Incidental Mutation 'R5043:Ifi206'
| ID |
393282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi206
|
| Ensembl Gene |
ENSMUSG00000037849 |
| Gene Name |
interferon activated gene 206 |
| Synonyms |
Pyblhin-C, Gm4955 |
| MMRRC Submission |
042633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 173314284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 52
(M52K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
|
| AlphaFold |
G3UZV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160565
AA Change: M52K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: M52K
| 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 |
|
| Meta Mutation Damage Score |
0.7094 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,980,910 (GRCm39) |
Y106* |
probably null |
Het |
| Acsbg3 |
A |
G |
17: 57,192,198 (GRCm39) |
Y587C |
probably damaging |
Het |
| Akap12 |
G |
C |
10: 4,305,047 (GRCm39) |
G619A |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,767,653 (GRCm39) |
K32E |
probably benign |
Het |
| Capg |
T |
A |
6: 72,535,237 (GRCm39) |
Y253* |
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,942,162 (GRCm39) |
F189L |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,028,081 (GRCm39) |
S496P |
probably benign |
Het |
| Cxcl11 |
T |
C |
5: 92,511,011 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,399,785 (GRCm39) |
L217P |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,601,863 (GRCm39) |
R274L |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,606,147 (GRCm39) |
S3776L |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,097,362 (GRCm39) |
T94A |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,400,174 (GRCm39) |
Y397* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,518,072 (GRCm39) |
N79D |
probably benign |
Het |
| Glmp |
T |
G |
3: 88,233,983 (GRCm39) |
|
probably benign |
Het |
| Gm5921 |
C |
T |
9: 115,267,087 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
A |
G |
8: 19,743,686 (GRCm39) |
T104A |
probably benign |
Het |
| Iqcc |
T |
C |
4: 129,512,070 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,197,135 (GRCm39) |
H288L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,771,224 (GRCm39) |
|
probably null |
Het |
| Nisch |
A |
G |
14: 30,898,422 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,824 (GRCm39) |
N575S |
probably benign |
Het |
| Or1n2 |
A |
C |
2: 36,796,977 (GRCm39) |
R6S |
probably benign |
Het |
| Or8b49 |
A |
G |
9: 38,506,137 (GRCm39) |
I207V |
probably damaging |
Het |
| Phlda1 |
T |
A |
10: 111,343,152 (GRCm39) |
L296Q |
unknown |
Het |
| Pramel19 |
T |
C |
4: 101,797,721 (GRCm39) |
F40L |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,886,837 (GRCm39) |
E182K |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,620,368 (GRCm39) |
T767M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,195 (GRCm39) |
V24M |
probably damaging |
Het |
| Slc7a14 |
T |
G |
3: 31,291,615 (GRCm39) |
N221T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,721 (GRCm39) |
S331P |
possibly damaging |
Het |
| Snx1 |
C |
T |
9: 66,004,718 (GRCm39) |
A183T |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,729,515 (GRCm39) |
T375A |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,672 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
A |
T |
9: 122,577,469 (GRCm39) |
E126D |
probably benign |
Het |
| Ugt2b1 |
C |
G |
5: 87,065,503 (GRCm39) |
C512S |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,399,719 (GRCm39) |
W263* |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,634,608 (GRCm39) |
M750K |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,608,109 (GRCm39) |
Y1257C |
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 |
|
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 |
|
|
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'- AGCTGGCAAGTTTAGGGATG -3'
(R):5'- GCTGTTTGCTACCTAGATATGCTC -3'
Sequencing Primer
(F):5'- CTGGCAAGTTTAGGGATGGTAGAG -3'
(R):5'- AATGGTCTCTTATGTGTGTAATTCAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation