Incidental Mutation 'IGL01821:Ifi214'
| ID |
154535 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifi214
|
| Ensembl Gene |
ENSMUSG00000070501 |
| Gene Name |
interferon activated gene 214 |
| Synonyms |
BC094916, Pyhin-B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173348877-173363523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173356891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 71
(I71V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090406]
[ENSMUST00000097463]
[ENSMUST00000139092]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090406
AA Change: I71V
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087888
Gene: ENSMUSG00000070501
AA Change: I71V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
5.01e-17 |
SMART |
|
low complexity region
|
152 |
169 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
231 |
393 |
9.1e-71 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097463
AA Change: I71V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095071
Gene: ENSMUSG00000070501
AA Change: I71V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
5.01e-17 |
SMART |
|
low complexity region
|
152 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139092
AA Change: I71V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115105
Gene: ENSMUSG00000070501
AA Change: I71V
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
5.01e-17 |
SMART |
|
low complexity region
|
152 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195022
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is a member of the PAAD/DAPIN/Pyrin domain family of proteins. However, compared to the related pyrin and HIN domain family, member 1 (Pyhin1) protein, this protein is C-terminally truncated and lacks a HIN domain, which has an unknown function. It is therefore possible that this gene represents a pseudogene of the Pyhin1 gene, but it is currently being retained as a functional protein-coding gene based on the presence of an intact PAAD/DAPIN/Pyrin domain. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
probably damaging |
Het |
|
| Other mutations in Ifi214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Ifi214
|
APN |
1 |
173,356,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01418:Ifi214
|
APN |
1 |
173,356,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03341:Ifi214
|
APN |
1 |
173,354,082 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4305001:Ifi214
|
UTSW |
1 |
173,355,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1908:Ifi214
|
UTSW |
1 |
173,357,077 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4239:Ifi214
|
UTSW |
1 |
173,352,509 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4731:Ifi214
|
UTSW |
1 |
173,354,157 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4732:Ifi214
|
UTSW |
1 |
173,354,157 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4733:Ifi214
|
UTSW |
1 |
173,354,157 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5171:Ifi214
|
UTSW |
1 |
173,354,200 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5531:Ifi214
|
UTSW |
1 |
173,352,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Ifi214
|
UTSW |
1 |
173,356,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Ifi214
|
UTSW |
1 |
173,352,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Ifi214
|
UTSW |
1 |
173,357,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7290:Ifi214
|
UTSW |
1 |
173,357,097 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7765:Ifi214
|
UTSW |
1 |
173,352,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8712:Ifi214
|
UTSW |
1 |
173,355,486 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8807:Ifi214
|
UTSW |
1 |
173,354,133 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9144:Ifi214
|
UTSW |
1 |
173,355,434 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9452:Ifi214
|
UTSW |
1 |
173,356,894 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9534:Ifi214
|
UTSW |
1 |
173,354,092 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9721:Ifi214
|
UTSW |
1 |
173,355,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-02-04 |
Incidental Mutation