Incidental Mutation 'R6348:Ifi213'
ID |
514429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi213
|
Ensembl Gene |
ENSMUSG00000073491 |
Gene Name |
interferon activated gene 213 |
Synonyms |
Pyr-A, Pydc4, E030037K03Rik |
MMRRC Submission |
044502-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R6348 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
173393849-173426840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 173417848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 188
(T188I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097462]
[ENSMUST00000150649]
[ENSMUST00000180215]
|
AlphaFold |
D3Z5G0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097462
|
SMART Domains |
Protein: ENSMUSP00000095070 Gene: ENSMUSG00000073491
Domain | Start | End | E-Value | Type |
PYRIN
|
10 |
88 |
3.71e-20 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150649
AA Change: T188I
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117222 Gene: ENSMUSG00000073491 AA Change: T188I
Domain | Start | End | E-Value | Type |
PYRIN
|
10 |
88 |
3.71e-20 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180215
|
SMART Domains |
Protein: ENSMUSP00000136238 Gene: ENSMUSG00000073491
Domain | Start | End | E-Value | Type |
PYRIN
|
10 |
88 |
3.71e-20 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
probably benign |
Het |
|
Other mutations in Ifi213 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00678:Ifi213
|
APN |
1 |
173,421,619 (GRCm39) |
splice site |
probably benign |
|
IGL00908:Ifi213
|
APN |
1 |
173,422,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00964:Ifi213
|
APN |
1 |
173,421,518 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02217:Ifi213
|
APN |
1 |
173,422,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0709:Ifi213
|
UTSW |
1 |
173,417,366 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1518:Ifi213
|
UTSW |
1 |
173,417,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R1559:Ifi213
|
UTSW |
1 |
173,394,784 (GRCm39) |
missense |
probably benign |
0.18 |
R1822:Ifi213
|
UTSW |
1 |
173,417,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R1839:Ifi213
|
UTSW |
1 |
173,417,166 (GRCm39) |
missense |
probably damaging |
0.98 |
R1989:Ifi213
|
UTSW |
1 |
173,396,374 (GRCm39) |
critical splice donor site |
probably null |
|
R2108:Ifi213
|
UTSW |
1 |
173,396,668 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2696:Ifi213
|
UTSW |
1 |
173,417,590 (GRCm39) |
missense |
probably benign |
|
R3890:Ifi213
|
UTSW |
1 |
173,394,822 (GRCm39) |
missense |
probably benign |
0.33 |
R4544:Ifi213
|
UTSW |
1 |
173,409,693 (GRCm39) |
splice site |
probably null |
|
R4611:Ifi213
|
UTSW |
1 |
173,417,480 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4689:Ifi213
|
UTSW |
1 |
173,417,986 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4710:Ifi213
|
UTSW |
1 |
173,394,738 (GRCm39) |
utr 3 prime |
probably benign |
|
R5126:Ifi213
|
UTSW |
1 |
173,417,581 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5472:Ifi213
|
UTSW |
1 |
173,394,838 (GRCm39) |
splice site |
probably null |
|
R5625:Ifi213
|
UTSW |
1 |
173,396,629 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5789:Ifi213
|
UTSW |
1 |
173,396,360 (GRCm39) |
splice site |
probably benign |
|
R5898:Ifi213
|
UTSW |
1 |
173,396,545 (GRCm39) |
missense |
probably benign |
0.01 |
R6025:Ifi213
|
UTSW |
1 |
173,422,800 (GRCm39) |
missense |
probably damaging |
0.99 |
R6149:Ifi213
|
UTSW |
1 |
173,421,581 (GRCm39) |
missense |
probably benign |
0.18 |
R6564:Ifi213
|
UTSW |
1 |
173,422,862 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
R7254:Ifi213
|
UTSW |
1 |
173,421,529 (GRCm39) |
missense |
probably damaging |
0.98 |
R7292:Ifi213
|
UTSW |
1 |
173,422,691 (GRCm39) |
missense |
probably damaging |
0.99 |
R7752:Ifi213
|
UTSW |
1 |
173,394,784 (GRCm39) |
missense |
probably benign |
0.18 |
R7901:Ifi213
|
UTSW |
1 |
173,394,784 (GRCm39) |
missense |
probably benign |
0.18 |
R8100:Ifi213
|
UTSW |
1 |
173,422,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R8352:Ifi213
|
UTSW |
1 |
173,422,835 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8425:Ifi213
|
UTSW |
1 |
173,417,426 (GRCm39) |
missense |
probably benign |
|
R8452:Ifi213
|
UTSW |
1 |
173,422,835 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9357:Ifi213
|
UTSW |
1 |
173,396,392 (GRCm39) |
missense |
probably benign |
0.01 |
RF010:Ifi213
|
UTSW |
1 |
173,409,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGAGTCATCTGAGTGGCC -3'
(R):5'- CAGGAAAGCAAAGATACTATCCCTG -3'
Sequencing Primer
(F):5'- AGTCATCTGAGTGGCCTGGAC -3'
(R):5'- TATCCCTGAATCACCTGATACCATG -3'
|
Posted On |
2018-04-27 |