Incidental Mutation 'R4473:Fancf'
ID 330459
Institutional Source Beutler Lab
Gene Symbol Fancf
Ensembl Gene ENSMUSG00000092118
Gene Name Fanconi anemia, complementation group F
Synonyms
MMRRC Submission 041730-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R4473 (G1)
Quality Score 198
Status Validated
Chromosome 7
Chromosomal Location 51510325-51512015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51511948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 19 (C19R)
Ref Sequence ENSEMBL: ENSMUSP00000125812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000129604] [ENSMUST00000169357]
AlphaFold E9Q5Z5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107589
SMART Domains Protein: ENSMUSP00000103215
Gene: ENSMUSG00000030498

DomainStartEndE-ValueType
CH 37 153 5.69e-15 SMART
low complexity region 167 178 N/A INTRINSIC
low complexity region 181 198 N/A INTRINSIC
Pfam:GAS2 201 250 1.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132335
Predicted Effect probably benign
Transcript: ENSMUST00000169357
AA Change: C19R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125812
Gene: ENSMUSG00000092118
AA Change: C19R

DomainStartEndE-ValueType
Pfam:FANCF 1 336 3.4e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208016
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (36/36)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 C A 4: 152,291,313 (GRCm39) T93K probably damaging Het
Actg1 G A 11: 120,239,085 (GRCm39) R2C probably benign Het
Alb T C 5: 90,611,912 (GRCm39) C114R probably damaging Het
Alpk1 T C 3: 127,473,667 (GRCm39) T779A probably damaging Het
Atp2a2 A T 5: 122,595,327 (GRCm39) S1008T probably benign Het
Corin T C 5: 72,496,400 (GRCm39) S510G probably damaging Het
D630003M21Rik G A 2: 158,055,382 (GRCm39) P585L probably damaging Het
Eddm3b A G 14: 51,354,236 (GRCm39) T75A probably benign Het
Elavl2 T C 4: 91,149,246 (GRCm39) probably null Het
Erc1 G T 6: 119,825,417 (GRCm39) probably null Het
Fastkd2 T C 1: 63,770,833 (GRCm39) L63P probably damaging Het
Fmo1 A G 1: 162,677,732 (GRCm39) V128A possibly damaging Het
Ifnar1 T C 16: 91,292,058 (GRCm39) V133A probably damaging Het
Ighv1-49 A T 12: 115,018,959 (GRCm39) Y79N probably damaging Het
Klhl23 A G 2: 69,654,151 (GRCm39) E7G possibly damaging Het
Mthfd2 A G 6: 83,287,517 (GRCm39) probably benign Het
Or5d35 T A 2: 87,855,464 (GRCm39) Y133N probably damaging Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Podnl1 A T 8: 84,858,614 (GRCm39) I505F possibly damaging Het
Ppp6r3 G T 19: 3,561,978 (GRCm39) Q228K probably damaging Het
Pramel38 A G 5: 94,366,029 (GRCm39) N49S probably benign Het
Rab22a C T 2: 173,537,056 (GRCm39) T85M probably damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Skor2 C T 18: 76,947,156 (GRCm39) P293S unknown Het
Sox18 T C 2: 181,312,669 (GRCm39) K154R probably damaging Het
Tfpi A T 2: 84,288,426 (GRCm39) L10Q probably null Het
Trim66 A T 7: 109,081,202 (GRCm39) I239N probably damaging Het
Ttll1 T A 15: 83,376,810 (GRCm39) K304N probably damaging Het
Vmn1r5 G A 6: 56,962,633 (GRCm39) V103I probably benign Het
Vnn1 T C 10: 23,770,789 (GRCm39) W6R probably benign Het
Wdr35 A G 12: 9,065,995 (GRCm39) Y651C 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
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
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'- AACGTGTCCAGGAGTTTGCG -3'
(R):5'- GAAACCATGGTGCGAGACTG -3'

Sequencing Primer
(F):5'- GGAACAGCAAGCTCGGC -3'
(R):5'- CATGGTGCGAGACTGACACG -3'
Posted On 2015-07-21