Incidental Mutation 'R5080:Ifi206'
| ID |
387062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi206
|
| Ensembl Gene |
ENSMUSG00000037849 |
| Gene Name |
interferon activated gene 206 |
| Synonyms |
Pyblhin-C, Gm4955 |
| MMRRC Submission |
042669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R5080 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173301414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 755
(I755F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
[ENSMUST00000169797]
|
| AlphaFold |
G3UZV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037976
AA Change: I69F
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133946
Gene: ENSMUSG00000037849
AA Change: I69F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HIN
|
18 |
185 |
8.3e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160565
AA Change: I755F
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: I755F
| 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 benign
Transcript: ENSMUST00000169797
AA Change: I27F
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133809
Gene: ENSMUSG00000037849
AA Change: I27F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HIN
|
1 |
142 |
8.8e-66 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,286,744 (GRCm39) |
G16S |
possibly damaging |
Het |
| Adcy4 |
A |
T |
14: 56,009,832 (GRCm39) |
M740K |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,012 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
A |
2: 130,812,044 (GRCm39) |
I663N |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,567,394 (GRCm39) |
|
probably null |
Het |
| Carf |
C |
A |
1: 60,189,772 (GRCm39) |
Q631K |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,908,175 (GRCm39) |
D306G |
probably benign |
Het |
| Corin |
T |
A |
5: 72,511,194 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,257,373 (GRCm39) |
F575L |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,247,690 (GRCm39) |
D181G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,162,565 (GRCm39) |
M1I |
probably null |
Het |
| Dnah7b |
C |
T |
1: 46,221,540 (GRCm39) |
R1215* |
probably null |
Het |
| Dpp3 |
T |
A |
19: 4,965,108 (GRCm39) |
D464V |
probably benign |
Het |
| Drosha |
C |
A |
15: 12,842,229 (GRCm39) |
A344D |
probably benign |
Het |
| Fat3 |
G |
T |
9: 15,910,634 (GRCm39) |
S1789R |
probably benign |
Het |
| Fhip2a |
A |
T |
19: 57,361,713 (GRCm39) |
K134I |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,230 (GRCm39) |
T90A |
possibly damaging |
Het |
| Frrs1 |
T |
C |
3: 116,696,585 (GRCm39) |
I544T |
probably benign |
Het |
| Gm20939 |
T |
C |
17: 95,184,419 (GRCm39) |
C356R |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,649 (GRCm39) |
V249E |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,848,993 (GRCm39) |
L230* |
probably null |
Het |
| Lce1e |
C |
T |
3: 92,615,137 (GRCm39) |
C70Y |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,850,638 (GRCm39) |
N892S |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,846,570 (GRCm39) |
M337L |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,331 (GRCm39) |
C164S |
probably damaging |
Het |
| Or2y1b |
G |
T |
11: 49,208,914 (GRCm39) |
M180I |
probably benign |
Het |
| Or5j3 |
G |
A |
2: 86,128,258 (GRCm39) |
V33M |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,354,429 (GRCm39) |
S15P |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,750 (GRCm39) |
Y1076C |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,947,509 (GRCm39) |
H1391L |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,316,742 (GRCm39) |
Y573C |
probably benign |
Het |
| Prpf3 |
T |
A |
3: 95,741,109 (GRCm39) |
H600L |
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,446 (GRCm39) |
|
noncoding transcript |
Het |
| Serpini1 |
T |
C |
3: 75,523,967 (GRCm39) |
S192P |
probably damaging |
Het |
| Sp110 |
G |
T |
1: 85,523,776 (GRCm39) |
Y18* |
probably null |
Het |
| Stard6 |
A |
T |
18: 70,629,293 (GRCm39) |
I126F |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,945,592 (GRCm39) |
L660H |
probably damaging |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Tns1 |
G |
T |
1: 73,992,099 (GRCm39) |
P860T |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,030,177 (GRCm39) |
S994P |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,912,816 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,218,289 (GRCm39) |
E1890K |
probably damaging |
Het |
| Wasf3 |
C |
T |
5: 146,397,907 (GRCm39) |
H225Y |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,897,710 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
C |
18: 76,270,413 (GRCm39) |
D167A |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,665,498 (GRCm39) |
T158A |
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 |
|
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'- TGAAATCTGGGGTTGCAAATG -3'
(R):5'- CTGAAGAAAATGGTCACCAGC -3'
Sequencing Primer
(F):5'- AATGTTCCATTCACAAATGTTCCTGC -3'
(R):5'- CCAGCAAGGTTTCAAACAAGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation