Incidental Mutation 'R0022:Ifi208'
ID |
64780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi208
|
Ensembl Gene |
ENSMUSG00000066677 |
Gene Name |
interferon activated gene 208 |
Synonyms |
Pydc3, E430029J22Rik, Pyr-rv1 |
MMRRC Submission |
038317-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0022 (G1)
|
Quality Score |
92 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
173501241-173525961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 173510612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 256
(T256A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085876]
[ENSMUST00000169857]
|
AlphaFold |
Q3V3Q4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085876
AA Change: T256A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083039 Gene: ENSMUSG00000066677 AA Change: T256A
Domain | Start | End | E-Value | Type |
PYRIN
|
10 |
88 |
3.23e-20 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
low complexity region
|
488 |
504 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169857
AA Change: T256A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128958 Gene: ENSMUSG00000066677 AA Change: T256A
Domain | Start | End | E-Value | Type |
PYRIN
|
10 |
88 |
3.23e-20 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
Pfam:HERV-K_REC
|
502 |
580 |
3.5e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182880
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
T |
3: 116,587,485 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
G |
A |
3: 121,782,586 (GRCm39) |
V91I |
possibly damaging |
Het |
Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
Bpifb5 |
A |
T |
2: 154,072,268 (GRCm39) |
D325V |
probably damaging |
Het |
Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
Col5a2 |
G |
A |
1: 45,422,843 (GRCm39) |
R1125* |
probably null |
Het |
Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,903,092 (GRCm39) |
V2049E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,382 (GRCm39) |
I4V |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,507,675 (GRCm39) |
T138A |
probably damaging |
Het |
Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,607,420 (GRCm39) |
S14P |
probably benign |
Het |
Elavl3 |
C |
A |
9: 21,948,167 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
Exoc7 |
A |
T |
11: 116,188,408 (GRCm39) |
I297N |
possibly damaging |
Het |
Gdpd4 |
A |
T |
7: 97,632,082 (GRCm39) |
N332Y |
probably damaging |
Het |
Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,375,716 (GRCm39) |
Y74F |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
Mcm7 |
T |
C |
5: 138,162,981 (GRCm39) |
*390W |
probably null |
Het |
Myo18a |
T |
C |
11: 77,734,059 (GRCm39) |
|
probably null |
Het |
Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
Nlrp1a |
T |
G |
11: 71,014,207 (GRCm39) |
T348P |
probably damaging |
Het |
Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
Or4f53 |
A |
G |
2: 111,087,994 (GRCm39) |
Y178C |
probably benign |
Het |
Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
Pdzd2 |
G |
A |
15: 12,371,691 (GRCm39) |
A2568V |
possibly damaging |
Het |
Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
Plekhb2 |
G |
A |
1: 34,905,320 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,047,479 (GRCm39) |
|
probably null |
Het |
Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
Pnldc1 |
A |
G |
17: 13,109,006 (GRCm39) |
Y497H |
probably damaging |
Het |
Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
Relch |
T |
A |
1: 105,619,627 (GRCm39) |
|
probably benign |
Het |
Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
Strc |
A |
G |
2: 121,198,874 (GRCm39) |
L1391P |
probably damaging |
Het |
Tek |
G |
A |
4: 94,725,509 (GRCm39) |
V592M |
probably damaging |
Het |
Top1 |
A |
C |
2: 160,544,719 (GRCm39) |
K278N |
possibly damaging |
Het |
Utrn |
C |
T |
10: 12,585,700 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,910,705 (GRCm39) |
I699T |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,491,860 (GRCm39) |
E119G |
possibly damaging |
Het |
|
Other mutations in Ifi208 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Ifi208
|
APN |
1 |
173,506,604 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00725:Ifi208
|
APN |
1 |
173,510,427 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01952:Ifi208
|
APN |
1 |
173,506,597 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02024:Ifi208
|
APN |
1 |
173,510,856 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02637:Ifi208
|
APN |
1 |
173,506,508 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02829:Ifi208
|
APN |
1 |
173,510,406 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03216:Ifi208
|
APN |
1 |
173,506,507 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03398:Ifi208
|
APN |
1 |
173,510,817 (GRCm39) |
missense |
probably damaging |
0.96 |
FR4304:Ifi208
|
UTSW |
1 |
173,505,264 (GRCm39) |
small deletion |
probably benign |
|
FR4340:Ifi208
|
UTSW |
1 |
173,505,264 (GRCm39) |
small deletion |
probably benign |
|
FR4342:Ifi208
|
UTSW |
1 |
173,505,264 (GRCm39) |
small deletion |
probably benign |
|
R0468:Ifi208
|
UTSW |
1 |
173,511,047 (GRCm39) |
missense |
probably benign |
0.08 |
R0734:Ifi208
|
UTSW |
1 |
173,510,901 (GRCm39) |
missense |
probably damaging |
0.98 |
R0780:Ifi208
|
UTSW |
1 |
173,510,262 (GRCm39) |
missense |
probably benign |
0.06 |
R1070:Ifi208
|
UTSW |
1 |
173,510,610 (GRCm39) |
missense |
probably damaging |
0.99 |
R1339:Ifi208
|
UTSW |
1 |
173,510,804 (GRCm39) |
missense |
probably damaging |
0.99 |
R1473:Ifi208
|
UTSW |
1 |
173,523,220 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1755:Ifi208
|
UTSW |
1 |
173,505,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3012:Ifi208
|
UTSW |
1 |
173,523,136 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3692:Ifi208
|
UTSW |
1 |
173,510,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4175:Ifi208
|
UTSW |
1 |
173,510,267 (GRCm39) |
missense |
probably benign |
0.01 |
R4235:Ifi208
|
UTSW |
1 |
173,510,477 (GRCm39) |
missense |
probably benign |
0.06 |
R4749:Ifi208
|
UTSW |
1 |
173,523,180 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4815:Ifi208
|
UTSW |
1 |
173,510,403 (GRCm39) |
missense |
probably damaging |
0.96 |
R5116:Ifi208
|
UTSW |
1 |
173,505,549 (GRCm39) |
intron |
probably benign |
|
R5138:Ifi208
|
UTSW |
1 |
173,518,239 (GRCm39) |
missense |
probably null |
0.29 |
R5210:Ifi208
|
UTSW |
1 |
173,510,831 (GRCm39) |
missense |
probably benign |
|
R5304:Ifi208
|
UTSW |
1 |
173,511,174 (GRCm39) |
missense |
probably benign |
|
R6126:Ifi208
|
UTSW |
1 |
173,505,274 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6558:Ifi208
|
UTSW |
1 |
173,510,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R6915:Ifi208
|
UTSW |
1 |
173,510,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R7513:Ifi208
|
UTSW |
1 |
173,523,220 (GRCm39) |
nonsense |
probably null |
|
R7972:Ifi208
|
UTSW |
1 |
173,506,556 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8143:Ifi208
|
UTSW |
1 |
173,510,242 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8383:Ifi208
|
UTSW |
1 |
173,511,075 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8431:Ifi208
|
UTSW |
1 |
173,510,844 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8794:Ifi208
|
UTSW |
1 |
173,523,370 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8823:Ifi208
|
UTSW |
1 |
173,511,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R8849:Ifi208
|
UTSW |
1 |
173,506,184 (GRCm39) |
intron |
probably benign |
|
R9127:Ifi208
|
UTSW |
1 |
173,523,400 (GRCm39) |
missense |
probably benign |
0.02 |
R9225:Ifi208
|
UTSW |
1 |
173,518,294 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9336:Ifi208
|
UTSW |
1 |
173,510,394 (GRCm39) |
missense |
probably damaging |
0.99 |
R9487:Ifi208
|
UTSW |
1 |
173,510,961 (GRCm39) |
missense |
probably damaging |
0.99 |
RF027:Ifi208
|
UTSW |
1 |
173,505,262 (GRCm39) |
small deletion |
probably benign |
|
RF029:Ifi208
|
UTSW |
1 |
173,505,262 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCACCTGTGACAAATCTTCTCGG -3'
(R):5'- AAGGGCTGGATACTGTTGCTGC -3'
Sequencing Primer
(F):5'- GGTGCCTCCAGTGACAGTC -3'
(R):5'- TTGCAAGATCTGGACACTGC -3'
|
Posted On |
2013-08-06 |