Incidental Mutation 'R1326:Ifna7'
| ID |
157213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifna7
|
| Ensembl Gene |
ENSMUSG00000100713 |
| Gene Name |
interferon alpha 7 |
| Synonyms |
Ifa7 |
| MMRRC Submission |
039392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R1326 (G1)
|
| Quality Score |
122 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
88734465-88735037 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88734931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 156
(E156V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105143]
[ENSMUST00000170428]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105143
AA Change: E156V
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100774
Gene: ENSMUSG00000100713
AA Change: E156V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IFabd
|
58 |
175 |
2.32e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170428
|
| SMART Domains |
Protein: ENSMUSP00000127921
Gene: ENSMUSG00000100549
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IFabd
|
58 |
175 |
5.54e-68 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
| Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,357 (GRCm39) |
I130T |
possibly damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
| Errfi1 |
T |
C |
4: 150,949,621 (GRCm39) |
V6A |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,582,592 (GRCm39) |
|
probably null |
Het |
| Fsbp |
A |
G |
4: 11,579,891 (GRCm39) |
Y53C |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,543 (GRCm39) |
F289S |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,857,288 (GRCm39) |
T491A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,379 (GRCm39) |
L60Q |
probably damaging |
Het |
| Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
| Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
probably damaging |
Het |
|
| Other mutations in Ifna7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Ifna7
|
APN |
4 |
88,734,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1352:Ifna7
|
UTSW |
4 |
88,734,897 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1420:Ifna7
|
UTSW |
4 |
88,734,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1655:Ifna7
|
UTSW |
4 |
88,734,897 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3767:Ifna7
|
UTSW |
4 |
88,734,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Ifna7
|
UTSW |
4 |
88,734,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Ifna7
|
UTSW |
4 |
88,734,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Ifna7
|
UTSW |
4 |
88,734,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Ifna7
|
UTSW |
4 |
88,734,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Ifna7
|
UTSW |
4 |
88,734,664 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9636:Ifna7
|
UTSW |
4 |
88,734,733 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGCCTGAAGGACAGAAAGGAC -3'
(R):5'- TGCAGAAGCATCTAGGCAACTCG -3'
Sequencing Primer
(F):5'- CTTTAGATTCCCCCAGGAGAAGG -3'
(R):5'- GGCAACTCGCTTCAATTAATGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation