Incidental Mutation 'IGL03334:Ifi203'
ID |
416957 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ifi203
|
Ensembl Gene |
ENSMUSG00000039997 |
Gene Name |
interferon activated gene 203 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL03334
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
173747973-173770238 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 173765401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 58
(K58*)
|
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 null
Transcript: ENSMUST00000042228
AA Change: K58*
|
SMART Domains |
Protein: ENSMUSP00000042071 Gene: ENSMUSG00000039997 AA Change: K58*
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: K58*
|
SMART Domains |
Protein: ENSMUSP00000079976 Gene: ENSMUSG00000039997 AA Change: K58*
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: K58*
|
SMART Domains |
Protein: ENSMUSP00000121480 Gene: ENSMUSG00000039997 AA Change: K58*
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 null
Transcript: ENSMUST00000129829
AA Change: K58*
|
SMART Domains |
Protein: ENSMUSP00000122424 Gene: ENSMUSG00000039997 AA Change: K58*
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 null
Transcript: ENSMUST00000156895
AA Change: K58*
|
SMART Domains |
Protein: ENSMUSP00000114221 Gene: ENSMUSG00000039997 AA Change: K58*
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: ENSMUST00000138143
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140143
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
A |
G |
11: 48,838,302 (GRCm39) |
F762L |
probably benign |
Het |
Angpt1 |
T |
A |
15: 42,359,808 (GRCm39) |
E208V |
possibly damaging |
Het |
Arhgef18 |
A |
T |
8: 3,438,023 (GRCm39) |
I286F |
probably benign |
Het |
Arhgef5 |
T |
C |
6: 43,250,934 (GRCm39) |
S562P |
possibly damaging |
Het |
Asb6 |
T |
C |
2: 30,714,496 (GRCm39) |
T205A |
probably benign |
Het |
B4galnt4 |
G |
A |
7: 140,647,354 (GRCm39) |
|
probably null |
Het |
Clca4a |
A |
T |
3: 144,659,627 (GRCm39) |
M743K |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,312,217 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
T |
4: 63,232,959 (GRCm39) |
Y359F |
probably damaging |
Het |
Dhcr7 |
T |
A |
7: 143,394,234 (GRCm39) |
V125D |
possibly damaging |
Het |
Ercc3 |
T |
C |
18: 32,373,890 (GRCm39) |
|
probably null |
Het |
Fnbp1l |
A |
G |
3: 122,351,598 (GRCm39) |
V315A |
probably benign |
Het |
Gm17174 |
T |
A |
14: 51,829,420 (GRCm39) |
R48* |
probably null |
Het |
Golga4 |
C |
T |
9: 118,366,301 (GRCm39) |
|
probably benign |
Het |
Grin1 |
C |
T |
2: 25,188,405 (GRCm39) |
|
probably null |
Het |
Ighv2-9-1 |
A |
G |
12: 113,733,543 (GRCm39) |
S93P |
probably benign |
Het |
Il27ra |
A |
G |
8: 84,757,751 (GRCm39) |
V594A |
probably benign |
Het |
Krr1 |
T |
G |
10: 111,815,959 (GRCm39) |
S275R |
probably benign |
Het |
Lars1 |
T |
C |
18: 42,354,571 (GRCm39) |
D792G |
probably benign |
Het |
Myo1f |
G |
A |
17: 33,817,168 (GRCm39) |
R737H |
probably damaging |
Het |
Nebl |
T |
A |
2: 17,418,522 (GRCm39) |
H292L |
probably damaging |
Het |
Nell1 |
C |
A |
7: 49,712,359 (GRCm39) |
|
probably null |
Het |
Nktr |
T |
C |
9: 121,577,242 (GRCm39) |
F412L |
probably benign |
Het |
Nlrp3 |
T |
A |
11: 59,439,842 (GRCm39) |
I473N |
probably damaging |
Het |
Or1j10 |
T |
C |
2: 36,267,063 (GRCm39) |
Y92H |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,844,810 (GRCm39) |
V1383A |
probably damaging |
Het |
Prss48 |
T |
C |
3: 85,904,625 (GRCm39) |
E191G |
probably damaging |
Het |
Psg25 |
T |
A |
7: 18,263,699 (GRCm39) |
L41F |
probably benign |
Het |
Sema3b |
A |
G |
9: 107,481,276 (GRCm39) |
L78P |
probably damaging |
Het |
Spen |
G |
T |
4: 141,197,280 (GRCm39) |
N3496K |
probably damaging |
Het |
Tbk1 |
A |
T |
10: 121,420,104 (GRCm39) |
H28Q |
possibly damaging |
Het |
Trpv3 |
T |
A |
11: 73,172,491 (GRCm39) |
|
probably benign |
Het |
Vmn1r218 |
T |
C |
13: 23,320,788 (GRCm39) |
L45P |
probably damaging |
Het |
Vmn2r35 |
T |
A |
7: 7,789,493 (GRCm39) |
Y748F |
probably damaging |
Het |
Vps18 |
C |
T |
2: 119,127,963 (GRCm39) |
R929W |
probably damaging |
Het |
Xpnpep1 |
T |
C |
19: 52,998,577 (GRCm39) |
K224E |
probably damaging |
Het |
Zbed5 |
T |
A |
5: 129,931,196 (GRCm39) |
F382I |
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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |