Incidental Mutation 'IGL02637:Ifi208'
| ID |
301543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifi208
|
| Ensembl Gene |
ENSMUSG00000066677 |
| Gene Name |
interferon activated gene 208 |
| Synonyms |
Pydc3, E430029J22Rik, Pyr-rv1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173501241-173525961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 173506508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 97
(T97I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085876]
[ENSMUST00000169857]
|
| AlphaFold |
Q3V3Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085876
AA Change: T97I
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083039
Gene: ENSMUSG00000066677
AA Change: T97I
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
10 |
88 |
3.23e-20 |
SMART |
|
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
504 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169857
AA Change: T97I
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128958
Gene: ENSMUSG00000066677
AA Change: T97I
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
10 |
88 |
3.23e-20 |
SMART |
|
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
222 |
N/A |
INTRINSIC |
|
Pfam:HERV-K_REC
|
502 |
580 |
3.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182880
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,309,907 (GRCm39) |
Y435C |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,460,143 (GRCm39) |
|
probably benign |
Het |
| Ampd1 |
T |
C |
3: 103,002,199 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
G |
A |
1: 193,030,696 (GRCm39) |
P338S |
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,959,636 (GRCm39) |
|
probably benign |
Het |
| Crat |
A |
G |
2: 30,296,401 (GRCm39) |
V355A |
probably benign |
Het |
| Ctla2a |
T |
A |
13: 61,083,899 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,656,227 (GRCm39) |
|
probably benign |
Het |
| Efhb |
A |
G |
17: 53,756,580 (GRCm39) |
I357T |
probably benign |
Het |
| Fh1 |
T |
C |
1: 175,437,332 (GRCm39) |
M256V |
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,384,775 (GRCm39) |
I262T |
probably damaging |
Het |
| Gata2 |
C |
T |
6: 88,181,558 (GRCm39) |
|
probably benign |
Het |
| Gm6356 |
A |
G |
14: 6,970,926 (GRCm38) |
V178A |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,362,458 (GRCm39) |
E63G |
probably damaging |
Het |
| Hid1 |
A |
T |
11: 115,241,421 (GRCm39) |
I623N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,452 (GRCm39) |
K1017E |
possibly damaging |
Het |
| Ighg1 |
T |
C |
12: 113,293,132 (GRCm39) |
H186R |
unknown |
Het |
| Igkv8-26 |
T |
C |
6: 70,170,642 (GRCm39) |
S78P |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,637,617 (GRCm39) |
N514S |
probably benign |
Het |
| Kcnj16 |
A |
T |
11: 110,916,439 (GRCm39) |
D367V |
probably benign |
Het |
| Klhl23 |
A |
T |
2: 69,659,258 (GRCm39) |
R428* |
probably null |
Het |
| Lgmn |
T |
C |
12: 102,366,485 (GRCm39) |
E216G |
probably damaging |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
C |
T |
19: 3,680,269 (GRCm39) |
G405D |
probably benign |
Het |
| Lrrc74a |
C |
T |
12: 86,788,521 (GRCm39) |
R53* |
probably null |
Het |
| Lsm12 |
G |
A |
11: 102,054,948 (GRCm39) |
R123C |
probably benign |
Het |
| Marchf5 |
T |
A |
19: 37,198,033 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
C |
A |
12: 111,559,090 (GRCm39) |
A44D |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,685,003 (GRCm39) |
N522I |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,455,045 (GRCm39) |
R2611S |
possibly damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,482 (GRCm39) |
|
noncoding transcript |
Het |
| Npnt |
T |
A |
3: 132,590,271 (GRCm39) |
I507F |
possibly damaging |
Het |
| Or51a7 |
G |
A |
7: 102,622,250 (GRCm39) |
|
probably benign |
Het |
| Pde4a |
T |
A |
9: 21,112,628 (GRCm39) |
L91Q |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,385,720 (GRCm39) |
V1017M |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,427,720 (GRCm39) |
N3259S |
probably damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,048,260 (GRCm39) |
H683Q |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,898,009 (GRCm39) |
S96T |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,089,704 (GRCm39) |
K347E |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,526 (GRCm39) |
V73A |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,979,378 (GRCm39) |
D246G |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,080,327 (GRCm39) |
T1273I |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,355,330 (GRCm39) |
M49L |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,859,728 (GRCm39) |
|
probably null |
Het |
| Surf2 |
A |
G |
2: 26,809,790 (GRCm39) |
K247E |
probably damaging |
Het |
| Sys1 |
G |
A |
2: 164,303,312 (GRCm39) |
V9M |
possibly damaging |
Het |
| Tcf4 |
G |
A |
18: 69,480,421 (GRCm39) |
D18N |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,658,416 (GRCm39) |
V773D |
possibly damaging |
Het |
| Trappc13 |
T |
C |
13: 104,286,570 (GRCm39) |
Q229R |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,984,099 (GRCm39) |
E481G |
probably benign |
Het |
| Xpo5 |
C |
A |
17: 46,546,905 (GRCm39) |
D885E |
probably damaging |
Het |
|
| Other mutations in Ifi208 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Ifi208
|
APN |
1 |
173,506,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00725:Ifi208
|
APN |
1 |
173,510,427 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01952:Ifi208
|
APN |
1 |
173,506,597 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02024:Ifi208
|
APN |
1 |
173,510,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02829:Ifi208
|
APN |
1 |
173,510,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03216:Ifi208
|
APN |
1 |
173,506,507 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03398:Ifi208
|
APN |
1 |
173,510,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
FR4304:Ifi208
|
UTSW |
1 |
173,505,264 (GRCm39) |
small deletion |
probably benign |
|
|
FR4340:Ifi208
|
UTSW |
1 |
173,505,264 (GRCm39) |
small deletion |
probably benign |
|
|
FR4342:Ifi208
|
UTSW |
1 |
173,505,264 (GRCm39) |
small deletion |
probably benign |
|
|
R0022:Ifi208
|
UTSW |
1 |
173,510,612 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0468:Ifi208
|
UTSW |
1 |
173,511,047 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0734:Ifi208
|
UTSW |
1 |
173,510,901 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0780:Ifi208
|
UTSW |
1 |
173,510,262 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1070:Ifi208
|
UTSW |
1 |
173,510,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1339:Ifi208
|
UTSW |
1 |
173,510,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1473:Ifi208
|
UTSW |
1 |
173,523,220 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1755:Ifi208
|
UTSW |
1 |
173,505,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3012:Ifi208
|
UTSW |
1 |
173,523,136 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3692:Ifi208
|
UTSW |
1 |
173,510,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4175:Ifi208
|
UTSW |
1 |
173,510,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4235:Ifi208
|
UTSW |
1 |
173,510,477 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4749:Ifi208
|
UTSW |
1 |
173,523,180 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4815:Ifi208
|
UTSW |
1 |
173,510,403 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5116:Ifi208
|
UTSW |
1 |
173,505,549 (GRCm39) |
intron |
probably benign |
|
|
R5138:Ifi208
|
UTSW |
1 |
173,518,239 (GRCm39) |
missense |
probably null |
0.29 |
|
R5210:Ifi208
|
UTSW |
1 |
173,510,831 (GRCm39) |
missense |
probably benign |
|
|
R5304:Ifi208
|
UTSW |
1 |
173,511,174 (GRCm39) |
missense |
probably benign |
|
|
R6126:Ifi208
|
UTSW |
1 |
173,505,274 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6558:Ifi208
|
UTSW |
1 |
173,510,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6915:Ifi208
|
UTSW |
1 |
173,510,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Ifi208
|
UTSW |
1 |
173,523,220 (GRCm39) |
nonsense |
probably null |
|
|
R7972:Ifi208
|
UTSW |
1 |
173,506,556 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8143:Ifi208
|
UTSW |
1 |
173,510,242 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8383:Ifi208
|
UTSW |
1 |
173,511,075 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8431:Ifi208
|
UTSW |
1 |
173,510,844 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8794:Ifi208
|
UTSW |
1 |
173,523,370 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8823:Ifi208
|
UTSW |
1 |
173,511,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8849:Ifi208
|
UTSW |
1 |
173,506,184 (GRCm39) |
intron |
probably benign |
|
|
R9127:Ifi208
|
UTSW |
1 |
173,523,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9225:Ifi208
|
UTSW |
1 |
173,518,294 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9336:Ifi208
|
UTSW |
1 |
173,510,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9487:Ifi208
|
UTSW |
1 |
173,510,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF027:Ifi208
|
UTSW |
1 |
173,505,262 (GRCm39) |
small deletion |
probably benign |
|
|
RF029:Ifi208
|
UTSW |
1 |
173,505,262 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation