Incidental Mutation 'R8426:Iffo2'
ID 653467
Institutional Source Beutler Lab
Gene Symbol Iffo2
Ensembl Gene ENSMUSG00000041025
Gene Name intermediate filament family orphan 2
Synonyms
MMRRC Submission 067820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R8426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 139257859-139347693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139342291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 451 (Y451F)
Ref Sequence ENSEMBL: ENSMUSP00000134062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040023] [ENSMUST00000123827] [ENSMUST00000174078] [ENSMUST00000178644]
AlphaFold Q8R2V2
Predicted Effect probably damaging
Transcript: ENSMUST00000040023
AA Change: Y226F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039533
Gene: ENSMUSG00000041025
AA Change: Y226F

DomainStartEndE-ValueType
Pfam:Filament 1 253 3.8e-13 PFAM
low complexity region 255 268 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123827
AA Change: Y226F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133384
Gene: ENSMUSG00000041025
AA Change: Y226F

DomainStartEndE-ValueType
Pfam:Filament 1 253 3.8e-13 PFAM
low complexity region 255 268 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174078
AA Change: Y451F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134062
Gene: ENSMUSG00000041025
AA Change: Y451F

DomainStartEndE-ValueType
low complexity region 15 36 N/A INTRINSIC
Filament 49 478 7.38e-3 SMART
low complexity region 480 493 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178644
AA Change: Y226F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136776
Gene: ENSMUSG00000094439
AA Change: Y226F

DomainStartEndE-ValueType
SCOP:d1lbva_ 1 60 5e-3 SMART
Pfam:Filament 165 253 7.3e-13 PFAM
low complexity region 255 268 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,155,606 (GRCm39) H32R probably benign Het
Abcb1b T C 5: 8,911,632 (GRCm39) probably null Het
Aicda A T 6: 122,538,150 (GRCm39) N103Y probably damaging Het
Bsn T C 9: 108,003,772 (GRCm39) E211G probably damaging Het
Casp9 T C 4: 141,540,936 (GRCm39) Y435H probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam5 T C 7: 17,493,266 (GRCm39) V763A possibly damaging Het
Cxcr6 A G 9: 123,639,071 (GRCm39) N31S probably benign Het
Elapor1 G A 3: 108,378,742 (GRCm39) A352V probably damaging Het
Gm17728 A G 17: 9,641,231 (GRCm39) T114A probably benign Het
Gnao1 A T 8: 94,622,857 (GRCm39) probably null Het
Ints4 G A 7: 97,150,239 (GRCm39) W258* probably null Het
Ipo11 T C 13: 106,978,678 (GRCm39) D834G possibly damaging Het
Kif5a T C 10: 127,067,358 (GRCm39) D853G probably damaging Het
Lama4 A G 10: 38,979,487 (GRCm39) E1655G probably damaging Het
Lepr G A 4: 101,671,841 (GRCm39) S955N probably benign Het
Lrp1b T C 2: 41,388,318 (GRCm39) I550V Het
Mov10l1 T A 15: 88,881,608 (GRCm39) probably null Het
Mroh9 A T 1: 162,852,294 (GRCm39) D798E probably damaging Het
Myo10 A G 15: 25,799,576 (GRCm39) I1380V probably damaging Het
Neu2 C T 1: 87,524,387 (GRCm39) S124L probably damaging Het
Nol6 T C 4: 41,119,870 (GRCm39) I543V probably benign Het
Nrxn3 G A 12: 88,762,097 (GRCm39) R48H possibly damaging Het
Ogn C T 13: 49,774,567 (GRCm39) R237C possibly damaging Het
Or10aa3 T C 1: 173,878,146 (GRCm39) L69P probably damaging Het
Or8b46 A T 9: 38,450,620 (GRCm39) Y143F probably damaging Het
Phf24 C T 4: 42,933,785 (GRCm39) Q19* probably null Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ptch2 G T 4: 116,965,369 (GRCm39) S318I possibly damaging Het
Sart1 A G 19: 5,433,769 (GRCm39) M356T probably benign Het
Slit2 A G 5: 48,382,105 (GRCm39) N529D probably benign Het
Smchd1 A C 17: 71,755,598 (GRCm39) D261E probably damaging Het
Tcerg1 G A 18: 42,681,466 (GRCm39) V538I possibly damaging Het
Thada A T 17: 84,530,131 (GRCm39) M1746K probably benign Het
Thsd1 A G 8: 22,733,654 (GRCm39) I234V probably benign Het
Tm9sf4 G A 2: 153,045,736 (GRCm39) G536D probably damaging Het
Tmprss11c G T 5: 86,379,677 (GRCm39) N410K probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Unc5d G T 8: 29,210,016 (GRCm39) S440Y probably damaging Het
Vmn1r44 A G 6: 89,870,470 (GRCm39) D72G probably benign Het
Vmn1r68 T C 7: 10,261,382 (GRCm39) N239D probably benign Het
Vmn2r107 T A 17: 20,577,239 (GRCm39) H412Q possibly damaging Het
Other mutations in Iffo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0411:Iffo2 UTSW 4 139,330,532 (GRCm39) missense probably damaging 0.99
R1826:Iffo2 UTSW 4 139,341,376 (GRCm39) missense probably benign 0.10
R1902:Iffo2 UTSW 4 139,335,012 (GRCm39) missense probably damaging 1.00
R5198:Iffo2 UTSW 4 139,302,528 (GRCm39) missense probably benign
R6192:Iffo2 UTSW 4 139,333,769 (GRCm39) missense probably damaging 1.00
R8058:Iffo2 UTSW 4 139,341,164 (GRCm39) missense probably benign 0.01
R8161:Iffo2 UTSW 4 139,302,265 (GRCm39) missense possibly damaging 0.91
R8228:Iffo2 UTSW 4 139,302,483 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCACTTTGTTCAGAAGCAAGTC -3'
(R):5'- TGTAGTGAAGCTGCACGAGG -3'

Sequencing Primer
(F):5'- GTCTAAAGAATATTGACTGGTGTGC -3'
(R):5'- GCAGCCCCGAATGTCTCTC -3'
Posted On 2020-10-20