Incidental Mutation 'R0400:Iffo1'
ID 38125
Institutional Source Beutler Lab
Gene Symbol Iffo1
Ensembl Gene ENSMUSG00000038271
Gene Name intermediate filament family orphan 1
Synonyms 4733401N06Rik, Iffo, A930037G23Rik
MMRRC Submission 038605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0400 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125122204-125138745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125130434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 471 (K471R)
Ref Sequence ENSEMBL: ENSMUSP00000113376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117675] [ENSMUST00000119527] [ENSMUST00000144364]
AlphaFold Q8BXL9
Predicted Effect probably damaging
Transcript: ENSMUST00000051171
AA Change: K474R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056373
Gene: ENSMUSG00000038271
AA Change: K474R

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
low complexity region 33 66 N/A INTRINSIC
Filament 72 529 4.84e-6 SMART
low complexity region 537 560 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117675
AA Change: K474R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271
AA Change: K474R

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
low complexity region 381 392 N/A INTRINSIC
PDB:1GK4|F 393 459 6e-7 PDB
low complexity region 474 497 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119527
AA Change: K471R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271
AA Change: K471R

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
low complexity region 378 389 N/A INTRINSIC
PDB:1GK4|F 390 456 6e-7 PDB
low complexity region 471 494 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141230
Predicted Effect unknown
Transcript: ENSMUST00000148835
AA Change: K292R
SMART Domains Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271
AA Change: K292R

DomainStartEndE-ValueType
Filament 34 348 4.99e-2 SMART
low complexity region 356 379 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150474
Predicted Effect probably benign
Transcript: ENSMUST00000144364
SMART Domains Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
Meta Mutation Damage Score 0.1217 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik T A 11: 30,376,360 (GRCm39) H169L probably benign Het
9130230L23Rik T C 5: 66,147,699 (GRCm39) D28G unknown Het
Abca12 T A 1: 71,298,935 (GRCm39) probably benign Het
Acsl5 T C 19: 55,282,143 (GRCm39) V573A probably damaging Het
Agap1 A G 1: 89,770,972 (GRCm39) probably benign Het
Arid2 A G 15: 96,254,806 (GRCm39) probably benign Het
B430305J03Rik T A 3: 61,271,556 (GRCm39) probably benign Het
Brsk2 T C 7: 141,552,290 (GRCm39) L584P probably damaging Het
C2cd4c A G 10: 79,449,043 (GRCm39) Y35H probably damaging Het
Cacul1 A G 19: 60,551,591 (GRCm39) probably benign Het
Cers3 T C 7: 66,414,078 (GRCm39) V88A probably benign Het
Cnnm1 A T 19: 43,456,803 (GRCm39) H614L probably damaging Het
Col1a1 T A 11: 94,832,195 (GRCm39) probably benign Het
Cyp1b1 T A 17: 80,021,016 (GRCm39) D242V probably damaging Het
Cyp4a31 T C 4: 115,420,915 (GRCm39) M1T probably null Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Dclk2 A T 3: 86,721,054 (GRCm39) probably null Het
Dnah17 A G 11: 117,972,904 (GRCm39) S2010P probably damaging Het
Dram2 T C 3: 106,480,934 (GRCm39) L246P probably damaging Het
Dus2 A T 8: 106,775,309 (GRCm39) T279S probably benign Het
Epn2 T C 11: 61,423,522 (GRCm39) probably null Het
Esco2 C A 14: 66,069,155 (GRCm39) V52F possibly damaging Het
Fbp1 T A 13: 63,012,882 (GRCm39) T104S probably benign Het
Foxj2 A T 6: 122,810,767 (GRCm39) Q249L possibly damaging Het
Galnt7 T C 8: 58,037,023 (GRCm39) Y122C probably damaging Het
Gimd1 T C 3: 132,340,588 (GRCm39) Y35H probably benign Het
Gipc2 A G 3: 151,871,305 (GRCm39) F74L probably damaging Het
Glt1d1 T A 5: 127,734,139 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,290,141 (GRCm39) T2325A probably damaging Het
Ireb2 G A 9: 54,803,782 (GRCm39) R491H probably benign Het
Isg20 A G 7: 78,566,473 (GRCm39) N141D possibly damaging Het
Kmt5c G A 7: 4,749,243 (GRCm39) R100H probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrn4 A C 2: 132,719,940 (GRCm39) F287V probably benign Het
Maco1 T C 4: 134,555,427 (GRCm39) K349E probably benign Het
Mmrn1 A C 6: 60,954,099 (GRCm39) K793N probably benign Het
Muc16 A G 9: 18,421,830 (GRCm39) V8227A possibly damaging Het
Myh2 C T 11: 67,083,424 (GRCm39) probably benign Het
Nalcn T A 14: 123,528,372 (GRCm39) probably benign Het
Nfia T C 4: 97,951,373 (GRCm39) V400A probably damaging Het
Nxph4 T A 10: 127,362,127 (GRCm39) T255S possibly damaging Het
Olfm5 G A 7: 103,803,386 (GRCm39) T359I probably damaging Het
Or1e33 T C 11: 73,738,867 (GRCm39) Y28C probably benign Het
Or5t18 A G 2: 86,636,995 (GRCm39) M116T probably damaging Het
Or8b44 A G 9: 38,410,207 (GRCm39) M81V possibly damaging Het
Or8g21 G T 9: 38,906,494 (GRCm39) P79Q probably damaging Het
Pak5 T C 2: 135,939,499 (GRCm39) I545M possibly damaging Het
Pcdhb15 T C 18: 37,608,948 (GRCm39) F727L probably benign Het
Pds5b T A 5: 150,646,818 (GRCm39) N202K possibly damaging Het
Phlpp1 T A 1: 106,320,664 (GRCm39) I1553N probably benign Het
Pink1 T C 4: 138,045,229 (GRCm39) T282A probably damaging Het
Prdm2 A G 4: 142,838,240 (GRCm39) F1706S probably benign Het
Pycr1 G A 11: 120,532,352 (GRCm39) probably benign Het
Rigi A G 4: 40,235,257 (GRCm39) Y78H probably benign Het
Skint9 A G 4: 112,271,198 (GRCm39) S71P probably damaging Het
Smad1 A G 8: 80,098,399 (GRCm39) probably benign Het
Snapc5 A T 9: 64,087,789 (GRCm39) E33D probably damaging Het
Snrnp40 T C 4: 130,256,443 (GRCm39) L56P probably damaging Het
Stab2 A C 10: 86,708,474 (GRCm39) I1697S probably damaging Het
Tfap2a G T 13: 40,870,888 (GRCm39) probably benign Het
Tph2 A G 10: 114,916,025 (GRCm39) probably benign Het
Triml1 A G 8: 43,594,077 (GRCm39) V118A probably benign Het
Ttbk2 T A 2: 120,580,723 (GRCm39) T538S probably benign Het
Ttn A G 2: 76,545,616 (GRCm39) V32569A possibly damaging Het
U2af1 T A 17: 31,867,166 (GRCm39) Y158F probably benign Het
Usp7 A T 16: 8,534,496 (GRCm39) probably benign Het
Vdr A G 15: 97,767,232 (GRCm39) S179P probably benign Het
Vps13d A C 4: 144,792,397 (GRCm39) S663A probably benign Het
Wdr62 T A 7: 29,940,887 (GRCm39) T844S possibly damaging Het
Wipi1 C T 11: 109,467,956 (GRCm39) R407Q probably damaging Het
Zbtb43 A G 2: 33,343,909 (GRCm39) C439R probably damaging Het
Zfp507 T A 7: 35,491,171 (GRCm39) H704L probably damaging Het
Zzef1 G A 11: 72,786,068 (GRCm39) R2080K probably damaging Het
Other mutations in Iffo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Iffo1 APN 6 125,137,516 (GRCm39) missense probably damaging 0.98
IGL01964:Iffo1 APN 6 125,128,364 (GRCm39) missense probably damaging 1.00
IGL02208:Iffo1 APN 6 125,122,329 (GRCm39) missense possibly damaging 0.90
PIT4418001:Iffo1 UTSW 6 125,126,746 (GRCm39) missense possibly damaging 0.66
R0907:Iffo1 UTSW 6 125,130,124 (GRCm39) missense probably null 1.00
R1456:Iffo1 UTSW 6 125,122,877 (GRCm39) missense possibly damaging 0.91
R3979:Iffo1 UTSW 6 125,137,552 (GRCm39) unclassified probably benign
R5240:Iffo1 UTSW 6 125,129,423 (GRCm39) missense probably benign
R5654:Iffo1 UTSW 6 125,130,030 (GRCm39) missense probably damaging 0.99
R5965:Iffo1 UTSW 6 125,129,471 (GRCm39) intron probably benign
R8111:Iffo1 UTSW 6 125,122,781 (GRCm39) missense possibly damaging 0.79
R9776:Iffo1 UTSW 6 125,130,436 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGACCTTGCTACTTTGGGAGGATTTC -3'
(R):5'- CACTACTGACAACAGATGGAAGCTCG -3'

Sequencing Primer
(F):5'- AGAGGTAACCTCCCCTCCTG -3'
(R):5'- AACACACCTACAGCGTGG -3'
Posted On 2013-05-23