Incidental Mutation 'IGL02217:Ifi213'
| ID |
284954 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifi213
|
| Ensembl Gene |
ENSMUSG00000073491 |
| Gene Name |
interferon activated gene 213 |
| Synonyms |
Pyr-A, Pydc4, E030037K03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL02217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173393849-173426840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 173422598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 89
(E89A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097462]
[ENSMUST00000150649]
[ENSMUST00000180215]
|
| AlphaFold |
D3Z5G0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097462
AA Change: E89A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095070
Gene: ENSMUSG00000073491
AA Change: E89A
| 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: ENSMUST00000150649
AA Change: E89A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117222
Gene: ENSMUSG00000073491
AA Change: E89A
| 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: ENSMUST00000180215
AA Change: E89A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136238
Gene: ENSMUSG00000073491
AA Change: E89A
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
10 |
88 |
3.71e-20 |
SMART |
|
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,603,955 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,220,868 (GRCm39) |
Q647* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,598,873 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,535,881 (GRCm39) |
T1389I |
possibly damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,177,059 (GRCm39) |
|
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,667,757 (GRCm39) |
T405S |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,018,495 (GRCm39) |
V1168M |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,889,132 (GRCm39) |
S1494P |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,213,541 (GRCm39) |
T758S |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,261,484 (GRCm39) |
M247K |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,305,953 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
T |
A |
4: 86,732,036 (GRCm39) |
C917S |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,713,221 (GRCm39) |
Y166* |
probably null |
Het |
| Dtl |
A |
G |
1: 191,300,426 (GRCm39) |
V146A |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,606,893 (GRCm39) |
E20G |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,960 (GRCm39) |
K437R |
probably benign |
Het |
| Fkbp6 |
A |
T |
5: 135,366,484 (GRCm39) |
V284E |
probably benign |
Het |
| Foxq1 |
A |
T |
13: 31,743,152 (GRCm39) |
S85C |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,113,832 (GRCm39) |
S83R |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,825,673 (GRCm39) |
D630G |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,466,471 (GRCm39) |
|
probably null |
Het |
| Hemgn |
G |
T |
4: 46,396,420 (GRCm39) |
T272K |
probably damaging |
Het |
| Jarid2 |
A |
G |
13: 45,066,677 (GRCm39) |
E954G |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,348,212 (GRCm39) |
D126G |
probably damaging |
Het |
| Lbh |
A |
T |
17: 73,228,247 (GRCm39) |
I31F |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,503,697 (GRCm39) |
|
probably benign |
Het |
| Mdfic2 |
T |
A |
6: 98,225,033 (GRCm39) |
E83D |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,889 (GRCm39) |
E490G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,266 (GRCm39) |
S686P |
probably damaging |
Het |
| Nme4 |
A |
G |
17: 26,312,834 (GRCm39) |
M108T |
probably damaging |
Het |
| Nod1 |
A |
C |
6: 54,920,404 (GRCm39) |
V638G |
possibly damaging |
Het |
| Nrip2 |
A |
G |
6: 128,383,502 (GRCm39) |
N70S |
probably damaging |
Het |
| Or2bd2 |
T |
A |
7: 6,443,244 (GRCm39) |
I115N |
probably damaging |
Het |
| Or5as1 |
A |
G |
2: 86,980,231 (GRCm39) |
M258T |
probably benign |
Het |
| Pitrm1 |
G |
A |
13: 6,617,377 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,378,912 (GRCm39) |
K115E |
probably damaging |
Het |
| Ptov1 |
C |
T |
7: 44,516,900 (GRCm39) |
G70R |
probably damaging |
Het |
| Qtrt1 |
T |
G |
9: 21,328,685 (GRCm39) |
|
probably null |
Het |
| Rbbp8nl |
A |
G |
2: 179,919,981 (GRCm39) |
|
probably benign |
Het |
| Rplp1rt |
A |
T |
19: 12,824,227 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn3 |
G |
A |
19: 7,412,449 (GRCm39) |
T794I |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,390,183 (GRCm39) |
L82P |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,838,784 (GRCm39) |
L27F |
possibly damaging |
Het |
| Srpk2 |
A |
C |
5: 23,750,568 (GRCm39) |
V45G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,627,303 (GRCm39) |
F57S |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,851,196 (GRCm39) |
T1255P |
probably damaging |
Het |
| Vmn2r16 |
A |
C |
5: 109,487,676 (GRCm39) |
H183P |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,738,601 (GRCm39) |
I286T |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation