Incidental Mutation 'R9586:Ifi203'
| ID |
722780 |
| 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: 0.096)
|
| Stock # |
R9586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 173754623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 703
(R703*)
|
| 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 null
Transcript: ENSMUST00000042228
AA Change: R289*
|
| SMART Domains |
Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: R289*
| 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 null
Transcript: ENSMUST00000081216
AA Change: R241*
|
| SMART Domains |
Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
AA Change: R241*
| 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 null
Transcript: ENSMUST00000123708
AA Change: R241*
|
| SMART Domains |
Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
AA Change: R241*
| 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 null
Transcript: ENSMUST00000129829
AA Change: R703*
|
| SMART Domains |
Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: R703*
| 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 null
Transcript: ENSMUST00000156895
AA Change: R289*
|
| SMART Domains |
Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: R289*
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip5 |
C |
T |
6: 97,206,572 (GRCm39) |
A84V |
possibly damaging |
Het |
| Cep170 |
G |
A |
1: 176,563,463 (GRCm39) |
P716L |
possibly damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,480 (GRCm39) |
C519S |
probably damaging |
Het |
| Dnase1l3 |
A |
T |
14: 7,967,796 (GRCm38) |
V299D |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,139,746 (GRCm39) |
L945P |
|
Het |
| Fstl4 |
A |
T |
11: 53,077,729 (GRCm39) |
I829L |
probably benign |
Het |
| Gm36210 |
T |
A |
7: 4,909,324 (GRCm39) |
R45* |
probably null |
Het |
| Homer2 |
C |
T |
7: 81,260,113 (GRCm39) |
R318Q |
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,314,478 (GRCm39) |
E76K |
probably damaging |
Het |
| Insyn2a |
T |
C |
7: 134,520,180 (GRCm39) |
T117A |
probably damaging |
Het |
| Lonp1 |
G |
A |
17: 56,924,839 (GRCm39) |
R523C |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,703,820 (GRCm39) |
V1881I |
possibly damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,244 (GRCm39) |
D249G |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,932,635 (GRCm39) |
|
probably null |
Het |
| Oog3 |
A |
T |
4: 143,884,966 (GRCm39) |
C323* |
probably null |
Het |
| Ovgp1 |
A |
G |
3: 105,881,138 (GRCm39) |
R3G |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,047 (GRCm39) |
I838M |
probably damaging |
Het |
| Rps6kc1 |
C |
A |
1: 190,514,774 (GRCm39) |
M1006I |
probably benign |
Het |
| Rpusd1 |
A |
G |
17: 25,947,292 (GRCm39) |
T37A |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,496,096 (GRCm39) |
R47S |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,891 (GRCm39) |
T122I |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 79,456,266 (GRCm39) |
I289M |
probably damaging |
Het |
| Slc25a37 |
G |
T |
14: 69,482,421 (GRCm39) |
N293K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,458,039 (GRCm39) |
A3281T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 150,985,832 (GRCm39) |
N559K |
possibly damaging |
Het |
| Tmem87b |
T |
A |
2: 128,660,260 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r199 |
C |
T |
13: 22,567,716 (GRCm39) |
R337C |
probably benign |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,770 (GRCm39) |
N218Y |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,742 (GRCm39) |
Q574P |
|
Het |
| Vmn2r45 |
T |
C |
7: 8,486,050 (GRCm39) |
N413D |
probably benign |
Het |
| Wdr33 |
T |
C |
18: 31,966,669 (GRCm39) |
S170P |
probably damaging |
Het |
| Zfp385a |
A |
T |
15: 103,241,580 (GRCm39) |
I20N |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,932,017 (GRCm39) |
S39G |
possibly 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 |
|
|
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 |
|
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'- AATGTCCCCTTTGCTTGTGAG -3'
(R):5'- GTTTTGTGTAGGCACCAAGG -3'
Sequencing Primer
(F):5'- CCCCTTTGCTTGTGAGAGAAGATAAG -3'
(R):5'- TTTTGTGTAGGCACCAAGGAGAGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation