Incidental Mutation 'R6745:Ifi47'
ID 530542
Institutional Source Beutler Lab
Gene Symbol Ifi47
Ensembl Gene ENSMUSG00000078920
Gene Name interferon gamma inducible protein 47
Synonyms 47kDa, IRG-47, Igrd, Iigp4
MMRRC Submission 044862-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6745 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 48967414-48987801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 48986329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 32 (I32S)
Ref Sequence ENSEMBL: ENSMUSP00000150940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046704] [ENSMUST00000056759] [ENSMUST00000102785] [ENSMUST00000109202] [ENSMUST00000152914] [ENSMUST00000179282] [ENSMUST00000213728] [ENSMUST00000214804] [ENSMUST00000203149] [ENSMUST00000203810]
AlphaFold Q61635
Predicted Effect probably benign
Transcript: ENSMUST00000046704
AA Change: I32S

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: I32S

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 benign
Transcript: ENSMUST00000109202
AA Change: I32S

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: I32S

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: ENSMUST00000213728
AA Change: I32S

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214804
AA Change: I32S

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
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 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 noncoding transcript
Transcript: ENSMUST00000203412
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb G T 10: 10,265,941 (GRCm39) T1040K probably damaging Het
Adgrf3 A G 5: 30,408,601 (GRCm39) V59A probably benign Het
Ankk1 G T 9: 49,327,480 (GRCm39) H566Q probably benign Het
Avil A C 10: 126,849,988 (GRCm39) D613A probably benign Het
Bbs9 A G 9: 22,582,132 (GRCm39) N613S probably benign Het
Chd1 A G 17: 17,607,429 (GRCm39) T326A probably benign Het
Clasp2 A T 9: 113,704,338 (GRCm39) R558* probably null Het
Cmbl A G 15: 31,589,933 (GRCm39) D221G possibly damaging Het
Col3a1 G T 1: 45,377,782 (GRCm39) probably benign Het
Creb5 A T 6: 53,581,517 (GRCm39) M172L probably benign Het
Crybg3 A G 16: 59,372,607 (GRCm39) V2291A possibly damaging Het
Cyp2g1 T G 7: 26,513,604 (GRCm39) V181G probably damaging Het
Dclk1 T A 3: 55,385,229 (GRCm39) S40T probably damaging Het
Dnah10 G T 5: 124,885,876 (GRCm39) M3053I probably damaging Het
Dnah12 T A 14: 26,428,383 (GRCm39) I268K probably damaging Het
Dock2 C G 11: 34,596,669 (GRCm39) D396H probably damaging Het
Dock2 T A 11: 34,596,670 (GRCm39) K395N probably damaging Het
Gpbp1 G A 13: 111,589,919 (GRCm39) R59C probably benign Het
Ighg3 A G 12: 113,323,890 (GRCm39) V166A unknown Het
Katnip T C 7: 125,369,822 (GRCm39) S137P probably benign Het
Kdm5d T A Y: 927,112 (GRCm39) C617S probably benign Homo
Kif20b T G 19: 34,906,276 (GRCm39) S55A possibly damaging Het
Klhl1 C T 14: 96,517,438 (GRCm39) probably null Het
Kndc1 C T 7: 139,500,892 (GRCm39) T727I probably benign Het
Lrrk1 A T 7: 65,922,749 (GRCm39) I298N probably damaging Het
Ly75 C A 2: 60,138,523 (GRCm39) R1448L probably damaging Het
Mup4 C T 4: 59,960,091 (GRCm39) V58M possibly damaging Het
Nr2c1 T C 10: 94,026,526 (GRCm39) F467S probably damaging Het
Or14j9 T A 17: 37,874,470 (GRCm39) H244L probably damaging Het
Pla2g4a G T 1: 149,761,981 (GRCm39) Q151K probably benign Het
Pom121l2 A T 13: 22,167,868 (GRCm39) Q713L probably benign Het
Pomgnt1 T A 4: 116,011,080 (GRCm39) S210T probably damaging Het
Prb1a T C 6: 132,186,383 (GRCm39) probably null Het
Pyroxd2 T C 19: 42,735,799 (GRCm39) D101G probably damaging Het
Ranbp3 A G 17: 57,016,308 (GRCm39) D359G probably benign Het
Rgsl1 T A 1: 153,698,063 (GRCm39) I531F probably benign Het
Serpina1b T C 12: 103,696,614 (GRCm39) N265S possibly damaging Het
Slc51b T C 9: 65,320,212 (GRCm39) E85G possibly damaging Het
Stk32c T A 7: 138,702,809 (GRCm39) R195W probably damaging Het
Uggt2 T C 14: 119,280,022 (GRCm39) T819A possibly damaging Het
Ugt1a9 A T 1: 87,998,898 (GRCm39) E116V probably benign Het
Zswim5 C G 4: 116,832,401 (GRCm39) P543A 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
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
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
Predicted Primers PCR Primer
(F):5'- GGGCAGGTTTCTCTTTTATCAATCC -3'
(R):5'- TCCCAACATCAGCGGATTCATC -3'

Sequencing Primer
(F):5'- AATCCTCTCTCCTTACCTCTTTGG -3'
(R):5'- CCTCGAAGGGCATTTATAAAACTGG -3'
Posted On 2018-08-01