Incidental Mutation 'IGL03260:Ifi47'
ID |
414780 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ifi47
|
Ensembl Gene |
ENSMUSG00000078920 |
Gene Name |
interferon gamma inducible protein 47 |
Synonyms |
47kDa, IRG-47, Igrd, Iigp4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL03260
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48986932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 233
(F233S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046704]
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000109202]
[ENSMUST00000152914]
[ENSMUST00000179282]
[ENSMUST00000203149]
[ENSMUST00000213728]
[ENSMUST00000203810]
[ENSMUST00000214804]
|
AlphaFold |
Q61635 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046704
AA Change: F233S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041975 Gene: ENSMUSG00000078920 AA Change: F233S
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
40 |
414 |
1.7e-177 |
PFAM |
Pfam:MMR_HSR1
|
76 |
219 |
9e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056759
|
SMART Domains |
Protein: ENSMUSP00000058544 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102785
|
SMART Domains |
Protein: ENSMUSP00000099846 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109202
AA Change: F233S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104825 Gene: ENSMUSG00000078920 AA Change: F233S
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
40 |
414 |
3.1e-175 |
PFAM |
Pfam:Miro
|
76 |
191 |
2.4e-6 |
PFAM |
Pfam:MMR_HSR1
|
76 |
211 |
3.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152914
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179282
|
SMART Domains |
Protein: ENSMUSP00000136647 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
1 |
276 |
3.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
3.8e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203149
|
SMART Domains |
Protein: ENSMUSP00000145429 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
308 |
2.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
3.8e-7 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
2.5e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203412
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213728
AA Change: F233S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203810
|
SMART Domains |
Protein: ENSMUSP00000144951 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
308 |
2.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
3.8e-7 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
2.5e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214804
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: In the absence of infection, mice show no overt phenotype. Resistance to protozoan parasitic infection is impaired in homozygous mutant mice, whereas resistance to bacterial and viral infection are normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933406P04Rik |
A |
G |
10: 20,187,071 (GRCm39) |
|
probably benign |
Het |
Abca12 |
A |
G |
1: 71,323,258 (GRCm39) |
L1608P |
probably damaging |
Het |
Akr1b8 |
G |
T |
6: 34,340,394 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
A |
G |
11: 85,107,283 (GRCm39) |
V69A |
probably benign |
Het |
Ces1e |
T |
C |
8: 93,950,545 (GRCm39) |
N79D |
probably benign |
Het |
Cldn34b3 |
A |
G |
X: 75,310,479 (GRCm39) |
T16A |
probably damaging |
Het |
Frmd4b |
A |
T |
6: 97,373,185 (GRCm39) |
F103Y |
probably damaging |
Het |
Igkv8-30 |
A |
T |
6: 70,094,339 (GRCm39) |
M24K |
probably damaging |
Het |
Krt72 |
C |
T |
15: 101,686,708 (GRCm39) |
A413T |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,250 (GRCm39) |
T63A |
probably benign |
Het |
Naa35 |
T |
G |
13: 59,775,699 (GRCm39) |
S125A |
probably benign |
Het |
Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
Or6z7 |
A |
T |
7: 6,483,658 (GRCm39) |
C166S |
probably damaging |
Het |
Padi1 |
T |
C |
4: 140,555,505 (GRCm39) |
H240R |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,097,106 (GRCm39) |
T240A |
probably benign |
Het |
Ppp2ca |
A |
G |
11: 52,003,975 (GRCm39) |
N44S |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,331,378 (GRCm39) |
|
probably benign |
Het |
Rab33a |
A |
G |
X: 47,608,545 (GRCm39) |
E23G |
probably benign |
Het |
Scarb2 |
G |
T |
5: 92,594,296 (GRCm39) |
A422E |
probably damaging |
Het |
Scn4b |
A |
T |
9: 45,058,987 (GRCm39) |
N86I |
probably damaging |
Het |
Serpina1d |
G |
A |
12: 103,730,108 (GRCm39) |
T358I |
probably damaging |
Het |
Slc12a3 |
T |
A |
8: 95,059,870 (GRCm39) |
I172N |
probably damaging |
Het |
Slc18a1 |
T |
C |
8: 69,527,766 (GRCm39) |
E15G |
probably benign |
Het |
Snx7 |
A |
G |
3: 117,575,942 (GRCm39) |
|
probably benign |
Het |
Srpx |
T |
A |
X: 9,921,987 (GRCm39) |
K216* |
probably null |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,838,626 (GRCm39) |
S742P |
probably benign |
Het |
Vmn2r104 |
C |
T |
17: 20,263,083 (GRCm39) |
C126Y |
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,578,616 (GRCm39) |
N92K |
probably damaging |
Het |
|
Other mutations in Ifi47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Ifi47
|
APN |
11 |
48,986,241 (GRCm39) |
nonsense |
probably null |
|
IGL00811:Ifi47
|
APN |
11 |
48,986,244 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02451:Ifi47
|
APN |
11 |
48,986,604 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02468:Ifi47
|
APN |
11 |
48,986,810 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02902:Ifi47
|
APN |
11 |
48,986,617 (GRCm39) |
missense |
probably benign |
0.00 |
R0111:Ifi47
|
UTSW |
11 |
48,986,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R0636:Ifi47
|
UTSW |
11 |
48,987,478 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1548:Ifi47
|
UTSW |
11 |
48,986,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R2255:Ifi47
|
UTSW |
11 |
48,987,474 (GRCm39) |
missense |
probably benign |
0.02 |
R3703:Ifi47
|
UTSW |
11 |
48,986,352 (GRCm39) |
missense |
probably benign |
0.01 |
R5071:Ifi47
|
UTSW |
11 |
48,986,361 (GRCm39) |
missense |
probably benign |
0.01 |
R5073:Ifi47
|
UTSW |
11 |
48,986,361 (GRCm39) |
missense |
probably benign |
0.01 |
R5074:Ifi47
|
UTSW |
11 |
48,986,361 (GRCm39) |
missense |
probably benign |
0.01 |
R5262:Ifi47
|
UTSW |
11 |
48,986,559 (GRCm39) |
missense |
probably benign |
0.00 |
R5902:Ifi47
|
UTSW |
11 |
48,986,213 (GRCm39) |
splice site |
probably null |
|
R6745:Ifi47
|
UTSW |
11 |
48,986,329 (GRCm39) |
missense |
probably benign |
0.38 |
R7155:Ifi47
|
UTSW |
11 |
48,987,369 (GRCm39) |
missense |
probably benign |
0.39 |
R7535:Ifi47
|
UTSW |
11 |
48,987,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R8330:Ifi47
|
UTSW |
11 |
48,986,637 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8412:Ifi47
|
UTSW |
11 |
48,986,425 (GRCm39) |
missense |
probably damaging |
0.98 |
R9076:Ifi47
|
UTSW |
11 |
48,986,842 (GRCm39) |
missense |
probably benign |
|
R9487:Ifi47
|
UTSW |
11 |
48,986,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R9747:Ifi47
|
UTSW |
11 |
48,987,367 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1177:Ifi47
|
UTSW |
11 |
48,987,102 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |