Incidental Mutation 'IGL01302:Fancf'
ID 73272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancf
Ensembl Gene ENSMUSG00000092118
Gene Name Fanconi anemia, complementation group F
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL01302
Quality Score
Status
Chromosome 7
Chromosomal Location 51510325-51512015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51511035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 323 (V323A)
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: V323A

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125812
Gene: ENSMUSG00000092118
AA Change: V323A

DomainStartEndE-ValueType
Pfam:FANCF 1 336 3.4e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208016
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,470 (GRCm39) probably benign Het
Abcb5 T A 12: 118,881,935 (GRCm39) D598V probably damaging Het
Adss1 T C 12: 112,601,170 (GRCm39) probably benign Het
Akap9 T A 5: 4,020,711 (GRCm39) S1141T probably benign Het
Avil T C 10: 126,852,903 (GRCm39) probably null Het
Avl9 C A 6: 56,702,075 (GRCm39) H77N probably damaging Het
Cacna1e A G 1: 154,319,653 (GRCm39) V1349A probably damaging Het
Cdc23 A C 18: 34,767,697 (GRCm39) S483A probably benign Het
Cep192 C T 18: 67,991,974 (GRCm39) P1951S probably benign Het
Cp A G 3: 20,020,531 (GRCm39) T175A probably damaging Het
Dubr A C 16: 50,552,998 (GRCm39) noncoding transcript Het
Eif4g2 G T 7: 110,673,920 (GRCm39) Q695K possibly damaging Het
Endod1 A T 9: 14,268,535 (GRCm39) S317T possibly damaging Het
Ep400 T C 5: 110,889,914 (GRCm39) T450A probably benign Het
Erc1 A C 6: 119,699,264 (GRCm39) V790G probably damaging Het
Fam222a T A 5: 114,732,514 (GRCm39) L23Q possibly damaging Het
Grik2 T A 10: 49,120,426 (GRCm39) Q621L probably damaging Het
Gsk3b G T 16: 38,040,380 (GRCm39) R319L probably benign Het
Ikzf1 A G 11: 11,718,923 (GRCm39) Y297C probably damaging Het
Katnal2 T C 18: 77,134,863 (GRCm39) probably benign Het
Lrba G T 3: 86,202,707 (GRCm39) C289F probably damaging Het
Mos T C 4: 3,871,815 (GRCm39) probably benign Het
Mycn T C 12: 12,987,587 (GRCm39) D270G possibly damaging Het
Or52e15 A T 7: 104,645,928 (GRCm39) M61K probably damaging Het
Or6c207 T A 10: 129,104,392 (GRCm39) I267F probably benign Het
Pclo A G 5: 14,726,013 (GRCm39) probably benign Het
Pgm1 A G 4: 99,786,803 (GRCm39) D14G probably damaging Het
Pramel7 T A 2: 87,321,717 (GRCm39) D106V possibly damaging Het
Prdm9 G T 17: 15,773,608 (GRCm39) H263N probably benign Het
Psd4 T A 2: 24,286,799 (GRCm39) probably null Het
Ptprc G A 1: 138,027,369 (GRCm39) T493I possibly damaging Het
Rbbp8 T A 18: 11,855,036 (GRCm39) S420R probably benign Het
Sap30bp A G 11: 115,853,373 (GRCm39) T219A probably damaging Het
Shld2 C T 14: 33,981,684 (GRCm39) V485I probably benign Het
Slc2a7 T A 4: 150,242,021 (GRCm39) L200Q probably damaging Het
Slc38a6 T A 12: 73,335,299 (GRCm39) probably null Het
Tatdn2 T A 6: 113,680,985 (GRCm39) probably benign Het
Thrb A G 14: 18,011,056 (GRCm38) probably benign Het
Timp4 T C 6: 115,223,269 (GRCm39) Y218C possibly damaging Het
Tlr5 A G 1: 182,802,313 (GRCm39) D525G probably benign Het
Usp32 G T 11: 84,879,308 (GRCm39) T1467N probably benign Het
Vmn2r78 A G 7: 86,564,569 (GRCm39) I5V unknown Het
Zbtb43 T C 2: 33,344,103 (GRCm39) H374R probably benign Het
Zfhx4 C A 3: 5,308,628 (GRCm39) T618K probably damaging Het
Other mutations in Fancf
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07