Incidental Mutation 'R4845:Ifi203'
| ID |
372084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi203
|
| Ensembl Gene |
ENSMUSG00000039997 |
| Gene Name |
interferon activated gene 203 |
| Synonyms |
|
| MMRRC Submission |
042458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R4845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 173754595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 298
(M298K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042228]
[ENSMUST00000081216]
[ENSMUST00000111210]
[ENSMUST00000123708]
[ENSMUST00000129829]
[ENSMUST00000156895]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042228
AA Change: M298K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: M298K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
|
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
251 |
418 |
1.5e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081216
AA Change: M250K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
AA Change: M250K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
|
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
183 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
203 |
370 |
1.3e-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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123708
AA Change: M250K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
AA Change: M250K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
|
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
183 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
203 |
370 |
1.3e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128430
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129829
AA Change: M712K
|
| SMART Domains |
Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: M712K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
|
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
665 |
831 |
7.2e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135331
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156895
AA Change: M298K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: M298K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
1.01e-21 |
SMART |
|
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
Pfam:HIN
|
251 |
418 |
1.5e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,333,057 (GRCm39) |
S600F |
possibly damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,885,998 (GRCm39) |
N393I |
probably damaging |
Het |
| Atp5pf |
T |
A |
16: 84,628,365 (GRCm39) |
I6F |
possibly damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,517 (GRCm39) |
L337S |
probably benign |
Het |
| C8b |
G |
T |
4: 104,649,009 (GRCm39) |
V308F |
possibly damaging |
Het |
| Cables1 |
A |
G |
18: 12,077,545 (GRCm39) |
R558G |
probably damaging |
Het |
| Chmp2b |
T |
A |
16: 65,347,862 (GRCm39) |
Q38L |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,531,031 (GRCm39) |
I773K |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,899,448 (GRCm39) |
T2A |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,170,772 (GRCm39) |
D812N |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,832,692 (GRCm39) |
D3901E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,232,208 (GRCm39) |
V3445A |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,096,908 (GRCm39) |
I230N |
possibly damaging |
Het |
| Exoc6b |
G |
T |
6: 84,812,119 (GRCm39) |
D627E |
probably benign |
Het |
| Exosc1 |
T |
C |
19: 41,919,797 (GRCm39) |
K74E |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,315,024 (GRCm39) |
T53A |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,533,912 (GRCm39) |
R17H |
probably damaging |
Het |
| Faxc |
G |
T |
4: 21,993,358 (GRCm39) |
W334L |
probably damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,246,833 (GRCm39) |
I94T |
probably damaging |
Het |
| Igkv4-78 |
A |
T |
6: 69,037,207 (GRCm39) |
M1K |
probably null |
Het |
| Iqcm |
G |
T |
8: 76,472,980 (GRCm39) |
R273I |
probably damaging |
Het |
| Itga1 |
G |
T |
13: 115,110,708 (GRCm39) |
S961* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,576,246 (GRCm39) |
M886L |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,585 (GRCm39) |
T1109A |
possibly damaging |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Mettl14 |
T |
A |
3: 123,165,004 (GRCm39) |
E112V |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Musk |
A |
G |
4: 58,296,679 (GRCm39) |
D93G |
probably damaging |
Het |
| Myoc |
C |
T |
1: 162,475,034 (GRCm39) |
T195M |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,404,208 (GRCm39) |
D893G |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,339,902 (GRCm39) |
V908M |
probably benign |
Het |
| Or4a79 |
T |
C |
2: 89,552,120 (GRCm39) |
I112V |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,588,570 (GRCm39) |
V279A |
possibly damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,836 (GRCm39) |
L29* |
probably null |
Het |
| Orc4 |
T |
C |
2: 48,799,478 (GRCm39) |
N333S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
G |
A |
18: 37,489,771 (GRCm39) |
G483D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,729,132 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
A |
T |
6: 57,499,753 (GRCm39) |
Y174* |
probably null |
Het |
| Ptprq |
A |
T |
10: 107,489,393 (GRCm39) |
S911T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,419,451 (GRCm39) |
A554S |
probably benign |
Het |
| Sema3f |
T |
C |
9: 107,562,700 (GRCm39) |
Y427C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,146 (GRCm39) |
I573F |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,060,601 (GRCm39) |
Y201F |
probably damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,733,803 (GRCm38) |
H71L |
probably damaging |
Het |
| Spata6l |
G |
T |
19: 28,905,148 (GRCm39) |
D305E |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Tab1 |
C |
T |
15: 80,036,964 (GRCm39) |
R217W |
probably damaging |
Het |
| Taf6 |
T |
A |
5: 138,180,909 (GRCm39) |
Y224F |
possibly damaging |
Het |
| Tmc5 |
C |
G |
7: 118,241,604 (GRCm39) |
F432L |
probably damaging |
Het |
| Trbc1 |
A |
T |
6: 41,516,169 (GRCm39) |
|
probably benign |
Het |
| Trbv21 |
A |
G |
6: 41,179,879 (GRCm39) |
N65S |
probably benign |
Het |
| Trim15 |
G |
A |
17: 37,177,875 (GRCm39) |
P40L |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,466,916 (GRCm39) |
S197P |
probably benign |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,158 (GRCm39) |
Q286L |
probably benign |
Het |
| Wnt9a |
A |
G |
11: 59,222,067 (GRCm39) |
I322V |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,724,672 (GRCm39) |
E128G |
probably damaging |
Het |
|
| Other mutations in Ifi203 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Ifi203
|
APN |
1 |
173,765,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02598:Ifi203
|
APN |
1 |
173,762,568 (GRCm39) |
splice site |
probably benign |
|
|
IGL03172:Ifi203
|
APN |
1 |
173,764,158 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03334:Ifi203
|
APN |
1 |
173,765,401 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Ifi203
|
UTSW |
1 |
173,755,894 (GRCm39) |
intron |
probably benign |
|
|
R0593:Ifi203
|
UTSW |
1 |
173,756,215 (GRCm39) |
intron |
probably benign |
|
|
R0827:Ifi203
|
UTSW |
1 |
173,756,029 (GRCm39) |
intron |
probably benign |
|
|
R1163:Ifi203
|
UTSW |
1 |
173,751,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1769:Ifi203
|
UTSW |
1 |
173,756,326 (GRCm39) |
nonsense |
probably null |
|
|
R3415:Ifi203
|
UTSW |
1 |
173,756,326 (GRCm39) |
nonsense |
probably null |
|
|
R3737:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
|
R3738:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
|
R3739:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
|
R3791:Ifi203
|
UTSW |
1 |
173,762,646 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3847:Ifi203
|
UTSW |
1 |
173,761,362 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4035:Ifi203
|
UTSW |
1 |
173,757,040 (GRCm39) |
intron |
probably benign |
|
|
R4156:Ifi203
|
UTSW |
1 |
173,764,106 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4164:Ifi203
|
UTSW |
1 |
173,756,029 (GRCm39) |
intron |
probably benign |
|
|
R4171:Ifi203
|
UTSW |
1 |
173,761,341 (GRCm39) |
splice site |
probably benign |
|
|
R4200:Ifi203
|
UTSW |
1 |
173,751,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4233:Ifi203
|
UTSW |
1 |
173,764,099 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4880:Ifi203
|
UTSW |
1 |
173,756,716 (GRCm39) |
intron |
probably benign |
|
|
R5071:Ifi203
|
UTSW |
1 |
173,762,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5108:Ifi203
|
UTSW |
1 |
173,751,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5284:Ifi203
|
UTSW |
1 |
173,756,274 (GRCm39) |
intron |
probably benign |
|
|
R5335:Ifi203
|
UTSW |
1 |
173,754,485 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6198:Ifi203
|
UTSW |
1 |
173,751,648 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6236:Ifi203
|
UTSW |
1 |
173,761,479 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6397:Ifi203
|
UTSW |
1 |
173,754,770 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6929:Ifi203
|
UTSW |
1 |
173,756,340 (GRCm39) |
intron |
probably benign |
|
|
R7025:Ifi203
|
UTSW |
1 |
173,755,951 (GRCm39) |
intron |
probably benign |
|
|
R7149:Ifi203
|
UTSW |
1 |
173,756,494 (GRCm39) |
missense |
unknown |
|
|
R7320:Ifi203
|
UTSW |
1 |
173,756,733 (GRCm39) |
missense |
unknown |
|
|
R7631:Ifi203
|
UTSW |
1 |
173,754,688 (GRCm39) |
missense |
unknown |
|
|
R7913:Ifi203
|
UTSW |
1 |
173,754,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Ifi203
|
UTSW |
1 |
173,756,266 (GRCm39) |
missense |
unknown |
|
|
R8297:Ifi203
|
UTSW |
1 |
173,765,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8537:Ifi203
|
UTSW |
1 |
173,756,472 (GRCm39) |
intron |
probably benign |
|
|
R8919:Ifi203
|
UTSW |
1 |
173,756,494 (GRCm39) |
missense |
unknown |
|
|
R8936:Ifi203
|
UTSW |
1 |
173,756,857 (GRCm39) |
intron |
probably benign |
|
|
R9081:Ifi203
|
UTSW |
1 |
173,757,048 (GRCm39) |
missense |
unknown |
|
|
R9223:Ifi203
|
UTSW |
1 |
173,765,437 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9255:Ifi203
|
UTSW |
1 |
173,756,787 (GRCm39) |
missense |
unknown |
|
|
R9351:Ifi203
|
UTSW |
1 |
173,750,133 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9397:Ifi203
|
UTSW |
1 |
173,765,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9506:Ifi203
|
UTSW |
1 |
173,751,565 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9586:Ifi203
|
UTSW |
1 |
173,754,623 (GRCm39) |
nonsense |
probably null |
|
|
R9598:Ifi203
|
UTSW |
1 |
173,751,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ifi203
|
UTSW |
1 |
173,756,147 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCCCCTTTGCTTGTGAGAG -3'
(R):5'- GTTTTGTGTAGGCACCAAGGAG -3'
Sequencing Primer
(F):5'- CCCCTTTGCTTGTGAGAGAAGATAAG -3'
(R):5'- GGAACTGTACCAAAGGAGCCTTC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation