Incidental Mutation 'R3415:Ifi203'
ID |
266751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi203
|
Ensembl Gene |
ENSMUSG00000039997 |
Gene Name |
interferon activated gene 203 |
Synonyms |
|
MMRRC Submission |
040633-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R3415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 173756326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 486
(R486*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042228]
[ENSMUST00000081216]
[ENSMUST00000111210]
[ENSMUST00000123708]
[ENSMUST00000129829]
[ENSMUST00000156895]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 benign
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 benign
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
AA Change: R486*
|
SMART Domains |
Protein: ENSMUSP00000122424 Gene: ENSMUSG00000039997 AA Change: R486*
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 |
probably benign
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
|
Other mutations in Ifi203 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00565:Ifi203
|
APN |
1 |
173,765,306 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCCCTTGTGTCAATGGAG -3'
(R):5'- TCCTAAAGTTGCATCCTCCAG -3'
Sequencing Primer
(F):5'- GGTGCACTTATTTCTGGACAC -3'
(R):5'- GTTGCATCCTCCAGCAACAG -3'
|
Posted On |
2015-02-18 |