Incidental Mutation 'R0478:Fancf'
ID 177938
Institutional Source Beutler Lab
Gene Symbol Fancf
Ensembl Gene ENSMUSG00000092118
Gene Name Fanconi anemia, complementation group F
Synonyms
MMRRC Submission 038678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R0478 (G1)
Quality Score 61
Status Validated
Chromosome 7
Chromosomal Location 51510325-51512015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 51511440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 188 (L188R)
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 damaging
Transcript: ENSMUST00000169357
AA Change: L188R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125812
Gene: ENSMUSG00000092118
AA Change: L188R

DomainStartEndE-ValueType
Pfam:FANCF 1 336 3.4e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208016
Meta Mutation Damage Score 0.7113 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,262,014 (GRCm39) noncoding transcript Het
4930556J24Rik T G 11: 3,926,259 (GRCm39) probably benign Het
Acnat1 T G 4: 49,450,901 (GRCm39) D70A probably damaging Het
Adnp2 A G 18: 80,172,549 (GRCm39) V620A probably benign Het
Aldoart1 T A 4: 72,770,580 (GRCm39) H21L probably benign Het
Birc2 A G 9: 7,860,348 (GRCm39) V290A probably damaging Het
Bpifb3 C T 2: 153,773,400 (GRCm39) probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Clmn A G 12: 104,751,750 (GRCm39) M235T probably damaging Het
Dmbt1 A G 7: 130,642,917 (GRCm39) E245G possibly damaging Het
Epgn G T 5: 91,178,987 (GRCm39) V36L probably benign Het
Ets2 C A 16: 95,517,306 (GRCm39) P346Q probably damaging Het
Fam222b T C 11: 78,044,682 (GRCm39) L81P probably damaging Het
Fibin T C 2: 110,193,079 (GRCm39) D21G possibly damaging Het
Fzd6 A G 15: 38,897,429 (GRCm39) probably null Het
Gbp4 T A 5: 105,267,299 (GRCm39) Q540L probably benign Het
Greb1l T A 18: 10,509,281 (GRCm39) L531Q probably damaging Het
Il5ra A G 6: 106,715,423 (GRCm39) V137A probably benign Het
Kif26a G A 12: 112,142,223 (GRCm39) A826T probably damaging Het
Kiz T C 2: 146,784,078 (GRCm39) V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 (GRCm39) G15D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lbp T C 2: 158,159,448 (GRCm39) probably benign Het
Mmp25 T C 17: 23,851,756 (GRCm39) T318A probably benign Het
Mrpl50 A G 4: 49,514,513 (GRCm39) C53R probably damaging Het
Msl3l2 G C 10: 55,991,411 (GRCm39) E45D probably damaging Het
Nfxl1 A G 5: 72,681,988 (GRCm39) probably null Het
Noc3l A G 19: 38,798,450 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,370 (GRCm39) V287E probably damaging Het
Or1x6 T C 11: 50,939,539 (GRCm39) S202P probably benign Het
Pgm5 A T 19: 24,812,233 (GRCm39) S100T possibly damaging Het
Pi4ka C T 16: 17,127,175 (GRCm39) G1093S possibly damaging Het
Pitrm1 T A 13: 6,609,431 (GRCm39) S350T probably damaging Het
Ptk2b G T 14: 66,450,821 (GRCm39) N48K probably damaging Het
Septin3 T C 15: 82,175,007 (GRCm39) L172P probably damaging Het
Sirt3 A T 7: 140,458,027 (GRCm39) C41S Het
Sphkap C T 1: 83,256,432 (GRCm39) R152H probably damaging Het
St3gal1 T C 15: 66,985,579 (GRCm39) Y25C probably damaging Het
Tbc1d31 T C 15: 57,795,932 (GRCm39) F175S probably damaging Het
Tfdp2 T A 9: 96,172,636 (GRCm39) D43E probably benign Het
Tgm1 G A 14: 55,937,791 (GRCm39) Q773* probably null Het
Tmc3 A T 7: 83,271,360 (GRCm39) R837S possibly damaging Het
Unc13a A G 8: 72,103,792 (GRCm39) V880A possibly damaging Het
Vmn1r237 T A 17: 21,535,081 (GRCm39) V268E probably damaging Het
Zan C T 5: 137,398,788 (GRCm39) probably benign Het
Zfp760 G T 17: 21,940,995 (GRCm39) E57* probably null Het
Other mutations in Fancf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Fancf APN 7 51,511,035 (GRCm39) missense probably benign 0.40
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
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'- TTGTGAGCAGGTCCAGGTAGGC -3'
(R):5'- CAAACCGAGCGATTCTCCGAGC -3'

Sequencing Primer
(F):5'- ACAGTGCGTGGTGGCAG -3'
(R):5'- ACGTGTACCGACGCTTC -3'
Posted On 2014-05-05