Incidental Mutation 'IGL00508:Ifi47'
ID4611
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: 0.065) question?
Stock #IGL00508
Quality Score
Status
Chromosome11
Chromosomal Location49076587-49096974 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 49095414 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 3 (Q3*)
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 null
Transcript: ENSMUST00000046704
AA Change: Q3*
SMART Domains Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: Q3*

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 null
Transcript: ENSMUST00000109202
AA Change: Q3*
SMART Domains Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: Q3*

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 null
Transcript: ENSMUST00000152914
AA Change: Q3*
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 null
Transcript: ENSMUST00000213728
AA Change: Q3*
Predicted Effect probably null
Transcript: ENSMUST00000214804
AA Change: Q3*
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,506,187 D2188E probably damaging Het
Atrx A G X: 105,823,799 S2026P probably damaging Het
Cacna1b A C 2: 24,657,289 probably null Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cfap57 C T 4: 118,581,170 probably null Het
Ckap5 T G 2: 91,606,256 V1567G probably damaging Het
Cyp2c38 A T 19: 39,460,725 Y61* probably null Het
D130052B06Rik A G 11: 33,599,402 E7G unknown Het
Dhx38 A G 8: 109,556,934 L527P possibly damaging Het
Dnaaf5 A G 5: 139,177,946 N653D probably benign Het
Dnah8 T G 17: 30,855,930 M4541R probably damaging Het
Dpyd A T 3: 119,064,987 T617S probably benign Het
Fpr2 A T 17: 17,892,772 N10I probably damaging Het
Frmd4a A T 2: 4,594,734 K524* probably null Het
Gpr45 C T 1: 43,032,292 P32S possibly damaging Het
H2-Eb2 A T 17: 34,334,367 I176F probably damaging Het
Hcrtr1 T A 4: 130,137,269 N74I probably damaging Het
Krt8 T A 15: 101,998,025 M350L probably benign Het
Lilra6 A G 7: 3,911,554 S533P probably benign Het
Map1b A T 13: 99,429,233 S2327T unknown Het
Mcoln3 T A 3: 146,133,928 I345N probably damaging Het
Mettl3 C A 14: 52,294,979 probably benign Het
Mgat4a G A 1: 37,449,123 R472* probably null Het
Micall1 A G 15: 79,130,568 K715E probably damaging Het
Pak1 G T 7: 97,854,568 G37C probably benign Het
Pomt2 T G 12: 87,119,627 H426P probably damaging Het
Pou2f3 G A 9: 43,139,963 P155S probably benign Het
Psg25 A G 7: 18,529,731 Y56H probably benign Het
Rab9 G T X: 166,457,864 Y150* probably null Het
Rhox2g T A X: 37,642,810 N152I probably damaging Het
Sema6d T C 2: 124,656,924 probably benign Het
Simc1 C A 13: 54,525,176 Q446K probably benign Het
Svs2 G T 2: 164,237,042 T315K possibly damaging Het
Syt9 C T 7: 107,425,367 R156* probably null Het
Tmem260 A T 14: 48,509,121 Y618F probably damaging Het
Wdr44 A G X: 23,800,544 I719V possibly damaging Het
Zfp518a T G 19: 40,913,470 I614M probably damaging Het
Other mutations in Ifi47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Ifi47 APN 11 49095417 missense probably benign 0.00
IGL02451:Ifi47 APN 11 49095777 missense probably damaging 1.00
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 On2012-04-20