Incidental Mutation 'R8431:Ifi208'
ID |
653731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi208
|
Ensembl Gene |
ENSMUSG00000066677 |
Gene Name |
interferon activated gene 208 |
Synonyms |
Pydc3, E430029J22Rik, Pyr-rv1 |
MMRRC Submission |
067776-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8431 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
173501241-173525961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 173510844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 333
(V333A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085876]
[ENSMUST00000169857]
|
AlphaFold |
Q3V3Q4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085876
AA Change: V333A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000083039 Gene: ENSMUSG00000066677 AA Change: V333A
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: V333A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128958 Gene: ENSMUSG00000066677 AA Change: V333A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
A |
G |
8: 124,694,873 (GRCm39) |
F273S |
|
Het |
Abhd14b |
G |
T |
9: 106,328,612 (GRCm39) |
A78S |
probably benign |
Het |
Adamtsl5 |
G |
A |
10: 80,181,228 (GRCm39) |
P51L |
probably benign |
Het |
Adap1 |
A |
C |
5: 139,259,180 (GRCm39) |
F336V |
probably benign |
Het |
Ankrd33b |
T |
C |
15: 31,305,248 (GRCm39) |
N172S |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,040,464 (GRCm39) |
E560G |
possibly damaging |
Het |
Ascc2 |
A |
T |
11: 4,614,227 (GRCm39) |
|
probably null |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Card6 |
A |
T |
15: 5,129,758 (GRCm39) |
F546Y |
probably damaging |
Het |
Cby3 |
T |
G |
11: 50,250,084 (GRCm39) |
S2A |
probably damaging |
Het |
Cct3 |
T |
C |
3: 88,225,831 (GRCm39) |
S385P |
possibly damaging |
Het |
Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
Cpne3 |
C |
A |
4: 19,526,316 (GRCm39) |
A408S |
probably damaging |
Het |
Ctsr |
A |
C |
13: 61,308,304 (GRCm39) |
L280R |
probably damaging |
Het |
D930048N14Rik |
GGG |
GGGG |
11: 51,541,946 (GRCm39) |
|
probably null |
Het |
Dlg4 |
A |
G |
11: 69,930,388 (GRCm39) |
I388V |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,633 (GRCm39) |
I94F |
probably benign |
Het |
Eftud2 |
C |
A |
11: 102,737,062 (GRCm39) |
A573S |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,811,910 (GRCm39) |
P2743Q |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
Ier5 |
C |
A |
1: 154,974,306 (GRCm39) |
D291Y |
probably benign |
Het |
Ifi207 |
T |
C |
1: 173,558,070 (GRCm39) |
I223V |
unknown |
Het |
Kank4 |
T |
C |
4: 98,667,509 (GRCm39) |
I313V |
probably benign |
Het |
Klhl7 |
T |
C |
5: 24,343,473 (GRCm39) |
V263A |
possibly damaging |
Het |
Klrg2 |
T |
C |
6: 38,605,122 (GRCm39) |
D314G |
probably benign |
Het |
Lrr1 |
T |
C |
12: 69,225,470 (GRCm39) |
M382T |
possibly damaging |
Het |
Ly6e |
A |
T |
15: 74,830,190 (GRCm39) |
Q48L |
probably benign |
Het |
Marchf6 |
C |
T |
15: 31,505,892 (GRCm39) |
W43* |
probably null |
Het |
Mepe |
A |
G |
5: 104,486,047 (GRCm39) |
T396A |
possibly damaging |
Het |
Myh8 |
T |
G |
11: 67,174,440 (GRCm39) |
L229R |
possibly damaging |
Het |
Ndufa10 |
C |
G |
1: 92,379,732 (GRCm39) |
|
probably null |
Het |
Nek1 |
C |
A |
8: 61,487,066 (GRCm39) |
A272E |
possibly damaging |
Het |
Nr1h2 |
T |
C |
7: 44,199,767 (GRCm39) |
Y384C |
probably damaging |
Het |
Or4c118 |
C |
A |
2: 88,974,723 (GRCm39) |
V215F |
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
Phf2 |
A |
G |
13: 48,975,078 (GRCm39) |
F294S |
unknown |
Het |
Polr3e |
A |
T |
7: 120,530,528 (GRCm39) |
I173F |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,671,952 (GRCm39) |
R464* |
probably null |
Het |
Ppp1r9a |
T |
A |
6: 5,115,456 (GRCm39) |
S860T |
probably benign |
Het |
Rnf144a |
T |
C |
12: 26,377,300 (GRCm39) |
Y93C |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,673,894 (GRCm39) |
E3390G |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,534,164 (GRCm39) |
T504A |
possibly damaging |
Het |
Slc26a5 |
T |
G |
5: 22,018,904 (GRCm39) |
D645A |
probably damaging |
Het |
Sp140l2 |
G |
A |
1: 85,235,170 (GRCm39) |
H130Y |
probably benign |
Het |
Ston2 |
T |
A |
12: 91,615,071 (GRCm39) |
I446F |
probably damaging |
Het |
Tcp11l1 |
G |
A |
2: 104,530,314 (GRCm39) |
P57S |
probably damaging |
Het |
Th |
G |
T |
7: 142,446,801 (GRCm39) |
H488Q |
probably benign |
Het |
Tmprss4 |
A |
T |
9: 45,095,661 (GRCm39) |
I61N |
probably benign |
Het |
Wdtc1 |
A |
G |
4: 133,049,481 (GRCm39) |
|
probably null |
Het |
Xpnpep1 |
T |
C |
19: 52,983,937 (GRCm39) |
N596S |
probably benign |
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 |
|
R0022:Ifi208
|
UTSW |
1 |
173,510,612 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
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'- TCATAATTGTCCTCAGGTGCC -3'
(R):5'- CTGCTGGGTAGAGTTGCAAG -3'
Sequencing Primer
(F):5'- TCCTCAGGTGCCTGCATCAG -3'
(R):5'- AGAGTTGCAAGGTCTGGGC -3'
|
Posted On |
2020-10-20 |