Incidental Mutation 'IGL00964:Ifi213'
| ID |
26730 |
| 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: 0.060)
|
| Stock # |
IGL00964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173393849-173426840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173421518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 124
(T124S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097462]
[ENSMUST00000150649]
[ENSMUST00000180215]
|
| AlphaFold |
D3Z5G0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097462
AA Change: T124S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095070
Gene: ENSMUSG00000073491
AA Change: T124S
| 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: T124S
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117222
Gene: ENSMUSG00000073491
AA Change: T124S
| 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: T124S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136238
Gene: ENSMUSG00000073491
AA Change: T124S
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
T |
A |
7: 44,009,610 (GRCm39) |
*197C |
probably null |
Het |
| Acsl6 |
A |
G |
11: 54,216,472 (GRCm39) |
Y213C |
probably damaging |
Het |
| Agt |
T |
C |
8: 125,284,634 (GRCm39) |
|
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,318,228 (GRCm39) |
D144G |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,432,330 (GRCm39) |
I32V |
probably benign |
Het |
| Astn2 |
T |
A |
4: 66,103,424 (GRCm39) |
M330L |
unknown |
Het |
| AU040320 |
T |
A |
4: 126,748,199 (GRCm39) |
C1029* |
probably null |
Het |
| Brca2 |
T |
A |
5: 150,455,775 (GRCm39) |
I172N |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,343 (GRCm39) |
I170T |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,800,765 (GRCm39) |
|
probably null |
Het |
| Dusp26 |
G |
T |
8: 31,584,136 (GRCm39) |
R81L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,174,881 (GRCm39) |
|
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,958,163 (GRCm39) |
C141R |
probably benign |
Het |
| Ftsj3 |
G |
T |
11: 106,143,941 (GRCm39) |
A261D |
probably benign |
Het |
| Gm5431 |
G |
A |
11: 48,780,094 (GRCm39) |
T554I |
probably damaging |
Het |
| Hyls1 |
A |
G |
9: 35,473,408 (GRCm39) |
|
probably benign |
Het |
| Ints10 |
T |
A |
8: 69,264,638 (GRCm39) |
I457N |
probably damaging |
Het |
| Klk1b1 |
T |
G |
7: 43,620,593 (GRCm39) |
S228A |
possibly damaging |
Het |
| Lpar2 |
T |
C |
8: 70,279,162 (GRCm39) |
S319P |
probably benign |
Het |
| Lsr |
T |
C |
7: 30,671,421 (GRCm39) |
N104S |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,604 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,532,796 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
G |
A |
2: 144,147,599 (GRCm39) |
A217V |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,784 (GRCm39) |
Q447L |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,335,726 (GRCm39) |
I453T |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,916,793 (GRCm39) |
W1037* |
probably null |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,740,802 (GRCm39) |
I2995T |
probably benign |
Het |
| Slamf6 |
T |
A |
1: 171,745,347 (GRCm39) |
C25S |
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,347,527 (GRCm39) |
Q229H |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,248,714 (GRCm39) |
N520T |
probably damaging |
Het |
| Spr-ps1 |
C |
A |
6: 85,132,016 (GRCm39) |
|
noncoding transcript |
Het |
| Stx4a |
A |
G |
7: 127,441,898 (GRCm39) |
Q92R |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,785,837 (GRCm39) |
V638G |
probably benign |
Het |
| Trim41 |
C |
A |
11: 48,703,190 (GRCm39) |
R79S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 85,896,057 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,404,203 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,762,756 (GRCm39) |
L220Q |
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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation