Incidental Mutation 'R6510:Ifi205'
| ID |
519878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi205
|
| Ensembl Gene |
ENSMUSG00000054203 |
| Gene Name |
interferon activated gene 205 |
| Synonyms |
D3 |
| MMRRC Submission |
044423-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6510 (G1)
|
| Quality Score |
120.008 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173839564-173859376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173845131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 217
(D217V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059226]
|
| AlphaFold |
Q8CGE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059226
AA Change: D217V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062409
Gene: ENSMUSG00000054203
AA Change: D217V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
9.42e-13 |
SMART |
|
low complexity region
|
102 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
185 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
204 |
372 |
2e-76 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,770,645 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,707,609 (GRCm39) |
T1266A |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,743 (GRCm39) |
N1758S |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,482 (GRCm39) |
E182D |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,662,217 (GRCm39) |
D77G |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,861 (GRCm39) |
D108G |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,335 (GRCm39) |
F452S |
unknown |
Het |
| Gas2 |
T |
C |
7: 51,593,460 (GRCm39) |
L180P |
probably damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,685 (GRCm39) |
Y105H |
probably damaging |
Het |
| Igsf9 |
C |
G |
1: 172,317,864 (GRCm39) |
Q74E |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,009,816 (GRCm39) |
F380I |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,962,629 (GRCm39) |
V128A |
possibly damaging |
Het |
| Mmp20 |
T |
A |
9: 7,643,967 (GRCm39) |
N218K |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,489,772 (GRCm39) |
K73* |
probably null |
Het |
| Or4c103 |
C |
T |
2: 88,513,302 (GRCm39) |
R258H |
probably benign |
Het |
| Pate2 |
T |
A |
9: 35,581,018 (GRCm39) |
C11S |
probably null |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,159,875 (GRCm39) |
D297G |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,854,058 (GRCm39) |
L137Q |
probably benign |
Het |
| Treml4 |
A |
G |
17: 48,581,472 (GRCm39) |
D249G |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,115 (GRCm39) |
C116R |
probably benign |
Het |
|
| Other mutations in Ifi205 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Ifi205
|
APN |
1 |
173,854,899 (GRCm39) |
splice site |
probably benign |
|
|
IGL02419:Ifi205
|
APN |
1 |
173,845,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02476:Ifi205
|
APN |
1 |
173,842,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03128:Ifi205
|
APN |
1 |
173,842,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03154:Ifi205
|
APN |
1 |
173,845,232 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Ifi205
|
UTSW |
1 |
173,855,994 (GRCm39) |
missense |
probably benign |
|
|
R1932:Ifi205
|
UTSW |
1 |
173,855,980 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2397:Ifi205
|
UTSW |
1 |
173,845,141 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3115:Ifi205
|
UTSW |
1 |
173,855,901 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4534:Ifi205
|
UTSW |
1 |
173,845,207 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4544:Ifi205
|
UTSW |
1 |
173,854,139 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4715:Ifi205
|
UTSW |
1 |
173,855,887 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4977:Ifi205
|
UTSW |
1 |
173,842,574 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5844:Ifi205
|
UTSW |
1 |
173,854,258 (GRCm39) |
splice site |
probably null |
|
|
R6061:Ifi205
|
UTSW |
1 |
173,854,830 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7032:Ifi205
|
UTSW |
1 |
173,855,916 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7196:Ifi205
|
UTSW |
1 |
173,854,109 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7244:Ifi205
|
UTSW |
1 |
173,845,210 (GRCm39) |
nonsense |
probably null |
|
|
R7419:Ifi205
|
UTSW |
1 |
173,855,874 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7431:Ifi205
|
UTSW |
1 |
173,855,943 (GRCm39) |
missense |
probably benign |
|
|
R7660:Ifi205
|
UTSW |
1 |
173,855,814 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7787:Ifi205
|
UTSW |
1 |
173,842,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Ifi205
|
UTSW |
1 |
173,842,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Ifi205
|
UTSW |
1 |
173,855,841 (GRCm39) |
missense |
probably benign |
|
|
R9163:Ifi205
|
UTSW |
1 |
173,844,988 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9348:Ifi205
|
UTSW |
1 |
173,844,997 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9376:Ifi205
|
UTSW |
1 |
173,854,221 (GRCm39) |
missense |
probably benign |
|
|
R9477:Ifi205
|
UTSW |
1 |
173,854,155 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCTCCAGGATGCCTTTGC -3'
(R):5'- GCCTTTTGGTCAACTAAAGAATTCC -3'
Sequencing Primer
(F):5'- GCTCTCAAAGTAATTGGATATGGTG -3'
(R):5'- GGAACAATGTTGAGATTGAGATTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation