |
3.71e-20 |
SMART |
internal_repeat_1
|
152 |
166 |
2.38e-7 |
PROSPERO |
low complexity region
|
170 |
200 |
N/A |
INTRINSIC |
internal_repeat_1
|
208 |
222 |
2.38e-7 |
PROSPERO |
low complexity region
|
225 |
249 |
N/A |
INTRINSIC |
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
Pfam:HIN
|
311 |
479 |
3.4e-76 |
PFAM |
low complexity region
|
497 |
507 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123708
|
SMART Domains |
Protein: ENSMUSP00000121480 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
174 |
183 |
N/A |
INTRINSIC |
Pfam:HIN
|
203 |
370 |
1.3e-76 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128430
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129829
|
SMART Domains |
Protein: ENSMUSP00000122424 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
Pfam:HIN
|
665 |
831 |
7.2e-73 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138143
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140143
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156895
|
SMART Domains |
Protein: ENSMUSP00000114221 Gene: ENSMUSG00000039997
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
Pfam:HIN
|
251 |
418 |
1.5e-77 |
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 |
2610021A01Rik |
C |
A |
7: 41,274,996 (GRCm39) |
T233K |
possibly damaging |
Het |
Adamts9 |
A |
T |
6: 92,836,883 (GRCm39) |
M623K |
possibly damaging |
Het |
Arid1a |
T |
G |
4: 133,412,793 (GRCm39) |
D1467A |
unknown |
Het |
Cdhr2 |
A |
G |
13: 54,866,112 (GRCm39) |
D304G |
probably damaging |
Het |
Cenpj |
C |
T |
14: 56,790,487 (GRCm39) |
V521I |
probably benign |
Het |
Ciao2a |
A |
T |
9: 66,039,898 (GRCm39) |
I72L |
probably benign |
Het |
Csf2rb |
G |
T |
15: 78,232,714 (GRCm39) |
E674* |
probably null |
Het |
Dnai3 |
T |
C |
3: 145,750,674 (GRCm39) |
|
probably benign |
Het |
Edaradd |
C |
T |
13: 12,498,480 (GRCm39) |
|
probably null |
Het |
Emilin2 |
A |
G |
17: 71,559,854 (GRCm39) |
V1041A |
possibly damaging |
Het |
Fam135b |
A |
G |
15: 71,343,361 (GRCm39) |
V418A |
probably benign |
Het |
Gnas |
T |
A |
2: 174,183,504 (GRCm39) |
|
probably benign |
Het |
Grxcr1 |
A |
T |
5: 68,189,540 (GRCm39) |
N104Y |
possibly damaging |
Het |
Gtf2a1l |
T |
A |
17: 89,001,723 (GRCm39) |
L146Q |
probably damaging |
Het |
Hectd1 |
T |
A |
12: 51,837,181 (GRCm39) |
E791D |
probably damaging |
Het |
Klk1b11 |
A |
G |
7: 43,649,243 (GRCm39) |
N260S |
probably damaging |
Het |
LTO1 |
G |
T |
7: 144,470,220 (GRCm39) |
V50F |
probably damaging |
Het |
Map4 |
A |
T |
9: 109,901,672 (GRCm39) |
|
probably benign |
Het |
Marveld2 |
C |
T |
13: 100,737,401 (GRCm39) |
V163M |
possibly damaging |
Het |
Med14 |
T |
C |
X: 12,613,003 (GRCm39) |
|
probably benign |
Het |
Mex3b |
A |
T |
7: 82,518,116 (GRCm39) |
I144F |
probably damaging |
Het |
Pde2a |
T |
A |
7: 101,133,796 (GRCm39) |
C92* |
probably null |
Het |
Phf6 |
T |
A |
X: 52,020,516 (GRCm39) |
Y103N |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,402,111 (GRCm39) |
I1039T |
probably damaging |
Het |
Rftn2 |
C |
A |
1: 55,243,444 (GRCm39) |
V275F |
probably damaging |
Het |
Skap1 |
C |
A |
11: 96,621,971 (GRCm39) |
Q296K |
probably damaging |
Het |
Skap1 |
T |
A |
11: 96,622,016 (GRCm39) |
F311I |
probably damaging |
Het |
Tas2r115 |
A |
G |
6: 132,714,741 (GRCm39) |
I70T |
probably benign |
Het |
Vav2 |
T |
C |
2: 27,167,250 (GRCm39) |
D613G |
probably benign |
Het |
Zranb3 |
T |
C |
1: 127,943,877 (GRCm39) |
E290G |
probably benign |
Het |
|
Other mutations in Ifi203 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02598:Ifi203
|
APN |
1 |
173,762,568 (GRCm39) |
splice site |
probably benign |
|
IGL03172:Ifi203
|
APN |
1 |
173,764,158 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03334:Ifi203
|
APN |
1 |
173,765,401 (GRCm39) |
nonsense |
probably null |
|
FR4304:Ifi203
|
UTSW |
1 |
173,755,894 (GRCm39) |
intron |
probably benign |
|
R0593:Ifi203
|
UTSW |
1 |
173,756,215 (GRCm39) |
intron |
probably benign |
|
R0827:Ifi203
|
UTSW |
1 |
173,756,029 (GRCm39) |
intron |
probably benign |
|
R1163:Ifi203
|
UTSW |
1 |
173,751,703 (GRCm39) |
missense |
probably damaging |
0.98 |
R1769:Ifi203
|
UTSW |
1 |
173,756,326 (GRCm39) |
nonsense |
probably null |
|
R3415:Ifi203
|
UTSW |
1 |
173,756,326 (GRCm39) |
nonsense |
probably null |
|
R3737:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
R3738:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
R3739:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
R3791:Ifi203
|
UTSW |
1 |
173,762,646 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3847:Ifi203
|
UTSW |
1 |
173,761,362 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4035:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
R4156:Ifi203
|
UTSW |
1 |
173,764,106 (GRCm39) |
missense |
probably damaging |
0.98 |
R4164:Ifi203
|
UTSW |
1 |
173,756,029 (GRCm39) |
intron |
probably benign |
|
R4171:Ifi203
|
UTSW |
1 |
173,761,341 (GRCm39) |
splice site |
probably benign |
|
R4200:Ifi203
|
UTSW |
1 |
173,751,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R4233:Ifi203
|
UTSW |
1 |
173,764,099 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4845:Ifi203
|
UTSW |
1 |
173,754,595 (GRCm39) |
missense |
probably benign |
0.00 |
R4880:Ifi203
|
UTSW |
1 |
173,756,716 (GRCm39) |
intron |
probably benign |
|
R5071:Ifi203
|
UTSW |
1 |
173,762,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5108:Ifi203
|
UTSW |
1 |
173,751,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5284:Ifi203
|
UTSW |
1 |
173,756,274 (GRCm39) |
intron |
probably benign |
|
R5335:Ifi203
|
UTSW |
1 |
173,754,485 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6198:Ifi203
|
UTSW |
1 |
173,751,648 (GRCm39) |
missense |
probably damaging |
0.97 |
R6236:Ifi203
|
UTSW |
1 |
173,761,479 (GRCm39) |
missense |
probably benign |
0.33 |
R6397:Ifi203
|
UTSW |
1 |
173,754,770 (GRCm39) |
missense |
probably benign |
0.33 |
R6929:Ifi203
|
UTSW |
1 |
173,756,340 (GRCm39) |
intron |
probably benign |
|
R7025:Ifi203
|
UTSW |
1 |
173,755,951 (GRCm39) |
intron |
probably benign |
|
R7149:Ifi203
|
UTSW |
1 |
173,756,494 (GRCm39) |
missense |
unknown |
|
R7320:Ifi203
|
UTSW |
1 |
173,756,733 (GRCm39) |
missense |
unknown |
|
R7631:Ifi203
|
UTSW |
1 |
173,754,688 (GRCm39) |
missense |
unknown |
|
R7913:Ifi203
|
UTSW |
1 |
173,754,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Ifi203
|
UTSW |
1 |
173,756,266 (GRCm39) |
missense |
unknown |
|
R8297:Ifi203
|
UTSW |
1 |
173,765,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R8537:Ifi203
|
UTSW |
1 |
173,756,472 (GRCm39) |
intron |
probably benign |
|
R8919:Ifi203
|
UTSW |
1 |
173,756,494 (GRCm39) |
missense |
unknown |
|
R8936:Ifi203
|
UTSW |
1 |
173,756,857 (GRCm39) |
intron |
probably benign |
|
R9081:Ifi203
|
UTSW |
1 |
173,757,048 (GRCm39) |
missense |
unknown |
|
R9223:Ifi203
|
UTSW |
1 |
173,765,437 (GRCm39) |
missense |
probably benign |
0.42 |
R9255:Ifi203
|
UTSW |
1 |
173,756,787 (GRCm39) |
missense |
unknown |
|
R9351:Ifi203
|
UTSW |
1 |
173,750,133 (GRCm39) |
missense |
probably benign |
0.33 |
R9397:Ifi203
|
UTSW |
1 |
173,765,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R9506:Ifi203
|
UTSW |
1 |
173,751,565 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9586:Ifi203
|
UTSW |
1 |
173,754,623 (GRCm39) |
nonsense |
probably null |
|
R9598:Ifi203
|
UTSW |
1 |
173,751,522 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ifi203
|
UTSW |
1 |
173,756,147 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2012-04-20 |