Incidental Mutation 'R9357:Ifi213'
| ID |
708442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi213
|
| Ensembl Gene |
ENSMUSG00000073491 |
| Gene Name |
interferon activated gene 213 |
| Synonyms |
Pyr-A, Pydc4, E030037K03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173393849-173426840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173396392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 561
(M561L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000150649]
|
| AlphaFold |
D3Z5G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150649
AA Change: M561L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000117222
Gene: ENSMUSG00000073491
AA Change: M561L
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
10 |
88 |
3.71e-20 |
SMART |
|
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,696 (GRCm39) |
V900A |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,879,479 (GRCm39) |
A190T |
probably benign |
Het |
| Ager |
T |
C |
17: 34,817,541 (GRCm39) |
V116A |
probably damaging |
Het |
| Agt |
G |
T |
8: 125,291,065 (GRCm39) |
H81N |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,146,872 (GRCm39) |
V642A |
probably damaging |
Het |
| Atg4b |
C |
T |
1: 93,713,648 (GRCm39) |
T325M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,150,711 (GRCm39) |
S1470G |
probably benign |
Het |
| Cacul1 |
A |
G |
19: 60,533,942 (GRCm39) |
I220T |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,671,136 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
C |
19: 43,429,827 (GRCm39) |
D315A |
probably damaging |
Het |
| Fbxo24 |
A |
G |
5: 137,611,096 (GRCm39) |
F565L |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,211 (GRCm39) |
S73T |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,248,889 (GRCm39) |
V384A |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,041,732 (GRCm39) |
H297L |
possibly damaging |
Het |
| Glo1 |
T |
C |
17: 30,831,518 (GRCm39) |
E3G |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,196 (GRCm39) |
D161G |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,260,814 (GRCm39) |
L971P |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,336,917 (GRCm39) |
I1285N |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,566,708 (GRCm39) |
Y2004* |
probably null |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,852,450 (GRCm39) |
D846G |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,268 (GRCm39) |
E500G |
probably damaging |
Het |
| Myo18a |
C |
T |
11: 77,733,014 (GRCm39) |
T1348M |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,093,129 (GRCm39) |
I2027N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,069,580 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 58,929,592 (GRCm39) |
R5208C |
probably damaging |
Het |
| Parg |
G |
A |
14: 31,996,874 (GRCm39) |
D827N |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,226 (GRCm39) |
H473L |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,625,645 (GRCm39) |
S1318P |
probably benign |
Het |
| Ppan |
T |
C |
9: 20,801,220 (GRCm39) |
S166P |
possibly damaging |
Het |
| Ppargc1b |
C |
A |
18: 61,448,939 (GRCm39) |
A128S |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,712,915 (GRCm39) |
D304E |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,260,448 (GRCm39) |
L435Q |
probably damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,065,333 (GRCm39) |
Y183N |
|
Het |
| Sspo |
T |
C |
6: 48,443,989 (GRCm39) |
S2166P |
possibly damaging |
Het |
| Tent5a |
A |
T |
9: 85,208,672 (GRCm39) |
N50K |
probably benign |
Het |
| Twf2 |
T |
C |
9: 106,092,100 (GRCm39) |
F319S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vmn1r3 |
T |
G |
4: 3,185,149 (GRCm39) |
T53P |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,880,428 (GRCm39) |
E86G |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,023,782 (GRCm39) |
Y530H |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,214,711 (GRCm39) |
F745L |
probably damaging |
Het |
| Xdh |
A |
C |
17: 74,233,541 (GRCm39) |
|
probably null |
Het |
| Zfp358 |
T |
C |
8: 3,545,568 (GRCm39) |
L50P |
probably damaging |
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 |
|
R6348:Ifi213
|
UTSW |
1 |
173,417,848 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
|
RF010:Ifi213
|
UTSW |
1 |
173,409,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCAATTTCCATACCCAGCA -3'
(R):5'- TCCCCAGTCTGGATTATGGAC -3'
Sequencing Primer
(F):5'- CAGTACAGCTCCTTTAAGTGCTAGG -3'
(R):5'- TATGGACAGGCTTATCAGATCAGCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation