Incidental Mutation 'R3692:Ifi208'
| ID |
268806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi208
|
| Ensembl Gene |
ENSMUSG00000066677 |
| Gene Name |
interferon activated gene 208 |
| Synonyms |
Pydc3, E430029J22Rik, Pyr-rv1 |
| MMRRC Submission |
040687-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3692 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173501241-173525961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173510438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 198
(S198P)
|
| 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: S198P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083039
Gene: ENSMUSG00000066677
AA Change: S198P
| 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: S198P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128958
Gene: ENSMUSG00000066677
AA Change: S198P
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
T |
C |
5: 121,657,385 (GRCm39) |
D636G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,672,719 (GRCm39) |
V2218A |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,240,327 (GRCm39) |
Y752N |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,160,335 (GRCm39) |
D598G |
probably damaging |
Het |
| Calca |
T |
C |
7: 114,233,796 (GRCm39) |
E45G |
probably damaging |
Het |
| Cdk8 |
C |
T |
5: 146,220,478 (GRCm39) |
R166* |
probably null |
Het |
| Chsy1 |
T |
A |
7: 65,821,001 (GRCm39) |
M412K |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,988,338 (GRCm39) |
Y1675* |
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,510,710 (GRCm39) |
D53E |
possibly damaging |
Het |
| Dennd6b |
A |
G |
15: 89,071,030 (GRCm39) |
|
probably benign |
Het |
| Fut10 |
T |
A |
8: 31,726,048 (GRCm39) |
Y268N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,060,846 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,642,076 (GRCm39) |
N697I |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,857 (GRCm39) |
V213A |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,928,998 (GRCm39) |
N959S |
probably damaging |
Het |
| Mat1a |
A |
G |
14: 40,843,338 (GRCm39) |
Y288C |
probably damaging |
Het |
| Mtif2 |
A |
T |
11: 29,490,718 (GRCm39) |
H474L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,744 (GRCm39) |
I1512V |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,280,240 (GRCm39) |
R31W |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,703 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or4a69 |
T |
A |
2: 89,313,240 (GRCm39) |
M80L |
probably benign |
Het |
| Pcdhb16 |
C |
A |
18: 37,611,340 (GRCm39) |
T100K |
probably benign |
Het |
| Pcdhga10 |
T |
C |
18: 37,881,384 (GRCm39) |
C382R |
probably damaging |
Het |
| Pdgfra |
A |
T |
5: 75,349,948 (GRCm39) |
Y944F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,625,353 (GRCm39) |
I741T |
possibly damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,241,760 (GRCm39) |
D845G |
unknown |
Het |
| Rfk |
C |
A |
19: 17,376,834 (GRCm39) |
|
probably null |
Het |
| Rgs11 |
C |
T |
17: 26,423,302 (GRCm39) |
|
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,705 (GRCm39) |
V951A |
probably benign |
Het |
| St3gal5 |
T |
C |
6: 72,126,013 (GRCm39) |
V286A |
probably benign |
Het |
| St7l |
T |
C |
3: 104,798,870 (GRCm39) |
M320T |
probably benign |
Het |
| Tnfrsf1b |
G |
T |
4: 144,954,092 (GRCm39) |
Q86K |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,535 (GRCm39) |
I423V |
probably benign |
Het |
| Tpbpa |
T |
A |
13: 61,087,827 (GRCm39) |
H88L |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,068 (GRCm39) |
Y62C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,970,526 (GRCm39) |
I399M |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,838 (GRCm39) |
D343E |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,863,076 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- TTCAGGAAAGCAAAGATACTATCCC -3'
(R):5'- CTTGAGTCATCTGAGTGGCC -3'
Sequencing Primer
(F):5'- TATCCCTGAATCACCTGATACCATG -3'
(R):5'- AGTCATCTGAGTGGCCTGGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation