Incidental Mutation 'R6236:Ifi203'
| ID |
504923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi203
|
| Ensembl Gene |
ENSMUSG00000039997 |
| Gene Name |
interferon activated gene 203 |
| Synonyms |
|
| MMRRC Submission |
044400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6236 (G1)
|
| Quality Score |
134.008 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173761479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 190
(V190A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122424
(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: V190A
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: V190A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
| 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 |
probably benign
Transcript: ENSMUST00000129829
AA Change: V190A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: V190A
| 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: V190A
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: V190A
| 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 |
noncoding transcript
Transcript: ENSMUST00000140143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138143
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
A |
G |
4: 155,989,664 (GRCm39) |
T703A |
possibly damaging |
Het |
| Acd |
C |
T |
8: 106,427,127 (GRCm39) |
A49T |
probably benign |
Het |
| Acer1 |
T |
A |
17: 57,262,231 (GRCm39) |
I224F |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,367,678 (GRCm39) |
D161G |
probably benign |
Het |
| Catsper4 |
T |
C |
4: 133,948,887 (GRCm39) |
I111V |
probably benign |
Het |
| Cfap210 |
A |
C |
2: 69,588,385 (GRCm39) |
|
probably null |
Het |
| Chst14 |
T |
A |
2: 118,757,997 (GRCm39) |
C264S |
probably damaging |
Het |
| Clnk |
T |
C |
5: 38,870,542 (GRCm39) |
T339A |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,045,608 (GRCm39) |
K201R |
probably benign |
Het |
| Col19a1 |
A |
G |
1: 24,319,030 (GRCm39) |
V1020A |
probably damaging |
Het |
| Cts6 |
C |
A |
13: 61,344,192 (GRCm39) |
E287* |
probably null |
Het |
| Dbf4 |
T |
C |
5: 8,448,579 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
G |
A |
14: 87,275,004 (GRCm39) |
R140* |
probably null |
Het |
| Faah |
T |
C |
4: 115,856,786 (GRCm39) |
I459V |
probably benign |
Het |
| Fbxw2 |
A |
T |
2: 34,712,845 (GRCm39) |
L72H |
probably damaging |
Het |
| Fstl4 |
G |
A |
11: 53,077,162 (GRCm39) |
G640S |
probably benign |
Het |
| Gabrb1 |
C |
T |
5: 72,265,663 (GRCm39) |
T186M |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,179,548 (GRCm39) |
|
probably null |
Het |
| Kdm3a |
T |
C |
6: 71,588,641 (GRCm39) |
E456G |
probably benign |
Het |
| Kl |
A |
T |
5: 150,876,755 (GRCm39) |
T192S |
probably damaging |
Het |
| Klhl3 |
G |
A |
13: 58,232,876 (GRCm39) |
A77V |
probably damaging |
Het |
| Klri2 |
A |
G |
6: 129,715,858 (GRCm39) |
F114L |
probably benign |
Het |
| Lonp2 |
A |
T |
8: 87,363,215 (GRCm39) |
R278* |
probably null |
Het |
| Lrp5 |
A |
T |
19: 3,680,483 (GRCm39) |
|
probably null |
Het |
| Med13 |
T |
A |
11: 86,219,357 (GRCm39) |
H363L |
probably damaging |
Het |
| Metap1d |
T |
G |
2: 71,346,022 (GRCm39) |
F194L |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,956 (GRCm39) |
K458E |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,081,157 (GRCm39) |
T1258A |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,354,064 (GRCm39) |
D1691V |
possibly damaging |
Het |
| Nr1i2 |
C |
T |
16: 38,086,300 (GRCm39) |
C55Y |
probably damaging |
Het |
| Or11h7 |
T |
C |
14: 50,891,257 (GRCm39) |
S188P |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,409 (GRCm39) |
I50F |
possibly damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,345 (GRCm39) |
Y247H |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,572,826 (GRCm39) |
D755E |
possibly damaging |
Het |
| Sez6l |
G |
T |
5: 112,623,110 (GRCm39) |
T147K |
possibly damaging |
Het |
| Ski |
A |
G |
4: 155,244,001 (GRCm39) |
F451S |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,022,158 (GRCm39) |
T300I |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,673,613 (GRCm39) |
V1050A |
probably benign |
Het |
| Spag1 |
T |
C |
15: 36,211,281 (GRCm39) |
S476P |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,798,166 (GRCm39) |
S1964T |
probably benign |
Het |
| Sucla2 |
T |
A |
14: 73,831,190 (GRCm39) |
D434E |
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,919,717 (GRCm39) |
T779I |
probably benign |
Het |
| Tlr2 |
T |
A |
3: 83,745,438 (GRCm39) |
E215V |
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,437,281 (GRCm39) |
P227S |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,016,477 (GRCm39) |
S711T |
probably benign |
Het |
| Traj32 |
T |
A |
14: 54,423,565 (GRCm39) |
Y2* |
probably null |
Het |
| Trim34b |
A |
G |
7: 103,985,525 (GRCm39) |
R387G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Usp5 |
T |
C |
6: 124,795,441 (GRCm39) |
T651A |
probably benign |
Het |
| Vmn1r188 |
T |
C |
13: 22,272,414 (GRCm39) |
S123P |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,543,918 (GRCm39) |
L66P |
probably damaging |
Het |
| Zfp712 |
C |
T |
13: 67,188,685 (GRCm39) |
C614Y |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,797,105 (GRCm39) |
K397R |
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 |
|
R4845:Ifi203
|
UTSW |
1 |
173,754,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- ACTCATTGTCTAGGGCGATGAA -3'
(R):5'- TGGAATAAAGTCCTTGGGCACA -3'
Sequencing Primer
(F):5'- TTGTCTAGGGCGATGAAAATTAAGAC -3'
(R):5'- TGGTTTCAATAAGCCGACGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation