Incidental Mutation 'IGL03304:Ifi211'
ID 416345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifi211
Ensembl Gene ENSMUSG00000026536
Gene Name interferon activated gene 211
Synonyms Ifi205b, Mnda
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL03304
Quality Score
Status
Chromosome 1
Chromosomal Location 173723911-173740612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173735273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 52 (M52K)
Ref Sequence ENSEMBL: ENSMUSP00000009340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009340] [ENSMUST00000111210]
AlphaFold P0DOV1
PDB Structure Solution structures of the PAAD_DAPIN domain of mus musculus interferon-activatable protein 205 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000009340
AA Change: M52K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009340
Gene: ENSMUSG00000026536
AA Change: M52K

DomainStartEndE-ValueType
PYRIN 6 84 1.94e-14 SMART
low complexity region 120 154 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
Pfam:HIN 225 393 2.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111210
SMART Domains Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272

DomainStartEndE-ValueType
PYRIN 5 83 3.71e-20 SMART
internal_repeat_1 152 166 2.38e-7 PROSPERO
low complexity region 170 200 N/A INTRINSIC
internal_repeat_1 208 222 2.38e-7 PROSPERO
low complexity region 225 249 N/A INTRINSIC
low complexity region 276 292 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
Pfam:HIN 311 479 3.4e-76 PFAM
low complexity region 497 507 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the interferon-regulated 200 family of proteins, which contain an N-terminal pyrin domain that is proposed to function in cell death and a partially conserved 220 amino acid domain. Expression of this protein in embryonic stem cells is critical for the DNA damage response and regulation of cell survival. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A T 9: 106,312,665 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,438 (GRCm39) probably benign Het
Anapc1 A T 2: 128,469,033 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aoah A G 13: 21,099,180 (GRCm39) probably benign Het
Atp9b A T 18: 80,961,092 (GRCm39) Y40N probably damaging Het
Brd8 A G 18: 34,747,633 (GRCm39) probably benign Het
Cd274 A C 19: 29,361,502 (GRCm39) E270A probably damaging Het
Cic T A 7: 24,984,274 (GRCm39) V23E probably damaging Het
Cpeb4 T C 11: 31,822,739 (GRCm39) L151P probably damaging Het
D3Ertd751e G A 3: 41,701,164 (GRCm39) probably null Het
Diaph1 A T 18: 37,987,626 (GRCm39) D1043E possibly damaging Het
Fcgbpl1 A G 7: 27,841,667 (GRCm39) Y534C probably damaging Het
Hmcn1 T A 1: 150,505,982 (GRCm39) N3848I probably damaging Het
Itih4 T C 14: 30,620,006 (GRCm39) I747T probably damaging Het
Kifbp A C 10: 62,395,082 (GRCm39) L520R probably damaging Het
Lcat T C 8: 106,666,695 (GRCm39) M276V possibly damaging Het
Mmp1b A T 9: 7,384,701 (GRCm39) D282E probably damaging Het
Mst1r T A 9: 107,785,137 (GRCm39) V265D probably damaging Het
Muc4 T A 16: 32,570,257 (GRCm39) L439* probably null Het
Nlrp4e T A 7: 23,052,768 (GRCm39) probably null Het
Ogfod2 A T 5: 124,250,886 (GRCm39) D24V probably damaging Het
Or1ak2 T C 2: 36,827,560 (GRCm39) L143P probably damaging Het
Or5b105 A G 19: 13,080,105 (GRCm39) S182P probably damaging Het
Or9s23 T C 1: 92,501,025 (GRCm39) V44A probably benign Het
Pcnx1 T A 12: 82,028,803 (GRCm39) W1661R probably damaging Het
Pdzph1 G A 17: 59,187,641 (GRCm39) T1193I probably damaging Het
Pias3 A G 3: 96,607,347 (GRCm39) T152A possibly damaging Het
Pla2g5 A T 4: 138,531,880 (GRCm39) Y41* probably null Het
Plxna4 A G 6: 32,141,986 (GRCm39) probably benign Het
Ppp2r2a A C 14: 67,253,977 (GRCm39) V397G probably benign Het
Ripor3 A G 2: 167,822,848 (GRCm39) probably benign Het
Slc35a3 A G 3: 116,480,960 (GRCm39) L101P probably damaging Het
Sptan1 G A 2: 29,876,505 (GRCm39) R295Q probably damaging Het
Syce1 A T 7: 140,357,623 (GRCm39) V314D possibly damaging Het
Tex52 T C 6: 128,356,495 (GRCm39) Y63H possibly damaging Het
Tmem63a T A 1: 180,796,418 (GRCm39) Y580* probably null Het
Ube2m T A 7: 12,769,685 (GRCm39) probably benign Het
Vmn1r50 G T 6: 90,084,625 (GRCm39) K123N probably damaging Het
Other mutations in Ifi211
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03258:Ifi211 APN 1 173,733,098 (GRCm39) missense probably benign 0.40
BB007:Ifi211 UTSW 1 173,733,769 (GRCm39) missense possibly damaging 0.91
BB017:Ifi211 UTSW 1 173,733,769 (GRCm39) missense possibly damaging 0.91
FR4548:Ifi211 UTSW 1 173,733,759 (GRCm39) missense possibly damaging 0.85
R1686:Ifi211 UTSW 1 173,726,969 (GRCm39) missense probably damaging 0.99
R2011:Ifi211 UTSW 1 173,735,169 (GRCm39) missense probably damaging 0.99
R4657:Ifi211 UTSW 1 173,735,226 (GRCm39) missense probably benign 0.03
R5220:Ifi211 UTSW 1 173,735,262 (GRCm39) missense probably damaging 1.00
R5410:Ifi211 UTSW 1 173,733,829 (GRCm39) missense probably benign 0.08
R6644:Ifi211 UTSW 1 173,733,118 (GRCm39) missense probably benign 0.42
R6953:Ifi211 UTSW 1 173,733,832 (GRCm39) missense probably damaging 1.00
R7451:Ifi211 UTSW 1 173,727,058 (GRCm39) missense probably damaging 1.00
R7567:Ifi211 UTSW 1 173,729,401 (GRCm39) missense probably damaging 1.00
R7667:Ifi211 UTSW 1 173,727,020 (GRCm39) missense probably damaging 1.00
R7930:Ifi211 UTSW 1 173,733,769 (GRCm39) missense possibly damaging 0.91
R8499:Ifi211 UTSW 1 173,733,086 (GRCm39) missense probably benign 0.40
R9002:Ifi211 UTSW 1 173,733,894 (GRCm39) missense possibly damaging 0.68
R9299:Ifi211 UTSW 1 173,735,288 (GRCm39) missense probably damaging 0.96
R9562:Ifi211 UTSW 1 173,733,052 (GRCm39) missense probably benign 0.43
Z1088:Ifi211 UTSW 1 173,735,226 (GRCm39) missense possibly damaging 0.74
Posted On 2016-08-02