Incidental Mutation 'IGL03341:Ifi214'
ID 417214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifi214
Ensembl Gene ENSMUSG00000070501
Gene Name interferon activated gene 214
Synonyms BC094916, Pyhin-B
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03341
Quality Score
Status
Chromosome 1
Chromosomal Location 173348877-173363523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 173354082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 196 (T196K)
Ref Sequence ENSEMBL: ENSMUSP00000115105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090406] [ENSMUST00000097463] [ENSMUST00000139092]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000090406
AA Change: T196K

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087888
Gene: ENSMUSG00000070501
AA Change: T196K

DomainStartEndE-ValueType
PYRIN 6 83 5.01e-17 SMART
low complexity region 152 169 N/A INTRINSIC
Pfam:HIN 231 393 9.1e-71 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097463
AA Change: T196K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095071
Gene: ENSMUSG00000070501
AA Change: T196K

DomainStartEndE-ValueType
PYRIN 6 83 5.01e-17 SMART
low complexity region 152 169 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139092
AA Change: T196K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115105
Gene: ENSMUSG00000070501
AA Change: T196K

DomainStartEndE-ValueType
PYRIN 6 83 5.01e-17 SMART
low complexity region 152 169 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197288
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is a member of the PAAD/DAPIN/Pyrin domain family of proteins. However, compared to the related pyrin and HIN domain family, member 1 (Pyhin1) protein, this protein is C-terminally truncated and lacks a HIN domain, which has an unknown function. It is therefore possible that this gene represents a pseudogene of the Pyhin1 gene, but it is currently being retained as a functional protein-coding gene based on the presence of an intact PAAD/DAPIN/Pyrin domain. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,265,906 (GRCm39) V255I possibly damaging Het
Acvrl1 T A 15: 101,035,477 (GRCm39) N334K probably damaging Het
Arhgef5 T A 6: 43,257,585 (GRCm39) I1284N probably damaging Het
Asns C A 6: 7,682,002 (GRCm39) R236L probably damaging Het
Barx2 T C 9: 31,770,090 (GRCm39) E146G probably damaging Het
Ccl7 A G 11: 81,936,661 (GRCm39) S18G probably benign Het
Cilp A T 9: 65,185,284 (GRCm39) T460S probably benign Het
Cpa5 A G 6: 30,626,290 (GRCm39) Y217C possibly damaging Het
Dgkh T A 14: 78,832,931 (GRCm39) probably benign Het
Dmc1 T C 15: 79,446,746 (GRCm39) T276A probably benign Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gstm2 T C 3: 107,891,521 (GRCm39) Y93C possibly damaging Het
Hc A T 2: 34,893,389 (GRCm39) I1274N probably damaging Het
Htra1 A G 7: 130,583,444 (GRCm39) I355V probably benign Het
Ms4a5 T C 19: 11,256,742 (GRCm39) T52A probably benign Het
Mtx3 T C 13: 92,984,391 (GRCm39) F191L probably damaging Het
Padi2 A G 4: 140,654,424 (GRCm39) M192V probably benign Het
Pdcl3 C A 1: 39,034,976 (GRCm39) Q178K probably benign Het
Rap1gap2 G A 11: 74,326,540 (GRCm39) R176W probably damaging Het
Ska2 A G 11: 87,006,990 (GRCm39) T32A probably benign Het
Slc6a18 G T 13: 73,826,042 (GRCm39) Q3K probably benign Het
Slc7a14 T C 3: 31,292,919 (GRCm39) Y122C probably damaging Het
Svep1 T A 4: 58,070,308 (GRCm39) K2493* probably null Het
Trpm6 T A 19: 18,790,850 (GRCm39) N628K probably benign Het
Ttc17 T A 2: 94,205,566 (GRCm39) N260I probably damaging Het
Ttc7b T C 12: 100,291,994 (GRCm39) I193V possibly damaging Het
Ttn T A 2: 76,542,583 (GRCm39) T25141S possibly damaging Het
Zfhx4 A C 3: 5,476,910 (GRCm39) Q3150P probably damaging Het
Other mutations in Ifi214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Ifi214 APN 1 173,356,995 (GRCm39) missense probably damaging 0.99
IGL01418:Ifi214 APN 1 173,356,995 (GRCm39) missense probably damaging 0.99
IGL01821:Ifi214 APN 1 173,356,891 (GRCm39) missense probably damaging 0.97
PIT4305001:Ifi214 UTSW 1 173,355,485 (GRCm39) missense probably benign 0.00
R1908:Ifi214 UTSW 1 173,357,077 (GRCm39) missense probably benign 0.44
R4239:Ifi214 UTSW 1 173,352,509 (GRCm39) missense possibly damaging 0.92
R4731:Ifi214 UTSW 1 173,354,157 (GRCm39) missense probably benign 0.26
R4732:Ifi214 UTSW 1 173,354,157 (GRCm39) missense probably benign 0.26
R4733:Ifi214 UTSW 1 173,354,157 (GRCm39) missense probably benign 0.26
R5171:Ifi214 UTSW 1 173,354,200 (GRCm39) missense possibly damaging 0.93
R5531:Ifi214 UTSW 1 173,352,686 (GRCm39) missense probably damaging 1.00
R6290:Ifi214 UTSW 1 173,356,983 (GRCm39) missense probably damaging 1.00
R6499:Ifi214 UTSW 1 173,352,597 (GRCm39) missense probably damaging 0.99
R7271:Ifi214 UTSW 1 173,357,042 (GRCm39) missense probably damaging 0.96
R7290:Ifi214 UTSW 1 173,357,097 (GRCm39) missense probably benign 0.03
R7765:Ifi214 UTSW 1 173,352,402 (GRCm39) missense probably damaging 0.96
R8712:Ifi214 UTSW 1 173,355,486 (GRCm39) missense possibly damaging 0.83
R8807:Ifi214 UTSW 1 173,354,133 (GRCm39) missense possibly damaging 0.86
R9144:Ifi214 UTSW 1 173,355,434 (GRCm39) missense possibly damaging 0.92
R9452:Ifi214 UTSW 1 173,356,894 (GRCm39) missense possibly damaging 0.79
R9534:Ifi214 UTSW 1 173,354,092 (GRCm39) missense probably benign 0.18
R9721:Ifi214 UTSW 1 173,355,479 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02