Incidental Mutation 'R8486:Fancf'
ID 657740
Institutional Source Beutler Lab
Gene Symbol Fancf
Ensembl Gene ENSMUSG00000092118
Gene Name Fanconi anemia, complementation group F
Synonyms
MMRRC Submission 067929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8486 (G1)
Quality Score 107.008
Status Not validated
Chromosome 7
Chromosomal Location 51510325-51512015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51511632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 124 (V124A)
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: V124A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125812
Gene: ENSMUSG00000092118
AA Change: V124A

DomainStartEndE-ValueType
Pfam:FANCF 1 336 3.4e-105 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,225,092 (GRCm39) S524G probably benign Het
Abca8b A T 11: 109,857,937 (GRCm39) I546N possibly damaging Het
Abcd4 C T 12: 84,650,752 (GRCm39) R532H probably damaging Het
Acsf2 A T 11: 94,460,786 (GRCm39) D373E probably damaging Het
Acsm1 A G 7: 119,259,880 (GRCm39) T510A probably damaging Het
Adam21 C T 12: 81,607,550 (GRCm39) V71I probably benign Het
Adgra3 T C 5: 50,147,621 (GRCm39) D473G probably damaging Het
Agbl2 G A 2: 90,631,499 (GRCm39) V286I possibly damaging Het
Alkbh8 A G 9: 3,344,642 (GRCm39) E141G probably null Het
Arhgap21 T C 2: 20,865,236 (GRCm39) D952G probably damaging Het
Asb4 A T 6: 5,390,653 (GRCm39) K15N possibly damaging Het
Cert1 T C 13: 96,770,690 (GRCm39) V533A probably damaging Het
Clip1 G T 5: 123,752,770 (GRCm39) probably benign Het
Clip4 T C 17: 72,170,839 (GRCm39) probably benign Het
Cyp2b10 T C 7: 25,614,306 (GRCm39) V260A probably benign Het
Dnm1 C T 2: 32,224,739 (GRCm39) M430I probably benign Het
Dpp7 T C 2: 25,242,561 (GRCm39) D464G probably damaging Het
Dspp A G 5: 104,321,883 (GRCm39) probably benign Het
Ephb1 A C 9: 101,841,164 (GRCm39) D730E probably benign Het
Fgfr2 G A 7: 129,765,745 (GRCm39) P692S possibly damaging Het
Fkbp15 G A 4: 62,230,521 (GRCm39) R731* probably null Het
Fos T C 12: 85,522,805 (GRCm39) F239S probably benign Het
Fuz T C 7: 44,548,092 (GRCm39) Y107H probably damaging Het
Gm3159 A C 14: 4,400,520 (GRCm38) N193T probably damaging Het
Helz2 T A 2: 180,871,124 (GRCm39) D2771V probably damaging Het
Ighv1-18 T A 12: 114,646,325 (GRCm39) K92M probably damaging Het
Kcnh3 A G 15: 99,136,091 (GRCm39) Y696C probably damaging Het
Klf15 T A 6: 90,444,160 (GRCm39) V245D probably damaging Het
L1td1 C T 4: 98,625,911 (GRCm39) A702V probably damaging Het
Lamc2 A G 1: 153,034,637 (GRCm39) M122T probably benign Het
Lrp1b A G 2: 41,618,702 (GRCm39) L124P probably damaging Het
Mcrs1 G T 15: 99,146,349 (GRCm39) Y85* probably null Het
Mgst1 A T 6: 138,120,026 (GRCm39) I29L probably benign Het
Miga1 C T 3: 151,982,390 (GRCm39) R562H probably damaging Het
Mybpc3 T C 2: 90,959,117 (GRCm39) W687R probably damaging Het
Myh11 G T 16: 14,022,532 (GRCm39) A1682D possibly damaging Het
Nes T C 3: 87,887,320 (GRCm39) S1816P probably damaging Het
Or52p1 T C 7: 104,267,069 (GRCm39) V69A possibly damaging Het
Or5c1 T G 2: 37,222,662 (GRCm39) V301G probably damaging Het
Pkhd1l1 T G 15: 44,410,812 (GRCm39) F2773C probably damaging Het
Pkp1 C G 1: 135,846,714 (GRCm39) E13Q probably damaging Het
Ppp2r2b T C 18: 43,031,869 (GRCm39) D4G probably benign Het
Ppp6r3 G A 19: 3,537,072 (GRCm39) H455Y probably benign Het
R3hdm1 A G 1: 128,106,657 (GRCm39) R202G probably benign Het
Sgcz T G 8: 38,190,207 (GRCm39) K106N probably benign Het
Slc13a4 T C 6: 35,247,304 (GRCm39) Y572C probably damaging Het
Syne2 C T 12: 76,088,881 (GRCm39) Q5080* probably null Het
Tpst2 C T 5: 112,456,171 (GRCm39) Q5* probably null Het
Ttn T A 2: 76,561,877 (GRCm39) T28908S possibly damaging Het
Vmn1r120 C T 7: 20,787,027 (GRCm39) R228H probably benign Het
Vmn2r3 T C 3: 64,186,370 (GRCm39) N105S probably damaging Het
Zfp521 T C 18: 13,979,829 (GRCm39) T195A probably damaging Het
Zfp616 T A 11: 73,974,909 (GRCm39) S484T probably benign 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
R9347:Fancf UTSW 7 51,511,359 (GRCm39) missense probably benign 0.01
X0063:Fancf UTSW 7 51,511,203 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGCGCAGTAGTTTCTGTGTC -3'
(R):5'- TATCTGCTCCACGTGTACCGAC -3'

Sequencing Primer
(F):5'- TTCGGCAGTCACGTCGAG -3'
(R):5'- ACGTGTACCGACGCTTCG -3'
Posted On 2021-01-18