Incidental Mutation 'IGL02386:Ifi30'
ID 291571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifi30
Ensembl Gene ENSMUSG00000031838
Gene Name interferon gamma inducible protein 30
Synonyms IP30, lysosomal thio reductase IP30 precursor, GILT
Accession Numbers
Essential gene? Not available question?
Stock # IGL02386
Quality Score
Status
Chromosome 8
Chromosomal Location 71215419-71219307 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 71217405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000034296] [ENSMUST00000038626] [ENSMUST00000143785]
AlphaFold Q9ESY9
Predicted Effect probably benign
Transcript: ENSMUST00000034296
SMART Domains Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834

DomainStartEndE-ValueType
SH3 7 79 4e-7 SMART
RhoGAP 122 286 2.36e-18 SMART
low complexity region 291 311 N/A INTRINSIC
SH2 322 405 4.51e-26 SMART
Pfam:PI3K_P85_iSH2 422 590 1.7e-64 PFAM
SH2 614 696 9.96e-28 SMART
low complexity region 713 718 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000034299
SMART Domains Protein: ENSMUSP00000034299
Gene: ENSMUSG00000031838

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:GILT 60 163 4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038626
SMART Domains Protein: ENSMUSP00000037929
Gene: ENSMUSG00000035559

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 122 187 6.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143785
SMART Domains Protein: ENSMUSP00000122065
Gene: ENSMUSG00000031834

DomainStartEndE-ValueType
Blast:RhoGAP 1 30 1e-8 BLAST
Pfam:SH2 33 70 4.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213010
Predicted Effect probably benign
Transcript: ENSMUST00000212617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222087
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]
PHENOTYPE: No phenotypic abormalities have been reported in mice homozygous for disruptions in this gene other than reduced efficiency in processing some antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,953,472 (GRCm39) noncoding transcript Het
Abhd17b T C 19: 21,658,263 (GRCm39) Y167H possibly damaging Het
Ablim1 T C 19: 57,123,086 (GRCm39) D167G probably damaging Het
Bpnt1 G T 1: 185,070,372 (GRCm39) K21N probably damaging Het
Cables2 A G 2: 179,903,431 (GRCm39) V251A probably benign Het
Cyp2b13 T C 7: 25,785,438 (GRCm39) L269P probably damaging Het
Dhodh A G 8: 110,321,396 (GRCm39) I330T probably damaging Het
Dnah5 T A 15: 28,340,527 (GRCm39) D2311E probably damaging Het
Dph1 T C 11: 75,074,428 (GRCm39) D128G probably benign Het
Dsg1c T A 18: 20,410,056 (GRCm39) I508N probably benign Het
Eftud2 T C 11: 102,742,580 (GRCm39) probably null Het
Fstl4 T A 11: 52,664,698 (GRCm39) H9Q probably benign Het
Glra3 A T 8: 56,542,063 (GRCm39) M269L probably benign Het
Gpatch8 C A 11: 102,398,983 (GRCm39) R83L unknown Het
Gss A G 2: 155,415,090 (GRCm39) V205A probably benign Het
Itch T A 2: 155,044,181 (GRCm39) Y495* probably null Het
Lilrb4a C T 10: 51,367,322 (GRCm39) Q22* probably null Het
Mest T C 6: 30,744,913 (GRCm39) F201S possibly damaging Het
Myh8 T A 11: 67,185,266 (GRCm39) I839N probably damaging Het
Myo7a C T 7: 97,724,319 (GRCm39) G1122E probably damaging Het
Ntan1 T A 16: 13,653,063 (GRCm39) M273K probably benign Het
Numa1 A G 7: 101,656,739 (GRCm39) K1548R probably benign Het
Obsl1 A G 1: 75,469,161 (GRCm39) V1260A probably damaging Het
Or4b12 T A 2: 90,096,295 (GRCm39) I160F probably damaging Het
Or4c10 T C 2: 89,760,888 (GRCm39) V245A probably damaging Het
Pde10a A G 17: 9,172,636 (GRCm39) S669G possibly damaging Het
Ppargc1b T C 18: 61,456,222 (GRCm39) D79G probably damaging Het
Rnf103 A G 6: 71,486,202 (GRCm39) T278A probably benign Het
Slc22a4 C A 11: 53,879,598 (GRCm39) probably benign Het
Snx25 A T 8: 46,494,386 (GRCm39) M833K possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Susd2 A T 10: 75,475,929 (GRCm39) Y357N probably damaging Het
Syne4 C A 7: 30,015,659 (GRCm39) S91Y possibly damaging Het
Tgfbrap1 C A 1: 43,114,981 (GRCm39) G40C probably damaging Het
Tial1 A G 7: 128,050,069 (GRCm39) S94P probably damaging Het
Tle3 A G 9: 61,301,941 (GRCm39) T117A possibly damaging Het
Usp48 A C 4: 137,331,834 (GRCm39) R73S possibly damaging Het
Utrn G T 10: 12,297,352 (GRCm39) D685E possibly damaging Het
Other mutations in Ifi30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Ifi30 APN 8 71,217,407 (GRCm39) unclassified probably benign
R0040:Ifi30 UTSW 8 71,216,421 (GRCm39) splice site probably null
R0040:Ifi30 UTSW 8 71,216,421 (GRCm39) splice site probably null
R0411:Ifi30 UTSW 8 71,217,562 (GRCm39) unclassified probably benign
R0690:Ifi30 UTSW 8 71,217,593 (GRCm39) unclassified probably benign
R2082:Ifi30 UTSW 8 71,216,373 (GRCm39) unclassified probably benign
R5289:Ifi30 UTSW 8 71,219,245 (GRCm39) unclassified probably benign
R5759:Ifi30 UTSW 8 71,219,188 (GRCm39) unclassified probably benign
Posted On 2015-04-16