Incidental Mutation 'R0880:Ifi209'
ID |
80449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi209
|
Ensembl Gene |
ENSMUSG00000043263 |
Gene Name |
interferon activated gene 209 |
Synonyms |
Ifix, Pyhin-1, Pyhin1 |
MMRRC Submission |
039047-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R0880 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
173458483-173475494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 173472379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 407
(S407T)
|
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: S407T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000061900 Gene: ENSMUSG00000043263 AA Change: S407T
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,537,609 (GRCm39) |
Y701H |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 53,186,291 (GRCm39) |
D1235G |
possibly damaging |
Het |
Arhgef18 |
A |
G |
8: 3,439,032 (GRCm39) |
|
probably benign |
Het |
Astn2 |
A |
G |
4: 65,566,567 (GRCm39) |
Y812H |
probably damaging |
Het |
Bmpr1b |
G |
T |
3: 141,576,557 (GRCm39) |
S92* |
probably null |
Het |
Camsap2 |
T |
C |
1: 136,208,708 (GRCm39) |
D934G |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,242,200 (GRCm39) |
V1076A |
possibly damaging |
Het |
Cdhr1 |
T |
C |
14: 36,802,591 (GRCm39) |
D624G |
possibly damaging |
Het |
Cfap57 |
A |
T |
4: 118,439,035 (GRCm39) |
Y830* |
probably null |
Het |
Eml3 |
A |
G |
19: 8,918,279 (GRCm39) |
D790G |
possibly damaging |
Het |
Ess2 |
A |
G |
16: 17,729,051 (GRCm39) |
V40A |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,686,830 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
C |
2: 180,877,928 (GRCm39) |
S957A |
probably benign |
Het |
Iftap |
T |
A |
2: 101,406,455 (GRCm39) |
T158S |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,217,270 (GRCm39) |
T2403A |
possibly damaging |
Het |
Nfe2 |
T |
C |
15: 103,157,689 (GRCm39) |
N101D |
probably damaging |
Het |
Nsf |
A |
T |
11: 103,804,198 (GRCm39) |
V178D |
possibly damaging |
Het |
P4ha3 |
A |
G |
7: 99,955,116 (GRCm39) |
T324A |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,163,432 (GRCm39) |
|
probably null |
Het |
Samd9l |
G |
A |
6: 3,377,064 (GRCm39) |
L66F |
probably damaging |
Het |
Speg |
T |
C |
1: 75,381,705 (GRCm39) |
F1024S |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,452,869 (GRCm39) |
N2859S |
possibly damaging |
Het |
Tnfrsf21 |
G |
A |
17: 43,348,733 (GRCm39) |
W115* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTACCTCGTATCTCAACCTATAGCTC -3'
(R):5'- GATCTGTGTGTCAGGGTGACAAGAAAA -3'
Sequencing Primer
(F):5'- GCCATTTCTCATGGAATGAGC -3'
(R):5'- gcctccaactcatacatatcaac -3'
|
Posted On |
2013-11-07 |