Incidental Mutation 'R9347:Fancf'
ID 707850
Institutional Source Beutler Lab
Gene Symbol Fancf
Ensembl Gene ENSMUSG00000092118
Gene Name Fanconi anemia, complementation group F
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R9347 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 51510325-51512015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51511359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 215 (E215G)
Ref Sequence ENSEMBL: ENSMUSP00000125812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000129604] [ENSMUST00000169357]
AlphaFold E9Q5Z5
Predicted Effect probably benign
Transcript: ENSMUST00000129604
Predicted Effect probably benign
Transcript: ENSMUST00000169357
AA Change: E215G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125812
Gene: ENSMUSG00000092118
AA Change: E215G

DomainStartEndE-ValueType
Pfam:FANCF 1 336 3.4e-105 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,483,479 (GRCm39) M1659K probably benign Het
Ace C A 11: 105,864,958 (GRCm39) Q544K probably damaging Het
Agpat4 A G 17: 12,429,168 (GRCm39) E140G possibly damaging Het
Akap12 A G 10: 4,303,640 (GRCm39) D150G probably benign Het
Akap6 A G 12: 53,115,894 (GRCm39) Y999C probably damaging Het
Ank1 A G 8: 23,607,076 (GRCm39) I1326V possibly damaging Het
Apold1 T A 6: 134,960,999 (GRCm39) L151Q probably damaging Het
Bmal1 A G 7: 112,898,487 (GRCm39) D305G possibly damaging Het
Brsk2 A G 7: 141,552,133 (GRCm39) S564G probably damaging Het
Ceacam18 T C 7: 43,294,915 (GRCm39) V325A possibly damaging Het
Clstn2 T C 9: 97,464,654 (GRCm39) Y167C probably damaging Het
Cyp11a1 G T 9: 57,928,141 (GRCm39) V324L possibly damaging Het
Ddx27 A G 2: 166,861,950 (GRCm39) T151A possibly damaging Het
Dhrs4 A G 14: 55,727,306 (GRCm39) I252M possibly damaging Het
Dlg2 A G 7: 91,360,900 (GRCm39) D6G probably benign Het
Dnah8 G A 17: 30,927,333 (GRCm39) E1330K probably benign Het
Ehd3 A G 17: 74,137,391 (GRCm39) E520G probably benign Het
Epha5 A G 5: 84,479,731 (GRCm39) V91A possibly damaging Het
Fam20c C A 5: 138,743,676 (GRCm39) H237Q probably benign Het
Fam217a C T 13: 35,094,662 (GRCm39) G366S probably damaging Het
Fermt3 A T 19: 6,980,664 (GRCm39) I301N probably damaging Het
Fyco1 A T 9: 123,660,350 (GRCm39) probably null Het
Gen1 T C 12: 11,311,068 (GRCm39) N55D probably damaging Het
Gm20604 A T 12: 102,709,636 (GRCm39) C75S unknown Het
Gm3045 T A 13: 56,578,160 (GRCm39) V199D unknown Het
Gm49368 A G 7: 127,712,178 (GRCm39) T805A possibly damaging Het
Hgf T C 5: 16,809,921 (GRCm39) probably null Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Ift140 A G 17: 25,313,753 (GRCm39) M1395V probably benign Het
Il17rc T G 6: 113,457,780 (GRCm39) probably null Het
Kansl1l T A 1: 66,840,347 (GRCm39) T318S probably benign Het
Kcnc1 A T 7: 46,077,034 (GRCm39) N279Y probably damaging Het
Khdrbs2 T A 1: 32,511,828 (GRCm39) H264Q probably benign Het
Klf12 A G 14: 100,260,144 (GRCm39) V195A possibly damaging Het
Lhfpl2 A G 13: 94,328,539 (GRCm39) E200G probably damaging Het
Lmna T C 3: 88,393,548 (GRCm39) D300G probably damaging Het
Lrif1 A G 3: 106,641,674 (GRCm39) T17A possibly damaging Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mga T A 2: 119,733,518 (GRCm39) I122N probably damaging Het
Mos A G 4: 3,871,763 (GRCm39) S18P probably benign Het
Mterf3 C T 13: 67,062,852 (GRCm39) V295I possibly damaging Het
Muc16 G A 9: 18,571,511 (GRCm39) T336I unknown Het
Myo15a T C 11: 60,374,555 (GRCm39) S136P Het
Nav3 T A 10: 109,738,955 (GRCm39) I128F probably damaging Het
Nphs1 A G 7: 30,170,594 (GRCm39) D928G probably damaging Het
Or52z15 A G 7: 103,332,464 (GRCm39) I180V probably damaging Het
Or5b114-ps1 A T 19: 13,352,553 (GRCm39) T76S possibly damaging Het
Or5m13b T A 2: 85,753,819 (GRCm39) V69E probably damaging Het
Or5p70 A G 7: 107,995,259 (GRCm39) K311E probably benign Het
Or8u10 T C 2: 85,915,911 (GRCm39) D70G possibly damaging Het
Parvb T C 15: 84,155,523 (GRCm39) probably null Het
Patj A C 4: 98,576,484 (GRCm39) E574A probably benign Het
Ppp2r1a A G 17: 21,181,877 (GRCm39) N465S probably benign Het
Pramel34 T A 5: 93,786,697 (GRCm39) E24V probably damaging Het
Senp6 A G 9: 80,046,379 (GRCm39) K950E possibly damaging Het
Septin12 T C 16: 4,805,481 (GRCm39) H304R probably damaging Het
Septin3 T C 15: 82,167,914 (GRCm39) V110A probably damaging Het
Slc25a35 G T 11: 68,862,076 (GRCm39) V170L probably benign Het
Slco3a1 A T 7: 73,934,153 (GRCm39) L673Q possibly damaging Het
Smim35 A G 9: 45,154,271 (GRCm39) N44S possibly damaging Het
Tcp1 A G 17: 13,136,687 (GRCm39) M23V probably benign Het
Thg1l T C 11: 45,845,288 (GRCm39) probably benign Het
Tiam2 G A 17: 3,471,923 (GRCm39) E522K probably benign Het
Tie1 G A 4: 118,341,867 (GRCm39) T194I possibly damaging Het
Vmn2r49 T A 7: 9,718,674 (GRCm39) E463D probably benign Het
Wdr1 C A 5: 38,697,355 (GRCm39) probably null Het
Zbtb38 A T 9: 96,567,649 (GRCm39) M1145K probably damaging Het
Other mutations in Fancf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Fancf APN 7 51,511,035 (GRCm39) missense probably benign 0.40
R0478:Fancf UTSW 7 51,511,440 (GRCm39) missense probably damaging 1.00
R4473:Fancf UTSW 7 51,511,948 (GRCm39) missense probably benign 0.01
R4969:Fancf UTSW 7 51,511,196 (GRCm39) nonsense probably null
R7302:Fancf UTSW 7 51,511,452 (GRCm39) missense probably damaging 0.96
R7510:Fancf UTSW 7 51,511,953 (GRCm39) missense probably damaging 1.00
R8486:Fancf UTSW 7 51,511,632 (GRCm39) missense probably benign 0.05
X0063:Fancf UTSW 7 51,511,203 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGATCATAGTGCAGCCG -3'
(R):5'- GTTATCTGCTCCACGTGTACCG -3'

Sequencing Primer
(F):5'- ATAGTGCAGCCGCGTGG -3'
(R):5'- GCTGCCGAGCTTGCTGTTC -3'
Posted On 2022-04-18