Incidental Mutation 'R5116:Ifi208'
ID |
394173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi208
|
Ensembl Gene |
ENSMUSG00000066677 |
Gene Name |
interferon activated gene 208 |
Synonyms |
Pydc3, E430029J22Rik, Pyr-rv1 |
MMRRC Submission |
042704-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5116 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
173501241-173525961 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 173505549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085876]
[ENSMUST00000169857]
|
AlphaFold |
Q3V3Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085876
|
SMART Domains |
Protein: ENSMUSP00000083039 Gene: ENSMUSG00000066677
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 |
probably benign
Transcript: ENSMUST00000169857
|
SMART Domains |
Protein: ENSMUSP00000128958 Gene: ENSMUSG00000066677
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.5%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,216,930 (GRCm39) |
H429R |
probably damaging |
Het |
Adam39 |
G |
T |
8: 41,278,038 (GRCm39) |
C143F |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,036,066 (GRCm39) |
V417A |
possibly damaging |
Het |
Adcy10 |
C |
A |
1: 165,347,069 (GRCm39) |
A362E |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,188,298 (GRCm39) |
E1904G |
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,541,949 (GRCm39) |
M89T |
probably benign |
Het |
Alyref |
G |
T |
11: 120,488,554 (GRCm39) |
F91L |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,315,773 (GRCm39) |
M248I |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,953,991 (GRCm39) |
I56N |
probably damaging |
Het |
Cckbr |
T |
A |
7: 105,082,862 (GRCm39) |
I75N |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,923,095 (GRCm39) |
I70T |
probably benign |
Het |
Cdh24 |
T |
C |
14: 54,873,870 (GRCm39) |
D428G |
probably benign |
Het |
Cdk5rap2 |
G |
T |
4: 70,225,475 (GRCm39) |
Q557K |
possibly damaging |
Het |
Clip1 |
C |
T |
5: 123,768,770 (GRCm39) |
A610T |
probably benign |
Het |
Dnajc16 |
A |
T |
4: 141,495,280 (GRCm39) |
Y479* |
probably null |
Het |
Fpr-rs3 |
A |
G |
17: 20,844,562 (GRCm39) |
V193A |
probably benign |
Het |
Gm29125 |
T |
C |
1: 80,361,690 (GRCm39) |
|
noncoding transcript |
Het |
H1f4 |
A |
G |
13: 23,806,270 (GRCm39) |
Y71H |
probably damaging |
Het |
Immp1l |
G |
A |
2: 105,795,640 (GRCm39) |
R155H |
probably benign |
Het |
Itgad |
C |
A |
7: 127,803,065 (GRCm39) |
T7K |
probably damaging |
Het |
Itgb3 |
T |
C |
11: 104,531,903 (GRCm39) |
V370A |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,012,310 (GRCm39) |
I1053T |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,521 (GRCm39) |
R572G |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,994,556 (GRCm39) |
D1784E |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,856,511 (GRCm39) |
V651D |
probably damaging |
Het |
Mrpl47 |
A |
G |
3: 32,787,750 (GRCm39) |
L100S |
probably damaging |
Het |
Mx1 |
T |
G |
16: 97,258,679 (GRCm39) |
N6T |
possibly damaging |
Het |
Nde1 |
T |
A |
16: 14,001,351 (GRCm39) |
M133K |
probably benign |
Het |
Nlrc5 |
T |
C |
8: 95,208,488 (GRCm39) |
L778P |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,901,424 (GRCm39) |
*595Q |
probably null |
Het |
Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
Or5l13 |
G |
A |
2: 87,779,873 (GRCm39) |
R235C |
probably benign |
Het |
Or6c3b |
A |
G |
10: 129,527,266 (GRCm39) |
S215P |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,094 (GRCm39) |
S151P |
possibly damaging |
Het |
Or8b38 |
T |
C |
9: 37,972,634 (GRCm39) |
V6A |
probably benign |
Het |
Otog |
T |
C |
7: 45,923,191 (GRCm39) |
V1022A |
probably benign |
Het |
Pcdhac1 |
G |
A |
18: 37,224,500 (GRCm39) |
V438M |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,440,798 (GRCm39) |
S1264F |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,881,816 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
A |
1: 130,776,768 (GRCm39) |
F648I |
probably benign |
Het |
Pla2r1 |
A |
C |
2: 60,279,250 (GRCm39) |
Y777D |
probably damaging |
Het |
Pnpla7 |
G |
T |
2: 24,911,982 (GRCm39) |
G716V |
probably damaging |
Het |
Rab11fip5 |
C |
T |
6: 85,325,789 (GRCm39) |
E206K |
probably damaging |
Het |
S100a10 |
A |
G |
3: 93,468,247 (GRCm39) |
|
probably null |
Het |
Slc35f1 |
T |
C |
10: 52,897,991 (GRCm39) |
I134T |
probably benign |
Het |
Smarcd1 |
C |
T |
15: 99,600,369 (GRCm39) |
A56V |
probably benign |
Het |
Snrk |
A |
G |
9: 121,989,396 (GRCm39) |
T247A |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,628,284 (GRCm39) |
L896P |
possibly damaging |
Het |
Tmem19 |
A |
T |
10: 115,179,651 (GRCm39) |
F167I |
probably benign |
Het |
Tmprss11f |
T |
C |
5: 86,687,555 (GRCm39) |
S118G |
probably benign |
Het |
Tnc |
A |
G |
4: 63,885,452 (GRCm39) |
|
probably null |
Het |
Trem3 |
T |
C |
17: 48,556,580 (GRCm39) |
L17P |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,661,554 (GRCm39) |
Y67C |
probably damaging |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
Zfp932 |
T |
A |
5: 110,157,242 (GRCm39) |
D280E |
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 |
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'- AGTCCTTACTGAACCATGACC -3'
(R):5'- AGCTACTGTTTCTCCAAGTAGC -3'
Sequencing Primer
(F):5'- CTTACTGAACCATGACCTAAAACTG -3'
(R):5'- GTTTCTCCAAGTAGCTTCTGTG -3'
|
Posted On |
2016-06-15 |