Incidental Mutation 'R7615:Fancc'
ID 588874
Institutional Source Beutler Lab
Gene Symbol Fancc
Ensembl Gene ENSMUSG00000021461
Gene Name Fanconi anemia, complementation group C
Synonyms Facc
MMRRC Submission 045683-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R7615 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 63285043-63497278 bp(-) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 63317558 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073029] [ENSMUST00000099444] [ENSMUST00000161977] [ENSMUST00000163091] [ENSMUST00000220684]
AlphaFold P50652
Predicted Effect probably null
Transcript: ENSMUST00000073029
SMART Domains Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461

Pfam:Fanconi_C 1 558 1.8e-305 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000099444
SMART Domains Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461

Pfam:Fanconi_C 1 461 5.8e-243 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159152
SMART Domains Protein: ENSMUSP00000124560
Gene: ENSMUSG00000021458

Leuk-A4-hydro_C 1 113 4.63e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161977
SMART Domains Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461

Pfam:Fanconi_C 1 558 1.8e-305 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163091
SMART Domains Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461

Pfam:Fanconi_C 1 517 4.8e-238 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220684
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (101/101)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,497,849 (GRCm38) I320V possibly damaging Het
Adat2 A G 10: 13,553,276 (GRCm38) K4R probably benign Het
Adgb G A 10: 10,436,010 (GRCm38) L226F probably damaging Het
Adgrb3 C T 1: 25,098,897 (GRCm38) V1192I probably damaging Het
Ahsa2 T A 11: 23,496,750 (GRCm38) N71I possibly damaging Het
Amigo2 T G 15: 97,245,342 (GRCm38) T400P probably damaging Het
Ankhd1 A T 18: 36,656,773 (GRCm38) Q466L Het
Auh T C 13: 52,919,013 (GRCm38) I111V probably benign Het
Brwd1 A G 16: 96,033,839 (GRCm38) F942L probably damaging Het
C1qtnf7 A G 5: 43,616,144 (GRCm38) N262D probably damaging Het
Cdh9 T A 15: 16,856,230 (GRCm38) S785R probably damaging Het
Celsr3 A G 9: 108,837,652 (GRCm38) T2046A possibly damaging Het
Cep170b T C 12: 112,744,665 (GRCm38) V1493A probably damaging Het
Cep290 C T 10: 100,492,681 (GRCm38) R111W probably benign Het
Chd2 T A 7: 73,441,642 (GRCm38) H1617L probably damaging Het
Clnk T C 5: 38,706,698 (GRCm38) D404G probably damaging Het
Col18a1 C T 10: 77,067,005 (GRCm38) G795D probably damaging Het
Csf3r T A 4: 126,037,656 (GRCm38) Y477* probably null Het
Ddx58 T A 4: 40,229,653 (GRCm38) I89F possibly damaging Het
Dnah17 T A 11: 118,110,547 (GRCm38) K857* probably null Het
Dnah2 T G 11: 69,435,304 (GRCm38) I3674L probably damaging Het
Dnah6 A C 6: 73,095,206 (GRCm38) I2431S possibly damaging Het
Eml6 T A 11: 29,802,501 (GRCm38) I971F possibly damaging Het
Fam135b A T 15: 71,463,323 (GRCm38) I674N probably damaging Het
Gabrb2 A C 11: 42,626,742 (GRCm38) K464Q probably benign Het
Gbp4 T A 5: 105,122,982 (GRCm38) D261V possibly damaging Het
Gdf3 A G 6: 122,606,916 (GRCm38) V164A probably benign Het
Gm19410 A G 8: 35,796,359 (GRCm38) D978G probably damaging Het
Gm20730 C T 6: 43,081,774 (GRCm38) G35R probably null Het
Gm9733 A G 3: 15,320,485 (GRCm38) V119A probably damaging Het
Grin2b G A 6: 135,923,364 (GRCm38) T173I probably damaging Het
Gtf3c3 A T 1: 54,423,572 (GRCm38) V344E possibly damaging Het
Hsd3b5 A G 3: 98,630,104 (GRCm38) I32T probably damaging Het
Ido1 G C 8: 24,593,188 (GRCm38) L74V probably damaging Het
Igkv1-88 T A 6: 68,862,373 (GRCm38) D85V probably damaging Het
Il22ra1 A G 4: 135,737,459 (GRCm38) I159V probably benign Het
Iqgap1 A G 7: 80,751,346 (GRCm38) V531A probably benign Het
Iqgap1 A T 7: 80,730,100 (GRCm38) F1175Y probably damaging Het
Itga1 T A 13: 114,996,922 (GRCm38) Q484L probably null Het
Itga11 A T 9: 62,744,018 (GRCm38) E281V probably benign Het
Kpna3 T C 14: 61,372,962 (GRCm38) N343S possibly damaging Het
Larp1b A G 3: 41,035,816 (GRCm38) N133S probably benign Het
Larp1b A G 3: 41,033,534 (GRCm38) K64E possibly damaging Het
Lctl T A 9: 64,122,110 (GRCm38) L161H probably damaging Het
Mlip A G 9: 77,230,483 (GRCm38) S381P probably damaging Het
Mroh9 A G 1: 163,046,032 (GRCm38) I518T probably benign Het
Mst1r A G 9: 107,920,012 (GRCm38) Q1360R probably benign Het
Muc5b T A 7: 141,864,892 (GRCm38) C3858* probably null Het
Naip1 A T 13: 100,425,776 (GRCm38) H960Q probably benign Het
Narfl C T 17: 25,782,129 (GRCm38) P452S probably benign Het
Neo1 A T 9: 58,884,503 (GRCm38) S1321T probably benign Het
Nid2 C A 14: 19,802,530 (GRCm38) T1102K probably damaging Het
Nsmaf C T 4: 6,408,563 (GRCm38) V739M probably damaging Het
Olfr1019 T A 2: 85,841,657 (GRCm38) M45L probably benign Het
Olfr1167 T C 2: 88,149,518 (GRCm38) Q167R probably benign Het
Olfr1464-ps1 A G 19: 13,282,590 (GRCm38) I156T probably damaging Het
Olfr727 T G 14: 50,126,989 (GRCm38) S137R probably benign Het
Olfr97 T G 17: 37,231,450 (GRCm38) K307Q probably benign Het
Osbpl9 G A 4: 109,086,339 (GRCm38) P159S probably damaging Het
Parpbp A G 10: 88,093,637 (GRCm38) S450P probably damaging Het
Pdgfrb A G 18: 61,064,046 (GRCm38) T185A probably benign Het
Pkd1 T C 17: 24,593,502 (GRCm38) V3803A probably damaging Het
Plau A T 14: 20,839,466 (GRCm38) K200* probably null Het
Plce1 A T 19: 38,524,665 (GRCm38) Q136L probably benign Het
Plekhd1 C T 12: 80,722,445 (GRCm38) T493I probably benign Het
Pofut1 T C 2: 153,259,418 (GRCm38) S31P unknown Het
Prlr T A 15: 10,325,924 (GRCm38) I243N probably damaging Het
Ptgis A G 2: 167,223,988 (GRCm38) L174P probably damaging Het
Ralgapb T A 2: 158,450,270 (GRCm38) I792K probably damaging Het
Retreg3 C T 11: 101,102,980 (GRCm38) S136N probably damaging Het
Rnf213 C T 11: 119,467,297 (GRCm38) T4291M Het
Rtn1 A G 12: 72,304,143 (GRCm38) Y431H probably damaging Het
Rwdd3 A G 3: 121,171,604 (GRCm38) probably benign Het
Scyl3 A T 1: 163,950,338 (GRCm38) probably null Het
Sh2b2 G T 5: 136,219,657 (GRCm38) Q510K probably damaging Het
Sh2b3 G A 5: 121,818,700 (GRCm38) P333S probably benign Het
Slc27a6 A T 18: 58,609,183 (GRCm38) N490Y probably damaging Het
Slc45a1 C T 4: 150,638,545 (GRCm38) R294Q probably benign Het
Sorl1 A C 9: 41,977,582 (GRCm38) I1974S possibly damaging Het
Specc1l C A 10: 75,263,286 (GRCm38) N857K probably benign Het
Speg T C 1: 75,429,242 (GRCm38) L3030P probably damaging Het
Spsb1 A C 4: 149,906,900 (GRCm38) D70E probably benign Het
Srsf11 A G 3: 158,016,425 (GRCm38) S270P unknown Het
Ssr3 A C 3: 65,387,792 (GRCm38) V100G probably damaging Het
Synpo G A 18: 60,604,475 (GRCm38) T133I probably damaging Het
Tas2r120 T G 6: 132,657,810 (GRCm38) V285G probably benign Het
Tenm4 T A 7: 96,845,926 (GRCm38) V1187D probably damaging Het
Tmed8 C A 12: 87,181,388 (GRCm38) probably null Het
Tmem51 G A 4: 142,037,564 (GRCm38) T61M probably damaging Het
Tonsl A T 15: 76,630,607 (GRCm38) D1132E probably benign Het
Tor1aip1 C T 1: 156,007,584 (GRCm38) V358I possibly damaging Het
Txlna A T 4: 129,630,319 (GRCm38) M415K probably damaging Het
Tyms T A 5: 30,073,560 (GRCm38) probably benign Het
Uggt2 G T 14: 119,089,269 (GRCm38) L177I probably benign Het
Uqcrh T C 4: 116,069,879 (GRCm38) H74R probably benign Het
Wnk1 A T 6: 119,932,738 (GRCm38) S33T probably benign Het
Zfp553 T A 7: 127,236,016 (GRCm38) C248S probably damaging Het
Zfp574 G A 7: 25,080,576 (GRCm38) C341Y possibly damaging Het
Zfp729b T C 13: 67,591,498 (GRCm38) T883A possibly damaging Het
Zfp738 T A 13: 67,670,203 (GRCm38) K556N probably damaging Het
Other mutations in Fancc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Fancc APN 13 63,400,245 (GRCm38) missense probably damaging 1.00
IGL00846:Fancc APN 13 63,340,456 (GRCm38) missense possibly damaging 0.89
IGL01404:Fancc APN 13 63,361,638 (GRCm38) missense probably damaging 1.00
IGL02592:Fancc APN 13 63,360,197 (GRCm38) missense probably damaging 1.00
IGL02625:Fancc APN 13 63,398,151 (GRCm38) missense probably damaging 0.99
canneloni UTSW 13 63,331,823 (GRCm38) intron probably benign
macaroni UTSW 13 63,321,865 (GRCm38) critical splice donor site probably null
R0362:Fancc UTSW 13 63,398,156 (GRCm38) missense possibly damaging 0.86
R0554:Fancc UTSW 13 63,317,469 (GRCm38) missense probably benign 0.32
R0626:Fancc UTSW 13 63,317,391 (GRCm38) missense probably damaging 0.97
R0627:Fancc UTSW 13 63,317,478 (GRCm38) missense probably damaging 0.99
R0726:Fancc UTSW 13 63,323,411 (GRCm38) missense probably benign 0.01
R0734:Fancc UTSW 13 63,331,842 (GRCm38) missense probably damaging 1.00
R1363:Fancc UTSW 13 63,361,598 (GRCm38) missense probably damaging 1.00
R1587:Fancc UTSW 13 63,340,432 (GRCm38) missense probably benign 0.32
R1922:Fancc UTSW 13 63,330,567 (GRCm38) missense possibly damaging 0.89
R4585:Fancc UTSW 13 63,347,564 (GRCm38) missense probably benign 0.14
R4586:Fancc UTSW 13 63,347,564 (GRCm38) missense probably benign 0.14
R4608:Fancc UTSW 13 63,331,823 (GRCm38) intron probably benign
R5159:Fancc UTSW 13 63,321,865 (GRCm38) critical splice donor site probably null
R5401:Fancc UTSW 13 63,402,953 (GRCm38) missense probably damaging 1.00
R5561:Fancc UTSW 13 63,317,387 (GRCm38) missense possibly damaging 0.85
R5699:Fancc UTSW 13 63,330,632 (GRCm38) splice site probably null
R6200:Fancc UTSW 13 63,360,248 (GRCm38) missense probably damaging 1.00
R6448:Fancc UTSW 13 63,340,428 (GRCm38) missense probably damaging 0.98
R7562:Fancc UTSW 13 63,403,053 (GRCm38) splice site probably null
R7805:Fancc UTSW 13 63,360,242 (GRCm38) missense possibly damaging 0.86
R7864:Fancc UTSW 13 63,400,259 (GRCm38) nonsense probably null
R8080:Fancc UTSW 13 63,403,023 (GRCm38) missense
R8966:Fancc UTSW 13 63,347,471 (GRCm38) missense probably benign 0.32
R8989:Fancc UTSW 13 63,400,276 (GRCm38) missense possibly damaging 0.93
R9464:Fancc UTSW 13 63,402,955 (GRCm38) missense possibly damaging 0.71
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24