Incidental Mutation 'R6806:Ifi206'
| ID |
537463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi206
|
| Ensembl Gene |
ENSMUSG00000037849 |
| Gene Name |
interferon activated gene 206 |
| Synonyms |
Pyblhin-C, Gm4955 |
| MMRRC Submission |
044919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 173309137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 286
(M286I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
|
| AlphaFold |
G3UZV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160565
AA Change: M286I
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: M286I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
95% (39/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,207 (GRCm39) |
D132E |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,288,098 (GRCm39) |
S258P |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,575,301 (GRCm39) |
M509K |
possibly damaging |
Het |
| Ccdc186 |
T |
A |
19: 56,788,561 (GRCm39) |
K549N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,094 (GRCm39) |
R238H |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,868,374 (GRCm39) |
C30Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,342 (GRCm39) |
Q520R |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,411 (GRCm39) |
|
probably null |
Het |
| Ebna1bp2 |
T |
C |
4: 118,478,174 (GRCm39) |
C16R |
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,751,826 (GRCm39) |
Y579H |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,492,908 (GRCm39) |
V2478I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,950 (GRCm39) |
E6G |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,856,012 (GRCm39) |
S744G |
possibly damaging |
Het |
| Magi3 |
T |
A |
3: 103,954,285 (GRCm39) |
N684I |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,449,206 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
G |
T |
4: 152,622,558 (GRCm39) |
Q614H |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,217,509 (GRCm39) |
I11T |
probably damaging |
Het |
| Or51q1 |
G |
T |
7: 103,628,771 (GRCm39) |
R124L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,104,627 (GRCm39) |
|
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,666 (GRCm39) |
N58K |
probably damaging |
Het |
| Ptk7 |
C |
T |
17: 46,884,454 (GRCm39) |
V759M |
probably damaging |
Het |
| Rassf7 |
A |
G |
7: 140,796,722 (GRCm39) |
T28A |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,210,804 (GRCm39) |
T445I |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsrc2 |
T |
G |
5: 123,877,594 (GRCm39) |
|
probably benign |
Het |
| Saxo2 |
A |
T |
7: 82,284,240 (GRCm39) |
I206N |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,011,640 (GRCm39) |
Y409N |
probably damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,851,032 (GRCm39) |
N365K |
probably benign |
Het |
| Stkld1 |
C |
G |
2: 26,833,922 (GRCm39) |
N136K |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,461,166 (GRCm39) |
D904G |
possibly damaging |
Het |
| Tmf1 |
G |
A |
6: 97,138,408 (GRCm39) |
R837* |
probably null |
Het |
| Tnn |
T |
C |
1: 159,948,278 (GRCm39) |
T812A |
possibly damaging |
Het |
| Trgj4 |
T |
C |
13: 19,526,365 (GRCm39) |
L15P |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,059,147 (GRCm39) |
I905V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,786,308 (GRCm39) |
|
probably benign |
Het |
| Zfp446 |
T |
C |
7: 12,713,043 (GRCm39) |
L27P |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,235,809 (GRCm39) |
D57G |
possibly damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,985,766 (GRCm39) |
|
probably benign |
Het |
| Zfp978 |
G |
A |
4: 147,475,284 (GRCm39) |
R277K |
probably benign |
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 |
|
R5777:Ifi206
|
UTSW |
1 |
173,308,928 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
|
|
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'- GACCATCTTGATGGGGTCAGTC -3'
(R):5'- TGTCTGGCAACCTCAACAC -3'
Sequencing Primer
(F):5'- TCAGTCGAAAGCTCTGGC -3'
(R):5'- GGCAACCTCAACACTTCCTTGTAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation