Incidental Mutation 'R5802:Fancg'
ID 448773
Institutional Source Beutler Lab
Gene Symbol Fancg
Ensembl Gene ENSMUSG00000028453
Gene Name Fanconi anemia, complementation group G
Synonyms Xrcc9
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43002343-43010506 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43006582 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 324 (F324S)
Ref Sequence ENSEMBL: ENSMUSP00000030165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030165]
AlphaFold Q9EQR6
Predicted Effect probably benign
Transcript: ENSMUST00000030165
AA Change: F324S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: F324S

low complexity region 51 74 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 164 179 N/A INTRINSIC
low complexity region 190 199 N/A INTRINSIC
Pfam:TPR_1 251 280 4.1e-6 PFAM
Pfam:TPR_2 251 281 7.3e-5 PFAM
Pfam:TPR_8 251 281 4.5e-3 PFAM
low complexity region 302 317 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
Blast:TPR 458 491 4e-9 BLAST
Blast:TPR 518 550 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148018
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
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 G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females and males homozygous for targeted null mutations exhibit hypogonadism and reduced fertility. Cytogeneic analysis showed somatic chromosome aberrations occur at a higher spontaneous rate and are easier to induce than in normal cells. Cells are also more sensitive to mitomycin C. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,950,964 (GRCm38) D383V probably damaging Het
Abca4 A T 3: 122,054,232 (GRCm38) L67F probably damaging Het
Abcc9 C A 6: 142,656,676 (GRCm38) probably null Het
Atp2a3 T C 11: 72,972,882 (GRCm38) V175A probably damaging Het
B3galt4 T A 17: 33,950,757 (GRCm38) D169V probably damaging Het
Bsn C T 9: 108,113,009 (GRCm38) R1848Q possibly damaging Het
Camkk2 T C 5: 122,734,244 (GRCm38) E90G probably damaging Het
Cdon T A 9: 35,454,420 (GRCm38) I155N probably damaging Het
Cep70 A G 9: 99,296,405 (GRCm38) N519D probably damaging Het
Clgn T C 8: 83,425,614 (GRCm38) S582P probably damaging Het
Cnga3 T C 1: 37,260,925 (GRCm38) F280S probably damaging Het
Dennd4c C T 4: 86,811,453 (GRCm38) T764M probably benign Het
Dis3 A T 14: 99,099,664 (GRCm38) S4T probably damaging Het
Dlgap1 T C 17: 70,766,091 (GRCm38) probably null Het
Dnah17 C T 11: 118,036,446 (GRCm38) V3839I possibly damaging Het
Dnajc1 A G 2: 18,284,739 (GRCm38) Y286H probably benign Het
Dynap T A 18: 70,241,002 (GRCm38) D151V unknown Het
Ednrb A G 14: 103,821,714 (GRCm38) F292S probably damaging Het
Eef1a1 A G 9: 78,479,036 (GRCm38) S396P probably damaging Het
Fbxw11 T A 11: 32,711,790 (GRCm38) S56T probably benign Het
Gm13178 T A 4: 144,703,636 (GRCm38) D261V probably damaging Het
Gm14409 T C 2: 177,265,256 (GRCm38) T150A possibly damaging Het
Gm17535 G C 9: 3,035,758 (GRCm38) V209L probably benign Homo
Gm20767 G A 13: 120,154,913 (GRCm38) S96N possibly damaging Het
Gm5592 C T 7: 41,219,105 (GRCm38) probably benign Het
Gm7030 A G 17: 36,111,287 (GRCm38) probably benign Het
Gpr137 C T 19: 6,942,005 (GRCm38) W51* probably null Het
Hbb-bs T C 7: 103,826,672 (GRCm38) Y146C probably damaging Het
Herc1 G T 9: 66,462,878 (GRCm38) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,665,056 (GRCm38) N309K unknown Het
Hydin A T 8: 110,452,060 (GRCm38) I1096F possibly damaging Het
Klf12 A G 14: 100,022,894 (GRCm38) V133A probably benign Het
Lats2 A T 14: 57,694,418 (GRCm38) Y848N probably damaging Het
Loxl3 A G 6: 83,049,289 (GRCm38) T453A possibly damaging Het
Ltn1 T G 16: 87,415,681 (GRCm38) H664P probably benign Het
Lypd6 C T 2: 50,173,601 (GRCm38) T40I probably benign Het
Nbeal1 A T 1: 60,272,221 (GRCm38) T1817S probably benign Het
Nub1 A C 5: 24,702,441 (GRCm38) Y350S possibly damaging Het
Pbp2 A G 6: 135,309,876 (GRCm38) Y158H possibly damaging Het
Ptpru C T 4: 131,788,377 (GRCm38) E827K possibly damaging Het
Rap1a A G 3: 105,745,936 (GRCm38) Y32H probably damaging Het
Raph1 T C 1: 60,488,673 (GRCm38) N1143S possibly damaging Het
Rbl1 T C 2: 157,161,433 (GRCm38) T859A probably benign Het
Rom1 A G 19: 8,928,824 (GRCm38) L117P probably damaging Het
Senp6 T C 9: 80,118,644 (GRCm38) probably benign Het
Sirpb1c T C 3: 15,832,076 (GRCm38) M379V probably benign Het
Slc6a4 C T 11: 77,019,236 (GRCm38) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm38) R141L probably damaging Het
Stk10 C T 11: 32,596,748 (GRCm38) P335L probably benign Het
Tecpr1 A T 5: 144,206,546 (GRCm38) N670K probably benign Het
Tgds T C 14: 118,132,707 (GRCm38) E8G probably benign Het
Tmem129 A G 5: 33,657,716 (GRCm38) S38P probably damaging Het
Trappc9 T C 15: 72,685,339 (GRCm38) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm38) probably benign Het
Wapl A G 14: 34,692,320 (GRCm38) T380A probably damaging Het
Xylt1 A T 7: 117,656,691 (GRCm38) T829S probably benign Het
Zc3h6 C T 2: 129,015,559 (GRCm38) P666L possibly damaging Het
Zfp703 C T 8: 26,979,205 (GRCm38) P299L probably damaging Het
Other mutations in Fancg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Fancg APN 4 43,003,910 (GRCm38) nonsense probably null
IGL02072:Fancg APN 4 43,007,062 (GRCm38) missense probably benign 0.00
IGL02184:Fancg APN 4 43,006,872 (GRCm38) missense possibly damaging 0.79
IGL02989:Fancg APN 4 43,007,121 (GRCm38) splice site probably benign
R0671:Fancg UTSW 4 43,002,998 (GRCm38) missense probably benign 0.00
R1581:Fancg UTSW 4 43,007,039 (GRCm38) missense probably damaging 1.00
R1853:Fancg UTSW 4 43,009,727 (GRCm38) missense probably benign 0.00
R2046:Fancg UTSW 4 43,004,604 (GRCm38) missense probably damaging 1.00
R2519:Fancg UTSW 4 43,008,787 (GRCm38) missense probably damaging 1.00
R4282:Fancg UTSW 4 43,003,830 (GRCm38) missense probably damaging 1.00
R4397:Fancg UTSW 4 43,008,897 (GRCm38) missense probably benign 0.02
R4583:Fancg UTSW 4 43,002,991 (GRCm38) missense probably benign
R4671:Fancg UTSW 4 43,005,272 (GRCm38) missense probably benign 0.01
R4887:Fancg UTSW 4 43,006,866 (GRCm38) missense probably benign 0.18
R5309:Fancg UTSW 4 43,003,019 (GRCm38) missense probably benign 0.23
R5312:Fancg UTSW 4 43,003,019 (GRCm38) missense probably benign 0.23
R5325:Fancg UTSW 4 43,006,564 (GRCm38) missense probably damaging 0.99
R5379:Fancg UTSW 4 43,002,998 (GRCm38) missense probably benign 0.00
R5386:Fancg UTSW 4 43,007,076 (GRCm38) nonsense probably null
R5649:Fancg UTSW 4 43,008,736 (GRCm38) missense probably damaging 1.00
R5788:Fancg UTSW 4 43,007,130 (GRCm38) intron probably benign
R6217:Fancg UTSW 4 43,010,084 (GRCm38) missense probably benign 0.03
R6698:Fancg UTSW 4 43,007,034 (GRCm38) missense probably benign 0.00
R7092:Fancg UTSW 4 43,004,831 (GRCm38) missense probably benign 0.03
R7527:Fancg UTSW 4 43,010,116 (GRCm38) start gained probably benign
R7664:Fancg UTSW 4 43,010,066 (GRCm38) missense probably benign 0.01
R7979:Fancg UTSW 4 43,004,963 (GRCm38) missense probably damaging 1.00
R8129:Fancg UTSW 4 43,005,036 (GRCm38) splice site probably null
R8473:Fancg UTSW 4 43,004,963 (GRCm38) missense probably damaging 1.00
R8885:Fancg UTSW 4 43,007,266 (GRCm38) critical splice donor site probably null
R9166:Fancg UTSW 4 43,006,800 (GRCm38) missense probably benign 0.04
R9243:Fancg UTSW 4 43,006,565 (GRCm38) missense possibly damaging 0.69
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-12-15