Incidental Mutation 'R5777:Ifi206'
| ID |
446737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi206
|
| Ensembl Gene |
ENSMUSG00000037849 |
| Gene Name |
interferon activated gene 206 |
| Synonyms |
Pyblhin-C, Gm4955 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 173308928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 356
(R356K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
|
| AlphaFold |
G3UZV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160565
AA Change: R356K
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: R356K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
5.7e-21 |
SMART |
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
154 |
349 |
6.25e-15 |
PROSPERO |
|
internal_repeat_1
|
342 |
575 |
6.25e-15 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,294,000 (GRCm39) |
E41G |
probably benign |
Het |
| Amph |
A |
T |
13: 19,230,186 (GRCm39) |
N45Y |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,522 (GRCm39) |
L470Q |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,548 (GRCm39) |
I306F |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 64,933,612 (GRCm39) |
M460K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,227 (GRCm39) |
V131A |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,511,664 (GRCm39) |
H618R |
probably benign |
Het |
| Dhx38 |
C |
A |
8: 110,283,534 (GRCm39) |
V538L |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,001,733 (GRCm39) |
D151G |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,167,604 (GRCm39) |
L51P |
probably damaging |
Het |
| Gm4781 |
C |
T |
10: 100,232,831 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5134 |
C |
A |
10: 75,840,594 (GRCm39) |
F479L |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,835 (GRCm39) |
K24E |
probably benign |
Het |
| Hexa |
T |
G |
9: 59,468,243 (GRCm39) |
V290G |
probably damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,961,277 (GRCm39) |
R525Q |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,869 (GRCm39) |
I3774N |
probably damaging |
Het |
| Msh4 |
C |
A |
3: 153,569,076 (GRCm39) |
M832I |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,676,685 (GRCm39) |
E852G |
probably damaging |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,963 (GRCm39) |
C32* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,830,978 (GRCm39) |
E387G |
probably null |
Het |
| Or4f58 |
C |
T |
2: 111,851,876 (GRCm39) |
G108R |
probably damaging |
Het |
| Or55b10 |
A |
G |
7: 102,143,178 (GRCm39) |
V268A |
probably benign |
Het |
| Or5h27 |
T |
A |
16: 59,006,266 (GRCm39) |
L193F |
unknown |
Het |
| Or7a36 |
A |
C |
10: 78,820,512 (GRCm39) |
D296A |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,014 (GRCm39) |
H54Q |
probably benign |
Het |
| Or8j3c |
A |
G |
2: 86,253,669 (GRCm39) |
V117A |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,832,921 (GRCm39) |
T211A |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,876,856 (GRCm39) |
N137S |
probably damaging |
Het |
| Pgf |
T |
C |
12: 85,216,148 (GRCm39) |
T157A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,428,579 (GRCm39) |
D714G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,522,913 (GRCm39) |
I930M |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,837 (GRCm39) |
S197P |
possibly damaging |
Het |
| Skint7 |
T |
A |
4: 111,845,289 (GRCm39) |
I367N |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,830 (GRCm39) |
D652V |
probably damaging |
Het |
| Stx1b |
G |
A |
7: 127,410,090 (GRCm39) |
Q3* |
probably null |
Het |
| Tex35 |
T |
C |
1: 156,934,777 (GRCm39) |
M46V |
probably benign |
Het |
| Tkt |
A |
C |
14: 30,280,733 (GRCm39) |
T55P |
possibly damaging |
Het |
| Trim30c |
T |
C |
7: 104,032,538 (GRCm39) |
R263G |
probably benign |
Het |
| U2af2 |
G |
A |
7: 5,069,450 (GRCm39) |
R33Q |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,391,469 (GRCm39) |
V182D |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,348 (GRCm39) |
V863A |
possibly damaging |
Het |
| Zfp976 |
T |
G |
7: 42,263,504 (GRCm39) |
H111P |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,595,321 (GRCm39) |
N48Y |
probably damaging |
Het |
|
| Other mutations in Ifi206 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01509:Ifi206
|
APN |
1 |
173,313,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02044:Ifi206
|
APN |
1 |
173,308,557 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02118:Ifi206
|
APN |
1 |
173,309,334 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02476:Ifi206
|
APN |
1 |
173,309,132 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02824:Ifi206
|
APN |
1 |
173,309,438 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03375:Ifi206
|
APN |
1 |
173,308,344 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4142001:Ifi206
|
UTSW |
1 |
173,308,730 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0069:Ifi206
|
UTSW |
1 |
173,314,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Ifi206
|
UTSW |
1 |
173,301,315 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1572:Ifi206
|
UTSW |
1 |
173,314,419 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1742:Ifi206
|
UTSW |
1 |
173,309,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4109:Ifi206
|
UTSW |
1 |
173,308,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4707:Ifi206
|
UTSW |
1 |
173,308,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4783:Ifi206
|
UTSW |
1 |
173,308,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Ifi206
|
UTSW |
1 |
173,308,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4805:Ifi206
|
UTSW |
1 |
173,308,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4918:Ifi206
|
UTSW |
1 |
173,309,610 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5043:Ifi206
|
UTSW |
1 |
173,314,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5080:Ifi206
|
UTSW |
1 |
173,301,414 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5419:Ifi206
|
UTSW |
1 |
173,308,797 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5420:Ifi206
|
UTSW |
1 |
173,308,599 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5988:Ifi206
|
UTSW |
1 |
173,308,906 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6772:Ifi206
|
UTSW |
1 |
173,308,773 (GRCm39) |
missense |
unknown |
|
|
R6782:Ifi206
|
UTSW |
1 |
173,308,923 (GRCm39) |
missense |
unknown |
|
|
R6806:Ifi206
|
UTSW |
1 |
173,309,137 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7042:Ifi206
|
UTSW |
1 |
173,308,808 (GRCm39) |
missense |
|
|
|
R7091:Ifi206
|
UTSW |
1 |
173,301,441 (GRCm39) |
missense |
unknown |
|
|
R7292:Ifi206
|
UTSW |
1 |
173,301,428 (GRCm39) |
missense |
unknown |
|
|
R7429:Ifi206
|
UTSW |
1 |
173,308,157 (GRCm39) |
missense |
|
|
|
R7499:Ifi206
|
UTSW |
1 |
173,309,607 (GRCm39) |
missense |
|
|
|
R7772:Ifi206
|
UTSW |
1 |
173,308,640 (GRCm39) |
missense |
|
|
|
R7853:Ifi206
|
UTSW |
1 |
173,299,100 (GRCm39) |
nonsense |
probably null |
|
|
R7971:Ifi206
|
UTSW |
1 |
173,298,976 (GRCm39) |
missense |
unknown |
|
|
R8079:Ifi206
|
UTSW |
1 |
173,308,724 (GRCm39) |
missense |
|
|
|
R8205:Ifi206
|
UTSW |
1 |
173,309,450 (GRCm39) |
missense |
|
|
|
R8289:Ifi206
|
UTSW |
1 |
173,308,032 (GRCm39) |
missense |
|
|
|
R8390:Ifi206
|
UTSW |
1 |
173,308,511 (GRCm39) |
missense |
|
|
|
R8500:Ifi206
|
UTSW |
1 |
173,314,311 (GRCm39) |
missense |
|
|
|
R8712:Ifi206
|
UTSW |
1 |
173,308,074 (GRCm39) |
missense |
|
|
|
R8753:Ifi206
|
UTSW |
1 |
173,301,223 (GRCm39) |
missense |
unknown |
|
|
R8875:Ifi206
|
UTSW |
1 |
173,301,353 (GRCm39) |
missense |
unknown |
|
|
R9128:Ifi206
|
UTSW |
1 |
173,299,022 (GRCm39) |
missense |
unknown |
|
|
R9369:Ifi206
|
UTSW |
1 |
173,301,489 (GRCm39) |
missense |
unknown |
|
|
R9569:Ifi206
|
UTSW |
1 |
173,314,209 (GRCm39) |
missense |
|
|
|
R9676:Ifi206
|
UTSW |
1 |
173,308,718 (GRCm39) |
missense |
|
|
|
R9695:Ifi206
|
UTSW |
1 |
173,301,249 (GRCm39) |
missense |
unknown |
|
|
R9776:Ifi206
|
UTSW |
1 |
173,308,075 (GRCm39) |
missense |
|
|
|
X0052:Ifi206
|
UTSW |
1 |
173,309,535 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1088:Ifi206
|
UTSW |
1 |
173,301,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ifi206
|
UTSW |
1 |
173,309,614 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGCAGACATCTGAGGAC -3'
(R):5'- ATTAAACCTCAGGTGACCCCAG -3'
Sequencing Primer
(F):5'- CTGCAGACATCTGAGGACTGTTAC -3'
(R):5'- CAATGTTACTCAGCGGTGTCCAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation