Incidental Mutation 'R8875:Ifi206'
| ID |
676504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi206
|
| Ensembl Gene |
ENSMUSG00000037849 |
| Gene Name |
interferon activated gene 206 |
| Synonyms |
Pyblhin-C, Gm4955 |
| MMRRC Submission |
068687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R8875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173301353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 775
(Y775C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
[ENSMUST00000169797]
|
| AlphaFold |
G3UZV2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000160565
AA Change: Y775C
|
| SMART Domains |
Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: Y775C
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169797
AA Change: Y47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133809
Gene: ENSMUSG00000037849
AA Change: Y47C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HIN
|
1 |
142 |
8.8e-66 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
A |
G |
11: 70,126,380 (GRCm39) |
V140A |
|
Het |
| Ablim1 |
G |
T |
19: 57,119,386 (GRCm39) |
H233N |
probably benign |
Het |
| Adra1a |
A |
T |
14: 66,875,214 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,233 (GRCm39) |
D245G |
unknown |
Het |
| Ap4e1 |
T |
C |
2: 126,877,100 (GRCm39) |
I279T |
probably damaging |
Het |
| Bap1 |
T |
G |
14: 30,975,522 (GRCm39) |
F122C |
probably damaging |
Het |
| Cdc5l |
T |
C |
17: 45,703,915 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,151,783 (GRCm39) |
I309N |
probably damaging |
Het |
| Cnpy3 |
T |
C |
17: 47,048,185 (GRCm39) |
I177V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,027,994 (GRCm39) |
K467E |
possibly damaging |
Het |
| D630039A03Rik |
T |
G |
4: 57,910,320 (GRCm39) |
N164T |
probably benign |
Het |
| Dnah7a |
C |
A |
1: 53,682,682 (GRCm39) |
A263S |
probably benign |
Het |
| Eif2s1 |
G |
A |
12: 78,913,461 (GRCm39) |
R54Q |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,703,224 (GRCm39) |
D1600E |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,493,600 (GRCm39) |
F3915L |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,093 (GRCm39) |
S142T |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,406,380 (GRCm39) |
Y1159C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,820,782 (GRCm39) |
V5505D |
possibly damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,379,514 (GRCm39) |
M296T |
probably damaging |
Het |
| Gm11562 |
A |
T |
11: 99,511,177 (GRCm39) |
S8T |
unknown |
Het |
| Hoxd11 |
A |
G |
2: 74,513,365 (GRCm39) |
D210G |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,469,101 (GRCm39) |
V171A |
possibly damaging |
Het |
| Nherf2 |
T |
A |
17: 24,866,703 (GRCm39) |
|
probably null |
Het |
| Nr2f1 |
A |
C |
13: 78,337,970 (GRCm39) |
I382S |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
| Or51l4 |
G |
A |
7: 103,404,462 (GRCm39) |
S110F |
probably damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,670 (GRCm39) |
T81A |
probably benign |
Het |
| Pdcd1 |
C |
T |
1: 93,967,092 (GRCm39) |
D269N |
probably benign |
Het |
| Pira12 |
A |
G |
7: 3,897,256 (GRCm39) |
S527P |
probably damaging |
Het |
| Plbd2 |
A |
G |
5: 120,637,121 (GRCm39) |
Y114H |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,618,391 (GRCm39) |
C715R |
probably damaging |
Het |
| Plin4 |
G |
A |
17: 56,411,010 (GRCm39) |
A1007V |
probably benign |
Het |
| Ptprs |
G |
T |
17: 56,742,946 (GRCm39) |
P399T |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,507,186 (GRCm39) |
I1181N |
possibly damaging |
Het |
| Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
T |
C |
2: 155,938,841 (GRCm39) |
E477G |
probably damaging |
Het |
| Rpl7 |
T |
C |
1: 16,173,753 (GRCm39) |
K57R |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,123,476 (GRCm39) |
A3178V |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,832,728 (GRCm39) |
C99Y |
probably damaging |
Het |
| Tas1r1 |
T |
A |
4: 152,113,047 (GRCm39) |
T669S |
probably benign |
Het |
| Tle5 |
A |
T |
10: 81,400,534 (GRCm39) |
I73F |
probably benign |
Het |
| Tm2d2 |
T |
C |
8: 25,507,443 (GRCm39) |
L20P |
possibly damaging |
Het |
| Tmem158 |
G |
T |
9: 123,089,132 (GRCm39) |
A160E |
possibly damaging |
Het |
| Tpst2 |
T |
A |
5: 112,457,714 (GRCm39) |
Y347* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,887,493 (GRCm39) |
I876T |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,751,199 (GRCm39) |
F1364L |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,776,194 (GRCm39) |
S1713T |
possibly damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,336,549 (GRCm39) |
S69P |
possibly damaging |
Het |
| Zfp982 |
C |
A |
4: 147,595,320 (GRCm39) |
N47K |
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 |
|
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 |
|
|
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'- CTAAGACTTGAAATCTGGGGTTGC -3'
(R):5'- TGGTGTTAAAAGTCACAGAGCC -3'
Sequencing Primer
(F):5'- ACTTGAAATCTGGGGTTGCAAATG -3'
(R):5'- GTGTTAAAAGTCACAGAGCCATTCAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation