Incidental Mutation 'IGL02451:Ifi47'
ID293659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifi47
Ensembl Gene ENSMUSG00000078920
Gene Nameinterferon gamma inducible protein 47
SynonymsIRG-47, Igrd, Iigp4, 47kDa
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02451
Quality Score
Status
Chromosome11
Chromosomal Location49076587-49096974 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49095777 bp
ZygosityHeterozygous
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] [ENSMUST00000203810] [ENSMUST00000213728] [ENSMUST00000214804]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000203810
SMART Domains Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
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)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Ifi47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Ifi47 APN 11 49095414 nonsense probably null
IGL00811:Ifi47 APN 11 49095417 missense probably benign 0.00
IGL02468:Ifi47 APN 11 49095983 missense probably damaging 0.98
IGL02902:Ifi47 APN 11 49095790 missense probably benign 0.00
IGL03260:Ifi47 APN 11 49096105 missense probably damaging 0.99
R0111:Ifi47 UTSW 11 49096070 missense probably damaging 1.00
R0636:Ifi47 UTSW 11 49096651 missense possibly damaging 0.85
R1548:Ifi47 UTSW 11 49095871 missense probably damaging 1.00
R2255:Ifi47 UTSW 11 49096647 missense probably benign 0.02
R3703:Ifi47 UTSW 11 49095525 missense probably benign 0.01
R5071:Ifi47 UTSW 11 49095534 missense probably benign 0.01
R5073:Ifi47 UTSW 11 49095534 missense probably benign 0.01
R5074:Ifi47 UTSW 11 49095534 missense probably benign 0.01
R5262:Ifi47 UTSW 11 49095732 missense probably benign 0.00
R5902:Ifi47 UTSW 11 49095386 splice site probably null
R6745:Ifi47 UTSW 11 49095502 missense probably benign 0.38
R7155:Ifi47 UTSW 11 49096542 missense probably benign 0.39
R7535:Ifi47 UTSW 11 49096625 missense probably damaging 1.00
R8330:Ifi47 UTSW 11 49095810 missense possibly damaging 0.55
R8412:Ifi47 UTSW 11 49095598 missense probably damaging 0.98
Z1177:Ifi47 UTSW 11 49096275 nonsense probably null
Posted On2015-04-16