Incidental Mutation 'IGL02712:Ifi209'
ID |
304598 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ifi209
|
Ensembl Gene |
ENSMUSG00000043263 |
Gene Name |
interferon activated gene 209 |
Synonyms |
Ifix, Pyhin-1, Pyhin1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
IGL02712
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
173458483-173475494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 173470267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 285
(V285A)
|
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: V285A
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000061900 Gene: ENSMUSG00000043263 AA Change: V285A
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angel1 |
A |
G |
12: 86,769,613 (GRCm39) |
|
probably benign |
Het |
Arhgef33 |
T |
A |
17: 80,667,802 (GRCm39) |
V289D |
probably damaging |
Het |
Cabp5 |
A |
G |
7: 13,137,271 (GRCm39) |
M93V |
probably damaging |
Het |
Ces1a |
A |
C |
8: 93,762,668 (GRCm39) |
V201G |
probably damaging |
Het |
Cisd1 |
A |
G |
10: 71,172,181 (GRCm39) |
F34L |
probably benign |
Het |
Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
Ddx39a |
A |
G |
8: 84,448,386 (GRCm39) |
I213V |
probably benign |
Het |
Ddx59 |
A |
T |
1: 136,367,519 (GRCm39) |
N542I |
probably benign |
Het |
Dytn |
T |
C |
1: 63,703,581 (GRCm39) |
T233A |
probably benign |
Het |
Fbxo7 |
A |
G |
10: 85,860,302 (GRCm39) |
T49A |
possibly damaging |
Het |
Fmnl2 |
C |
A |
2: 52,926,510 (GRCm39) |
|
probably benign |
Het |
Golga2 |
G |
T |
2: 32,194,225 (GRCm39) |
K610N |
probably damaging |
Het |
Hipk4 |
T |
C |
7: 27,228,060 (GRCm39) |
Y269H |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Map3k13 |
T |
G |
16: 21,724,005 (GRCm39) |
V329G |
probably damaging |
Het |
Mrm3 |
T |
C |
11: 76,134,683 (GRCm39) |
W29R |
possibly damaging |
Het |
Nherf1 |
T |
C |
11: 115,068,060 (GRCm39) |
V200A |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,156,820 (GRCm39) |
I213V |
possibly damaging |
Het |
Nphp4 |
C |
T |
4: 152,640,732 (GRCm39) |
T1033M |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,868,266 (GRCm39) |
|
probably null |
Het |
Nrcam |
A |
G |
12: 44,620,610 (GRCm39) |
Y885C |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,262,107 (GRCm39) |
|
probably null |
Het |
Or1e17 |
T |
C |
11: 73,831,756 (GRCm39) |
V228A |
probably benign |
Het |
Or8b57 |
T |
C |
9: 40,004,082 (GRCm39) |
H60R |
probably damaging |
Het |
Ovgp1 |
T |
A |
3: 105,893,829 (GRCm39) |
|
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,376,113 (GRCm39) |
S1341G |
probably benign |
Het |
Pld2 |
T |
G |
11: 70,447,905 (GRCm39) |
L856R |
probably benign |
Het |
Plod1 |
A |
G |
4: 148,003,344 (GRCm39) |
F494L |
possibly damaging |
Het |
Pnkd |
T |
A |
1: 74,389,027 (GRCm39) |
S233T |
possibly damaging |
Het |
Rnf144b |
T |
C |
13: 47,393,255 (GRCm39) |
I198T |
probably damaging |
Het |
Rsc1a1 |
G |
T |
4: 141,412,376 (GRCm39) |
Q179K |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,598,632 (GRCm39) |
W249* |
probably null |
Het |
Spata32 |
T |
G |
11: 103,098,973 (GRCm39) |
|
probably benign |
Het |
Stk4 |
T |
A |
2: 163,938,817 (GRCm39) |
H228Q |
probably damaging |
Het |
Szt2 |
T |
A |
4: 118,242,030 (GRCm39) |
Q1592L |
probably benign |
Het |
Tnc |
T |
A |
4: 63,893,493 (GRCm39) |
I1598F |
probably damaging |
Het |
Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
Ttll6 |
T |
G |
11: 96,030,601 (GRCm39) |
|
probably benign |
Het |
Vmn2r118 |
A |
G |
17: 55,899,655 (GRCm39) |
S750P |
probably benign |
Het |
Zswim5 |
C |
T |
4: 116,842,892 (GRCm39) |
T879I |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |