Incidental Mutation 'R7631:Ifi203'
| ID |
589616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi203
|
| Ensembl Gene |
ENSMUSG00000039997 |
| Gene Name |
interferon activated gene 203 |
| Synonyms |
|
| MMRRC Submission |
045692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R7631 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 173754688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 681
(T681I)
|
| 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 damaging
Transcript: ENSMUST00000042228
AA Change: T267I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: T267I
| 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 |
possibly damaging
Transcript: ENSMUST00000081216
AA Change: T219I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
AA Change: T219I
| 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 |
possibly damaging
Transcript: ENSMUST00000123708
AA Change: T219I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
AA Change: T219I
| 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 |
unknown
Transcript: ENSMUST00000129829
AA Change: T681I
|
| SMART Domains |
Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: T681I
| 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 |
probably damaging
Transcript: ENSMUST00000156895
AA Change: T267I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: T267I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
87% (46/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,834,606 (GRCm39) |
L930H |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,727,531 (GRCm39) |
L383S |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,109,276 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
A |
G |
13: 97,015,462 (GRCm39) |
H1577R |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,302,694 (GRCm39) |
N9S |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,279,079 (GRCm39) |
V491A |
possibly damaging |
Het |
| Cyb5d1 |
A |
T |
11: 69,285,865 (GRCm39) |
L57Q |
possibly damaging |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,763 (GRCm39) |
Q150L |
possibly damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,363 (GRCm39) |
Y1336* |
probably null |
Het |
| Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,445 (GRCm39) |
T1796A |
probably benign |
Het |
| Defa27 |
T |
A |
8: 21,805,657 (GRCm39) |
D32E |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,744,019 (GRCm39) |
E96G |
probably benign |
Het |
| Fbxw19 |
T |
A |
9: 109,311,069 (GRCm39) |
Y380F |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,890,195 (GRCm39) |
N243K |
probably damaging |
Het |
| Fndc7 |
G |
A |
3: 108,776,568 (GRCm39) |
A491V |
probably damaging |
Het |
| Gm14305 |
A |
G |
2: 176,410,790 (GRCm39) |
Q15R |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,213,291 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,624,513 (GRCm39) |
H360R |
probably damaging |
Het |
| Klc2 |
A |
G |
19: 5,158,647 (GRCm39) |
S616P |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,214,258 (GRCm39) |
Y704C |
probably damaging |
Het |
| Lingo4 |
A |
C |
3: 94,306,767 (GRCm39) |
D15A |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,795,884 (GRCm39) |
N286Y |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,669,963 (GRCm39) |
T374A |
not run |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,576,791 (GRCm39) |
T847A |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,825 (GRCm39) |
M763K |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or1p4-ps1 |
A |
C |
11: 74,208,357 (GRCm39) |
T169P |
unknown |
Het |
| Or2r3 |
T |
A |
6: 42,448,870 (GRCm39) |
M81L |
probably benign |
Het |
| Or5m11 |
A |
T |
2: 85,782,218 (GRCm39) |
E270D |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,092,002 (GRCm39) |
V39E |
probably damaging |
Het |
| Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
| Pabpc4 |
T |
G |
4: 123,182,763 (GRCm39) |
D133E |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,542,144 (GRCm39) |
C816S |
probably damaging |
Het |
| Pgm2 |
A |
G |
5: 64,265,522 (GRCm39) |
T408A |
possibly damaging |
Het |
| Polr2m |
G |
C |
9: 71,390,757 (GRCm39) |
Y148* |
probably null |
Het |
| Reln |
T |
C |
5: 22,176,933 (GRCm39) |
N1911S |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,026,445 (GRCm39) |
D1124G |
unknown |
Het |
| Scgb1b19 |
C |
T |
7: 32,986,784 (GRCm39) |
T18I |
probably damaging |
Het |
| Septin12 |
T |
A |
16: 4,814,320 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,539,491 (GRCm39) |
M22K |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smchd1 |
A |
G |
17: 71,705,684 (GRCm39) |
F972L |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,409 (GRCm39) |
Y85C |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,524,247 (GRCm39) |
V557I |
possibly damaging |
Het |
| Tcirg1 |
G |
T |
19: 3,947,160 (GRCm39) |
Q634K |
probably damaging |
Het |
| Tma7 |
T |
A |
9: 108,911,507 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
A |
G |
17: 25,299,414 (GRCm39) |
L35P |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Tubb2a |
A |
G |
13: 34,259,227 (GRCm39) |
S188P |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,029,751 (GRCm39) |
L485F |
|
Het |
| Vmn1r71 |
A |
T |
7: 10,482,378 (GRCm39) |
S103R |
probably damaging |
Het |
| Vmn2r40 |
C |
T |
7: 8,911,119 (GRCm39) |
D725N |
|
Het |
| Zfp473 |
T |
C |
7: 44,383,128 (GRCm39) |
R402G |
possibly damaging |
Het |
| Zfp82 |
A |
T |
7: 29,755,851 (GRCm39) |
S410R |
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 |
|
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 |
|
|
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'- ATCGGACACACAGGAAGCTC -3'
(R):5'- CTACGTTGTAATATAGCAACCGTTG -3'
Sequencing Primer
(F):5'- CAGGAAGCTCTGTATATCTCCAG -3'
(R):5'- ATATGTTCTCCATTCTATTCAGTGGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation