Incidental Mutation 'IGL00811:Ifi47'
| ID |
11408 |
| 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 # |
IGL00811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48986244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 4
(F4L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046704]
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000109202]
[ENSMUST00000152914]
[ENSMUST00000179282]
[ENSMUST00000203149]
[ENSMUST00000213728]
[ENSMUST00000214804]
[ENSMUST00000203810]
|
| AlphaFold |
Q61635 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046704
AA Change: F4L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: F4L
| 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 benign
Transcript: ENSMUST00000109202
AA Change: F4L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: F4L
| 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
AA Change: F4L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| 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 benign
Transcript: ENSMUST00000213728
AA Change: F4L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214804
AA Change: F4L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agps |
T |
C |
2: 75,756,316 (GRCm39) |
F649L |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,253,231 (GRCm39) |
D1752E |
possibly damaging |
Het |
| Det1 |
A |
G |
7: 78,489,807 (GRCm39) |
V406A |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,672 (GRCm39) |
V955A |
probably damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,354 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
T |
A |
4: 28,961,285 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,567 (GRCm39) |
L614P |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,201 (GRCm39) |
V353D |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,724 (GRCm39) |
P140S |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,579,531 (GRCm39) |
S588R |
possibly damaging |
Het |
| Nmrk1 |
T |
A |
19: 18,622,511 (GRCm39) |
|
probably benign |
Het |
| Nomo1 |
C |
T |
7: 45,732,732 (GRCm39) |
A1165V |
possibly damaging |
Het |
| Osmr |
G |
A |
15: 6,845,147 (GRCm39) |
T873I |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,024 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,544 (GRCm39) |
M115K |
probably damaging |
Het |
| Rora |
C |
A |
9: 69,278,572 (GRCm39) |
T299K |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,500,389 (GRCm39) |
P386Q |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Sox18 |
T |
C |
2: 181,312,213 (GRCm39) |
E306G |
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,521,414 (GRCm39) |
A121S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,332,752 (GRCm39) |
A411V |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,306 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
A |
9: 67,855,463 (GRCm39) |
N2509K |
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 |
|
|
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 |
|
IGL03260:Ifi47
|
APN |
11 |
48,986,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-12-06 |
Incidental Mutation