Incidental Mutation 'R6559:Ifit3'
ID |
521976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifit3
|
Ensembl Gene |
ENSMUSG00000074896 |
Gene Name |
interferon-induced protein with tetratricopeptide repeats 3 |
Synonyms |
Ifi49 |
MMRRC Submission |
044683-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6559 (G1)
|
Quality Score |
159.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
34560931-34566131 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34564514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 20
(F20S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102825]
|
AlphaFold |
Q64345 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102825
AA Change: F20S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099889 Gene: ENSMUSG00000074896 AA Change: F20S
Domain | Start | End | E-Value | Type |
TPR
|
51 |
84 |
7.69e1 |
SMART |
TPR
|
94 |
127 |
2.84e1 |
SMART |
TPR
|
136 |
169 |
5.69e0 |
SMART |
Blast:TPR
|
170 |
206 |
6e-6 |
BLAST |
low complexity region
|
209 |
218 |
N/A |
INTRINSIC |
TPR
|
241 |
274 |
1.02e1 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
C |
T |
4: 109,363,002 (GRCm39) |
V106I |
possibly damaging |
Het |
Actn4 |
T |
C |
7: 28,606,461 (GRCm39) |
K284R |
possibly damaging |
Het |
Adam20 |
G |
C |
8: 41,249,329 (GRCm39) |
E480Q |
probably benign |
Het |
Cdkl3 |
A |
G |
11: 51,916,696 (GRCm39) |
T275A |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,139,501 (GRCm39) |
I1378T |
possibly damaging |
Het |
Fam186a |
A |
G |
15: 99,842,356 (GRCm39) |
I1296T |
possibly damaging |
Het |
Fbf1 |
G |
A |
11: 116,046,272 (GRCm39) |
T193M |
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,298,560 (GRCm39) |
I352V |
probably benign |
Het |
Klhl3 |
G |
A |
13: 58,164,290 (GRCm39) |
R431W |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,337,982 (GRCm39) |
V464A |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,490,217 (GRCm39) |
I120M |
probably damaging |
Het |
Mst1r |
A |
G |
9: 107,785,470 (GRCm39) |
N376S |
possibly damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,220,841 (GRCm39) |
|
probably null |
Het |
Odad2 |
T |
C |
18: 7,223,664 (GRCm39) |
T460A |
probably damaging |
Het |
Or6c215 |
A |
T |
10: 129,637,533 (GRCm39) |
I287N |
probably damaging |
Het |
Or8c10 |
A |
G |
9: 38,279,052 (GRCm39) |
Y60C |
probably damaging |
Het |
Teddm1a |
A |
T |
1: 153,768,111 (GRCm39) |
I192F |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,882,996 (GRCm39) |
S190P |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,223,208 (GRCm39) |
|
probably null |
Het |
Zfp112 |
C |
T |
7: 23,825,888 (GRCm39) |
Q619* |
probably null |
Het |
Zscan4-ps3 |
A |
G |
7: 11,344,339 (GRCm39) |
E99G |
probably damaging |
Het |
|
Other mutations in Ifit3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1501:Ifit3
|
UTSW |
19 |
34,565,651 (GRCm39) |
missense |
probably benign |
0.13 |
R1521:Ifit3
|
UTSW |
19 |
34,564,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R3084:Ifit3
|
UTSW |
19 |
34,564,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R5017:Ifit3
|
UTSW |
19 |
34,564,592 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5306:Ifit3
|
UTSW |
19 |
34,565,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6194:Ifit3
|
UTSW |
19 |
34,565,027 (GRCm39) |
missense |
probably benign |
0.06 |
R6523:Ifit3
|
UTSW |
19 |
34,565,555 (GRCm39) |
missense |
probably benign |
0.10 |
R7535:Ifit3
|
UTSW |
19 |
34,565,280 (GRCm39) |
missense |
probably damaging |
0.98 |
R7947:Ifit3
|
UTSW |
19 |
34,565,359 (GRCm39) |
nonsense |
probably null |
|
R8049:Ifit3
|
UTSW |
19 |
34,565,480 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8142:Ifit3
|
UTSW |
19 |
34,564,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Ifit3
|
UTSW |
19 |
34,564,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTCATGACTCCGACACCC -3'
(R):5'- GATTGATCATTGTGCTCTGACTTC -3'
Sequencing Primer
(F):5'- TTTGTGGGTGCTCATCAC -3'
(R):5'- CTTAAATCTTCAGCTTGCCCTAAG -3'
|
Posted On |
2018-06-06 |