Incidental Mutation 'PIT4305001:Ifi214'
ID 554532
Institutional Source Beutler Lab
Gene Symbol Ifi214
Ensembl Gene ENSMUSG00000070501
Gene Name interferon activated gene 214
Synonyms Pyhin-B, BC094916
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock # PIT4305001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 173519717-173535957 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 173527919 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 108 (P108S)
Ref Sequence ENSEMBL: ENSMUSP00000115105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090406] [ENSMUST00000097463] [ENSMUST00000139092]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000090406
AA Change: P108S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000087888
Gene: ENSMUSG00000070501
AA Change: P108S

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 benign
Transcript: ENSMUST00000097463
AA Change: P108S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000095071
Gene: ENSMUSG00000070501
AA Change: P108S

DomainStartEndE-ValueType
PYRIN 6 83 5.01e-17 SMART
low complexity region 152 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139092
AA Change: P108S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000115105
Gene: ENSMUSG00000070501
AA Change: P108S

DomainStartEndE-ValueType
PYRIN 6 83 5.01e-17 SMART
low complexity region 152 169 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.3%
  • 10x: 86.8%
  • 20x: 76.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,259,041 N801D probably benign Het
Adcy2 T C 13: 68,678,602 K661R probably benign Het
Akap1 A T 11: 88,844,378 M486K probably benign Het
Arhgap40 T A 2: 158,531,905 I202N probably benign Het
C1qtnf2 T A 11: 43,491,195 L248Q probably damaging Het
Casp1 A T 9: 5,306,135 H340L probably benign Het
Cd5 A G 19: 10,726,386 V104A possibly damaging Het
Celsr1 T A 15: 85,900,937 E3032V possibly damaging Het
Cts7 A G 13: 61,356,572 I59T probably damaging Het
Cutc G T 19: 43,768,269 A267S probably damaging Het
Dmwd A G 7: 19,080,718 Q431R probably damaging Het
Dnah6 T C 6: 73,065,755 N3280S probably benign Het
Dnah7b A T 1: 46,373,348 N4039I probably damaging Het
Dnaja4 T C 9: 54,710,634 I260T probably benign Het
Drd5 T C 5: 38,320,584 F307L probably damaging Het
Dsc2 C T 18: 20,046,243 S256N probably damaging Het
Dstyk G T 1: 132,455,896 E617* probably null Het
Dusp15 G A 2: 152,945,476 H72Y probably benign Het
Dysf C T 6: 84,100,234 R660* probably null Het
Fbxl13 T A 5: 21,522,148 I584L probably benign Het
Gm10354 T C 5: 14,978,790 D29G probably benign Het
Gsap T C 5: 21,186,409 L16P probably damaging Het
Hgsnat C T 8: 25,945,199 A636T possibly damaging Het
Hivep1 A G 13: 42,181,671 T161A Het
Hspg2 T C 4: 137,550,373 S2928P possibly damaging Het
Il17ra A T 6: 120,481,406 Y506F probably damaging Het
Il9r T A 11: 32,194,734 Q53L probably benign Het
Irf2bp2 C T 8: 126,592,659 G260R probably damaging Het
Jdp2 T A 12: 85,638,852 I129N probably damaging Het
Kif1b T C 4: 149,220,792 probably null Het
Klrd1 A G 6: 129,596,707 T120A unknown Het
Lfng A G 5: 140,612,528 N202D probably damaging Het
Ltbp3 A G 19: 5,752,067 E757G probably damaging Het
Ltn1 G A 16: 87,420,323 P342L probably damaging Het
Lum A C 10: 97,568,876 Y211S probably damaging Het
Ncapd2 G A 6: 125,184,027 R292* probably null Het
Nlrc4 T C 17: 74,446,309 T360A probably damaging Het
Olfr1231 T C 2: 89,303,383 I70V probably benign Het
Olfr850 T C 9: 19,478,061 Y63C probably damaging Het
Palm2 C A 4: 57,638,029 T22K possibly damaging Het
Pde3a A G 6: 141,492,310 D1035G probably benign Het
Phf20l1 A T 15: 66,613,052 K322I possibly damaging Het
Pik3r3 A C 4: 116,292,126 N349T probably benign Het
Poc1a A G 9: 106,349,829 Q420R Het
Prl7d1 A T 13: 27,714,337 M63K possibly damaging Het
Rap1gds1 C A 3: 138,956,300 M398I probably benign Het
Rapgef6 T A 11: 54,679,377 V1192D probably damaging Het
Rif1 T C 2: 52,111,958 V166A Het
Robo4 T C 9: 37,411,391 Y847H probably damaging Het
Sardh T C 2: 27,228,314 N468S probably damaging Het
Sema5a A G 15: 32,628,199 T553A probably benign Het
Serpina12 A G 12: 104,035,717 Y247H probably damaging Het
Ston2 G T 12: 91,648,502 D377E possibly damaging Het
Syne1 A G 10: 5,333,023 S1557P probably damaging Het
Syt6 C T 3: 103,575,453 R26W possibly damaging Het
Tep1 C T 14: 50,829,227 G2305R possibly damaging Het
Ticrr A G 7: 79,679,023 T637A possibly damaging Het
Tnn A T 1: 160,086,077 F1546Y possibly damaging Het
Tpr A G 1: 150,440,137 D2055G possibly damaging Het
Trim39 A G 17: 36,268,970 V31A possibly damaging Het
Trpc7 G T 13: 56,887,508 T204K probably benign Het
Urgcp T C 11: 5,717,996 Y157C probably damaging Het
Vmn1r81 A T 7: 12,260,663 I6K probably benign Het
Other mutations in Ifi214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Ifi214 APN 1 173529429 missense probably damaging 0.99
IGL01418: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
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
R8712:Ifi214 UTSW 1 173527920 missense possibly damaging 0.83
R8807:Ifi214 UTSW 1 173526567 missense possibly damaging 0.86
R9144:Ifi214 UTSW 1 173527868 missense possibly damaging 0.92
R9452:Ifi214 UTSW 1 173529328 missense possibly damaging 0.79
R9534:Ifi214 UTSW 1 173526526 missense probably benign 0.18
R9721:Ifi214 UTSW 1 173527913 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGTAGTTCAGACACACGAATGACC -3'
(R):5'- TCTAGCAGTGGGAGGTAAGC -3'

Sequencing Primer
(F):5'- GGTCCTATGACTAGATGGAC -3'
(R):5'- CAGTGGGAGGTAAGCACAGTG -3'
Posted On 2019-06-07