Incidental Mutation 'R1587:Fancc'
ID 177591
Institutional Source Beutler Lab
Gene Symbol Fancc
Ensembl Gene ENSMUSG00000021461
Gene Name Fanconi anemia, complementation group C
Synonyms Facc
MMRRC Submission 039624-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.901) question?
Stock # R1587 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 63452519-63645126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63488246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 245 (F245L)
Ref Sequence ENSEMBL: ENSMUSP00000123817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073029] [ENSMUST00000099444] [ENSMUST00000163091] [ENSMUST00000161977] [ENSMUST00000220684]
AlphaFold P50652
Predicted Effect probably benign
Transcript: ENSMUST00000073029
AA Change: F245L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461
AA Change: F245L

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 558 1.8e-305 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099444
AA Change: F148L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461
AA Change: F148L

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 461 5.8e-243 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160333
Predicted Effect probably benign
Transcript: ENSMUST00000163091
AA Change: F245L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461
AA Change: F245L

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 517 4.8e-238 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161977
AA Change: F245L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461
AA Change: F245L

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 558 1.8e-305 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160735
AA Change: F103L
SMART Domains Protein: ENSMUSP00000125710
Gene: ENSMUSG00000021461
AA Change: F103L

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 91 5.1e-37 PFAM
Pfam:Fanconi_C 86 117 5.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161656
Predicted Effect probably benign
Transcript: ENSMUST00000220684
AA Change: F245L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
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 C. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are grossly normal, but chromosome aberrations and sensitivity to DNA crosslinkers are seen. Both sexes have fewer germ cell numbers and impaired fertility. Marrow progenitors show decrease in colony forming ability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,585 (GRCm39) S111T probably benign Het
Abhd2 A T 7: 79,003,758 (GRCm39) H279L probably benign Het
Ablim1 C T 19: 57,071,979 (GRCm39) M1I probably null Het
Agrn T C 4: 156,263,897 (GRCm39) Q122R probably damaging Het
Arfgef1 A T 1: 10,230,184 (GRCm39) F1218I probably damaging Het
Bud13 C T 9: 46,201,513 (GRCm39) P395S probably damaging Het
Ccdc110 G A 8: 46,394,783 (GRCm39) V225M probably benign Het
Ccdc30 A T 4: 119,210,373 (GRCm39) S248T probably damaging Het
Cdh20 C A 1: 110,027,757 (GRCm39) Q501K probably damaging Het
Cwc27 T C 13: 104,929,145 (GRCm39) D266G probably benign Het
Cyp2d40 T A 15: 82,645,334 (GRCm39) probably null Het
Cyp4a32 T G 4: 115,467,731 (GRCm39) N238K probably benign Het
Ddx11 T C 17: 66,456,251 (GRCm39) L770P probably damaging Het
Dgcr8 C T 16: 18,098,155 (GRCm39) G412E probably damaging Het
Disp2 C A 2: 118,622,064 (GRCm39) A932D probably damaging Het
Dlg4 T A 11: 69,922,572 (GRCm39) N291K possibly damaging Het
Dnajc7 A G 11: 100,492,556 (GRCm39) I39T probably damaging Het
Elp1 G A 4: 56,786,666 (GRCm39) Q426* probably null Het
Eno3 T C 11: 70,552,296 (GRCm39) V316A probably damaging Het
Ep400 G A 5: 110,874,768 (GRCm39) T944I probably benign Het
Ezh2 T G 6: 47,529,424 (GRCm39) probably null Het
F7 A T 8: 13,084,783 (GRCm39) I270F possibly damaging Het
Fzd7 G A 1: 59,522,165 (GRCm39) C16Y possibly damaging Het
Gm29394 A G 15: 57,892,008 (GRCm39) *200Q probably null Het
Ints8 A G 4: 11,245,722 (GRCm39) probably null Het
Krt36 A T 11: 99,993,128 (GRCm39) I449N probably damaging Het
Ldlr A T 9: 21,649,209 (GRCm39) H328L probably damaging Het
Limk2 T C 11: 3,303,455 (GRCm39) N101S possibly damaging Het
Lrp4 A G 2: 91,306,650 (GRCm39) N321S probably benign Het
Mafk T C 5: 139,785,900 (GRCm39) S33P probably damaging Het
Mbtps1 T C 8: 120,244,958 (GRCm39) Y831C probably damaging Het
Mfge8 T A 7: 78,784,513 (GRCm39) I344F probably damaging Het
Myo5b T C 18: 74,867,061 (GRCm39) V1430A probably benign Het
Nbas G A 12: 13,608,686 (GRCm39) R2154H probably benign Het
Nlrp6 G A 7: 140,502,959 (GRCm39) R355H probably damaging Het
Noc4l T C 5: 110,800,889 (GRCm39) T76A probably benign Het
Nrp1 T A 8: 129,202,763 (GRCm39) C583S probably damaging Het
Or2w4 C T 13: 21,796,083 (GRCm39) D19N probably benign Het
Or5d35 T A 2: 87,855,477 (GRCm39) M137K probably damaging Het
Pgm5 T A 19: 24,793,113 (GRCm39) I318F probably damaging Het
Phf1 T A 17: 27,156,466 (GRCm39) V536D probably damaging Het
Prpf4b C A 13: 35,076,133 (GRCm39) A641D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm47 A G 5: 66,182,334 (GRCm39) I433T probably benign Het
Resf1 G T 6: 149,228,018 (GRCm39) V355F probably damaging Het
S100a3 G A 3: 90,509,618 (GRCm39) E88K probably benign Het
Sesn1 A G 10: 41,687,108 (GRCm39) I31V probably benign Het
Son T A 16: 91,456,606 (GRCm39) S1784R probably damaging Het
Srbd1 G T 17: 86,292,865 (GRCm39) D901E probably damaging Het
St8sia6 C T 2: 13,677,416 (GRCm39) D134N possibly damaging Het
Synpo2 T A 3: 122,908,047 (GRCm39) D423V probably damaging Het
Vmn2r108 A G 17: 20,692,383 (GRCm39) S158P probably damaging Het
Vmn2r109 A T 17: 20,761,002 (GRCm39) V785E probably damaging Het
Zfp143 A G 7: 109,673,275 (GRCm39) D124G probably benign Het
Zfp251 A G 15: 76,754,484 (GRCm39) L54P probably damaging Het
Zfp324 G T 7: 12,704,570 (GRCm39) S253I possibly damaging Het
Zfp59 A G 7: 27,553,559 (GRCm39) E337G possibly damaging Het
Zfp663 G T 2: 165,195,437 (GRCm39) Q261K probably benign Het
Zhx3 T C 2: 160,623,613 (GRCm39) probably null Het
Other mutations in Fancc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Fancc APN 13 63,548,059 (GRCm39) missense probably damaging 1.00
IGL00846:Fancc APN 13 63,488,270 (GRCm39) missense possibly damaging 0.89
IGL01404:Fancc APN 13 63,509,452 (GRCm39) missense probably damaging 1.00
IGL02592:Fancc APN 13 63,508,011 (GRCm39) missense probably damaging 1.00
IGL02625:Fancc APN 13 63,545,965 (GRCm39) missense probably damaging 0.99
canneloni UTSW 13 63,479,637 (GRCm39) intron probably benign
macaroni UTSW 13 63,469,679 (GRCm39) critical splice donor site probably null
R0362:Fancc UTSW 13 63,545,970 (GRCm39) missense possibly damaging 0.86
R0554:Fancc UTSW 13 63,465,283 (GRCm39) missense probably benign 0.32
R0626:Fancc UTSW 13 63,465,205 (GRCm39) missense probably damaging 0.97
R0627:Fancc UTSW 13 63,465,292 (GRCm39) missense probably damaging 0.99
R0726:Fancc UTSW 13 63,471,225 (GRCm39) missense probably benign 0.01
R0734:Fancc UTSW 13 63,479,656 (GRCm39) missense probably damaging 1.00
R1363:Fancc UTSW 13 63,509,412 (GRCm39) missense probably damaging 1.00
R1922:Fancc UTSW 13 63,478,381 (GRCm39) missense possibly damaging 0.89
R4585:Fancc UTSW 13 63,495,378 (GRCm39) missense probably benign 0.14
R4586:Fancc UTSW 13 63,495,378 (GRCm39) missense probably benign 0.14
R4608:Fancc UTSW 13 63,479,637 (GRCm39) intron probably benign
R5159:Fancc UTSW 13 63,469,679 (GRCm39) critical splice donor site probably null
R5401:Fancc UTSW 13 63,550,767 (GRCm39) missense probably damaging 1.00
R5561:Fancc UTSW 13 63,465,201 (GRCm39) missense possibly damaging 0.85
R5699:Fancc UTSW 13 63,478,446 (GRCm39) splice site probably null
R6200:Fancc UTSW 13 63,508,062 (GRCm39) missense probably damaging 1.00
R6448:Fancc UTSW 13 63,488,242 (GRCm39) missense probably damaging 0.98
R7562:Fancc UTSW 13 63,550,867 (GRCm39) splice site probably null
R7615:Fancc UTSW 13 63,465,372 (GRCm39) critical splice acceptor site probably null
R7805:Fancc UTSW 13 63,508,056 (GRCm39) missense possibly damaging 0.86
R7864:Fancc UTSW 13 63,548,073 (GRCm39) nonsense probably null
R8080:Fancc UTSW 13 63,550,837 (GRCm39) missense
R8966:Fancc UTSW 13 63,495,285 (GRCm39) missense probably benign 0.32
R8989:Fancc UTSW 13 63,548,090 (GRCm39) missense possibly damaging 0.93
R9464:Fancc UTSW 13 63,550,769 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GCAGTGAGAGGTGAGTCATACCAAC -3'
(R):5'- GGACATCACAGGGCTTTTGTTCAAC -3'

Sequencing Primer
(F):5'- CTGGGGCATTAGACACTTCTAAC -3'
(R):5'- AGGAGCCTCCATTCATGTAAG -3'
Posted On 2014-04-24