Incidental Mutation 'R0682:Ifit2'
| ID |
61033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifit2
|
| Ensembl Gene |
ENSMUSG00000045932 |
| Gene Name |
interferon-induced protein with tetratricopeptide repeats 2 |
| Synonyms |
Ifi54 |
| MMRRC Submission |
038867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0682 (G1)
|
| Quality Score |
117 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34528094-34553819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34551012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 184
(R184H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102826]
[ENSMUST00000149829]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102826
AA Change: R184H
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099890
Gene: ENSMUSG00000045932
AA Change: R184H
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
| Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
| Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
| Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
| Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
| Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
| Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
| Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
| Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
| Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
| Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTCCAGCCCCTACAGGATTGAG -3'
(R):5'- GCACATAGGCGTTGTTTGGCAG -3'
Sequencing Primer
(F):5'- AGGATTGAGAATCCTGCTCTTGAC -3'
(R):5'- TAAAACCTGGCTGCCCTGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation