Incidental Mutation 'IGL03258:Ifi211'
| ID |
414717 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifi211
|
| Ensembl Gene |
ENSMUSG00000026536 |
| Gene Name |
interferon activated gene 211 |
| Synonyms |
Ifi205b, Mnda |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173723911-173740612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 173733098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 188
(C188S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009340]
[ENSMUST00000111210]
|
| AlphaFold |
P0DOV1 |
| PDB Structure |
Solution structures of the PAAD_DAPIN domain of mus musculus interferon-activatable protein 205 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009340
AA Change: C188S
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000009340
Gene: ENSMUSG00000026536
AA Change: C188S
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
1.94e-14 |
SMART |
|
low complexity region
|
120 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
225 |
393 |
2.2e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111210
|
| SMART Domains |
Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
5 |
83 |
3.71e-20 |
SMART |
|
internal_repeat_1
|
152 |
166 |
2.38e-7 |
PROSPERO |
|
low complexity region
|
170 |
200 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
208 |
222 |
2.38e-7 |
PROSPERO |
|
low complexity region
|
225 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
311 |
479 |
3.4e-76 |
PFAM |
|
low complexity region
|
497 |
507 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the interferon-regulated 200 family of proteins, which contain an N-terminal pyrin domain that is proposed to function in cell death and a partially conserved 220 amino acid domain. Expression of this protein in embryonic stem cells is critical for the DNA damage response and regulation of cell survival. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
| Adam1b |
A |
G |
5: 121,639,447 (GRCm39) |
S533P |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,408 (GRCm39) |
G72C |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
| Cog1 |
G |
A |
11: 113,545,919 (GRCm39) |
W398* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
| Fam78b |
A |
T |
1: 166,906,323 (GRCm39) |
T161S |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
| Ms4a6b |
T |
G |
19: 11,499,072 (GRCm39) |
L62R |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,467,936 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
G |
15: 81,213,243 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
probably damaging |
Het |
|
| Other mutations in Ifi211 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03304:Ifi211
|
APN |
1 |
173,735,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Ifi211
|
UTSW |
1 |
173,733,769 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
BB017:Ifi211
|
UTSW |
1 |
173,733,769 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
FR4548:Ifi211
|
UTSW |
1 |
173,733,759 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1686:Ifi211
|
UTSW |
1 |
173,726,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Ifi211
|
UTSW |
1 |
173,735,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4657:Ifi211
|
UTSW |
1 |
173,735,226 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5220:Ifi211
|
UTSW |
1 |
173,735,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Ifi211
|
UTSW |
1 |
173,733,829 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6644:Ifi211
|
UTSW |
1 |
173,733,118 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6953:Ifi211
|
UTSW |
1 |
173,733,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Ifi211
|
UTSW |
1 |
173,727,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Ifi211
|
UTSW |
1 |
173,729,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Ifi211
|
UTSW |
1 |
173,727,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Ifi211
|
UTSW |
1 |
173,733,769 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8499:Ifi211
|
UTSW |
1 |
173,733,086 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9002:Ifi211
|
UTSW |
1 |
173,733,894 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9299:Ifi211
|
UTSW |
1 |
173,735,288 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9562:Ifi211
|
UTSW |
1 |
173,733,052 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1088:Ifi211
|
UTSW |
1 |
173,735,226 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2016-08-02 |
Incidental Mutation