Incidental Mutation 'R2445:Ifna13'
ID |
250548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifna13
|
Ensembl Gene |
ENSMUSG00000063376 |
Gene Name |
interferon alpha 13 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R2445 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
88561878-88562696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88562133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 164
(W164R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105149]
|
AlphaFold |
Q80SU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072734
AA Change: W164R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072517 Gene: ENSMUSG00000063376 AA Change: W164R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IFabd
|
58 |
175 |
2.2e-71 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105149
AA Change: W164R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100780 Gene: ENSMUSG00000063376 AA Change: W164R
Domain | Start | End | E-Value | Type |
IFabd
|
50 |
167 |
2.2e-71 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120871
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
4930562C15Rik |
T |
A |
16: 4,682,261 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
G |
T |
6: 34,287,869 (GRCm39) |
D163E |
probably benign |
Het |
D130043K22Rik |
A |
G |
13: 25,041,019 (GRCm39) |
D147G |
probably benign |
Het |
F5 |
T |
C |
1: 164,017,795 (GRCm39) |
F624S |
probably damaging |
Het |
Gpr182 |
T |
C |
10: 127,586,496 (GRCm39) |
T152A |
probably benign |
Het |
Lsg1 |
C |
A |
16: 30,383,513 (GRCm39) |
R569L |
probably benign |
Het |
Mmp27 |
T |
C |
9: 7,581,182 (GRCm39) |
S456P |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,437,176 (GRCm39) |
V449A |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or10ag60 |
T |
C |
2: 87,438,302 (GRCm39) |
I190T |
probably damaging |
Het |
Ptpn23 |
G |
T |
9: 110,216,700 (GRCm39) |
P1052Q |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,442,655 (GRCm39) |
H1567R |
probably damaging |
Het |
Slc30a7 |
A |
T |
3: 115,772,302 (GRCm39) |
I280K |
probably damaging |
Het |
Slc6a18 |
A |
T |
13: 73,814,871 (GRCm39) |
C15* |
probably null |
Het |
Tnrc18 |
T |
A |
5: 142,757,870 (GRCm39) |
I884F |
unknown |
Het |
Trav6d-3 |
G |
A |
14: 52,964,285 (GRCm39) |
A83T |
probably damaging |
Het |
Zgpat |
C |
A |
2: 181,007,953 (GRCm39) |
C163* |
probably null |
Het |
|
Other mutations in Ifna13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02748:Ifna13
|
APN |
4 |
88,562,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R1691:Ifna13
|
UTSW |
4 |
88,562,291 (GRCm39) |
missense |
probably benign |
0.00 |
R1938:Ifna13
|
UTSW |
4 |
88,562,412 (GRCm39) |
missense |
probably damaging |
0.98 |
R1986:Ifna13
|
UTSW |
4 |
88,562,588 (GRCm39) |
missense |
probably benign |
0.00 |
R2279:Ifna13
|
UTSW |
4 |
88,562,156 (GRCm39) |
missense |
probably benign |
0.27 |
R2435:Ifna13
|
UTSW |
4 |
88,562,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R4041:Ifna13
|
UTSW |
4 |
88,562,228 (GRCm39) |
missense |
probably benign |
0.00 |
R4612:Ifna13
|
UTSW |
4 |
88,562,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R6271:Ifna13
|
UTSW |
4 |
88,562,082 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8783:Ifna13
|
UTSW |
4 |
88,562,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R8833:Ifna13
|
UTSW |
4 |
88,562,157 (GRCm39) |
nonsense |
probably null |
|
R9433:Ifna13
|
UTSW |
4 |
88,562,540 (GRCm39) |
missense |
probably benign |
0.08 |
RF009:Ifna13
|
UTSW |
4 |
88,562,145 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ifna13
|
UTSW |
4 |
88,562,615 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAACATCTAGGCAGGTTGATTG -3'
(R):5'- GACTCATCTGCTGCATGGAATG -3'
Sequencing Primer
(F):5'- ACATCTAGGCAGGTTGATTGTATTC -3'
(R):5'- TGGAATGCAACCCTCCTAGACTC -3'
|
Posted On |
2014-11-12 |