Incidental Mutation 'R5532:Ifi209'
| ID |
436207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi209
|
| Ensembl Gene |
ENSMUSG00000043263 |
| Gene Name |
interferon activated gene 209 |
| Synonyms |
Ifix, Pyhin-1, Pyhin1 |
| MMRRC Submission |
043090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R5532 (G1)
|
| Quality Score |
86 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173458483-173475494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173466542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 125
(S125P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056071]
[ENSMUST00000193727]
|
| AlphaFold |
Q8BV49 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056071
AA Change: S125P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061900
Gene: ENSMUSG00000043263
AA Change: S125P
| 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: S125P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142161
Gene: ENSMUSG00000043263
AA Change: S125P
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
1.7e-21 |
SMART |
|
low complexity region
|
152 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200598
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,293 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
G |
15: 80,848,110 (GRCm39) |
P118A |
probably damaging |
Het |
| Ano6 |
C |
T |
15: 95,860,122 (GRCm39) |
P748L |
probably damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,146,701 (GRCm39) |
N234K |
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,722,104 (GRCm39) |
I25K |
possibly damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,481 (GRCm39) |
Y345C |
probably damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,510,329 (GRCm39) |
V561A |
probably benign |
Het |
| Cenpv |
G |
A |
11: 62,418,398 (GRCm39) |
T185M |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,153,163 (GRCm39) |
D3683V |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,765 (GRCm39) |
D415G |
possibly damaging |
Het |
| Gatad2a |
G |
A |
8: 70,369,070 (GRCm39) |
T259M |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,827,648 (GRCm39) |
S5G |
probably benign |
Het |
| Iigp1c |
A |
G |
18: 60,379,142 (GRCm39) |
I226V |
probably benign |
Het |
| Il12rb2 |
G |
A |
6: 67,269,246 (GRCm39) |
R856W |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,869,622 (GRCm39) |
Y605* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,950 (GRCm39) |
S251P |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,779 (GRCm39) |
N890D |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,863,746 (GRCm39) |
S324T |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,333,684 (GRCm39) |
D419G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,210 (GRCm39) |
L283P |
probably benign |
Het |
| Ndufb7 |
T |
A |
8: 84,298,063 (GRCm39) |
Y95N |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,309,075 (GRCm39) |
R280W |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,174,245 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or6f1 |
A |
C |
7: 85,970,879 (GRCm39) |
F94V |
possibly damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,923 (GRCm39) |
T277I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,608,943 (GRCm39) |
T240A |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,788,924 (GRCm39) |
R293* |
probably null |
Het |
| Pabpc4l |
T |
C |
3: 46,401,044 (GRCm39) |
D200G |
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,349,514 (GRCm39) |
E361G |
possibly damaging |
Het |
| Pramel31 |
A |
T |
4: 144,090,061 (GRCm39) |
D367V |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,819,046 (GRCm39) |
Y1423C |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,329,902 (GRCm39) |
D1143N |
probably damaging |
Het |
| Spsb4 |
C |
T |
9: 96,877,627 (GRCm39) |
|
probably null |
Het |
| Strada |
G |
T |
11: 106,061,843 (GRCm39) |
A136E |
probably damaging |
Het |
| Syce2 |
A |
T |
8: 85,610,131 (GRCm39) |
Q73L |
probably damaging |
Het |
| Teddm2 |
A |
T |
1: 153,726,130 (GRCm39) |
V195D |
probably benign |
Het |
| Tex36 |
A |
T |
7: 133,203,712 (GRCm39) |
N12K |
probably benign |
Het |
| Ubtf |
A |
G |
11: 102,199,785 (GRCm39) |
S484P |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,636,680 (GRCm39) |
L66R |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,601,197 (GRCm39) |
A814T |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,267,353 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
A |
C |
12: 40,385,308 (GRCm39) |
C305G |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,579,740 (GRCm39) |
C248S |
probably damaging |
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 |
|
R1317:Ifi209
|
UTSW |
1 |
173,465,029 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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 |
|
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'- CTTCTCTAGCAGTGGGAGGTAAG -3'
(R):5'- GTTCAGACACACGAATGACCAG -3'
Sequencing Primer
(F):5'- TGAGAGCAAAGGGTGTACTTCAGTTC -3'
(R):5'- CTAGGTCCTATGACTAGATGGA -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation