Incidental Mutation 'R2379:Ifi204'
| ID |
248367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi204
|
| Ensembl Gene |
ENSMUSG00000073489 |
| Gene Name |
interferon activated gene 204 |
| Synonyms |
p204 |
| MMRRC Submission |
040355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R2379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173574859-173594509 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 173583559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 220
(R220*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111214]
|
| AlphaFold |
P0DOV2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111214
AA Change: R220*
|
| SMART Domains |
Protein: ENSMUSP00000106845
Gene: ENSMUSG00000073489
AA Change: R220*
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
8.33e-14 |
SMART |
|
low complexity region
|
120 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
225 |
393 |
6.2e-78 |
PFAM |
|
Pfam:HIN
|
429 |
595 |
9.8e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192414
|
| Meta Mutation Damage Score |
0.9573 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
93% (37/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
C |
11: 53,299,305 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
C |
7: 79,490,966 (GRCm39) |
T209A |
probably benign |
Het |
| Asb16 |
A |
G |
11: 102,163,357 (GRCm39) |
T116A |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,696,275 (GRCm39) |
Q1140K |
probably benign |
Het |
| Btc |
A |
T |
5: 91,524,768 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,954,717 (GRCm39) |
D860G |
possibly damaging |
Het |
| Cd177 |
G |
A |
7: 24,457,468 (GRCm39) |
T191I |
possibly damaging |
Het |
| Cngb1 |
A |
G |
8: 95,986,758 (GRCm39) |
L378P |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,490,122 (GRCm39) |
F1697S |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,138 (GRCm39) |
S1446N |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,688,443 (GRCm39) |
K154* |
probably null |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,708,335 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,496,929 (GRCm39) |
S8T |
possibly damaging |
Het |
| Mpp7 |
T |
A |
18: 7,403,345 (GRCm39) |
R322* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,412,386 (GRCm39) |
N2529S |
probably benign |
Het |
| Npr3 |
A |
G |
15: 11,883,449 (GRCm39) |
F327L |
probably damaging |
Het |
| Or12j3 |
A |
T |
7: 139,952,748 (GRCm39) |
Y258* |
probably null |
Het |
| Or14c41 |
T |
G |
7: 86,235,400 (GRCm39) |
F306V |
probably benign |
Het |
| Or14c46 |
T |
C |
7: 85,918,857 (GRCm39) |
T47A |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,052 (GRCm39) |
H107L |
probably benign |
Het |
| Or5p1 |
T |
C |
7: 107,916,499 (GRCm39) |
S133P |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,737,781 (GRCm39) |
V266E |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,211,963 (GRCm39) |
S157P |
possibly damaging |
Het |
| Pld2 |
A |
T |
11: 70,445,140 (GRCm39) |
Y580F |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,879,682 (GRCm39) |
D990V |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,066,707 (GRCm39) |
E162G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,238 (GRCm39) |
T266A |
unknown |
Het |
| Tnks1bp1 |
A |
G |
2: 84,894,182 (GRCm39) |
S1370G |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,914,395 (GRCm39) |
R99G |
probably null |
Het |
| Vmn2r13 |
T |
G |
5: 109,319,644 (GRCm39) |
E445D |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,342 (GRCm39) |
I205T |
possibly damaging |
Het |
|
| Other mutations in Ifi204 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Ifi204
|
APN |
1 |
173,587,197 (GRCm39) |
splice site |
probably benign |
|
|
IGL01922:Ifi204
|
APN |
1 |
173,589,288 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02296:Ifi204
|
APN |
1 |
173,576,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02419:Ifi204
|
APN |
1 |
173,576,946 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02505:Ifi204
|
APN |
1 |
173,583,220 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0938:Ifi204
|
UTSW |
1 |
173,579,311 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1363:Ifi204
|
UTSW |
1 |
173,576,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1834:Ifi204
|
UTSW |
1 |
173,575,172 (GRCm39) |
missense |
unknown |
|
|
R2031:Ifi204
|
UTSW |
1 |
173,580,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Ifi204
|
UTSW |
1 |
173,589,296 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2408:Ifi204
|
UTSW |
1 |
173,583,198 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3011:Ifi204
|
UTSW |
1 |
173,579,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3617:Ifi204
|
UTSW |
1 |
173,583,283 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3894:Ifi204
|
UTSW |
1 |
173,576,774 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3916:Ifi204
|
UTSW |
1 |
173,583,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4656:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4657:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4694:Ifi204
|
UTSW |
1 |
173,576,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4703:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4704:Ifi204
|
UTSW |
1 |
173,587,927 (GRCm39) |
intron |
probably benign |
|
|
R4894:Ifi204
|
UTSW |
1 |
173,587,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4947:Ifi204
|
UTSW |
1 |
173,583,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5023:Ifi204
|
UTSW |
1 |
173,579,306 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5036:Ifi204
|
UTSW |
1 |
173,580,311 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5119:Ifi204
|
UTSW |
1 |
173,583,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:Ifi204
|
UTSW |
1 |
173,576,910 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5762:Ifi204
|
UTSW |
1 |
173,580,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6063:Ifi204
|
UTSW |
1 |
173,579,223 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6808:Ifi204
|
UTSW |
1 |
173,589,269 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7311:Ifi204
|
UTSW |
1 |
173,587,134 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7338:Ifi204
|
UTSW |
1 |
173,587,703 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7430:Ifi204
|
UTSW |
1 |
173,583,247 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7528:Ifi204
|
UTSW |
1 |
173,579,406 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7985:Ifi204
|
UTSW |
1 |
173,587,772 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8021:Ifi204
|
UTSW |
1 |
173,586,919 (GRCm39) |
intron |
probably benign |
|
|
R8137:Ifi204
|
UTSW |
1 |
173,589,188 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8141:Ifi204
|
UTSW |
1 |
173,583,189 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8191:Ifi204
|
UTSW |
1 |
173,579,226 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8487:Ifi204
|
UTSW |
1 |
173,587,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9075:Ifi204
|
UTSW |
1 |
173,589,282 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9124:Ifi204
|
UTSW |
1 |
173,579,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9311:Ifi204
|
UTSW |
1 |
173,589,215 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9498:Ifi204
|
UTSW |
1 |
173,583,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9712:Ifi204
|
UTSW |
1 |
173,576,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ifi204
|
UTSW |
1 |
173,579,194 (GRCm39) |
missense |
probably null |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCTCCAGGATGCCTTTGC -3'
(R):5'- GCCTTTTGGTCAACTAAAGAATTCC -3'
Sequencing Primer
(F):5'- TGCTCTCAAAGTAATTGGATATGATG -3'
(R):5'- GGTCAACTAAAGAATTCCTGTTTAGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation