Incidental Mutation 'R5528:Ifit2'
| ID |
433556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifit2
|
| Ensembl Gene |
ENSMUSG00000045932 |
| Gene Name |
interferon-induced protein with tetratricopeptide repeats 2 |
| Synonyms |
Ifi54 |
| MMRRC Submission |
043086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34528094-34553819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34550937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 159
(V159E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102826]
[ENSMUST00000149829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102826
AA Change: V159E
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099890
Gene: ENSMUSG00000045932
AA Change: V159E
| 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
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,772,260 (GRCm39) |
L483P |
probably benign |
Het |
| 4930519G04Rik |
T |
G |
5: 115,012,415 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 36,013,510 (GRCm39) |
Q148* |
probably null |
Het |
| Ap3s2 |
A |
T |
7: 79,530,234 (GRCm39) |
*194R |
probably null |
Het |
| Arpp21 |
C |
T |
9: 111,978,421 (GRCm39) |
A235T |
probably benign |
Het |
| C9orf72 |
T |
C |
4: 35,213,556 (GRCm39) |
D198G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,936,078 (GRCm39) |
D939G |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,320,610 (GRCm39) |
I734N |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,277,275 (GRCm39) |
N455K |
probably benign |
Het |
| Cpne8 |
C |
T |
15: 90,503,893 (GRCm39) |
V91I |
possibly damaging |
Het |
| Cstdc7 |
A |
G |
18: 42,306,727 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,279,295 (GRCm39) |
V448A |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Eeig1 |
G |
A |
2: 32,456,339 (GRCm39) |
A334T |
probably damaging |
Het |
| Eif2a |
G |
T |
3: 58,455,933 (GRCm39) |
D311Y |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,258,419 (GRCm39) |
E512K |
probably damaging |
Het |
| Esp15 |
A |
T |
17: 39,955,640 (GRCm39) |
Y69F |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,016,380 (GRCm39) |
Y203N |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,321 (GRCm39) |
Q248R |
probably damaging |
Het |
| Il17rd |
T |
C |
14: 26,810,024 (GRCm39) |
V20A |
possibly damaging |
Het |
| Kcnq3 |
T |
A |
15: 65,897,027 (GRCm39) |
D291V |
probably damaging |
Het |
| Klf11 |
A |
T |
12: 24,704,929 (GRCm39) |
M111L |
probably benign |
Het |
| Lama5 |
T |
A |
2: 179,836,356 (GRCm39) |
H1165L |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,139,522 (GRCm39) |
N702S |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,307,736 (GRCm39) |
V323A |
probably damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,068,735 (GRCm39) |
E352G |
possibly damaging |
Het |
| Ms4a19 |
T |
C |
19: 11,118,999 (GRCm39) |
S37G |
possibly damaging |
Het |
| Mtf2 |
T |
A |
5: 108,242,023 (GRCm39) |
L277Q |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,775,918 (GRCm39) |
N370D |
probably benign |
Het |
| Nlrp4e |
A |
C |
7: 23,036,316 (GRCm39) |
K723T |
probably benign |
Het |
| Nsun3 |
A |
G |
16: 62,555,689 (GRCm39) |
V279A |
possibly damaging |
Het |
| Pde6b |
A |
G |
5: 108,571,424 (GRCm39) |
D459G |
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,655 (GRCm39) |
I121V |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,386,803 (GRCm39) |
C811R |
probably damaging |
Het |
| Spaca6 |
A |
C |
17: 18,051,344 (GRCm39) |
I27L |
probably benign |
Het |
| Trmt1l |
G |
A |
1: 151,330,746 (GRCm39) |
V588I |
probably benign |
Het |
| Tshr |
A |
G |
12: 91,503,967 (GRCm39) |
N302D |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,961 (GRCm39) |
D279G |
probably damaging |
Het |
| Wnt3a |
T |
C |
11: 59,166,106 (GRCm39) |
N58S |
probably damaging |
Het |
| Zkscan8 |
A |
G |
13: 21,704,895 (GRCm39) |
V276A |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATCAGAAGTCTGGTCACC -3'
(R):5'- TACCGCGTCAAGCTTCAGTG -3'
Sequencing Primer
(F):5'- CACCTGGGGAAACTATGCTTG -3'
(R):5'- GCTTCAGTGCCAAGAGGACTTTAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation