Incidental Mutation 'IGL00931:Ifitm1'
| ID |
27828 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifitm1
|
| Ensembl Gene |
ENSMUSG00000025491 |
| Gene Name |
interferon induced transmembrane protein 1 |
| Synonyms |
1110036C17Rik, fragilis2, Mil2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140547342-140549740 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 140548169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026564]
[ENSMUST00000106040]
[ENSMUST00000106042]
|
| AlphaFold |
Q9D103 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026564
AA Change: M1L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026564
Gene: ENSMUSG00000025491
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dispanin
|
18 |
101 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106040
AA Change: M1L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101655
Gene: ENSMUSG00000025491
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dispanin
|
18 |
101 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106042
AA Change: M1L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101657
Gene: ENSMUSG00000025491
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD225
|
24 |
101 |
2.9e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibited enhanced motor coordination during inverted screen testing when compared with that of their wild-type littermates. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a2 |
G |
A |
9: 71,123,251 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,167,225 (GRCm39) |
M1101V |
probably benign |
Het |
| Cyp4a12a |
G |
A |
4: 115,159,153 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Ddx60 |
C |
T |
8: 62,422,617 (GRCm39) |
S618L |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,528,170 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,755,860 (GRCm39) |
|
probably null |
Het |
| Fads2 |
A |
T |
19: 10,043,649 (GRCm39) |
D348E |
probably benign |
Het |
| Gpcpd1 |
G |
T |
2: 132,380,038 (GRCm39) |
F434L |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,286 (GRCm39) |
N34D |
possibly damaging |
Het |
| Lama2 |
G |
A |
10: 26,882,772 (GRCm39) |
S605L |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,472,212 (GRCm39) |
D1261G |
probably damaging |
Het |
| Ndufs3 |
A |
G |
2: 90,732,846 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
T |
C |
18: 65,305,470 (GRCm39) |
I297T |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,506,342 (GRCm39) |
V586A |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,586,457 (GRCm39) |
W354R |
probably damaging |
Het |
| Slc35c1 |
T |
C |
2: 92,289,239 (GRCm39) |
D89G |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,574,162 (GRCm39) |
T17A |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,398,854 (GRCm39) |
M500L |
probably benign |
Het |
|
| Other mutations in Ifitm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Ifitm1
|
APN |
7 |
140,549,537 (GRCm39) |
makesense |
probably null |
|
|
IGL02048:Ifitm1
|
APN |
7 |
140,548,205 (GRCm39) |
missense |
probably benign |
|
|
IGL02822:Ifitm1
|
APN |
7 |
140,548,191 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0332:Ifitm1
|
UTSW |
7 |
140,548,366 (GRCm39) |
splice site |
probably benign |
|
|
R0445:Ifitm1
|
UTSW |
7 |
140,548,354 (GRCm39) |
splice site |
probably null |
|
|
R0595:Ifitm1
|
UTSW |
7 |
140,548,242 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0655:Ifitm1
|
UTSW |
7 |
140,549,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1344:Ifitm1
|
UTSW |
7 |
140,548,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2092:Ifitm1
|
UTSW |
7 |
140,549,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2411:Ifitm1
|
UTSW |
7 |
140,549,711 (GRCm39) |
splice site |
probably null |
|
|
R6481:Ifitm1
|
UTSW |
7 |
140,549,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7805:Ifitm1
|
UTSW |
7 |
140,548,282 (GRCm39) |
nonsense |
probably null |
|
|
R8888:Ifitm1
|
UTSW |
7 |
140,549,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8895:Ifitm1
|
UTSW |
7 |
140,549,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9604:Ifitm1
|
UTSW |
7 |
140,548,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Ifitm1
|
UTSW |
7 |
140,549,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-04-17 |
Incidental Mutation