Incidental Mutation 'IGL01418:Ifi214'
ID278463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifi214
Ensembl Gene ENSMUSG00000070501
Gene Nameinterferon activated gene 214
SynonymsPyhin-B, BC094916
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL01418
Quality Score
Status
Chromosome1
Chromosomal Location173519717-173535957 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 173529429 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 36 (N36I)
Ref Sequence ENSEMBL: ENSMUSP00000087888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090406] [ENSMUST00000097463] [ENSMUST00000139092]
Predicted Effect probably damaging
Transcript: ENSMUST00000090406
AA Change: N36I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087888
Gene: ENSMUSG00000070501
AA Change: N36I

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 probably damaging
Transcript: ENSMUST00000097463
AA Change: N36I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095071
Gene: ENSMUSG00000070501
AA Change: N36I

DomainStartEndE-ValueType
PYRIN 6 83 5.01e-17 SMART
low complexity region 152 169 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139092
AA Change: N36I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115105
Gene: ENSMUSG00000070501
AA Change: N36I

DomainStartEndE-ValueType
PYRIN 6 83 5.01e-17 SMART
low complexity region 152 169 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195022
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,525,206 H190L probably benign Het
Apoo-ps T A 13: 107,414,532 noncoding transcript Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ceacam5 G A 7: 17,745,599 A214T probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Ctcfl T C 2: 173,118,331 E153G probably benign Het
Cubn C T 2: 13,284,041 V3374I probably benign Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dnah11 C T 12: 117,987,482 W1126* probably null Het
E130311K13Rik A C 3: 63,920,262 L141R possibly damaging Het
Ercc5 A G 1: 44,167,280 K451R probably benign Het
Fbxo34 T A 14: 47,530,784 C585S possibly damaging Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Itpr1 T A 6: 108,339,624 probably null Het
Lactb T C 9: 66,967,763 D349G possibly damaging Het
Lrp2 C T 2: 69,525,286 V405I probably benign Het
Map1b A T 13: 99,431,830 I1461K unknown Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Nek5 A C 8: 22,095,269 I364S probably damaging Het
Nr2c1 A T 10: 94,190,690 M476L probably damaging Het
Olfr1152 T C 2: 87,868,465 V158A probably benign Het
Olfr1290 T C 2: 111,489,639 E173G probably benign Het
Olfr412 T C 11: 74,364,984 V105A possibly damaging Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Phf10 C A 17: 14,945,134 V487L probably benign Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Slc5a8 G T 10: 88,905,033 C270F probably damaging Het
Slfn8 T C 11: 83,004,636 D448G probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Zfp507 T A 7: 35,793,812 probably null Het
Other mutations in Ifi214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Ifi214 APN 1 173529429 missense probably damaging 0.99
IGL01821:Ifi214 APN 1 173529325 missense probably damaging 0.97
IGL03341:Ifi214 APN 1 173526516 missense possibly damaging 0.86
PIT4305001:Ifi214 UTSW 1 173527919 missense probably benign 0.00
R1908:Ifi214 UTSW 1 173529511 missense probably benign 0.44
R4239:Ifi214 UTSW 1 173524943 missense possibly damaging 0.92
R4731:Ifi214 UTSW 1 173526591 missense probably benign 0.26
R4732:Ifi214 UTSW 1 173526591 missense probably benign 0.26
R4733:Ifi214 UTSW 1 173526591 missense probably benign 0.26
R5171:Ifi214 UTSW 1 173526634 missense possibly damaging 0.93
R5531:Ifi214 UTSW 1 173525120 missense probably damaging 1.00
R6290:Ifi214 UTSW 1 173529417 missense probably damaging 1.00
R6499:Ifi214 UTSW 1 173525031 missense probably damaging 0.99
R7271:Ifi214 UTSW 1 173529476 missense probably damaging 0.96
R7290:Ifi214 UTSW 1 173529531 missense probably benign 0.03
R7765:Ifi214 UTSW 1 173524836 missense probably damaging 0.96
Posted On2015-04-16