Incidental Mutation 'R7042:Ifi206'
| ID |
547092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi206
|
| Ensembl Gene |
ENSMUSG00000037849 |
| Gene Name |
interferon activated gene 206 |
| Synonyms |
Pyblhin-C, Gm4955 |
| MMRRC Submission |
045141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R7042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 173308808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 396
(P396L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
|
| AlphaFold |
G3UZV2 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: P396L
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,192,098 (GRCm39) |
S554G |
possibly damaging |
Het |
| Adcy7 |
G |
T |
8: 89,042,378 (GRCm39) |
R415L |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,141,759 (GRCm39) |
I1182F |
probably damaging |
Het |
| Ccdc7b |
T |
A |
8: 129,811,730 (GRCm39) |
Y147N |
probably benign |
Het |
| Clcnka |
A |
G |
4: 141,118,691 (GRCm39) |
I398T |
probably damaging |
Het |
| Cst8 |
T |
A |
2: 148,641,796 (GRCm39) |
|
probably null |
Het |
| Dcxr |
T |
C |
11: 120,617,841 (GRCm39) |
D45G |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,283,617 (GRCm39) |
M510K |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,218,061 (GRCm39) |
I182M |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,882,338 (GRCm39) |
H431Q |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,768,999 (GRCm39) |
I681T |
probably damaging |
Het |
| Etf1 |
T |
C |
18: 35,043,219 (GRCm39) |
N164S |
probably benign |
Het |
| Fmo2 |
A |
G |
1: 162,708,226 (GRCm39) |
V303A |
probably damaging |
Het |
| Foxl2 |
T |
A |
9: 98,837,715 (GRCm39) |
M1K |
probably null |
Het |
| Gm3404 |
A |
T |
5: 146,462,969 (GRCm39) |
E50D |
probably benign |
Het |
| Gpr61 |
G |
A |
3: 108,058,647 (GRCm39) |
P5S |
possibly damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,024,653 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,017,828 (GRCm39) |
F3I |
possibly damaging |
Het |
| Ifi209 |
G |
A |
1: 173,470,236 (GRCm39) |
V275I |
probably benign |
Het |
| Ighv1-69 |
T |
C |
12: 115,586,909 (GRCm39) |
S75G |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,484,877 (GRCm39) |
H325L |
possibly damaging |
Het |
| Klrk1 |
A |
T |
6: 129,593,734 (GRCm39) |
S50T |
possibly damaging |
Het |
| Mfsd4b4 |
T |
A |
10: 39,768,514 (GRCm39) |
Y193F |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,116,905 (GRCm39) |
I210V |
possibly damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,746 (GRCm39) |
I208F |
possibly damaging |
Het |
| Or5w12 |
A |
T |
2: 87,501,935 (GRCm39) |
Y259N |
possibly damaging |
Het |
| Or8b3 |
G |
T |
9: 38,314,196 (GRCm39) |
G6C |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,622 (GRCm39) |
S52G |
possibly damaging |
Het |
| Pax6 |
A |
T |
2: 105,526,718 (GRCm39) |
H208L |
probably benign |
Het |
| Pgc |
C |
A |
17: 48,044,745 (GRCm39) |
Q331K |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,605,721 (GRCm39) |
S370P |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,093,337 (GRCm39) |
I226T |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,132,965 (GRCm39) |
S342P |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,153,588 (GRCm39) |
M312V |
probably damaging |
Het |
| Ppp3cc |
T |
G |
14: 70,462,468 (GRCm39) |
K399Q |
probably benign |
Het |
| Qpctl |
T |
C |
7: 18,880,943 (GRCm39) |
H163R |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,110 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,802,025 (GRCm39) |
|
probably null |
Het |
| Rem2 |
T |
A |
14: 54,715,548 (GRCm39) |
I171N |
probably damaging |
Het |
| Sec22a |
T |
A |
16: 35,149,885 (GRCm39) |
I214L |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 79,130,070 (GRCm39) |
D54G |
probably damaging |
Het |
| Slc27a2 |
C |
T |
2: 126,409,700 (GRCm39) |
A294V |
probably damaging |
Het |
| Slfn14 |
T |
A |
11: 83,167,430 (GRCm39) |
D695V |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,359,301 (GRCm39) |
I975K |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,206,043 (GRCm39) |
F835L |
probably benign |
Het |
| Tars2 |
A |
T |
3: 95,658,057 (GRCm39) |
H222Q |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,206,477 (GRCm39) |
F273I |
probably damaging |
Het |
| Ttc39d |
C |
A |
17: 80,523,891 (GRCm39) |
D183E |
probably benign |
Het |
| Vasp |
A |
G |
7: 18,995,946 (GRCm39) |
S128P |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,818,378 (GRCm39) |
S2P |
unknown |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,184 (GRCm39) |
Y729H |
probably benign |
Het |
| Wdr18 |
A |
T |
10: 79,801,944 (GRCm39) |
D243V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,343,633 (GRCm39) |
V1958A |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,474 (GRCm39) |
M492K |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
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 |
|
|
R6806:Ifi206
|
UTSW |
1 |
173,309,137 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- TGTTGCTGCAGAGATCTGAG -3'
(R):5'- GGTGACTCCAGTAACAGTGG -3'
Sequencing Primer
(F):5'- TCTGAGGACTATTACAGCCATGG -3'
(R):5'- TCCAGTAACAGTGGCCAGCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation