Incidental Mutation 'IGL02592:Fancc'
ID299769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancc
Ensembl Gene ENSMUSG00000021461
Gene NameFanconi anemia, complementation group C
SynonymsFacc
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.855) question?
Stock #IGL02592
Quality Score
Status
Chromosome13
Chromosomal Location63285043-63497278 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 63360197 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 175 (R175W)
Ref Sequence ENSEMBL: ENSMUSP00000124406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073029] [ENSMUST00000099444] [ENSMUST00000159024] [ENSMUST00000161977] [ENSMUST00000162375] [ENSMUST00000162971] [ENSMUST00000163091] [ENSMUST00000220684]
Predicted Effect probably damaging
Transcript: ENSMUST00000073029
AA Change: R175W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461
AA Change: R175W

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 558 1.8e-305 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099444
AA Change: R78W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461
AA Change: R78W

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 461 5.8e-243 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000159024
AA Change: R192W
SMART Domains Protein: ENSMUSP00000124325
Gene: ENSMUSG00000021461
AA Change: R192W

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 199 1.8e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160333
Predicted Effect unknown
Transcript: ENSMUST00000160735
AA Change: R88W
SMART Domains Protein: ENSMUSP00000125710
Gene: ENSMUSG00000021461
AA Change: R88W

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: ENSMUST00000161507
Predicted Effect probably damaging
Transcript: ENSMUST00000161977
AA Change: R175W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461
AA Change: R175W

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 558 1.8e-305 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162375
AA Change: R175W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124759
Gene: ENSMUSG00000021461
AA Change: R175W

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 212 1.6e-125 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162971
AA Change: R175W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123972
Gene: ENSMUSG00000021461
AA Change: R175W

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 229 5.7e-136 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163091
AA Change: R175W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461
AA Change: R175W

DomainStartEndE-ValueType
Pfam:Fanconi_C 1 517 4.8e-238 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220684
AA Change: R175W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221054
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 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadps G A 14: 12,473,465 R899C probably damaging Het
Cass4 T C 2: 172,416,328 L82P probably benign Het
Cd53 C A 3: 106,763,285 C144F probably damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gpr149 T C 3: 62,603,810 D256G possibly damaging Het
Kdm5b T A 1: 134,624,853 M1189K probably damaging Het
Lvrn T A 18: 46,850,591 C134S probably damaging Het
Mroh8 A T 2: 157,216,969 Y926N probably damaging Het
Nfxl1 A G 5: 72,514,229 S896P probably benign Het
Orc4 A T 2: 48,933,078 probably null Het
Pcsk6 T A 7: 65,969,028 H447Q probably damaging Het
Rfx6 C A 10: 51,716,023 Q121K probably damaging Het
Rnase6 T C 14: 51,130,525 Y125H probably benign Het
Sbno1 A T 5: 124,400,809 Y494N probably damaging Het
Sppl3 G A 5: 115,095,911 V347M probably damaging Het
Tlr12 G A 4: 128,617,686 T257M probably benign Het
Tmem132e A T 11: 82,434,636 D154V probably damaging Het
Zfp345 A G 2: 150,473,309 Y103H probably benign Het
Zfp947 T A 17: 22,146,252 Q147L possibly damaging Het
Other mutations in Fancc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Fancc APN 13 63400245 missense probably damaging 1.00
IGL00846:Fancc APN 13 63340456 missense possibly damaging 0.89
IGL01404:Fancc APN 13 63361638 missense probably damaging 1.00
IGL02625:Fancc APN 13 63398151 missense probably damaging 0.99
canneloni UTSW 13 63331823 intron probably benign
macaroni UTSW 13 63321865 critical splice donor site probably null
R0362:Fancc UTSW 13 63398156 missense possibly damaging 0.86
R0554:Fancc UTSW 13 63317469 missense probably benign 0.32
R0626:Fancc UTSW 13 63317391 missense probably damaging 0.97
R0627:Fancc UTSW 13 63317478 missense probably damaging 0.99
R0726:Fancc UTSW 13 63323411 missense probably benign 0.01
R0734:Fancc UTSW 13 63331842 missense probably damaging 1.00
R1363:Fancc UTSW 13 63361598 missense probably damaging 1.00
R1587:Fancc UTSW 13 63340432 missense probably benign 0.32
R1922:Fancc UTSW 13 63330567 missense possibly damaging 0.89
R4585:Fancc UTSW 13 63347564 missense probably benign 0.14
R4586:Fancc UTSW 13 63347564 missense probably benign 0.14
R4608:Fancc UTSW 13 63331823 intron probably benign
R5159:Fancc UTSW 13 63321865 critical splice donor site probably null
R5401:Fancc UTSW 13 63402953 missense probably damaging 1.00
R5561:Fancc UTSW 13 63317387 missense possibly damaging 0.85
R5699:Fancc UTSW 13 63330632 splice site probably null
R6200:Fancc UTSW 13 63360248 missense probably damaging 1.00
R6448:Fancc UTSW 13 63340428 missense probably damaging 0.98
R7562:Fancc UTSW 13 63403053 splice site probably null
R7615:Fancc UTSW 13 63317558 critical splice acceptor site probably null
R7805:Fancc UTSW 13 63360242 missense possibly damaging 0.86
R7864:Fancc UTSW 13 63400259 nonsense probably null
R7947:Fancc UTSW 13 63400259 nonsense probably null
R8080:Fancc UTSW 13 63403023 missense
Posted On2015-04-16