Incidental Mutation 'R3617:Ifi204'
| ID |
268457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi204
|
| Ensembl Gene |
ENSMUSG00000073489 |
| Gene Name |
interferon activated gene 204 |
| Synonyms |
p204 |
| MMRRC Submission |
040674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R3617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173574859-173594509 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173583283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 312
(I312V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111214]
|
| AlphaFold |
P0DOV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111214
AA Change: I312V
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106845
Gene: ENSMUSG00000073489
AA Change: I312V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
8.33e-14 |
SMART |
|
low complexity region
|
120 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
225 |
393 |
6.2e-78 |
PFAM |
|
Pfam:HIN
|
429 |
595 |
9.8e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192414
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cbfa2t2 |
A |
T |
2: 154,278,904 (GRCm39) |
|
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
| Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
| Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
| Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
| Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
| Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
| Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
| Ndufa9 |
G |
T |
6: 126,826,071 (GRCm39) |
|
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
| Pigw |
T |
C |
11: 84,769,133 (GRCm39) |
I65M |
probably damaging |
Het |
| Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
| Rel |
A |
T |
11: 23,695,780 (GRCm39) |
D202E |
probably damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,330,759 (GRCm39) |
T47M |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
| Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,357,975 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ifi204 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Ifi204
|
APN |
1 |
173,587,197 (GRCm39) |
splice site |
probably benign |
|
|
IGL01922:Ifi204
|
APN |
1 |
173,589,288 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02296:Ifi204
|
APN |
1 |
173,576,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02419:Ifi204
|
APN |
1 |
173,576,946 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02505:Ifi204
|
APN |
1 |
173,583,220 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0938:Ifi204
|
UTSW |
1 |
173,579,311 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1363:Ifi204
|
UTSW |
1 |
173,576,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1834:Ifi204
|
UTSW |
1 |
173,575,172 (GRCm39) |
missense |
unknown |
|
|
R2031:Ifi204
|
UTSW |
1 |
173,580,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Ifi204
|
UTSW |
1 |
173,589,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2379:Ifi204
|
UTSW |
1 |
173,583,559 (GRCm39) |
nonsense |
probably null |
|
|
R2408:Ifi204
|
UTSW |
1 |
173,583,198 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3011:Ifi204
|
UTSW |
1 |
173,579,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3894:Ifi204
|
UTSW |
1 |
173,576,774 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3916:Ifi204
|
UTSW |
1 |
173,583,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4656:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4657:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4694:Ifi204
|
UTSW |
1 |
173,576,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4703:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4704:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4894:Ifi204
|
UTSW |
1 |
173,587,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4947:Ifi204
|
UTSW |
1 |
173,583,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5023:Ifi204
|
UTSW |
1 |
173,579,306 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5036:Ifi204
|
UTSW |
1 |
173,580,311 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5119:Ifi204
|
UTSW |
1 |
173,583,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:Ifi204
|
UTSW |
1 |
173,576,910 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5762:Ifi204
|
UTSW |
1 |
173,580,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6063:Ifi204
|
UTSW |
1 |
173,579,223 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6808:Ifi204
|
UTSW |
1 |
173,589,269 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7311:Ifi204
|
UTSW |
1 |
173,587,134 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7338:Ifi204
|
UTSW |
1 |
173,587,703 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7430:Ifi204
|
UTSW |
1 |
173,583,247 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7528:Ifi204
|
UTSW |
1 |
173,579,406 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7985:Ifi204
|
UTSW |
1 |
173,587,772 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8021:Ifi204
|
UTSW |
1 |
173,586,919 (GRCm39) |
intron |
probably benign |
|
|
R8137:Ifi204
|
UTSW |
1 |
173,589,188 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8141:Ifi204
|
UTSW |
1 |
173,583,189 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8191:Ifi204
|
UTSW |
1 |
173,579,226 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8487:Ifi204
|
UTSW |
1 |
173,587,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9075:Ifi204
|
UTSW |
1 |
173,589,282 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9124:Ifi204
|
UTSW |
1 |
173,579,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9311:Ifi204
|
UTSW |
1 |
173,589,215 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9498:Ifi204
|
UTSW |
1 |
173,583,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9712:Ifi204
|
UTSW |
1 |
173,576,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ifi204
|
UTSW |
1 |
173,579,194 (GRCm39) |
missense |
probably null |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGTAGAGTCTTGTGTTGCAATAC -3'
(R):5'- CTTCATGCTACAGTGGCTACAG -3'
Sequencing Primer
(F):5'- GTGTTGCAATACTGTCATTAAGCAC -3'
(R):5'- GCTACAGTGAGCCAGTATTTCCATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation