Incidental Mutation 'R3847:Ifi203'
ID |
277404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi203
|
Ensembl Gene |
ENSMUSG00000039997 |
Gene Name |
interferon activated gene 203 |
Synonyms |
|
MMRRC Submission |
040895-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R3847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 173761362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 229
(C229Y)
|
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
AA Change: C229Y
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000042071 Gene: ENSMUSG00000039997 AA Change: C229Y
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 |
possibly damaging
Transcript: ENSMUST00000129829
AA Change: C229Y
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122424 Gene: ENSMUSG00000039997 AA Change: C229Y
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
AA Change: C229Y
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114221 Gene: ENSMUSG00000039997 AA Change: C229Y
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 |
noncoding transcript
Transcript: ENSMUST00000140143
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
C |
5: 109,884,190 (GRCm39) |
|
probably null |
Het |
Abcc12 |
C |
T |
8: 87,280,020 (GRCm39) |
E338K |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,190,906 (GRCm39) |
S815T |
probably benign |
Het |
Ankrd16 |
G |
A |
2: 11,794,619 (GRCm39) |
E335K |
probably benign |
Het |
Atm |
A |
G |
9: 53,414,375 (GRCm39) |
F905S |
possibly damaging |
Het |
Bckdha |
C |
T |
7: 25,331,077 (GRCm39) |
R281H |
probably damaging |
Het |
Blvra |
C |
T |
2: 126,937,111 (GRCm39) |
T188I |
probably damaging |
Het |
Bmp8b |
C |
A |
4: 123,009,961 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
Cacng8 |
T |
C |
7: 3,442,990 (GRCm39) |
S84P |
probably damaging |
Het |
Cad |
T |
A |
5: 31,218,994 (GRCm39) |
V605E |
probably damaging |
Het |
Ccny |
A |
G |
18: 9,449,641 (GRCm39) |
S11P |
probably benign |
Het |
Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
Corin |
T |
C |
5: 72,579,508 (GRCm39) |
E155G |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,836,061 (GRCm39) |
Y1195C |
probably damaging |
Het |
Cyp27a1 |
A |
G |
1: 74,776,718 (GRCm39) |
E501G |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,414,581 (GRCm39) |
N457K |
possibly damaging |
Het |
Dnah7a |
T |
G |
1: 53,540,815 (GRCm39) |
I2520L |
probably benign |
Het |
Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
Fgf14 |
A |
C |
14: 124,217,801 (GRCm39) |
I234R |
probably benign |
Het |
Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
Gad2 |
T |
G |
2: 22,575,000 (GRCm39) |
D472E |
probably benign |
Het |
Garnl3 |
G |
T |
2: 32,882,240 (GRCm39) |
H832N |
probably benign |
Het |
Gm13941 |
T |
C |
2: 110,935,198 (GRCm39) |
M11V |
unknown |
Het |
Gnptab |
T |
A |
10: 88,269,439 (GRCm39) |
L714* |
probably null |
Het |
Golgb1 |
C |
A |
16: 36,719,095 (GRCm39) |
Q334K |
probably benign |
Het |
Gp9 |
A |
G |
6: 87,756,133 (GRCm39) |
I49M |
probably benign |
Het |
Guf1 |
A |
G |
5: 69,718,500 (GRCm39) |
N213S |
probably damaging |
Het |
H2-K2 |
T |
G |
17: 34,216,303 (GRCm39) |
H281P |
probably damaging |
Het |
Hhip |
T |
A |
8: 80,724,124 (GRCm39) |
M373L |
probably benign |
Het |
Ighv13-2 |
A |
G |
12: 114,321,418 (GRCm39) |
L88S |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 106,944,012 (GRCm39) |
Y92H |
possibly damaging |
Het |
Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
Lrguk |
A |
G |
6: 34,050,703 (GRCm39) |
D387G |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mknk2 |
C |
T |
10: 80,503,809 (GRCm39) |
W367* |
probably null |
Het |
Mocos |
A |
G |
18: 24,809,719 (GRCm39) |
K441E |
probably damaging |
Het |
Mpnd |
T |
C |
17: 56,318,692 (GRCm39) |
S150P |
probably damaging |
Het |
Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
Neurod4 |
C |
T |
10: 130,106,351 (GRCm39) |
V308I |
probably benign |
Het |
Nxf3 |
C |
T |
X: 134,974,732 (GRCm39) |
V474I |
probably benign |
Het |
Or10d5j |
A |
T |
9: 39,867,877 (GRCm39) |
M118K |
probably damaging |
Het |
Or8u10 |
A |
T |
2: 85,915,751 (GRCm39) |
Y123* |
probably null |
Het |
Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
Pde5a |
T |
C |
3: 122,596,809 (GRCm39) |
Y467H |
probably damaging |
Het |
Pibf1 |
T |
A |
14: 99,374,557 (GRCm39) |
V332E |
possibly damaging |
Het |
Plxna1 |
C |
A |
6: 89,333,501 (GRCm39) |
R376L |
probably damaging |
Het |
Proz |
A |
G |
8: 13,123,533 (GRCm39) |
E268G |
probably benign |
Het |
Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
Rnf103 |
C |
G |
6: 71,485,859 (GRCm39) |
C163W |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
Septin11 |
G |
T |
5: 93,310,026 (GRCm39) |
M276I |
probably damaging |
Het |
Slc30a4 |
A |
G |
2: 122,544,192 (GRCm39) |
V50A |
probably damaging |
Het |
Sorbs1 |
A |
G |
19: 40,302,887 (GRCm39) |
V570A |
probably damaging |
Het |
Spout1 |
T |
C |
2: 30,067,419 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
C |
12: 76,095,396 (GRCm39) |
L5241P |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
Thsd1 |
A |
G |
8: 22,749,427 (GRCm39) |
H713R |
probably damaging |
Het |
Ttc21b |
A |
G |
2: 66,073,023 (GRCm39) |
L221S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r105 |
A |
G |
17: 20,428,952 (GRCm39) |
I708T |
possibly damaging |
Het |
Vmn2r117 |
G |
T |
17: 23,679,389 (GRCm39) |
H612N |
probably damaging |
Het |
Wnk1 |
C |
T |
6: 119,946,315 (GRCm39) |
G613S |
possibly damaging |
Het |
Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
Het |
Zfp335 |
C |
A |
2: 164,742,026 (GRCm39) |
|
probably null |
Het |
Zmym2 |
T |
A |
14: 57,158,956 (GRCm39) |
|
probably benign |
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 |
|
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 |
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'- GTGTAGACTGGCCAGTACCC -3'
(R):5'- TGGAATAAAGTCCTTGGGCACA -3'
Sequencing Primer
(F):5'- GTGTAGACTGGCCAGTACCCATAATC -3'
(R):5'- TGGTTTCAATAAGCCGACGC -3'
|
Posted On |
2015-04-06 |