Incidental Mutation 'R9351:Ifi203'
| ID |
708049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi203
|
| Ensembl Gene |
ENSMUSG00000039997 |
| Gene Name |
interferon activated gene 203 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R9351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173750133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 862
(V862A)
|
| 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: V448A
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: V448A
| 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: V400A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
AA Change: V400A
| 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: V400A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
AA Change: V400A
| 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: ENSMUST00000129829
AA Change: V862A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: V862A
| 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 benign
Transcript: ENSMUST00000156895
AA Change: V448A
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: V448A
| 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: 98.8%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,066,068 (GRCm39) |
T84A |
probably benign |
Het |
| Abca17 |
G |
A |
17: 24,510,751 (GRCm39) |
S909L |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,169,929 (GRCm39) |
Y371F |
possibly damaging |
Het |
| Adcy9 |
A |
T |
16: 4,236,228 (GRCm39) |
S394R |
probably damaging |
Het |
| Ahcyl1 |
T |
C |
3: 107,575,011 (GRCm39) |
N444S |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,985,232 (GRCm39) |
D2172A |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,130,576 (GRCm39) |
D421N |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,614,307 (GRCm39) |
E196V |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,300 (GRCm39) |
D317G |
probably damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,069 (GRCm39) |
I25T |
unknown |
Het |
| Clgn |
A |
G |
8: 84,153,218 (GRCm39) |
R607G |
possibly damaging |
Het |
| Clp1 |
T |
C |
2: 84,554,195 (GRCm39) |
K325E |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,975,185 (GRCm39) |
I52K |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,176,911 (GRCm39) |
T16I |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,771 (GRCm39) |
I411F |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,477,639 (GRCm39) |
F711L |
probably benign |
Het |
| Esr1 |
G |
A |
10: 4,696,763 (GRCm39) |
W204* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,172,127 (GRCm39) |
L2862P |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,054,068 (GRCm39) |
E159G |
probably damaging |
Het |
| Gsto2 |
T |
A |
19: 47,874,608 (GRCm39) |
C243S |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,545,867 (GRCm39) |
H206R |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,615,107 (GRCm39) |
H497Y |
probably benign |
Het |
| Irf5 |
A |
T |
6: 29,531,317 (GRCm39) |
N61I |
possibly damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Kcnj12 |
C |
T |
11: 60,960,673 (GRCm39) |
H324Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Lars2 |
A |
G |
9: 123,265,366 (GRCm39) |
Q474R |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,040,473 (GRCm39) |
F472S |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,401,223 (GRCm39) |
S590P |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,050,757 (GRCm39) |
L337F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,435 (GRCm39) |
V225A |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,910 (GRCm39) |
D241E |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,021 (GRCm39) |
D52E |
probably benign |
Het |
| Pagr1a |
A |
T |
7: 126,616,073 (GRCm39) |
H7Q |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,000,781 (GRCm39) |
Q787K |
probably damaging |
Het |
| Pcdhb2 |
C |
A |
18: 37,429,369 (GRCm39) |
N90K |
probably damaging |
Het |
| Pde6h |
A |
G |
6: 136,936,332 (GRCm39) |
K25R |
probably benign |
Het |
| Prr35 |
G |
A |
17: 26,166,118 (GRCm39) |
Q390* |
probably null |
Het |
| Psd3 |
C |
A |
8: 68,413,301 (GRCm39) |
A410S |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,617,311 (GRCm39) |
N8S |
probably benign |
Het |
| Rnf115 |
T |
C |
3: 96,695,994 (GRCm39) |
L260S |
probably damaging |
Het |
| Sdsl |
A |
T |
5: 120,601,159 (GRCm39) |
Y38N |
probably benign |
Het |
| Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,047 (GRCm39) |
Y1177H |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,816,900 (GRCm39) |
V147I |
probably benign |
Het |
| Tmed3 |
A |
T |
9: 89,584,980 (GRCm39) |
F92I |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,832,086 (GRCm39) |
T357A |
probably damaging |
Het |
| Trbv14 |
A |
T |
6: 41,112,428 (GRCm39) |
D75V |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,262 (GRCm39) |
V190A |
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,482 (GRCm39) |
I652F |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,016,333 (GRCm39) |
M266L |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,143,057 (GRCm39) |
I198V |
probably benign |
Het |
| Wdr27 |
G |
A |
17: 15,128,833 (GRCm39) |
A540V |
possibly damaging |
Het |
| Zfp26 |
A |
C |
9: 20,349,447 (GRCm39) |
Y372* |
probably null |
Het |
| Zfp286 |
A |
G |
11: 62,670,801 (GRCm39) |
V424A |
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 |
|
|
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 |
|
|
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'- TCTCAAATGGTTAAAGGATAGTGCC -3'
(R):5'- TACCTCAGGCCTTGCAACAC -3'
Sequencing Primer
(F):5'- CAGTTAAAGGAGTTATAGAGACAACC -3'
(R):5'- GGCCTTGCAACACTTGTATTTAAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation