Incidental Mutation 'R1317:Ifi209'
| ID |
157558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi209
|
| Ensembl Gene |
ENSMUSG00000043263 |
| Gene Name |
interferon activated gene 209 |
| Synonyms |
Ifix, Pyhin-1, Pyhin1 |
| MMRRC Submission |
039383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R1317 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173458483-173475494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173465029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 53
(D53G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056071]
[ENSMUST00000193727]
|
| AlphaFold |
Q8BV49 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056071
AA Change: D53G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061900
Gene: ENSMUSG00000043263
AA Change: D53G
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
3.54e-17 |
SMART |
|
low complexity region
|
152 |
169 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
231 |
396 |
4.2e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193727
AA Change: D53G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142161
Gene: ENSMUSG00000043263
AA Change: D53G
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
1.7e-21 |
SMART |
|
low complexity region
|
152 |
169 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,127 (GRCm39) |
H223L |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,888 (GRCm39) |
K179E |
possibly damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,884 (GRCm39) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,573 (GRCm39) |
S520G |
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
|
| Other mutations in Ifi209 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Ifi209
|
APN |
1 |
173,466,529 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02598:Ifi209
|
APN |
1 |
173,472,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02712:Ifi209
|
APN |
1 |
173,470,267 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03131:Ifi209
|
APN |
1 |
173,468,800 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03368:Ifi209
|
APN |
1 |
173,470,057 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0880:Ifi209
|
UTSW |
1 |
173,472,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Ifi209
|
UTSW |
1 |
173,464,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1769:Ifi209
|
UTSW |
1 |
173,468,728 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2349:Ifi209
|
UTSW |
1 |
173,470,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:Ifi209
|
UTSW |
1 |
173,472,300 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5369:Ifi209
|
UTSW |
1 |
173,464,873 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5484:Ifi209
|
UTSW |
1 |
173,468,640 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5532:Ifi209
|
UTSW |
1 |
173,466,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5551:Ifi209
|
UTSW |
1 |
173,468,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5554:Ifi209
|
UTSW |
1 |
173,468,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5749:Ifi209
|
UTSW |
1 |
173,464,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Ifi209
|
UTSW |
1 |
173,466,382 (GRCm39) |
splice site |
probably null |
|
|
R6401:Ifi209
|
UTSW |
1 |
173,472,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7042:Ifi209
|
UTSW |
1 |
173,470,236 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7304:Ifi209
|
UTSW |
1 |
173,470,156 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7521:Ifi209
|
UTSW |
1 |
173,470,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7742:Ifi209
|
UTSW |
1 |
173,470,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Ifi209
|
UTSW |
1 |
173,470,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Ifi209
|
UTSW |
1 |
173,468,722 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8498:Ifi209
|
UTSW |
1 |
173,470,069 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8873:Ifi209
|
UTSW |
1 |
173,470,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Ifi209
|
UTSW |
1 |
173,464,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Ifi209
|
UTSW |
1 |
173,470,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Ifi209
|
UTSW |
1 |
173,472,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Ifi209
|
UTSW |
1 |
173,468,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Ifi209
|
UTSW |
1 |
173,464,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCATGGGTCTTTCACTCACC -3'
(R):5'- AGAAGTCTCATCTCCCAAGAGCTTCTG -3'
Sequencing Primer
(F):5'- CCTGGGTGTGTCTTGTTTTTG -3'
(R):5'- AGGCCATGTCACTTATGATCACTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation