Incidental Mutation 'R1069:Ifitm3'
| ID |
86128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifitm3
|
| Ensembl Gene |
ENSMUSG00000025492 |
| Gene Name |
interferon induced transmembrane protein 3 |
| Synonyms |
Fgls, 1110004C05Rik, IP15, mil-1, fragilis |
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140589503-140590657 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 140589813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026565]
|
| AlphaFold |
Q9CQW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026565
|
| SMART Domains |
Protein: ENSMUSP00000026565
Gene: ENSMUSG00000025492
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD225
|
47 |
130 |
7.6e-33 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile with no detectable defects in embryogenesis or germ cell development but show increased susceptibility to respiratory syncytial virus and influenza A virus infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,624,037 (GRCm39) |
N106S |
probably benign |
Het |
| Akr1c21 |
C |
A |
13: 4,625,333 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
| Ccr8 |
A |
G |
9: 119,923,283 (GRCm39) |
I133V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
| Ecd |
A |
G |
14: 20,383,504 (GRCm39) |
C312R |
probably damaging |
Het |
| Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
| Kctd9 |
C |
T |
14: 67,966,869 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
| Lrguk |
A |
C |
6: 34,025,818 (GRCm39) |
I205L |
possibly damaging |
Het |
| Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,338,909 (GRCm39) |
C580R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
|
| Other mutations in Ifitm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02039:Ifitm3
|
APN |
7 |
140,590,563 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02478:Ifitm3
|
APN |
7 |
140,589,787 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02889:Ifitm3
|
APN |
7 |
140,589,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I0000:Ifitm3
|
UTSW |
7 |
140,590,441 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4019:Ifitm3
|
UTSW |
7 |
140,589,772 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4991:Ifitm3
|
UTSW |
7 |
140,590,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Ifitm3
|
UTSW |
7 |
140,590,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5385:Ifitm3
|
UTSW |
7 |
140,590,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5386:Ifitm3
|
UTSW |
7 |
140,590,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5543:Ifitm3
|
UTSW |
7 |
140,589,730 (GRCm39) |
missense |
unknown |
|
|
R7071:Ifitm3
|
UTSW |
7 |
140,590,437 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7602:Ifitm3
|
UTSW |
7 |
140,590,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCAGGACCGGAAGTCGGAATC -3'
(R):5'- CCAATGCAGAGATGCCTATAGCACC -3'
Sequencing Primer
(F):5'- CCGGAAGTCGGAATCCTCTATTAAG -3'
(R):5'- GATTCATGGGGAACAATAGCCTAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation