Incidental Mutation 'IGL02451:Ifi47'
ID |
293659 |
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 # |
IGL02451
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48986604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 124
(Y124H)
|
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 damaging
Transcript: ENSMUST00000046704
AA Change: Y124H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041975 Gene: ENSMUSG00000078920 AA Change: Y124H
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: Y124H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104825 Gene: ENSMUSG00000078920 AA Change: Y124H
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 |
noncoding transcript
Transcript: ENSMUST00000203412
|
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 |
probably damaging
Transcript: ENSMUST00000213728
AA Change: Y124H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214804
AA Change: Y124H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
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 |
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 |
2015-04-16 |