Incidental Mutation 'R0017:Ifit2'
ID |
8247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifit2
|
Ensembl Gene |
ENSMUSG00000045932 |
Gene Name |
interferon-induced protein with tetratricopeptide repeats 2 |
Synonyms |
Ifi54 |
MMRRC Submission |
038312-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R0017 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
34528094-34553819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34550973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 171
(N171I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102826]
[ENSMUST00000149829]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102826
AA Change: N171I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099890 Gene: ENSMUSG00000045932 AA Change: N171I
Domain | Start | End | E-Value | Type |
Pfam:TPR_2
|
95 |
127 |
4e-4 |
PFAM |
Pfam:TPR_8
|
95 |
127 |
3.8e-4 |
PFAM |
Blast:TPR
|
138 |
171 |
7e-11 |
BLAST |
Blast:TPR
|
172 |
208 |
2e-9 |
BLAST |
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
Pfam:TPR_19
|
225 |
286 |
4e-8 |
PFAM |
low complexity region
|
396 |
406 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149829
|
Meta Mutation Damage Score |
0.3785 |
Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.1%
- 10x: 41.8%
- 20x: 21.2%
|
Validation Efficiency |
93% (76/82) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susuceptibility to VSV infection with increased lethality and brain viral titer. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
Gpld1 |
A |
G |
13: 25,174,101 (GRCm39) |
D842G |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
Reg3b |
T |
A |
6: 78,349,844 (GRCm39) |
M128K |
possibly damaging |
Het |
Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
Scyl3 |
T |
A |
1: 163,767,538 (GRCm39) |
I204N |
possibly damaging |
Het |
Slc45a1 |
C |
A |
4: 150,714,023 (GRCm39) |
D741Y |
possibly damaging |
Het |
Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
Sync |
G |
A |
4: 129,187,537 (GRCm39) |
V190M |
probably damaging |
Het |
Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
Tsn |
T |
C |
1: 118,228,589 (GRCm39) |
D211G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ifit2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01099:Ifit2
|
APN |
19 |
34,550,702 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02261:Ifit2
|
APN |
19 |
34,551,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Ifit2
|
APN |
19 |
34,551,737 (GRCm39) |
missense |
probably benign |
0.01 |
Pushup
|
UTSW |
19 |
34,551,445 (GRCm39) |
missense |
probably benign |
0.38 |
R0017:Ifit2
|
UTSW |
19 |
34,550,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0682:Ifit2
|
UTSW |
19 |
34,551,012 (GRCm39) |
missense |
probably benign |
0.13 |
R0927:Ifit2
|
UTSW |
19 |
34,550,984 (GRCm39) |
missense |
probably benign |
0.03 |
R1462:Ifit2
|
UTSW |
19 |
34,550,586 (GRCm39) |
missense |
probably null |
0.12 |
R1462:Ifit2
|
UTSW |
19 |
34,550,586 (GRCm39) |
missense |
probably null |
0.12 |
R1526:Ifit2
|
UTSW |
19 |
34,550,602 (GRCm39) |
missense |
probably benign |
0.00 |
R2084:Ifit2
|
UTSW |
19 |
34,550,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R3971:Ifit2
|
UTSW |
19 |
34,551,441 (GRCm39) |
missense |
probably benign |
0.00 |
R4008:Ifit2
|
UTSW |
19 |
34,551,445 (GRCm39) |
missense |
probably benign |
0.38 |
R4010:Ifit2
|
UTSW |
19 |
34,551,445 (GRCm39) |
missense |
probably benign |
0.38 |
R4011:Ifit2
|
UTSW |
19 |
34,551,445 (GRCm39) |
missense |
probably benign |
0.38 |
R4359:Ifit2
|
UTSW |
19 |
34,550,544 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5179:Ifit2
|
UTSW |
19 |
34,550,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5240:Ifit2
|
UTSW |
19 |
34,551,796 (GRCm39) |
missense |
probably benign |
0.02 |
R5424:Ifit2
|
UTSW |
19 |
34,551,458 (GRCm39) |
missense |
probably benign |
0.19 |
R5528:Ifit2
|
UTSW |
19 |
34,550,937 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6605:Ifit2
|
UTSW |
19 |
34,550,897 (GRCm39) |
nonsense |
probably null |
|
R7172:Ifit2
|
UTSW |
19 |
34,550,894 (GRCm39) |
missense |
probably benign |
0.24 |
R7424:Ifit2
|
UTSW |
19 |
34,550,598 (GRCm39) |
missense |
probably benign |
0.37 |
R8090:Ifit2
|
UTSW |
19 |
34,550,662 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8356:Ifit2
|
UTSW |
19 |
34,550,908 (GRCm39) |
nonsense |
probably null |
|
R8553:Ifit2
|
UTSW |
19 |
34,550,538 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Ifit2
|
UTSW |
19 |
34,551,650 (GRCm39) |
missense |
possibly damaging |
0.59 |
X0064:Ifit2
|
UTSW |
19 |
34,551,323 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2012-11-21 |