Incidental Mutation 'R2349:Ifi209'
| ID |
247379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi209
|
| Ensembl Gene |
ENSMUSG00000043263 |
| Gene Name |
interferon activated gene 209 |
| Synonyms |
Ifix, Pyhin-1, Pyhin1 |
| MMRRC Submission |
040331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R2349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173458483-173475494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 173470122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 237
(V237M)
|
| 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: V237M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061900
Gene: ENSMUSG00000043263
AA Change: V237M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200598
|
| Meta Mutation Damage Score |
0.3906 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
| Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
| Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
| Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
| Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
| Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
| Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
| Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
| Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
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 |
|
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'- GCTGAAATTATTACCCACATCTCC -3'
(R):5'- TTTACCTCTGACACACTAGATGC -3'
Sequencing Primer
(F):5'- CCACATCTCCATTTCTTCTAAGAAC -3'
(R):5'- ATTTATGAACCCATTGCAGCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation