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) question?
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

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 noncoding transcript
Transcript: ENSMUST00000203412
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 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

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
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: 138,561,809 (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
AlleleSourceChrCoordTypePredicted EffectPPH 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