Incidental Mutation 'R3805:Ifit1'
| ID |
274572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifit1
|
| Ensembl Gene |
ENSMUSG00000034459 |
| Gene Name |
interferon-induced protein with tetratricopeptide repeats 1 |
| Synonyms |
Ifi56, ISG56 |
| MMRRC Submission |
040762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3805 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34618289-34627409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34625556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 231
(I231V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102824]
|
| AlphaFold |
Q64282 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102824
AA Change: I231V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099888
Gene: ENSMUSG00000034459
AA Change: I231V
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
52 |
85 |
4.8e1 |
SMART |
|
TPR
|
92 |
125 |
6.92e1 |
SMART |
|
TPR
|
138 |
171 |
1.2e1 |
SMART |
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
234 |
N/A |
INTRINSIC |
|
TPR
|
242 |
275 |
4.93e1 |
SMART |
|
TPR
|
329 |
362 |
3.89e1 |
SMART |
|
TPR
|
426 |
459 |
1.45e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.1940 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered response to vesicular stomatitis virus (VSV) infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
| Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
| Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
| Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
| Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
| Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
| Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
| Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
| Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
| Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
| Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
| Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
Het |
|
| Other mutations in Ifit1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Ifit1
|
APN |
19 |
34,625,533 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01484:Ifit1
|
APN |
19 |
34,626,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01505:Ifit1
|
APN |
19 |
34,625,854 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02663:Ifit1
|
APN |
19 |
34,618,380 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03063:Ifit1
|
APN |
19 |
34,625,404 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0655:Ifit1
|
UTSW |
19 |
34,625,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Ifit1
|
UTSW |
19 |
34,625,032 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1859:Ifit1
|
UTSW |
19 |
34,624,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4514:Ifit1
|
UTSW |
19 |
34,625,913 (GRCm39) |
nonsense |
probably null |
|
|
R4714:Ifit1
|
UTSW |
19 |
34,625,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5310:Ifit1
|
UTSW |
19 |
34,626,204 (GRCm39) |
missense |
probably benign |
|
|
R5620:Ifit1
|
UTSW |
19 |
34,625,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5787:Ifit1
|
UTSW |
19 |
34,624,975 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5964:Ifit1
|
UTSW |
19 |
34,625,869 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8230:Ifit1
|
UTSW |
19 |
34,625,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8249:Ifit1
|
UTSW |
19 |
34,618,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8713:Ifit1
|
UTSW |
19 |
34,625,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9054:Ifit1
|
UTSW |
19 |
34,625,887 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9227:Ifit1
|
UTSW |
19 |
34,625,236 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9230:Ifit1
|
UTSW |
19 |
34,625,236 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9723:Ifit1
|
UTSW |
19 |
34,626,257 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAACACTGGCTATGCAGTCG -3'
(R):5'- ACATTGTCCTGCCTTCTGGG -3'
Sequencing Primer
(F):5'- GTCGTAGCCTATCGCCAAGATTTAG -3'
(R):5'- CCTGTTTCGGGATGTCCTCAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation