Incidental Mutation 'R7521:Ifi209'
| ID |
582655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi209
|
| Ensembl Gene |
ENSMUSG00000043263 |
| Gene Name |
interferon activated gene 209 |
| Synonyms |
Ifix, Pyhin-1, Pyhin1 |
| MMRRC Submission |
045593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173458483-173475494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 173470261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 283
(N283I)
|
| 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: N283I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061900
Gene: ENSMUSG00000043263
AA Change: N283I
| 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 |
probably benign
Transcript: ENSMUST00000193727
|
| SMART Domains |
Protein: ENSMUSP00000142161
Gene: ENSMUSG00000043263
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
1.7e-21 |
SMART |
|
low complexity region
|
152 |
169 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
A |
G |
17: 31,283,543 (GRCm39) |
N76S |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,979,715 (GRCm39) |
V333A |
possibly damaging |
Het |
| Arid1b |
GGCGGC |
GGCGGCAGCGGC |
17: 5,046,135 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,392,865 (GRCm39) |
T2079A |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,507,674 (GRCm39) |
*190R |
probably null |
Het |
| Cntnap3 |
G |
T |
13: 64,919,815 (GRCm39) |
Q681K |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,449,346 (GRCm39) |
D689G |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,880,663 (GRCm39) |
S2645T |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 161,962,113 (GRCm39) |
L32H |
probably damaging |
Het |
| Dtx4 |
T |
C |
19: 12,469,861 (GRCm39) |
K89E |
probably benign |
Het |
| Exph5 |
T |
A |
9: 53,285,377 (GRCm39) |
N819K |
possibly damaging |
Het |
| Fpgt |
A |
G |
3: 154,792,765 (GRCm39) |
S421P |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,382 (GRCm39) |
V22A |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,213 (GRCm39) |
R544Q |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,480 (GRCm39) |
L590Q |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,935,344 (GRCm39) |
D172G |
possibly damaging |
Het |
| Igsf11 |
C |
T |
16: 38,829,274 (GRCm39) |
T115M |
probably damaging |
Het |
| Il17rd |
T |
A |
14: 26,816,823 (GRCm39) |
M320K |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,409,148 (GRCm39) |
C1610* |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,241,412 (GRCm39) |
I175L |
probably benign |
Het |
| Mif |
A |
T |
10: 75,695,942 (GRCm39) |
S21T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,514,792 (GRCm39) |
Q542R |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,530,870 (GRCm39) |
E1389D |
probably damaging |
Het |
| Or55b3 |
C |
T |
7: 102,126,402 (GRCm39) |
R225H |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,257 (GRCm39) |
I272V |
probably benign |
Het |
| Or5t16 |
T |
A |
2: 86,818,954 (GRCm39) |
T189S |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,036 (GRCm39) |
I181T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,432,196 (GRCm39) |
D1473V |
probably benign |
Het |
| Phax |
C |
T |
18: 56,708,990 (GRCm39) |
Q185* |
probably null |
Het |
| Ppp2r2b |
T |
A |
18: 43,192,242 (GRCm39) |
S22C |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,597,090 (GRCm39) |
F153L |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,805,710 (GRCm39) |
S154P |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,241,763 (GRCm39) |
T121I |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,665,268 (GRCm39) |
V488A |
possibly damaging |
Het |
| Tdrp |
G |
A |
8: 14,003,831 (GRCm39) |
Q169* |
probably null |
Het |
| Tmem30b |
C |
T |
12: 73,592,092 (GRCm39) |
R341H |
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 |
|
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 |
|
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 |
|
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'- TGCTGTGTACATTCTATGCAGAG -3'
(R):5'- CCTCTTTTCTTCGAGCAAAGATAG -3'
Sequencing Primer
(F):5'- GAACCTTCTGAGGAAAATGGTCACC -3'
(R):5'- CGAGCAAAGATAGTTGATTTTAGGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation