Incidental Mutation 'R7091:Ifi206'
ID |
550190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi206
|
Ensembl Gene |
ENSMUSG00000037849 |
Gene Name |
interferon activated gene 206 |
Synonyms |
Pyblhin-C, Gm4955 |
MMRRC Submission |
045185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R7091 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 173301441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 746
(F746L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
[ENSMUST00000169797]
|
AlphaFold |
G3UZV2 |
Predicted Effect |
unknown
Transcript: ENSMUST00000160565
AA Change: F746L
|
SMART Domains |
Protein: ENSMUSP00000134646 Gene: ENSMUSG00000037849 AA Change: F746L
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 |
possibly damaging
Transcript: ENSMUST00000169797
AA Change: F18L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133809 Gene: ENSMUSG00000037849 AA Change: F18L
Domain | Start | End | E-Value | Type |
Pfam:HIN
|
1 |
142 |
8.8e-66 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (56/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
C |
3: 40,871,173 (GRCm39) |
I111L |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,548,679 (GRCm39) |
D11G |
probably benign |
Het |
Ank2 |
G |
T |
3: 126,817,000 (GRCm39) |
Q472K |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,470,677 (GRCm39) |
L520H |
probably damaging |
Het |
Baat |
T |
C |
4: 49,499,692 (GRCm39) |
K205E |
probably benign |
Het |
Brca1 |
T |
A |
11: 101,417,253 (GRCm39) |
M294L |
probably benign |
Het |
Capn1 |
A |
G |
19: 6,041,586 (GRCm39) |
M641T |
possibly damaging |
Het |
Cluap1 |
T |
A |
16: 3,758,670 (GRCm39) |
D377E |
probably benign |
Het |
Col6a2 |
C |
T |
10: 76,450,925 (GRCm39) |
V39I |
unknown |
Het |
Crybg3 |
T |
A |
16: 59,377,531 (GRCm39) |
D1241V |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,893,206 (GRCm39) |
K3380R |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,768,733 (GRCm39) |
I1400M |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,522,062 (GRCm39) |
D219G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,856,535 (GRCm39) |
S1973G |
probably benign |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
G3bp1 |
T |
A |
11: 55,387,047 (GRCm39) |
H271Q |
possibly damaging |
Het |
Glce |
A |
G |
9: 61,967,870 (GRCm39) |
V427A |
probably damaging |
Het |
Gm5141 |
T |
C |
13: 62,921,778 (GRCm39) |
T464A |
possibly damaging |
Het |
Gulp1 |
T |
A |
1: 44,805,294 (GRCm39) |
F128I |
probably damaging |
Het |
H2-T13 |
T |
C |
17: 36,394,833 (GRCm39) |
E30G |
possibly damaging |
Het |
Hcrtr1 |
A |
C |
4: 130,024,707 (GRCm39) |
L393W |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,547,090 (GRCm39) |
S650P |
probably benign |
Het |
Hspa4l |
T |
A |
3: 40,736,024 (GRCm39) |
N569K |
probably benign |
Het |
Ivl |
T |
C |
3: 92,479,549 (GRCm39) |
D172G |
possibly damaging |
Het |
Lrp5 |
A |
T |
19: 3,680,184 (GRCm39) |
D433E |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,745,210 (GRCm39) |
S1826P |
possibly damaging |
Het |
Ms4a18 |
A |
T |
19: 10,986,092 (GRCm39) |
L206M |
probably damaging |
Het |
Msln |
A |
T |
17: 25,969,054 (GRCm39) |
C444S |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,100,022 (GRCm39) |
D644G |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
Naa15 |
T |
C |
3: 51,366,177 (GRCm39) |
|
probably null |
Het |
Nadk |
A |
G |
4: 155,672,215 (GRCm39) |
H302R |
probably benign |
Het |
Neb |
T |
A |
2: 52,146,124 (GRCm39) |
N15I |
|
Het |
Nup153 |
A |
T |
13: 46,837,404 (GRCm39) |
S1273T |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,226,243 (GRCm39) |
I763T |
probably damaging |
Het |
Or4b13 |
T |
C |
2: 90,082,807 (GRCm39) |
Y175C |
probably damaging |
Het |
Oxsr1 |
T |
C |
9: 119,113,727 (GRCm39) |
I107V |
probably benign |
Het |
Prmt5 |
A |
G |
14: 54,748,799 (GRCm39) |
|
probably null |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ranbp6 |
A |
G |
19: 29,790,116 (GRCm39) |
S79P |
probably damaging |
Het |
Reln |
T |
C |
5: 22,104,027 (GRCm39) |
I3315V |
probably null |
Het |
Rnf223 |
T |
C |
4: 156,217,156 (GRCm39) |
V177A |
probably benign |
Het |
Slc20a1 |
C |
T |
2: 129,050,192 (GRCm39) |
T450M |
possibly damaging |
Het |
Smg5 |
C |
T |
3: 88,258,654 (GRCm39) |
P542S |
probably benign |
Het |
Sorl1 |
T |
A |
9: 41,913,930 (GRCm39) |
Q1333L |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,204,017 (GRCm39) |
|
probably null |
Het |
Spopfm1 |
T |
C |
3: 94,173,945 (GRCm39) |
F314L |
probably damaging |
Het |
Tdp2 |
T |
A |
13: 25,022,207 (GRCm39) |
F209I |
probably damaging |
Het |
Tgm4 |
C |
A |
9: 122,869,525 (GRCm39) |
L35M |
probably damaging |
Het |
Tma7 |
A |
G |
9: 108,911,580 (GRCm39) |
|
probably benign |
Het |
Tmprss4 |
A |
T |
9: 45,095,571 (GRCm39) |
V91D |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,223,268 (GRCm39) |
M39K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,543,912 (GRCm39) |
T33025S |
probably benign |
Het |
Tut1 |
A |
G |
19: 8,943,175 (GRCm39) |
H754R |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,200,904 (GRCm39) |
Q351P |
possibly damaging |
Het |
Wee2 |
G |
T |
6: 40,438,936 (GRCm39) |
G353V |
probably benign |
Het |
Zfp747l1 |
C |
A |
7: 126,983,534 (GRCm39) |
A523S |
possibly damaging |
Het |
Zfp879 |
T |
A |
11: 50,724,222 (GRCm39) |
H278L |
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 |
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 |
|
|
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'- ACAAATGTTCCTGCTCTTTGTG -3'
(R):5'- AACTGTGCCTGGCTTTCCTATG -3'
Sequencing Primer
(F):5'- AAGAGTACTAATTTTAGGTGTTGCG -3'
(R):5'- TTCTATGCAGAAACCAAGACTGAAG -3'
|
Posted On |
2019-05-15 |